From ccd41604186cefa216d970a6320e969bc7ef82e5 Mon Sep 17 00:00:00 2001 From: Shlok Natarajan Date: Fri, 6 Jun 2025 11:05:38 -0700 Subject: [PATCH 1/2] feat: train test val split --- data/test.jsonl | 453 ++++++ data/train.jsonl | 3612 ++++++++++++++++++++++++++++++++++++++++++++++ data/val.jsonl | 451 ++++++ 3 files changed, 4516 insertions(+) create mode 100644 data/test.jsonl create mode 100644 data/train.jsonl create mode 100644 data/val.jsonl diff --git a/data/test.jsonl b/data/test.jsonl new file mode 100644 index 0000000..86a37b6 --- /dev/null +++ b/data/test.jsonl @@ -0,0 +1,453 @@ +{"pmcid":"PMC5887212","article_title":"Cholinergic receptor nicotinic alpha 5 subunit polymorphisms are associated with smoking cessation success in women","article_path":"articles/PMC5887212.md","variant_annotation_id":1450928789,"variant_haplotypes":"rs2472553","gene":"CHRNA2","drugs":"bupropion, nicotine, varenicline","pmid":29621993,"phenotype_category":"Efficacy","significance":"no","notes":"No significant effect of genotype on likelihood of being abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to bupropion, nicotine or varenicline in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438527,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 3.3E-3.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4425504","article_title":"Association between Polymorphisms in Vascular Endothelial Growth Factor Gene and Response to Chemotherapies in Colorectal Cancer: A Meta-Analysis","article_path":"articles/PMC4425504.md","variant_annotation_id":1444842405,"variant_haplotypes":"rs833061","gene":"VEGFA","drugs":"bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin, oxaliplatin","pmid":25955730,"phenotype_category":"Efficacy","significance":"no","notes":"Response was determined by RECIST criteria. In a subgroup analysis excluding the use of anti-angiogenic agents (e.g. bevacuzimab) no significant association was found for any genotypes and response to chemotherapy.","sentence":"Allele C is not associated with response to bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin and oxaliplatin in people with Colorectal Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC9536193","article_title":"Germline Polymorphisms as Biomarkers of Tumor Response in Colorectal Cancer Patients Treated with Anti-EGFR Monoclonal Antibodies: A Systematic Review and Meta-Analysis","article_path":"articles/PMC9536193.md","variant_annotation_id":1449165334,"variant_haplotypes":"rs9344","gene":"CCND1","drugs":"cetuximab, panitumumab","pmid":27897268,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis with 5 studies. This variant was listed as rs17852153 in the original article. The authors did not provide the exact number of patients but stated that \"the median number of patients per analysis was 110 (range 50 - 740)\". Most definitions of response were variations of the RECIST criteria.","sentence":"Allele A is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10908252","article_title":"Methadone pharmacogenetics in vitro and in vivo: Metabolism by CYP2B6 polymorphic variants and genetic variability in pediatric disposition","article_path":"articles/PMC10908252.md","variant_annotation_id":1451781260,"variant_haplotypes":"CYP2B6*1, CYP2B6*6, CYP2B6*7, CYP2B6*9, CYP2B6*18","gene":"CYP2B6","drugs":"(S)-methadone","pmid":35538637,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"effect was reported as \"S-methadone clearance was significantly associated with CYP2B6 polymorphisms,; specifically the number of CYP2B6 slow metabolizer alleles\" and listed \"CYP2B6 slow metabolizer alleles in the study population included *6,*7,*9,*18\"","sentence":"CYP2B6 *6 + *7 + *9 + *18 is associated with decreased clearance of (S)-methadone in children with Scoliosis as compared to CYP2B6 *1/*1.","alleles":"*6 + *7 + *9 + *18","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Scoliosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3071070","article_title":"Association of Pharmacogenetic Markers with Premature Discontinuation of First-line Anti-HIV Therapy: An Observational Cohort Study","article_path":"articles/PMC3071070.md","variant_annotation_id":1184747531,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"atazanavir, ritonavir","pmid":21288825,"phenotype_category":"Toxicity","significance":"no","notes":"atazanavir boosted with ritonavir","sentence":"Genotypes AA + AG is not associated with increased discontinuation of atazanavir and ritonavir in people with HIV Infections as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":699639154,"variant_haplotypes":"rs2267715","gene":"CRHR2","drugs":"salbutamol","pmid":18408560,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele G is associated with decreased response to salbutamol in people with Asthma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3131846","article_title":"Interactive Modeling for Ongoing Utility of Pharmacogenetic Diagnostic Testing: Application for Warfarin Therapy","article_path":"articles/PMC3131846.md","variant_annotation_id":1183701300,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":19679631,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"The plasma S-warfarin concentration required to yield the target INR response for each genotype: CC, 0.68 mg/L; TC, 0.48 mg/L; TT, 0.27 mg/L.","sentence":"Allele T is associated with increased response to warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3653303","article_title":"IL28B genotype is associated with differential expression of intrahepatic interferon-stimulated genes in chronic hepatitis C patients","article_path":"articles/PMC3653303.md","variant_annotation_id":981481534,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":20931559,"phenotype_category":"Efficacy","significance":"yes","notes":"The subtype of peginterferon alpha was not specified. The association was with SVR(sustained viral response). Patients were monoinfected with HCV genotype 1. Nonresponders and relapsers were grouped together. Allele frequency listed is for entire cohort of 61.","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756073,"variant_haplotypes":"rs1554203","gene":"AQP9","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele A is not associated with response to platinum in people with Lung Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6631257","article_title":"A Single Site Population Study to Investigate CYP2D6 Phenotype of Patients with Persistent Non-Malignant Pain","article_path":"articles/PMC6631257.md","variant_annotation_id":1451351660,"variant_haplotypes":"CYP2D6 normal metabolizers","gene":"CYP2D6","drugs":"codeine","pmid":31141989,"phenotype_category":"Efficacy","significance":"not stated","notes":"All CYP2D6 PMs, IMs and UMs in the study cohort were categorized as non-responders to codeine. Patients were genotyped for the *1, *2, *3, *4, *5, *6, *9, *10, *41 alleles as well as for allele duplication. Note that patients with a CYP2D6 activity score of 1 were assigned as normal metabolizers.","sentence":"CYP2D6 normal metabolizer is associated with increased response to codeine in people with Pain as compared to CYP2D6 intermediate metabolizer and poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer and poor metabolizer"} +{"pmcid":"PMC4956330","article_title":"Prediction of Warfarin Dose in Pediatric Patients: An Evaluation of the Predictive Performance of Several Models","article_path":"articles/PMC4956330.md","variant_annotation_id":1448255587,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":27453700,"phenotype_category":"Dosage","significance":"not stated","notes":null,"sentence":"CYP2C9 *3 is associated with dose of warfarin in children with Heart Diseases as compared to CYP2C9 *1.","alleles":"*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3448899","article_title":"The paraoxonase-1 pathway is not a major bioactivation pathway of clopidogrel in vitro","article_path":"articles/PMC3448899.md","variant_annotation_id":1184472453,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"clopidogrel","pmid":22428615,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"This comparison was done in pooled human liver microsomes. Production of clopidogrel's active metabolite from 2-oxo-clopidogrel was measured.","sentence":"CYP2C19 *2/*2 is associated with decreased metabolism of clopidogrel as compared to CYP2C19 *1/*1.","alleles":"*2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5763654","article_title":"Monitoring of peripheral blood cluster of differentiation 4+ adenosine triphosphate activity and CYP3A5 genotype to determine the pharmacokinetics, clinical effects and complications of tacrolimus in patients with autoimmune diseases","article_path":"articles/PMC5763654.md","variant_annotation_id":1449172092,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":29375701,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the *1/*1 + *1/*3 genotypes had lower tacrolimus concentrations (p=0.0108) and concentration/dose ratio (p=0.0056) as compared to those with the *3/*3 genotype.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with decreased concentrations of tacrolimus in people with Autoimmune Diseases as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Autoimmune Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC10583240","article_title":"Population pharmacokinetic analyses for belzutifan to inform dosing considerations and labeling","article_path":"articles/PMC10583240.md","variant_annotation_id":1452212720,"variant_haplotypes":"UGT2B17 poor metabolizer","gene":"UGT2B17","drugs":"belzutifan","pmid":37596839,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"variants genotyped are not specified, nor are which variants are considered PM. \"A population pharmacokinetic (PK) model was built, using NONMEM\u00ae v7.3, based on demographics/PK data from 3 clinical pharmacology (food effect, formulation bridging, genotype/race effect) and 2 clinical (phase 1 dose escalation/expansion in RCC and other solid tumors; phase 2 in VHL patients) studies.\" \"UGT2B17 and CYP2C19 poor metabolizers (PM) were estimated to have a 3.2-fold higher area under the plasma concentration-time curve (AUC) compared to UGT2B17 extensive metabolizer and CYP2C19 non-PM patients.\"","sentence":"UGT2B17 poor metabolizer is associated with increased concentrations of belzutifan in people with von Hippel-Lindau Disease or Carcinoma, Renal Cell.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:von Hippel-Lindau Disease, Other:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359247,"variant_haplotypes":"rs3842727","gene":"TH","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele T is not associated with response to heroin as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6595468","article_title":"Relevance of CYP2B6 and CYP2D6 genotypes to methadone pharmacokinetics and response in the OPAL study","article_path":"articles/PMC6595468.md","variant_annotation_id":1450374173,"variant_haplotypes":"CYP2D6 poor and ultrarapid metabolizers","gene":"CYP2D6","drugs":"methadone","pmid":30907440,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"CYP2D6 poor metabolizer and ultrarapid metabolizer are not associated with dose of methadone in people with Opioid-Related Disorders as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer and ultrarapid metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3044738","article_title":"Response Prediction in Chronic Hepatitis C by Assessment of IP-10 and IL28B-Related Single Nucleotide Polymorphisms","article_path":"articles/PMC3044738.md","variant_annotation_id":982031608,"variant_haplotypes":"rs12980275","gene":"IFNL3","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":21390311,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was associated with response in univariate analysis, but not in multivariate analysis. Significantly lower baseline plasma levels of IP-10 were associated with this SNP. Lower levels of IP-10 were found to be statistically significantly associated with better treatment outcome.","sentence":"Genotype AA is not associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928104,"variant_haplotypes":"rs10012","gene":"CYP1B1","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"The C allele was initially significantly more frequent in patients designated as non-responders to risperidone (i.e. <50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.","sentence":"Allele C is associated with decreased response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3594083","article_title":"Pharmacokinetics of Intravenous Voriconazole in Obese Patients: Implications of CYP2C19 Homozygous Poor Metabolizer Genotype","article_path":"articles/PMC3594083.md","variant_annotation_id":1444828153,"variant_haplotypes":"CYP2C19*2","gene":"CYP2C19","drugs":"voriconazole","pmid":23400848,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Case report: 17 yo Hispanic obese (BMI: 35) male receiving voriconazole for suspected aspergillosis. Elevated levels remained elevated (5.8 ug/ml) despite decreased dose to 4mg/kg every 12 hours. Drug discontinued due to QTc prolongation possibly related to electrolyte abnormalities and elevated voriconazole concentrations.","sentence":"CYP2C19 *2/*2 (assigned as poor metabolizer phenotype) is associated with increased concentrations of voriconazole.","alleles":"*2/*2","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4236071","article_title":"Adiponectin Gene Polymorphism rs2241766 T/G Is Associated with Response to Pioglitazone Treatment in Type 2 Diabetic Patients from Southern China","article_path":"articles/PMC4236071.md","variant_annotation_id":1444666926,"variant_haplotypes":"rs3774261","gene":"ADIPOQ","drugs":"pioglitazone","pmid":25405601,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as \"any decrease greater than (or equal to) 15%\" of glycated hemoglobin (HbA1C%). The AA genotype was associated with a greater decrease in waist circumference as compared to the AG and GG genotypes after pioglitazone therapy (p=0.019) although the AG and GG genotypes were associated with a greater decrease in fasting insulin as compared to the AA genotype (p=0.03).","sentence":"Genotypes AG + GG are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4278770","article_title":"Oxidative Stress-Related Genetic Polymorphisms Are Associated with the Prognosis of Metastatic Gastric Cancer Patients Treated with Epirubicin, Oxaliplatin and 5-Fluorouracil Combination Chemotherapy","article_path":"articles/PMC4278770.md","variant_annotation_id":1444694818,"variant_haplotypes":"rs1800566","gene":"NQO1","drugs":"epirubicin, fluorouracil, oxaliplatin","pmid":25545243,"phenotype_category":"Efficacy","significance":"yes","notes":"Response refers to survival (progression free and overall). rs1800566 AG/AA genotype was an independent predictive factor of poor PFS. Please note: the alleles reported here are complemented to the + chromosomal strand.","sentence":"Genotypes AA + AG are associated with decreased response to epirubicin, fluorouracil and oxaliplatin in people with Neoplasm Metastasis and Stomach Neoplasms as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4502741","article_title":"Normalization of Sweat Chloride Concentration and Clinical Improvement With Ivacaftor in a Patient With Cystic Fibrosis With Mutation S549N","article_path":"articles/PMC4502741.md","variant_annotation_id":1183960311,"variant_haplotypes":"rs121908755","gene":"CFTR","drugs":"ivacaftor","pmid":24081349,"phenotype_category":"Efficacy","significance":"not stated","notes":"A girl with rapidly advancing lung disease was treated with ivacaftor and after 6 weeks of treatment showed clinical improvement (including normalization of sweat chloride, cough was cleared within 3 weeks, ability to engage in school exercise classes by 4 weeks, weight gain, and significantly improved lung function). She had the gating variant CFTR S549N, as well as the class I CFTR variant 1811+1.6kbA>G.","sentence":"Allele A is associated with response to ivacaftor in children with Cystic Fibrosis.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4522133","article_title":"Limited predictive value of achieving beneficial plasma (Z)-endoxifen threshold level by CYP2D6 genotyping in tamoxifen-treated Polish women with breast cancer","article_path":"articles/PMC4522133.md","variant_annotation_id":1448261039,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6","gene":"CYP2D6","drugs":"endoxifen","pmid":26232141,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Pre- and post menopausal patients received 20 mg/day tamoxifen for at least 1 month (median duration 21.5 month). DNA source was blood and CYP2D6 was genotyped with TaqMan allelic discrimination assays. PM (non-functional) alleles include: CYP2D6*3, *4, *5, *6, *7; IM (reduced function) alleles include: CYP2D6*9, *10, *17, *41; EM (wt; fully functional) alleles include CYP2D6*1 and *2; UM (increased function) alleles include: duplication of EM variants of the gene, such as CYP2D6*1XN and *2XN. Patients were assigned a CYP2D6 genotype depending on the combination of alleles they carry, as PM/PM, IM/PM, IM/IM, EM/PM, EM/IM, EM/EM or EM/UM.","sentence":"CYP2D6 *4/*4 + *3/*4 + *4/*5 + *4/*6 are associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*2 + *1/*1 + *2/*2.","alleles":"*4/*4 + *3/*4 + *4/*5 + *4/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*1 + *2/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC2992873","article_title":"Genetic Variation of VKORC1 and CYP4F2 Genes Related to Warfarin Maintenance Dose in Patients with Myocardial Infarction","article_path":"articles/PMC2992873.md","variant_annotation_id":981500599,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":21127708,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"This SNP showed a weak but not significant association with dosage when analyzed alone, and when analyzed with CYP2C9*2,CYP2C9*3 and VKORC1*2, also provided no significant contribution.","sentence":"Allele C is not associated with dose of warfarin in people with Myocardial Infarction as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Myocardial Infarction","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4615595","article_title":"Association of Common C-Reactive Protein (CRP) Gene Polymorphisms With Baseline Plasma CRP Levels and Fenofibrate Response","article_path":"articles/PMC4615595.md","variant_annotation_id":982044434,"variant_haplotypes":"rs1205","gene":"CRP","drugs":"fenofibrate","pmid":18285551,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change of C-reactive protein (CRP) levels between baseline and 3 weeks of treatment, was seen between genotypes. In strong linkage disequilibrium with rs3091244 and rs1417938 (r2 = 0.4 - 0.9, p < 0.001) and in weak linkage disequilibrium with rs3093059 (r2 = 0.17, p < 0.05).","sentence":"Genotype CC is not associated with response to fenofibrate in people with Metabolic Syndrome as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metabolic Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5373543","article_title":"Pharmacogenomics study on cadherin 2 network with regard to HIV infection and methadone treatment outcome","article_path":"articles/PMC5373543.md","variant_annotation_id":1448995536,"variant_haplotypes":"rs17446819","gene":"CDH2","drugs":"methadone","pmid":28358908,"phenotype_category":"Efficacy","significance":"yes","notes":"Association between SNP and response to methadone is not directly shown in the paper. Genotype AA is associated with increased concentrations of CDH2 in plasma and individuals with increased CDH2 levels had an improved response to methadone treatment (p=0.005).","sentence":"Genotype CC is associated with increased response to methadone as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC5590735","article_title":"Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin","article_path":"articles/PMC5590735.md","variant_annotation_id":1448994415,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":28886044,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Allele also known as CYP2B6*6.","sentence":"Genotype TT is associated with increased concentrations of efavirenz in children with HIV Infections.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2943151","article_title":"Dual specificity phosphatase-1 as a pharmacogenetic modifier of inhaled steroid response among asthma patients","article_path":"articles/PMC2943151.md","variant_annotation_id":769174083,"variant_haplotypes":"rs881152","gene":"DUSP1","drugs":"salbutamol","pmid":20673984,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects were taking inhaled corticosteroids. When the Puerto-Rican and Mexican American cohorts from the GALA study were analyzed separately, the same association was significant in the Puerto-Ricans but not in the Mexican Americans.","sentence":"Allele G is associated with increased response to salbutamol in people with Asthma as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4542662","article_title":"Combined Effect of CYP2B6 and NAT2 Genotype on Plasma Efavirenz Exposure During Rifampin-based Antituberculosis Therapy in the STRIDE Study","article_path":"articles/PMC4542662.md","variant_annotation_id":1452644100,"variant_haplotypes":"CYP2B6 poor metabolizer","gene":"CYP2B6","drugs":"efavirenz","pmid":25722197,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Genotype for metabolizer status determined from rs3745274, rs28399499, and rs4803419. Patients were taking both efavirenz and antituberculosis therapy. \"In participants with CYP2B6 extensive and intermediate metabolizer genotypes, only small differences between efavirenz Cmin concentrations on antituberculosis therapy and off antituberculosis therapy were seen for all NAT2 metabolizer genotypes. In contrast, among the 4 participants with both CYP2B6 and NAT2 slow metabolizer genotypes, efavirenz Cmin concentrations were substantially elevated on antituberculosis therapy compared to off antituberculosis therapy, with differences exceeding 8 \u00b5g/mL in 3 of these 4 participants; this was not statistically significant in this subset. One individual with slow CYP2B6 and intermediate NAT2 metabolizer genotypes had a considerably larger efavirenz Cmin concentration on vs off antituberculosis treatment.\"","sentence":"CYP2B6 poor metabolizer is associated with increased concentrations of efavirenz in people with HIV infectious disease and Tuberculosis as compared to CYP2B6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease, Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC2957581","article_title":"Effects of erythromycin on voriconazole pharmacokinetics and association with CYP2C19 polymorphism","article_path":"articles/PMC2957581.md","variant_annotation_id":1183848503,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"voriconazole","pmid":20669013,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors report that extensive metabolizers (*1/*1) and heterozygote extensive metabolizers (*1/*2 or *1/*3) had decreased elimination half life (hours), AUC (0-24, 0-infinity) (h*\u00b5g/mL), and increased apparent oral clearance (mL/min) of voriconazole when compared to poor metabolizers (*2/*2 +*2/*3). No significant difference was reported when comparing the same PK parameters between *1/*1 to *1/*2+*1/*3. Additionally, no significant differences were seen for maximum plasma concentrations (Cmax) or time to Cmax (Tmax).","sentence":"CYP2C19 *2/*2 + *2/*3 (assigned as poor metabolizer phenotype) is associated with decreased metabolism of voriconazole in healthy individuals as compared to CYP2C19 *1/*1 + *1/*2 + *1/*3.","alleles":"*2/*2 + *2/*3","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC5590735","article_title":"Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin","article_path":"articles/PMC5590735.md","variant_annotation_id":1448994455,"variant_haplotypes":"rs41303343","gene":"CYP3A5","drugs":"efavirenz","pmid":28886044,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This is stated in the paper, but supporting data is not shown.; Allele also known as CYP3A5*7","sentence":"Allele A is not associated with concentrations of efavirenz in children with HIV Infections as compared to allele del.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} +{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680156,"variant_haplotypes":"rs144315541","gene":"ADCY9","drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"yes","notes":"The allele associated with increased response and low frequency is not explicitly stated. Response is increased for carriers of the rare, minor allele. GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation. This was assessed as a replication attempt for a previously reported association of a different ADCY9 SNP with response to bronchodilators. Bonferroni correction was performed according to the number of SNPs included that are within 50 kb up and downstream of ADCY9.","sentence":"Genotype AG is associated with increased response to salbutamol in children with Asthma as compared to genotype GG.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4296935","article_title":"Warfarin Dosage Response Related Pharmacogenetics in Chinese Population","article_path":"articles/PMC4296935.md","variant_annotation_id":1444694633,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":25594941,"phenotype_category":"Dosage","significance":"no","notes":"158/220 patients had the target INR (1.5\u20132.5). The comparison of weekly warfarin maintenance dose was among patients of different genotypes. Differences in maintenance dose were not observed in patients with variant genotypes of CYP4F2 s2108622. Please note: the alleles are complemented to the + chromosomal strand.","sentence":"Genotypes CT + TT are not associated with dose of warfarin in people with heart valve replacement as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5135610","article_title":"Genetic polymorphisms in the long noncoding RNA MIR2052HG offer a pharmacogenomic basis for the response of breast cancer patients to aromatase inhibitor therapy","article_path":"articles/PMC5135610.md","variant_annotation_id":1449002484,"variant_haplotypes":"rs2891356","gene":null,"drugs":"anastrozole, exemestane","pmid":27758888,"phenotype_category":"Efficacy","significance":"no","notes":"Patients included postmenopausal women with resected stage I\u2013III breast cancer that was ERa and/or PgR positive and randomized to five years of anastrozole or exemestane. Did not reach statistical significance for GWAS (P<5 x 10^-8).","sentence":"Allele G is not associated with increased response to anastrozole and exemestane in women with Breast Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3273458","article_title":"Deciphering the Interleukin 28B Variants That Better Predict Response to Pegylated Interferon-\u03b1 and Ribavirin Therapy in HCV/HIV-1 Coinfected Patients","article_path":"articles/PMC3273458.md","variant_annotation_id":1444705084,"variant_haplotypes":"rs28416813","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":22328925,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C and HIV Infections as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection, Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981793982,"variant_haplotypes":"rs12648166","gene":"DCK","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Tumor response to therapy, progression free survival, and risk of neutropenia development did not significantly differ between genotype groups.","sentence":"Genotype AA is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373239,"variant_haplotypes":"rs3192723","gene":"OPRM1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"Patients with the CC genotype had a lower 'negative rate of morphine urine test' than patients with the CT or TT genotypes. However, this SNP was not significantly associated with MMT compliance in the study.; Note that although this variant is located in MTRF1L, it is discussed in the paper as being an OPRM1 SNP.; Please note that alleles have been complemented to the positive strand.","sentence":"Genotype CC is associated with decreased response to methadone in people with Heroin Dependence as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4432150","article_title":"Influence of ABCC2 and ABCC4 Polymorphisms on Tenofovir Plasma Concentrations in Thai HIV-Infected Patients","article_path":"articles/PMC4432150.md","variant_annotation_id":1444703296,"variant_haplotypes":"rs3740066","gene":"ABCC2","drugs":"tenofovir","pmid":25801567,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes CT + TT is not associated with concentrations of tenofovir in people with HIV Infections as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5018246","article_title":"Clinical Evaluation of Cisplatin Sensitivity Germline Polymorphisms in Neoadjuvant Chemotherapy for Urothelial Cancer","article_path":"articles/PMC5018246.md","variant_annotation_id":1448112545,"variant_haplotypes":"rs10964552","gene":"MLLT3","drugs":"cisplatin","pmid":27150640,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP was significantly associated with stage A and \u221224C>T Polymorphisms on Lacosamide Efficacy and Plasma Concentrations in Uygur Pediatric Patients With Epilepsy in China","article_path":"articles/PMC9819208.md","variant_annotation_id":1451921146,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"lacosamide","pmid":36253887,"phenotype_category":"Efficacy","significance":"yes","notes":"\"the proportion of patients with the ABCC2 1249G>A (rs2273697) A; allele and ABCC2 -24C>T (rs717620) T allele in the drug-resistant group was; significantly higher than that in the drug-responsive group\"","sentence":"Allele T is associated with increased resistance to lacosamide in children with Epilepsy as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4812555","article_title":"Impact of the CYP4F2 gene polymorphisms on the warfarin maintenance dose: A systematic review and meta-analysis","article_path":"articles/PMC4812555.md","variant_annotation_id":1447983837,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":27073641,"phenotype_category":"Dosage","significance":"yes","notes":"22 studies with 4,549 were included in the meta-analysis. Most studies were in Chinese patients but 5 were not (2 Japanese, 1 Korean, 1 Indian, 1 Turkish) and one was in a non-specific \"Asian\" population. Most individuals were prescribed warfarin for heart valve replacement, AF, DVT, pulmonary embolism and stroke.","sentence":"Allele T is associated with increased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6923423","article_title":"Influence of OATP1B1 and BCRP polymorphisms on the pharmacokinetics and pharmacodynamics of rosuvastatin in elderly and young Korean subjects","article_path":"articles/PMC6923423.md","variant_annotation_id":1451124180,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"rosuvastatin","pmid":31857620,"phenotype_category":"Metabolism/PK","significance":"no","notes":"SLCO1B1 521T\u2009>\u2009C was also partially associated with a higher AUC of rosuvastatin in young subjects and a less pronounced increasing trend in elderly subjects (p\u2009>\u20090.05 for both). However, it was not statistically significant.","sentence":"Genotypes CC + CT are associated with increased concentrations of rosuvastatin as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359460,"variant_haplotypes":"rs129915","gene":"DBH","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of heroin in people with Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767281,"variant_haplotypes":"rs3008608","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele A is not associated with trough concentration of vancomycin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5980466","article_title":"Population pharmacokinetics and pharmacogenomics of apixaban in Japanese adult patients with atrial fibrillation","article_path":"articles/PMC5980466.md","variant_annotation_id":1449191978,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"apixaban","pmid":29457840,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes AA + AG are not associated with clearance of apixaban in people with Atrial Fibrillation as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10990950","article_title":"Effects of CYP2D6 gene polymorphism on plasma concentration and therapeutic effect of olanzapine","article_path":"articles/PMC10990950.md","variant_annotation_id":1452437311,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*10, CYP2D6*34, CYP2D6*39","gene":"CYP2D6","drugs":"olanzapine","pmid":38576571,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"The EMs group showed a trend of lower olanzapine plasma concentrations and C/D ratios than the IMs group at different time points (Fig. 1A and B). Interestingly, the olanzapine concentration in the Unknowns group exhibited a noticeable decrease at 8 weeks, leading to a lower trend of concentrations compared to the other two groups (Fig. 1A and B). However, the difference was not statistically significant.\"\"The results showed no significant differences in plasma olanzapine concentrations, treatment response, or the occurrence of adverse effects among different CYP2D6 genotypes\"","sentence":"CYP2D6 *10/*10 (assigned as intermediate metabolizer phenotype) is associated with increased concentrations of olanzapine in people with Schizophrenia as compared to CYP2D6 *1/*1 + *1/*34 + *1/*39 + *2/*2 + *2/*34 + *2/*39 + *10/*39 + *39/*39 (assigned as normal metabolizer phenotype) .","alleles":"*10/*10","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*34 + *1/*39 + *2/*2 + *2/*34 + *2/*39 + *10/*39 + *39/*39","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767304,"variant_haplotypes":"rs35762933","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele T is not associated with trough concentration of vancomycin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3555879","article_title":"ABCB1 Variation and Treatment Response in AIDS Patients: Initial Results of the Henan Cohort","article_path":"articles/PMC3555879.md","variant_annotation_id":982045422,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"lamivudine, nevirapine","pmid":23372834,"phenotype_category":"Efficacy","significance":"not stated","notes":"This paper was unclear as to which allele was associated with increased or decreased response as measured by change in CD4+ T cell counts. The significance of this association was greater if rs2032582 was included.","sentence":"Allele A is associated with response to lamivudine or nevirapine in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3093079","article_title":"Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients","article_path":"articles/PMC3093079.md","variant_annotation_id":1444710914,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"4-hydroxytamoxifen, endoxifen, N-desmethyltamoxifen, tamoxifen","pmid":21480951,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Patients (pre- (83%) and postmenopausal (17%)) with ER and/or PR positive breast tumors, which received 20 mg tamoxifen daily. Patients taking CYP2D6 inhibitors were excluded. DNA extracted from blood.","sentence":"CYP3A5 *3 is not associated with concentrations of 4-hydroxytamoxifen, endoxifen, n-desmethyltamoxifen and tamoxifen in women with Breast Neoplasms as compared to CYP3A5 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5018246","article_title":"Clinical Evaluation of Cisplatin Sensitivity Germline Polymorphisms in Neoadjuvant Chemotherapy for Urothelial Cancer","article_path":"articles/PMC5018246.md","variant_annotation_id":1448112449,"variant_haplotypes":"rs244898","gene":"RARS1","drugs":"cisplatin","pmid":27150640,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP was significantly associated with complete pathologic response in the discovery cohort, but not the replication cohort.","sentence":"Genotype TT is associated with increased response to cisplatin in people with Urinary Bladder Neoplasms as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Urinary Bladder Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":982046684,"variant_haplotypes":"rs510335","gene":"F7","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"Daily dose of phenprocoumon is not significantly associated with this SNP. Daily dose is negatively correlated with age. This study published an algorithm for daily dose that includes height, although height was not significant in univariate analysis. This SNP is also not significantly associated with phenprocoumon concentration.","sentence":"Genotype GG is not associated with increased dose of phenprocoumon as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC8426351","article_title":"Influence of FMO3 and CYP3A4 Polymorphisms on the Pharmacokinetics of Teneligliptin in Humans","article_path":"articles/PMC8426351.md","variant_annotation_id":1451503688,"variant_haplotypes":"rs2266780","gene":"FMO3","drugs":"teneligliptin","pmid":34512362,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"effect described for (rs2266780/rs2266782). Significant for clearance, Cmax, and AUC.","sentence":"Genotypes AG + GG is associated with decreased clearance of teneligliptin in men as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC11913886","article_title":"Pharmacokinetic Profiles of Lansoprazole in Patients With Morbid Obesity Post\u2010Roux\u2010en\u2010Y Gastric Bypass Surgery","article_path":"articles/PMC11913886.md","variant_annotation_id":1453076880,"variant_haplotypes":"CYP2C19*1","gene":"CYP2C19","drugs":"lansoprazole","pmid":40098302,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Our findings support this evidence, as we observed that CYP2C19 normal metabolizers (CYP2C19 *1/*1) generally exhibit lower systemic exposure to lansoprazole at 6\u2009weeks post\u2010RYGB, with a significant reduction in Cmax. In contrast, no significant pharmacokinetic changes were observed in CYP2C19 intermediate metabolizers (CYP2C19 *1/*2 & *1/*3) post\u2010surgery. Based on these results, we suggest that CYP2C19 enzyme activity increases after RYGB surgery, particularly in CYP2C19 normal metabolizers. The increases in enzyme activity, leading to enhanced hepatic CL, are likely associated with weight reduction and decreased liver fat content, as described above.\"","sentence":"CYP2C19 *1/*1 is associated with decreased exposure to lansoprazole in people with history of gastric bypass surgery.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:history of gastric bypass surgery","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7455128","article_title":"Pharmacogenomics of aromatase inhibitors in postmenopausal breast cancer and additional mechanisms of anastrozole action","article_path":"articles/PMC7455128.md","variant_annotation_id":1451356940,"variant_haplotypes":"rs1437153","gene":null,"drugs":"anastrozole","pmid":32701512,"phenotype_category":"Efficacy","significance":"yes","notes":"Response was measured by the decrease in estrogen levels over the course of treatment.","sentence":"Allele T is associated with decreased response to anastrozole in women with Breast Neoplasms as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3674704","article_title":"IL28B expression depends on a novel TT/-G polymorphism which improves HCV clearance prediction","article_path":"articles/PMC3674704.md","variant_annotation_id":1444706391,"variant_haplotypes":"rs11322783","gene":"IFNL4","drugs":"peginterferon alfa-2b, ribavirin","pmid":23712427,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype consists of T deletion adjacent to a T to G substitution (TT/-G) and is associated with sustained virological response (SVR).","sentence":"Genotype GG is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes G/TT + TT/TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G/TT + TT/TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557881,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815067,"variant_haplotypes":"rs2164660","gene":"PDE4D","drugs":"quetiapine","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of A alleles present in a patient was negatively associated with PGI score. Please note that this variant is in high linkage disequilibrium with rs17742120 and rs17382202.","sentence":"Allele A is associated with increased response to quetiapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3943570","article_title":"Inhaled corticosteroid treatment modulates ZNF432 gene variant's effect on bronchodilator response in asthmatics","article_path":"articles/PMC3943570.md","variant_annotation_id":1183698784,"variant_haplotypes":"rs3752120","gene":"ZNF432","drugs":"budesonide, corticosteroids, fluticasone propionate, fluticasone/salmeterol","pmid":24280104,"phenotype_category":"Efficacy","significance":"yes","notes":"This is stated as \"Having 2 copies of the mutant allele and not being treated with inhaled corticosteroids produces a higher bronchodilator response than having 2 mutant alleles and being treated with inhaled corticosteroids(ICS).\" By \"mutant\" allele, presumably the minor allele (T) is meant. CAMP has 3 arms: budesonide,nedocromil and placebo. Subjects in the budesonide arm were considered exposed to ICS. For LOCCS(which was used as a replication cohort), subjects who said that they had used ICS either daily or 2-6x/wk over the past 6 months were considered to have used ICS. Subjects who responded: \"1-2x/month\", \"<1x/month\" or \"never\" were considered to not have used ICS. A comparison between genotypes was not done. The authors state that the clinical implication is not clear,and that \"Inhaled corticosteroids appear to modulate the association of bronchodilator response with variant(s) in the ZNF432 gene among adults and children with asthma.\"","sentence":"Genotype TT is associated with decreased response to budesonide, corticosteroids, fluticasone propionate or fluticasone/salmeterol in people with Asthma.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811764,"variant_haplotypes":"rs506247","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. No significant association between this variant and any individual item or total score on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele C is not associated with response to ethanol as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC10275785","article_title":"Effect of NLRP3 inflammasome genes polymorphism on disease susceptibility and response to TNF-\u03b1 inhibitors in Iraqi patients with rheumatoid arthritis","article_path":"articles/PMC10275785.md","variant_annotation_id":1452143360,"variant_haplotypes":"rs2043211","gene":"CARD8","drugs":"etanercept, infliximab","pmid":37332933,"phenotype_category":"Efficacy","significance":"yes","notes":"caution, this is an A/T SNP in a gene on the minus strand. Authors show T as minor allele which suggests is reported on plus strand. Responders = \u0394DAS-28 \u2265 1.2 and DAS-28 \u2264 3.2, Non-responders = \u0394DAS-28 \u2264 1.2 and DAS28 \u2264 5.1 (Table 1)","sentence":"Genotype TT is associated with decreased response to etanercept or infliximab in people with Arthritis, Rheumatoid as compared to genotypes AA + AT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AT","comparison_metabolizer_types":null} +{"pmcid":"PMC11148365","article_title":"Meta-analysis of the effects of CYP3A5*3 gene polymorphisms on tacrolimus blood concentration and effectiveness in Chinese patients with membranous nephropathy","article_path":"articles/PMC11148365.md","variant_annotation_id":1452497240,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":38835664,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The meta-analysis results showed that at \u22641 month [SMD = \u22121.93, 95% CI (\u22122.79, \u22121.08), p < 0.001], 1\u20136 months [SMD = \u22122.25, 95% CI (\u22122.71, \u22121.79), p < 0.001], and \u22656 months [SMD = \u22122.36, 95% CI (\u22122.86, \u22121.86), p < 0.001], the TAC C0/D levels of CYP3A5 expressers in MN patients were lower than those of CYP3A5 non-expressers (Figure 3).\" \"AA + AG genotype (referred to as expressers) and the GG genotype (referred to as non-expressers)\"","sentence":"Genotypes CT + TT is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Glomerulonephritis, Membranous as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Glomerulonephritis, Membranous","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4682920","article_title":"Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study","article_path":"articles/PMC4682920.md","variant_annotation_id":1447682476,"variant_haplotypes":"rs1801689","gene":"APOH","drugs":"boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":26670100,"phenotype_category":"Efficacy","significance":"no","notes":"This variant was not significantly associated with SVR to triple therapy including telaprevir or boceprevir in patients with compensated cirrhosis chronically infected with HCV-1.","sentence":"Allele A is not associated with increased response to boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930597,"variant_haplotypes":"rs3743074","gene":"CHRNA3","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele G is not associated with exposure to nicotine in men as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC10599059","article_title":"Association of DRD2, DRD4 and COMT genes variants and their gene-gene interactions with antipsychotic treatment response in patients with schizophrenia","article_path":"articles/PMC10599059.md","variant_annotation_id":1452288082,"variant_haplotypes":"rs1799978","gene":"DRD2","drugs":"haloperidol, olanzapine, perphenazine, quetiapine, risperidone","pmid":37880658,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. \"The G allele of DRD2 A-241G was associated with increased risk of resistant to treatment when compared to A allele (OR(95%CI): 3.661,P\u2009=\u20090.02,Table 2).\"","sentence":"Allele C is associated with increased resistance to haloperidol, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3476140","article_title":"Association study between clinical response to rizatriptan and some candidate genes","article_path":"articles/PMC3476140.md","variant_annotation_id":1452551180,"variant_haplotypes":"rs1137070","gene":"MAOA","drugs":"rizatriptan","pmid":17563839,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders to rizatriptan. Variant referred to in the paper as MAO-A EcoRV and mapped to rs1137070 by PharmGKB.","sentence":"Allele C is not associated with response to rizatriptan in people with Migraine without Aura as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4615534","article_title":"Comparison of Functional Variants in IFNL4 and IFNL3 for Association with Hepatitis C Virus Clearance","article_path":"articles/PMC4615534.md","variant_annotation_id":1445206674,"variant_haplotypes":"rs4803217","gene":"IFNL3","drugs":"peginterferon alfa-2a, ribavirin","pmid":26186989,"phenotype_category":"Efficacy","significance":"yes","notes":"in African-American patients. The associations were stronger for IFNL4-rs368234815 than rs4803217 for undetectable HCV RNA at week 24 in Virahep C (p=0.03) trial and week 20 in HALT-C (p=0.03) trial.","sentence":"Genotypes AC + CC are associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862151,"variant_haplotypes":"rs2075507","gene":"COMT","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs737866,rs7287550, rs5746849, rs740603, rs6269, rs2239393, rs4818, rs4680, rs174699, rs165728). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here.","sentence":"Allele G is associated with decreased dose of morphine in people with Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934425,"variant_haplotypes":"rs869312136","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the C allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Asp33Gly in the paper.","sentence":"Allele C is associated with increased response to migalastat in people with Fabry Disease.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2935997","article_title":"The effects of CYP2D6 and CYP3A activities on the pharmacokinetics of immediate release oxycodone","article_path":"articles/PMC2935997.md","variant_annotation_id":1449003206,"variant_haplotypes":"CYP2D6 poor metabolizer genotype","gene":"CYP2D6","drugs":"noroxymorphone","pmid":20590587,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Cmax and AUC for noroxymorphone were significantly lower in poor metabolizers than in ultrarapid metabolizers.","sentence":"CYP2D6 poor metabolizer is associated with decreased concentrations of noroxymorphone in healthy individuals as compared to CYP2D6 ultrarapid metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"ultrarapid metabolizer"} +{"pmcid":"PMC8429954","article_title":"CYP2C19 Genotyping May Provide a Better Treatment Strategy when Administering Escitalopram in Chinese Population","article_path":"articles/PMC8429954.md","variant_annotation_id":1451505380,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"escitalopram","pmid":34512354,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Per Table 2: PM (N = 13), IM (N = 47), EM (N = 27)","sentence":"CYP2C19 *2/*2 +*3/*3 + *2/*3 (assigned as poor metabolizer phenotype) is associated with increased exposure to escitalopram in healthy individuals as compared to CYP2C19 *1/*1 + *1/*2 + *1/*3 (assigned as intermediate metabolizer and normal metabolizer phenotype) .","alleles":"*2/*2 +*3/*3 + *2/*3","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2 + *1/*3","comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} +{"pmcid":"PMC5590735","article_title":"Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin","article_path":"articles/PMC5590735.md","variant_annotation_id":1448994449,"variant_haplotypes":"rs10264272","gene":"CYP3A5","drugs":"efavirenz","pmid":28886044,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This is stated in the paper, but supporting data is not shown.; Allele also known as CYP3A5*6.","sentence":"Allele C is not associated with concentrations of efavirenz in children with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4406866","article_title":"Association of OPRM1 A118G variant with risk of morphine-induced respiratory depression following spine fusion in adolescents","article_path":"articles/PMC4406866.md","variant_annotation_id":1445296785,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"morphine","pmid":25266679,"phenotype_category":"Efficacy","significance":"yes","notes":"Presence of the G allele was associated with higher pain scores in patients taking morphine. Otherwise healthy adolescents undergoing spinal fusion for scoliosis.","sentence":"Genotypes AG + GG is associated with decreased response to morphine in children as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896077,"variant_haplotypes":"rs2377898","gene":"MTCL1","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11803932","article_title":"Drug response is related to NR3C1 and FAAH polymorphism in Chinese pediatric epilepsy patients","article_path":"articles/PMC11803932.md","variant_annotation_id":1452840740,"variant_haplotypes":"rs41423247","gene":"NR3C1","drugs":"antiepileptics","pmid":39920787,"phenotype_category":"Efficacy","significance":"yes","notes":"From table 4. \"The frequency of the C allele was significantly higher in the good response group than in the poor response group (P\u2009<\u20090.001, Table 4). \"In genetic model analysis, the dominant model of rs41423247 showed a difference between the good response group and the poor response group (P\u2009<\u20090.001, Table 5)\" \"In our study, we found a correlation between NR3C1 and drug response to ASM treatment in Chinese pediatric epilepsy patients, mainly in the form of CG genotype, and C allele is associated with a good response to the drug, suggesting that the NR3C1 rs41423247 polymorphism may affect the therapeutic effect of ASM in epilepsy patients.\" Drugs not specified.","sentence":"Genotype GG is associated with decreased clinical benefit to antiepileptics in children with Epilepsy as compared to genotypes CC + CG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479763,"variant_haplotypes":"rs2213712","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1448613498,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with normalized dose when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together.","sentence":"Allele T is not associated with dose of selumetinib in healthy individuals as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4002408","article_title":"Lack of effect of genetic polymorphisms of SLCO1B1 on the lipid-lowering response to pitavastatin in Chinese patients","article_path":"articles/PMC4002408.md","variant_annotation_id":1451451700,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"pitavastatin","pmid":20140004,"phenotype_category":"Efficacy","significance":"no","notes":"There was no statistical difference among patients with wild type, SLCO1B1 388A>G or SLCO1B1 521T>C in the lipid-lowering efficacy of pitavastatin in Chinese patients with essential hyperlipidemia.","sentence":"Genotypes CC + CT are not associated with response to pitavastatin in people with Hyperlipidemias as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hyperlipidemias","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC10309098","article_title":"Pharmacogenetic interactions of efavirenz or rifampin and isoniazid with levonorgestrel emergency contraception during treatment of HIV or tuberculosis","article_path":"articles/PMC10309098.md","variant_annotation_id":1452473020,"variant_haplotypes":"rs887829","gene":"UGT1A1","drugs":"levonorgestrel","pmid":37306344,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Study investigated the effect on steady-state drugs used to treat HIV or tuberculosis on the pharmacokinetics of single dose levonorgestrel. Association found in the cohort treated with dolutegravir.","sentence":"Genotypes CT + TT (assigned as intermediate metabolizer and poor metabolizer phenotype) is not associated with clearance of levonorgestrel in women with HIV Infections as compared to genotype CC (assigned as normal metabolizer phenotype) .","alleles":"CT + TT","specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC8184575","article_title":"Effect of race and glucuronidation rates on the relationship between nicotine metabolite ratio and nicotine clearance","article_path":"articles/PMC8184575.md","variant_annotation_id":1451700040,"variant_haplotypes":"rs2331559","gene":null,"drugs":"nicotine","pmid":33675323,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No effect of the UGT2B10 variant genotypes on the ability of plasma nicotine metabolite ratio to predict nicotine clearance.","sentence":"Allele C is not associated with clearance of nicotine as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3944214","article_title":"Characterization of Statin Dose-response within Electronic Medical Records","article_path":"articles/PMC3944214.md","variant_annotation_id":1183685341,"variant_haplotypes":"rs11807862","gene":"PRDM16","drugs":"atorvastatin, hmg coa reductase inhibitors, simvastatin","pmid":24096969,"phenotype_category":"Efficacy","significance":"no","notes":"There could be strand confusion with this A/T SNP. The result is reported as max effect with simvastatin = 51.7 +/- 33.87 mg/dl in subjects homozygous for the minor allele vs. 74.96 +/- 29.71 mg/dl in those homozygous for the major allele, and 71.66 +/- 32.43 mg/dl for heterozygotes. The gene is on the positive chromosomal strand and dbSNP lists T>A. This SNP was also found to be associated with simvastatin max effect, also not significantly so after correction for multiple testing.","sentence":"Genotype AA is associated with decreased response to atorvastatin, hmg coa reductase inhibitors or simvastatin as compared to genotype TT.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC10838100","article_title":"Association of HTR1A Gene Polymorphisms with Efficacy and Plasma Concentrations of Atypical Antipsychotics in the Treatment of Male Patients with Schizophrenia","article_path":"articles/PMC10838100.md","variant_annotation_id":1452378403,"variant_haplotypes":"rs6295","gene":"HTR1A","drugs":"quetiapine","pmid":38312123,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"At 6 weeks, \"the rs6295 locus GG genotype had significantly higher plasma concentrations than the CG genotype (t = 2.877, P = 0.008). However, there were no statistically significant differences between the genotypes at weeks 3 and 12 of treatment.\"","sentence":"Genotype GG is associated with increased concentrations of quetiapine in men with Schizophrenia as compared to genotype CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG","comparison_metabolizer_types":null} +{"pmcid":"PMC10848431","article_title":"Effects of CYP3A4*22 and POR*28 variations on the pharmacokinetics of tacrolimus in renal transplant recipients: a meta-analysis of 18 observational studies","article_path":"articles/PMC10848431.md","variant_annotation_id":1452376400,"variant_haplotypes":"rs1057868","gene":"POR","drugs":"tacrolimus","pmid":38321419,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"A significantly higher C0/Dose was observed in POR*1/*1 carriers compared to POR*28 carriers for recipients at 7 days post-transplantation (SMD\u2009=\u20090.34, 95% CI: 0.02 to 0.65, I2\u2009=\u200984.0%). However, no significant difference was observed for the other time courses of post-transplantation (Fig. 3A). In the subgroup analysis stratified by CYP3A5 genotype, for CYP3A5 expressers (CYP3A5*1 carriers), C0/Dose of POR*1/*1 carriers was 22.64 (WMD\u2009=\u200922.64, 95% CI: 2.54 to 42.74, I2\u2009=\u200947.2%) or 19.41 (ng/ml)/(mg/kg/day) (WMD\u2009=\u200919.41, 95% CI: 9.58 to 29.24, I2\u2009=\u200973.5%) higher compared to POR*28 carriers for recipients at 3 days or 7 days post-transplantation (Fig. 3B). However, for CYP3A5 non-expressers (CYP3A5*3/*3 carriers), no significant difference was observed between POR*1/*1 and POR*28 carriers at any time course of post-transplantations (Fig. 3C). \"","sentence":"Genotype CC is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3131846","article_title":"Interactive Modeling for Ongoing Utility of Pharmacogenetic Diagnostic Testing: Application for Warfarin Therapy","article_path":"articles/PMC3131846.md","variant_annotation_id":1183701305,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":19679631,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"CC individuals required a daily maintenance dose of S-warfarin of 5.2 mg/day; TC individuals required 4.1 mg/day, and TT individuals required 2.4 mg/day.","sentence":"Allele C is associated with increased dose of warfarin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4814312","article_title":"Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study","article_path":"articles/PMC4814312.md","variant_annotation_id":1447813652,"variant_haplotypes":"rs74795342","gene":null,"drugs":"lithium","pmid":26806518,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients had been taking lithium for at least 6 mo. Response to lithium was assayed using the Alda scale, which quantifies symptom improvement over time. The scale is from 0-10, with 10 being the highest response score and 0 being the lowest. The authors evaluated response using a dichotomous (=7 is \"responder\" and < 7 is \"non-responder\") and a continuous phenotype (0-10). This SNP was found to be associated with improved response to lithium using the continuous phenotype but not the dichotomous phenotype measure. The same alleles had a lower rate of relapse of symptoms in an independent prospective study of 73 patients. The AG genotype was also associated with a greater risk of relapse as compared to the GG genotype. This is one of four SNPs in LD that show association (rs79663003, rs78015114, rs74795342, rs75222709).","sentence":"Allele G is associated with increased response to lithium in people with Bipolar Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5299197","article_title":"Influence of IL-18 and IL-10 Polymorphisms on Tacrolimus Elimination in Chinese Lung Transplant Patients","article_path":"articles/PMC5299197.md","variant_annotation_id":1448603543,"variant_haplotypes":"rs1946518","gene":"IL18","drugs":"tacrolimus","pmid":28246425,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Dose-adjusted trough concentrations of tacrolimus were GG>GT>TT at weeks 1 (p=0.007), 2 (p=0.018) and 3 (p=0.019) post-transplant. No significant results were seen at week 4 (p=0.079). This variant was also analyzed in combination with rs5744247 - patients with <=1 allele (Group 1), patients with 2 alleles (Group 2) and patients with >= 3 alleles (Group 3) were compared. Group 3 had lower dose-adjusted trough concentrations as compared to Groups 1 + 2 (p<0.05); no significant difference was seen between Groups 1 and 2. Additionally, note that this polymorphism had a significant impact among CYP3A5 expressers (rs776746 CT+TT) but NOT among nonexpressers (CC). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes GG + GT is associated with increased dose-adjusted trough concentrations of tacrolimus in people with lung transplantation as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC11552228","article_title":"CYP3A4*1B and CYP3A5*3 SNPs significantly impact the response of Egyptian candidates to high-intensity statin therapy to atorvastatin","article_path":"articles/PMC11552228.md","variant_annotation_id":1452706320,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"atorvastatin","pmid":39523378,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by decreased triglycerides. \"The serum TG concentration was greater in the C/C genotype carriers (50.53\u2009\u00b1\u200943.61) than in the C/T genotype carriers (38.01\u2009\u00b1\u200916.64) (P value\u2009<\u20090.05) (Table 5).\" CC genotype had higher triglycerides at start of study compared to CT and still higher levels post-treatment but had greater reductions, although percentage change was not significant.","sentence":"Genotype CC is associated with increased response to atorvastatin in people with Cardiovascular Disease or Hyperlipidemias as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cardiovascular Disease, Other:Hyperlipidemias","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC9537548","article_title":"A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients","article_path":"articles/PMC9537548.md","variant_annotation_id":1451919592,"variant_haplotypes":"rs2256871","gene":"CYP2C9","drugs":"warfarin","pmid":36210801,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"for S-warfarin stereoisomer in particular, measured as increased S-warfarin/R-warfarin ratio and using a Bonferroni-adjusted replication significance threshold p < 3.21 \u00d7 10\u22124. (CYP2C9*9)","sentence":"Allele G is associated with decreased metabolism of warfarin in people with Atrial Fibrillation, venous thromboembolism or Heart Valve Diseases as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation, Other:Venous thromboembolism, Other:Heart Valve Diseases","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954029,"variant_haplotypes":"rs2278749","gene":"BMAL1","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC442471","article_title":"Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity","article_path":"articles/PMC442471.md","variant_annotation_id":1448258995,"variant_haplotypes":"DPYD deficiency","gene":"DPYD","drugs":"fluorouracil","pmid":3335642,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Case report. This patient was later genotyped in PMID 11895907. A 40-year-old white woman was diagnosed with breast cancer. She was treated with fluorouracil and developed neurotoxicity and neutropenia. She was found to have markedly prolonged elimination half-life of fluorouracil (159 min), decreased clearance (70 ml/min/m2) and no evidence of fluorouracil catabolites were seen in plasma or cerebrospinal fluid. She was found to have complete deficiency of DPYD enzyme activity in peripheral blood mononuclear cells. Her father and children had partial deficiency.","sentence":"DPYD deficiency is associated with decreased metabolism of fluorouracil in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3890033","article_title":"Association of single nucleotide polymorphisms in MTHFR and ABCG2 with the different efficacy of first-line chemotherapy in metastatic colorectal cancer","article_path":"articles/PMC3890033.md","variant_annotation_id":1184747551,"variant_haplotypes":"rs1801131","gene":"MTHFR","drugs":"antineoplastic agents","pmid":24338217,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in response rate or progression-free survival time was seen between the genotypes. Patients were either receiving FOLFOX/XELOX or FOLFIRI regimens (respectively: fluorouracil, leucovorin, oxaliplatin; capecitabine, oxaliplatin; fluorouracil, leucovorin, irinotecan). Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is not associated with response to antineoplastic agents in people with Colorectal Neoplasms as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC11023817","article_title":"Pharmacogenetic Influence on Stereoselective Steady-State Disposition of Bupropion","article_path":"articles/PMC11023817.md","variant_annotation_id":1452415420,"variant_haplotypes":"CYP2B6*6","gene":"CYP2B6","drugs":"bupropion","pmid":38467432,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Hydroxylation was 25-50% lower in CYP2B6*6 carriers and one-third to one-half less in 516T; carriers.\" \"CYP2B6*6 carriers had lower; bupropion hydroxylation compared with CYP2B6*1 participants, and CYP2B6*6 homozygotes; had lower S-bupropion apparent oral clearance (Table 1). CYP2B6 genotype had no influence; on bupropion renal clearance (Table 2)\"","sentence":"CYP2B6 *6 is associated with increased exposure to bupropion in people with Depressive Disorder, Major.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981794195,"variant_haplotypes":"rs7867504","gene":"SLC28A3","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Tumor response to therapy, progression free survival, and risk of neutropenia development did not significantly differ between genotype groups.","sentence":"Genotype CC is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5404990","article_title":"A cis-eQTL in OPRM1 is Associated with Subjective Response to Alcohol and Alcohol Use","article_path":"articles/PMC5404990.md","variant_annotation_id":1450824235,"variant_haplotypes":"rs3778150","gene":"OPRM1","drugs":"ethanol","pmid":28273335,"phenotype_category":null,"significance":"yes","notes":"Individuals carrying the C allele showed decreased reported sensitivity to alcohol overall, during the last three-month period of drinking and at the period of heaviest drinking in their lives compared to individuals with the TT genotype. C allele carriers also showed lower reported sensitivity to the sedating effects of alcohol and experimental alcohol stimulation compared to TT subjects. However, there was no significant association between this variant and reported alcohol sensitivity during the participants' first five drinking episodes, reported sensitivity to the stimulating effects of alcohol, experimental alcohol-related sedation or subjective intoxication.","sentence":"Genotypes CC + CT are associated with decreased response to ethanol as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3225067","article_title":"Pharmacogenetic Predictors of Methylphenidate Dose-Response in Attention-Deficit/Hyperactivity Disorder","article_path":"articles/PMC3225067.md","variant_annotation_id":1450376686,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"methylphenidate","pmid":22024001,"phenotype_category":"Efficacy","significance":"no","notes":"Vanderbilt ADHD Parent Rating Scales and Vanderbilt ADHD Teacher Rating Scales - hyperactive-impulsive domain score was derived by totaling scores from the nine hyperactive-impulsive symptoms.","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359361,"variant_haplotypes":"rs10770140","gene":"TH","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of heroin in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2858245","article_title":"Integration of genetic, clinical, and INR data to refine warfarin dosing","article_path":"articles/PMC2858245.md","variant_annotation_id":1183700756,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":20375999,"phenotype_category":"Dosage","significance":"yes","notes":"Each T allele resulted in a 20% (17-23%) decrease in therapeutic dose on Day 4 or 5 of therapy.","sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4454285","article_title":"Polymorphisms in Dopamine Transporter (SLC6A3) are Associated with Stimulant Effects of d-Amphetamine: An Exploratory Pharmacogenetic Study Using Healthy Volunteers","article_path":"articles/PMC4454285.md","variant_annotation_id":981501538,"variant_haplotypes":"rs460000","gene":"SLC6A3","drugs":"amphetamine","pmid":20091113,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"This association was not significant after correction for multiple testing. Association was with changes on the stimulation scale and on the euphoria scale.","sentence":"Genotype GG is associated with increased response to amphetamine in healthy individuals as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC7164646","article_title":"Toward precision prescribing for methadone: Determinants of methadone deposition","article_path":"articles/PMC7164646.md","variant_annotation_id":1451353463,"variant_haplotypes":"CYP2B6*1, CYP2B6*5, CYP2B6*6, CYP2B6*7, CYP2B6*18","gene":"CYP2B6","drugs":"methadone","pmid":32302325,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the *1/*6, *1/*18, *6.*6 or *6/*16 genotypes (designated os loss of function genotypes) had significantly decreased metabolism of metabolism compared to patients with the *1/*1, *1/*5 or *1/*7 genotypes (designated as normal function genotypes). See Table 4 for details of genotyping and assignation of CYP2B6 star alleles. Please note that *16 was merged into *18 based on PharmVar.","sentence":"CYP2B6 *1/*6 + *1/*18 + *6/*6 + *6/*18 are associated with decreased metabolism of methadone in people with Opioid-Related Disorders as compared to CYP2B6 *1/*1 + *1/*5 + *1/*7.","alleles":"*1/*6 + *1/*18 + *6/*6 + *6/*18","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*5 + *1/*7","comparison_metabolizer_types":null} +{"pmcid":"PMC3508798","article_title":"Possible effect of norepinephrine transporter polymorphisms on methylphenidate-induced changes in neuropsychological function in attention-deficit hyperactivity disorder","article_path":"articles/PMC3508798.md","variant_annotation_id":1450376406,"variant_haplotypes":"rs28386840","gene":"SLC6A2","drugs":"methylphenidate","pmid":22591463,"phenotype_category":"Efficacy","significance":"not stated","notes":"After 8 weeks of treatment, subjects with the A/A genotype at the A-3081T polymorphism showed less improvement in the mean commission error scores (p = 0.003) than those with the A/T or T/T genotypes. Subjects with the T/T genotype showed the greatest decrease in commission errors, followed by the A/T genotype and A/A genotype (p = 0.007). Test of variables of attention (TOVA) described as continuous performance test (CPT).","sentence":"Genotypes AT + TT are associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotype AA.","alleles":"AT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3833422","article_title":"Effect of Genetic Variant (rs11887534) in ABCG8 Gene in Coronary Artery Disease and Response to Atorvastatin Therapy","article_path":"articles/PMC3833422.md","variant_annotation_id":981501315,"variant_haplotypes":"rs11887534","gene":"ABCG8","drugs":"atorvastatin","pmid":20592455,"phenotype_category":"Efficacy","significance":"no","notes":"Alleles were reported as \"D = wildtype\" and \"H = variant\". This gene is on the + strand, and dbSNP reports G to be the extremely major allele in every population, so I interpreted D to be G and H to be C. There were no HH (CC) homozygotes. The response measured was lowering of LDL-C.","sentence":"Genotype CG is not associated with increased response to atorvastatin in people with Coronary Artery Disease as compared to genotype GG.","alleles":"CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2820245","article_title":"GRK5 Gln41Leu polymorphism is not associated with sensitivity to \u03b21-adrenergic blockade in humans","article_path":"articles/PMC2820245.md","variant_annotation_id":1183615604,"variant_haplotypes":"rs2230345","gene":"GRK5","drugs":"atenolol","pmid":19842931,"phenotype_category":"Efficacy","significance":"no","notes":"Subjects performed exercise on a supine bicycle ergometer. No differences between genotypes were seen for change in heart rate at rest, heart rate at maximal exercise, or heart rate area under the curve (AUC) after atenolol administration.","sentence":"Genotype AA is not associated with response to atenolol in healthy individuals as compared to genotypes AT + TT.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449165982,"variant_haplotypes":"rs17685420","gene":"PEBP4","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"yes","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; Variant achieved significance in the meta-analysis after Bonferroni correction had been applied, but was only nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele T is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2599947","article_title":"ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence","article_path":"articles/PMC2599947.md","variant_annotation_id":1450811619,"variant_haplotypes":"rs1922242","gene":"ABCB1","drugs":"methadone","pmid":18424454,"phenotype_category":"Dosage","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. Alleles were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone.","sentence":"Allele A is not associated with dose of methadone in people with Heroin Dependence as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC11317398","article_title":"Genetic variability in the glucocorticoid pathway and treatment outcomes in hospitalized patients with COVID-19: a pilot study","article_path":"articles/PMC11317398.md","variant_annotation_id":1452563203,"variant_haplotypes":"rs33389","gene":"NR3C1","drugs":"dexamethasone","pmid":39135792,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Homozygotes for polymorphic NR3C1 rs33389 allele also needed longer (12 days) hospitalization when compared to carriers of one or two reference alleles (both 9 days) (p adj = 0.025).\"","sentence":"Genotype TT is associated with increased time to response to dexamethasone in people with COVID-19 as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"time to response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:COVID-19","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3506814","article_title":"Pharmacogenetic Influence of LOC387715/HTRA1 on the Efficacy of Bevacizumab Treatment for Age-Related Macular Degeneration in a Korean Population","article_path":"articles/PMC3506814.md","variant_annotation_id":1183699689,"variant_haplotypes":"rs10490924","gene":"ARMS2","drugs":"bevacizumab","pmid":23204795,"phenotype_category":"Dosage","significance":"no","notes":"No significant differences in the average number of additional bevacizumab injections (after the initial three intravitreal injections), were seen between any of the genotypes.","sentence":"Genotypes GT + TT are not associated with dose of bevacizumab in people with Macular Degeneration as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10782740","article_title":"Risperidone plasma level, and its correlation with CYP2D6 gene polymorphism, clinical response and side effects in chronic schizophrenia patients","article_path":"articles/PMC10782740.md","variant_annotation_id":1452352400,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*10, CYP2D6*41, CYP2D6*65","gene":"CYP2D6","drugs":"risperidone","pmid":38200532,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Plasma levels of RIP and dose corrected RIP concentration in IM group were significantly higher than those in NM group (both p-value were <\u20090.001). Similarly, IMs had a significantly higher RIP/9-OH-RIP ratio and C/D ratio than those value in NMs (p\u2009=\u20090.009 and 0.003, respectively). However, we didn\u2019t observe this kind of difference in blood levels of 9-OH-RIP and dose-corrected 9-OH-RIP, and active moiety (all p\u2009>\u20090.05). All those data were listed in Table \u200bTable4.\" \"IMs, activity score\u2009=\u20090.5 or 0.75), normal metabolizers (NMs, activity score\u2009=\u20091.25, 1.5 or 2.0\"","sentence":"CYP2D6 *10/*10 + *10/*65 + *10/*41 (assigned as intermediate metabolizer phenotype) is associated with increased concentrations of risperidone in people with Schizophrenia as compared to CYP2D6 *1/*1 + *1/*10 + *1/*2 + *2/*2 + *2/*41 (assigned as normal metabolizer phenotype) .","alleles":"*10/*10 + *10/*65 + *10/*41","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*10 + *1/*2 + *2/*2 + *2/*41","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376644,"variant_haplotypes":"rs11564750","gene":null,"drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele C.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6800829","article_title":"Impact of SLCO1B3 Polymorphisms on Clinical Outcomes in Lung Allograft Recipients Receiving Mycophenolic Acid","article_path":"articles/PMC6800829.md","variant_annotation_id":1451101332,"variant_haplotypes":"rs3740066","gene":"ABCC2","drugs":"azathioprine, mycophenolic acid","pmid":30992538,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and survival post-transplantation or development of acute cellular rejection, lymphocytic bronchiolitis or chronic lung allograft dysfunction (CLAD).","sentence":"Allele T is not associated with response to azathioprine or mycophenolic acid in people with lung transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157174,"variant_haplotypes":"rs581111","gene":"OPRD1","drugs":"buprenorphine","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to buprenorphine in people with Opioid-Related Disorders as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5877743","article_title":"Prediction of Tacrolimus Exposure by CYP3A5 Genotype and Exposure of Co-Administered Everolimus in Japanese Renal Transplant Recipients","article_path":"articles/PMC5877743.md","variant_annotation_id":1449748012,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":29547545,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the *3/*3 genotype had increased dose-adjusted area under the blood concentration-time curves (AUC/D) and dose-adjusted trough concentrations (C0/D) of tacrolimus as compared to those with the *1/*1 or *1/*3 genotype. Significant at 1 month (p<0.001 for both) and 1 year (<0.001 for AUC/D and p=0.004 for C0/D) post-transplant. Note that at 1 year post transplant only 31 patients remained for analysis.","sentence":"CYP3A5 *3/*3 is associated with decreased metabolism of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC3471928","article_title":"No Association of a Set of Candidate Genes on Haloperidol Side Effects","article_path":"articles/PMC3471928.md","variant_annotation_id":1448993645,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"haloperidol","pmid":23077486,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype CT is associated with increased concentrations of haloperidol in people with Psychotic Disorders as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767249,"variant_haplotypes":"rs10085144","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele G is not associated with trough concentration of vancomycin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2737687","article_title":"CYP2C9*8 is prevalent among African\u2013Americans: implications for pharmacogenetic dosing","article_path":"articles/PMC2737687.md","variant_annotation_id":1183700910,"variant_haplotypes":"CYP2C9*1, CYP2C9*8","gene":"CYP2C9","drugs":"warfarin","pmid":19663669,"phenotype_category":"Dosage","significance":"yes","notes":"An African-American male previously typed as *1/*1 but whose therapeutic warfarin dose was low (14.4 mg/wk) was sequenced and found to be *8/*8. Out of 600 African American alleles genotyped, the frequency of *8 was 0.047 .","sentence":"CYP2C9 *8/*8 is associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*8/*8","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC10452379","article_title":"Novel Gene Polymorphisms for Stable Warfarin Dose in a Korean Population: Genome-Wide Association Study","article_path":"articles/PMC10452379.md","variant_annotation_id":1452221262,"variant_haplotypes":"rs310279","gene":"NKX2-6","drugs":"warfarin","pmid":37626805,"phenotype_category":"Dosage","significance":"yes","notes":"in univariate analysis of patients on stable dose. \"FIn this GWAS analysis, we identified three novel variants (FRAS1 rs4386623, FAM201A rs1890109, and NKX2-6 rs310279) that were significantly associated with stable warfarin dose requirements in patients who underwent heart valve replacements. \"","sentence":"Genotypes AG + GG is associated with increased dose of warfarin in people with heart valve replacement as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930662,"variant_haplotypes":"rs514743","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele T is not associated with exposure to nicotine in men as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6003833","article_title":"Allelic Variant in the Glucagon-Like Peptide 1 Receptor Gene Associated with Greater Effect of Liraglutide and Exenatide on Gastric Emptying: A Pilot Pharmacogenetics Study","article_path":"articles/PMC6003833.md","variant_annotation_id":1452878627,"variant_haplotypes":"rs7903146","gene":"TCF7L2","drugs":"exenatide, liraglutide","pmid":29488276,"phenotype_category":"PD","significance":"no","notes":"\"For the TCF7L2 (rs7903146) genotype (major vs. minor allele), assessment, changes in gastric emptying at 5 weeks (p=0.93) and weight loss at 5 weeks (p=0.72) were not different.\"","sentence":"Genotypes CT + TT is not associated with increased response to exenatide or liraglutide in people with Obesity as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Obesity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3860742","article_title":"RRM1 and RRM2 pharmacogenetics: association with phenotypes in HapMap cell lines and acute myeloid leukemia patients","article_path":"articles/PMC3860742.md","variant_annotation_id":1183700223,"variant_haplotypes":"rs5030743","gene":"RRM2","drugs":"cladribine, cytarabine","pmid":24024897,"phenotype_category":"Efficacy","significance":"yes","notes":"As measured by a poorer overall survival. Note this is a G/C SNP, therefore the risk allele could potentially get mixed up.","sentence":"Genotypes CG + GG is associated with decreased response to cladribine and cytarabine in children with Leukemia, Myeloid, Acute as compared to genotype CC.","alleles":"CG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5306247","article_title":"Impact of CYP3A4*1G Allele on Clinical Pharmacokinetics and Pharmacodynamics of Clopidogrel","article_path":"articles/PMC5306247.md","variant_annotation_id":1450823997,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"clopidogrel","pmid":26891871,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in platelet aggregation between genotype groups. The publication reports the finding for CYP3A4*1G. PharmVar re-assigned CYP3A4*1G to CYP3A4*36. Previously, this annotation used CYP3A4*36 which has been retired by PharmVar. All references to *36 have been replaced by rs2242480 alleles.","sentence":"Genotype C/T is not associated with response to clopidogrel in people with Coronary Artery Disease as compared to genotype C/C.","alleles":"C/T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C/C","comparison_metabolizer_types":null} +{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874540,"variant_haplotypes":"rs28371726","gene":"CYP2D6","drugs":"clozapine","pmid":40048458,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"In the model adjusted for clinical predictors of clozapine concentration, including smoking status and cumulative dose of clozapine, five SNPs (rs28371726 and rs202102799 in CYP2D6; rs4148323 and rs34946978 in UGT1A1; and rs2011404 in UGT1A4) showed significant associations with clozapine concentration. The rs number for each SNP associated with clozapine concentration is shown in Table 3.\" Table does not state which allele or direction of effect for these SNPs, so assuming minor allele and decreased concentration (beta value in table is negative).","sentence":"Allele G is associated with decreased concentrations of clozapine in people with Schizophrenia or Psychotic Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4130425","article_title":"Therapeutic drug monitoring of voriconazole: a case report of multiple drug interactions in a patient with an increased CYP2C19 activity","article_path":"articles/PMC4130425.md","variant_annotation_id":1444828163,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":25120580,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Case report: Patient receiving voriconazole had subtherapeutic levels. After administration of esomeprazole (CYP2C19 inhibitor) level within therapeutic range.","sentence":"CYP2C19 *1/*17 is associated with decreased concentrations of voriconazole.","alleles":"*1/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11148365","article_title":"Meta-analysis of the effects of CYP3A5*3 gene polymorphisms on tacrolimus blood concentration and effectiveness in Chinese patients with membranous nephropathy","article_path":"articles/PMC11148365.md","variant_annotation_id":1452497160,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":38835664,"phenotype_category":"Efficacy","significance":"no","notes":"\"The results showed that at 3 months [OR = 0.98, 95% CI (0.55, 1.76), p = 0.949], 6 months [OR = 1.14, 95% CI (0.84, 1.56), p = 0.401], and 12 months [OR = 1.20, 95% CI (0.66, 2.21), p = 0.551], the remission rates of expressers were higher than those of non-expressers, but there was no statistically significant difference between the two groups (p > 0.05) (Figure 4).\" \"AA + AG genotype (referred to as expressers) and the GG genotype (referred to as non-expressers)\"","sentence":"Genotypes CT + TT is associated with increased clinical benefit to tacrolimus in people with Glomerulonephritis, Membranous as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Glomerulonephritis, Membranous","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5411458","article_title":"CYP2D6 Phenotyping Using Urine, Plasma, and Saliva Metabolic Ratios to Assess the Impact of CYP2D6\u221710 on Interindividual Variation in a Chinese Population","article_path":"articles/PMC5411458.md","variant_annotation_id":1448617702,"variant_haplotypes":"CYP2D6*1, CYP2D6*10","gene":"CYP2D6","drugs":"dextromethorphan","pmid":28512430,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Single dose study with 15mg dextromethorphan DM. Urine, Plasma, and Saliva Metabolic Ratios were accessed. Subjects were genotyped by DNA sequencing analysis for CYP2D6*1, *2, *3, *4, *6, *7, *10, *14, *18, *21, *28, *33, *34, *35, *36, *39, *41, *43, *49, *51, *52, *54, *60, *63, *65, *69, *71, and *75 and CNV were determined. *1/*1 n= 22; *1/*10 n=93. The urinary, plasma, or salivary MRs increased successively in subjects with CYP*1/*1, *1/*10, *10/*10, and *5/*10 with statistical significance (all P-values < 0.001).","sentence":"CYP2D6 *1/*10 is associated with decreased metabolism of dextromethorphan in healthy individuals as compared to CYP2D6 *1/*1.","alleles":"*1/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5018246","article_title":"Clinical Evaluation of Cisplatin Sensitivity Germline Polymorphisms in Neoadjuvant Chemotherapy for Urothelial Cancer","article_path":"articles/PMC5018246.md","variant_annotation_id":1448112528,"variant_haplotypes":"rs7937567","gene":"GALNT18","drugs":"cisplatin","pmid":27150640,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP was significantly associated with complete pathologic response in the discovery cohort, but not the replication cohort.","sentence":"Genotype GG is associated with increased response to cisplatin in people with Urinary Bladder Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Urinary Bladder Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3273458","article_title":"Deciphering the Interleukin 28B Variants That Better Predict Response to Pegylated Interferon-\u03b1 and Ribavirin Therapy in HCV/HIV-1 Coinfected Patients","article_path":"articles/PMC3273458.md","variant_annotation_id":1444705077,"variant_haplotypes":"rs8103142","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":22328925,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Genotype TT is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C and HIV Infections as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection, Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703531,"variant_haplotypes":"rs1050152","gene":"SLC22A4","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the TT genotype had a decreased likelihood of achieving major molecular response (MMR) within 12 months, as compared to those with the CC or CT genotype. MMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; MMR was a ratio <= 0.1%.","sentence":"Genotype TT is associated with decreased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3279522","article_title":"Common Variants in 40 Genes Assessed for Diabetes Incidence and Response to Metformin and Lifestyle Intervention in the Diabetes Prevention Program","article_path":"articles/PMC3279522.md","variant_annotation_id":1451104700,"variant_haplotypes":"rs8065082","gene":"SLC47A1","drugs":"metformin","pmid":20682687,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by metformin ability to prevent diabetes in people at risk for diabetes. \"At this locus, major allele homozygotes did not benefit from metformin with regard to diabetes prevention, whereas minor allele carriers did\".","sentence":"Genotypes CT + TT is associated with increased response to metformin in people with Glucose Intolerance as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Glucose Intolerance","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4105486","article_title":"Dose-Finding and Pharmacokinetic Study to Optimize the Dosing of Irinotecan According to the UGT1A1 Genotype of Patients With Cancer","article_path":"articles/PMC4105486.md","variant_annotation_id":1185235188,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"SN-38","pmid":24958824,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The dose-adjusted area under the concentration-time curve (AUC) of SN-38 is increased in patients with the *1/*28 or *28/*28 genotype as compared to those with the *1/*1 genotype.","sentence":"UGT1A1 *1/*28 + *28/*28 is associated with increased concentrations of SN-38 in people with Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28 + *28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550280,"variant_haplotypes":"rs362814","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele A is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC1952551","article_title":"Safety of codeine during breastfeeding: Fatal morphine poisoning in the breastfed neonate of a mother prescribed codeine","article_path":"articles/PMC1952551.md","variant_annotation_id":1451156680,"variant_haplotypes":"CYP2D6*2, CYP2D6*2xN","gene":"CYP2D6","drugs":"codeine","pmid":17872605,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Case report of an infant exposed to fatal levels of morphine through breastmilk while the mother was taking codeine/acetaminophen. Genotyping of the mother found her to have a *2/*2xN genotype. Details of the genotyping assay are not given.","sentence":"CYP2D6 *2/*2xN is associated with increased metabolism of codeine in women.","alleles":"*2/*2xN","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981794238,"variant_haplotypes":"rs9394992","gene":"SLC29A1","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy","significance":"no","notes":"Tumor response to therapy and progression free survival did not significantly differ between genotype groups.","sentence":"Genotype CC is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5411211","article_title":"Associations between P2RY12 gene polymorphisms and risks of clopidogrel resistance and adverse cardiovascular events after PCI in patients with acute coronary syndrome","article_path":"articles/PMC5411211.md","variant_annotation_id":1448613393,"variant_haplotypes":"rs6809699","gene":"P2RY12","drugs":"clopidogrel","pmid":28383427,"phenotype_category":"Efficacy","significance":"yes","notes":"in Chinese patients with acute coronary syndrome undergoing PCI. This variant is also called P2RY12 G52T.","sentence":"Genotypes AA + AC is associated with increased resistance to clopidogrel as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4366347","article_title":"Genetic Variation of the Mu Opioid Receptor (OPRM1) and Dopamine D2 Receptor (DRD2) is Related to Smoking Differences in Patients with Schizophrenia but not Bipolar Disorder","article_path":"articles/PMC4366347.md","variant_annotation_id":1450826739,"variant_haplotypes":"rs1800497","gene":"DRD2","drugs":"nicotine","pmid":28548579,"phenotype_category":"Other","significance":"no","notes":"Analysis of the total cohort found no significant difference in number of cigarettes smoked per day between genotype groups.","sentence":"Genotypes AA + AG are not associated with exposure to nicotine in people with Bipolar Disorder or Schizophrenia as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Bipolar Disorder, Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2858245","article_title":"Integration of genetic, clinical, and INR data to refine warfarin dosing","article_path":"articles/PMC2858245.md","variant_annotation_id":1183700730,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":20375999,"phenotype_category":"Dosage","significance":"yes","notes":"Each CYP2C9*2 allele resulted in a 15% (11-19%) decrease in therapeutic dose on Day 4 or 5 of therapy.","sentence":"CYP2C9 *2 is associated with decreased dose of warfarin as compared to CYP2C9 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4181635","article_title":"Clinical significance of UGT1A1 gene polymorphisms on irinotecan-based regimens as the treatment in metastatic colorectal cancer","article_path":"articles/PMC4181635.md","variant_annotation_id":1185235308,"variant_haplotypes":"UGT1A1*1, UGT1A1*6","gene":"UGT1A1","drugs":"irinotecan","pmid":25285015,"phenotype_category":"Efficacy","significance":"no","notes":"Response rates were complete and partial response (CR + PR), or complete and partial response and stable disease (CR + PR + SD). No significant differences between any of the genotypes (*1/*1, *1/*6, *6/*6; rs4148323 GG, AG, AA) were seen for either type of response rate.","sentence":"UGT1A1 *6 is not associated with response to irinotecan in people with Colorectal Neoplasms as compared to UGT1A1 *1.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3016221","article_title":"Genetic variants in the KIF6 region and coronary event reduction from statin therapy","article_path":"articles/PMC3016221.md","variant_annotation_id":981482185,"variant_haplotypes":"rs9462535","gene":"KIF6","drugs":"atorvastatin, pravastatin","pmid":20886236,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype CC is not associated with increased response to atorvastatin or pravastatin.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678341,"variant_haplotypes":"rs1051740","gene":"EPHX1","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was no association between dose (mean daily, or mean maintenance) with the genotype.","sentence":"Genotype CC is not associated with dose of carbamazepine in people with Epilepsy as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113832,"variant_haplotypes":"rs548646","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy. Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4916778","article_title":"Impact of ATM and SLC22A1 Polymorphisms on Therapeutic Response to Metformin in Iranian Diabetic Patients","article_path":"articles/PMC4916778.md","variant_annotation_id":1448123009,"variant_haplotypes":"rs11212617","gene":"ATM","drugs":"metformin","pmid":27386433,"phenotype_category":"Efficacy","significance":"no","notes":"in Iranian patients. Response to metformin was defined by HbA1c and fasting blood sugar (FBS) values.","sentence":"Allele C is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003454,"variant_haplotypes":"rs10841753","gene":"SLCO1B1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928217,"variant_haplotypes":"rs1805054","gene":"HTR6","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479873,"variant_haplotypes":"rs17161983","gene":"CYP3A43","drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171104,"variant_haplotypes":"rs4803419","gene":"CYP2B6","drugs":"S-EDDP","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with concentrations of (S)-EDDP as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3381232","article_title":"Genome-wide Association Identifies the T Gene as a Novel Asthma Pharmacogenetic Locus","article_path":"articles/PMC3381232.md","variant_annotation_id":981475790,"variant_haplotypes":"rs2305089","gene":"TBXT","drugs":"flunisolide","pmid":22538805,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to flunisolide was measured by the difference between prebronchodilator FEV1 off the drug and prebronchodilator FEV1 on the drug. FEV1 off flunisolide was measured during a placebo run-in period, and FEV1 on flunisolide was measured after 8 weeks (for the CAMP population) or 6 weeks (for the ACRN population) of therapy with the drug. Please note that the associated alleles were not specified by letter in the paper, but rather identified as mutant or wild-type. dbSNP was used to assess which alleles were mutant and which were wild-type.","sentence":"Genotype TT is associated with increased response to flunisolide in people with Asthma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4601717","article_title":"Association of a Schizophrenia Risk Variant at the DRD2 Locus With Antipsychotic Treatment Response in First-Episode Psychosis","article_path":"articles/PMC4601717.md","variant_annotation_id":1450823635,"variant_haplotypes":"rs2514218","gene":"DRD2","drugs":"aripiprazole, risperidone","pmid":26320194,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CC genotype had a greater reduction in symptoms over 12 weeks of treatment with either aripiprazole or risperidone.","sentence":"Genotype CC is associated with increased response to aripiprazole or risperidone in people with Psychotic Disorders, schizoaffective disorder or Schizophrenia as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Psychotic Disorder, Other:Schizoaffective disorder, Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3376437","article_title":"Influence of SLCO1B3 haplotype-tag SNPs on docetaxel disposition in Chinese nasopharyngeal cancer patients","article_path":"articles/PMC3376437.md","variant_annotation_id":827784616,"variant_haplotypes":"rs11045585","gene":"SLCO1B3","drugs":"docetaxel","pmid":21995462,"phenotype_category":"Other, Metabolism/PK","significance":"yes","notes":"Significance as part of a haplotype with rs4149118, rs7311358 and rs3834935.","sentence":"Allele G is associated with decreased clearance of docetaxel in people with Nasopharyngeal Neoplasms.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Nasopharyngeal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729240,"variant_haplotypes":"rs12769205","gene":"CYP2C19","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes AG + GG is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5323433","article_title":"Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer","article_path":"articles/PMC5323433.md","variant_annotation_id":1448496718,"variant_haplotypes":"rs1056827","gene":"CYP1B1","drugs":"exemestane","pmid":27549341,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in exemestane concentrations were seen between the three genotypes. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AA + AC are not associated with concentrations of exemestane in women with Breast Neoplasms as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3093079","article_title":"Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients","article_path":"articles/PMC3093079.md","variant_annotation_id":1444710805,"variant_haplotypes":"CYP2D6*1, CYP2D6*41","gene":"CYP2D6","drugs":"4-hydroxytamoxifen, endoxifen, N-desmethyltamoxifen, tamoxifen","pmid":21480951,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Patients (pre- (83%) and postmenopausal (17%)) with ER and/or PR positive breast tumors, which received 20 mg tamoxifen daily. Patients taking CYP2D6 inhibitors were excluded. DNA extracted from blood and screened for the following: *2 (2850C>T; rs16947), *2A (\u20131584C>G), *3 (2549delA; rs35742686), *4 (1846G>A; rs3892097), *5 (CYP2D6del), *6 (1707delT; rs5030655), *7 (2935A>C; rs5030867), *8 (1758G>T), *9 (2615-2617delAAG; rs5030656), *10 (100C>T; rs1065852), *12 (124G>A; rs5030862), *14 (1758G>A), *17 (1023C>T; rs28371706), *29 (1659G>A; rs61736512), *41 (2988G>A; rs28371725) and *xN (dup). [pre-menopausal][post-menopausal] [adjuvant] [DNA source: blood]","sentence":"CYP2D6 *41 is not associated with concentrations of 4-hydroxytamoxifen, endoxifen, N-desmethyltamoxifen and tamoxifen in women with Breast Neoplasms as compared to CYP2D6 *1.","alleles":"*41","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC10876746","article_title":"The impact of folate pathway variants on the outcome of methotrexate therapy in rheumatoid arthritis patients","article_path":"articles/PMC10876746.md","variant_annotation_id":1452376560,"variant_haplotypes":"rs45445694","gene":"TYMS","drugs":"methotrexate","pmid":38311638,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Also, a significant difference was found in TYMS 2R/3R (rs34743033) among the dominant model, p\u2009=\u20090.022, OR\u2009=\u20090.165 (0.035\u20130.771), and the heterozygous genetic model, p\u2009=\u20090.013, OR\u2009=\u20090.129 (0.026\u20130.644).\" rs34743033 is equivalent to rs45445694. Authors label 2R as reference.","sentence":"Genotype (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 is associated with increased clinical benefit to methotrexate in people with Arthritis, Rheumatoid as compared to genotype (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2.","alleles":"(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2","comparison_metabolizer_types":null} +{"pmcid":"PMC2949912","article_title":"New genetic variant that might improve warfarin dose prediction in African Americans","article_path":"articles/PMC2949912.md","variant_annotation_id":1184473273,"variant_haplotypes":"rs1051741","gene":"EPHX1","drugs":"warfarin","pmid":20716240,"phenotype_category":"Dosage","significance":"yes","notes":"in Caucasians. However,this SNP was no longer statistically significantly associated with warfarin dosing after accounting for the number of tag SNPS the authors; evaluated within the EPHX1 gene.","sentence":"Genotype CT is associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC9322346","article_title":"The Impact of CYP2C9*11 Allelic Variant on the Pharmacokinetics of Phenytoin and (S)\u2010Warfarin","article_path":"articles/PMC9322346.md","variant_annotation_id":1451909688,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*11","gene":"CYP2C9","drugs":"warfarin","pmid":35426132,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Effect was for S-warfarin but not R-warfarin. It was also significant for increased halflife of S-warfarin but not R-warfarin.","sentence":"CYP2C9 *1/*11 + *2/*11 is associated with decreased clearance of warfarin in healthy individuals as compared to CYP2C9 *1/*1.","alleles":"*1/*11 + *2/*11","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5346034","article_title":"Effect of UGT2B10, UGT2B17, FMO3, and OCT2 Genetic Variation on Nicotine and Cotinine Pharmacokinetics and Smoking in African Americans","article_path":"articles/PMC5346034.md","variant_annotation_id":1448602085,"variant_haplotypes":"rs61750900","gene":"UGT2B10","drugs":"nicotine","pmid":28178031,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This SNP is not associated with the pharmacokinetic measures of nicotine.","sentence":"Genotype GG is not associated with metabolism of nicotine in people with Tobacco Use Disorder as compared to genotype GT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT","comparison_metabolizer_types":null} +{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356727,"variant_haplotypes":"rs16944","gene":"IL1B","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3505921","article_title":"Influence of Methylenetetrahydrofolate Reductase C677T, A1298C, and G80A Polymorphisms on the Survival of Pediatric Patients with Acute Lymphoblastic Leukemia","article_path":"articles/PMC3505921.md","variant_annotation_id":1451506220,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"methotrexate","pmid":23198157,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CT genotype had better overall survival than patients with the CC or TT genotypes. Variant referred to in the paper as G80A. Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes CC + TT are associated with decreased response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CT.","alleles":"CC + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC2737687","article_title":"CYP2C9*8 is prevalent among African\u2013Americans: implications for pharmacogenetic dosing","article_path":"articles/PMC2737687.md","variant_annotation_id":1445401065,"variant_haplotypes":"rs72547529","gene":"VKORC1","drugs":"warfarin","pmid":19663669,"phenotype_category":"Dosage","significance":"not stated","notes":"3 warfarin resistant g.1331G>A (p.V66M) carriers were identified (1 in ~100 individuals) suggesting this variant is associated with warfarin resistance.","sentence":"Allele T is associated with increased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5727167","article_title":"Identification of two novel genes SLC15A2 and SLCO1B3 associated with maintenance dose variability of warfarin in a Chinese population","article_path":"articles/PMC5727167.md","variant_annotation_id":1449157694,"variant_haplotypes":"rs7311358","gene":"SLCO1B3","drugs":"warfarin","pmid":29234073,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype AA is associated with decreased dose of warfarin as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10298263","article_title":"The Distribution of the Genotypes of ABCB1 and CES1 Polymorphisms in Kazakhstani Patients with Atrial Fibrillation Treated with DOAC","article_path":"articles/PMC10298263.md","variant_annotation_id":1452146140,"variant_haplotypes":"rs8192935","gene":"CES1","drugs":"dabigatran","pmid":37372371,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Our study showed that patients with GG genotype (138.8 \u00b1 100.1 ng/mL) had higher peak plasma concentration of dabigatran than with AA genotype (100.9 \u00b1 59.6 ng/mL), and AG genotype (98.7 \u00b1 72.3 ng/mL) (Kruskal\u2013Wallis test, p = 0.25).\" \"Our study showed that polymorphism rs8192935 in the CES1 gene was significantly associated with plasma concentrations of dabigatran in Kazakhstani NVAF patients.\" In supplementary table S5 significant p values are given for Multinomial Logistic Regression analysis.","sentence":"Genotypes AA + AG is associated with decreased dose-adjusted trough concentrations of dabigatran in people with Atrial Fibrillation as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4752391","article_title":"PHARMACOGENOMIC GENOME-WIDE META-ANALYSIS OF BLOOD PRESSURE RESPONSE TO BETA-BLOCKERS IN HYPERTENSIVE AFRICAN AMERICANS","article_path":"articles/PMC4752391.md","variant_annotation_id":1447676752,"variant_haplotypes":"rs201279313","gene":"SLC25A31","drugs":"atenolol, hydrochlorothiazide, metoprolol","pmid":26729753,"phenotype_category":"Efficacy","significance":"yes","notes":"Study in African Americans","sentence":"Genotype TTA/del is associated with increased response to atenolol, hydrochlorothiazide or metoprolol in people with Hypertension as compared to genotype TTA/TTA.","alleles":"TTA/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TTA/TTA","comparison_metabolizer_types":null} +{"pmcid":"PMC10970167","article_title":"PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis","article_path":"articles/PMC10970167.md","variant_annotation_id":1452433764,"variant_haplotypes":"rs1203844","gene":"CYP3A4, TMEM130","drugs":"apremilast","pmid":38540428,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Allele-based association tests detected 64 SNPs displaying nominal p values < 0.05 (Table 2) including 10 SNPs with p values \u2264 0.01. \" Table 2 shows frequency of minor allele is responders and non-responders. Responder status maybe defined by PASI score improvement greater than 75% after 24\u201336 weeks of treatment.","sentence":"Allele C is associated with increased clinical benefit to apremilast in people with Psoriasis as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC10957942","article_title":"Association of HLA-DRB1 locus with treatment response to abatacept or TNF inhibitors in patients with seropositive rheumatoid arthritis","article_path":"articles/PMC10957942.md","variant_annotation_id":1452428800,"variant_haplotypes":"HLA-DRB1*04:01, HLA-DRB1*04:04, HLA-DRB1*04:05, HLA-DRB1*04:10, HLA-DRB1*10:01","gene":"HLA-DRB1","drugs":"abatacept","pmid":38514707,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Intriguingly, patients with Val11 of HLA-DRB1 SE exhibited a more favorable response to abatacept (OR\u2009=\u20096.46 [1.65\u201343.17], P\u2009=\u20095.4\u2009\u00d7\u200910\u20133)\" \"SE with Val11 (*04:01, *04:04, *04:05, *04:08, *04:10, *10:01)\"","sentence":"HLA-DRB1 *04:01 + *04:04 + *04:05 + *04:10 + *10:01 is associated with increased clinical benefit to abatacept in people with Arthritis, Rheumatoid.","alleles":"*04:01 + *04:04 + *04:05 + *04:10 + *10:01","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC9298338","article_title":"No significant influence of OCT1 genotypes on the pharmacokinetics of morphine in adult surgical patients","article_path":"articles/PMC9298338.md","variant_annotation_id":1451809180,"variant_haplotypes":"rs34130495","gene":"SLC22A1","drugs":"morphine","pmid":34599645,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Analyzed as part of haplotypes with rs12208357, rs34059508 and rs72552763. There was a non-significant trend for patients carrying reduced function alleles to have increased exposure to morphine, but the change in exposure is not large enough to be of clinical importance.","sentence":"Allele A is not associated with exposure to morphine in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10532907","article_title":"Pharmacogenetic Variants Associated with Fluoxetine Pharmacokinetics from a Bioequivalence Study in Healthy Subjects","article_path":"articles/PMC10532907.md","variant_annotation_id":1452260765,"variant_haplotypes":"rs1135840","gene":"CYP2D6","drugs":"fluoxetine","pmid":37763120,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The CYP2D6*10 haplotype, related to decreased CYP2D6 function (poor drug metabolism), was found in only one volunteer (subject 25), based on CYP2D6 rs1065852 (haplotype A/A) and rs11358490 (haplotype C/C). As shown in Table 2, t1/2 was three times higher (106.9 h) for this subject than the overall mean (31.02 h). AUCs and t1/2 were statistically different between genotypes of CYP2D6 rs1065852 (p < 0.001). Stratification of subjects based on CYP2D6 genotypes confirmed the difference in the PK profiles, based on the three SNVs found in this study (rs1065852, rs1135840, and rs28371703)\"","sentence":"Allele C is associated with increased concentrations of fluoxetine in healthy individuals as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5135610","article_title":"Genetic polymorphisms in the long noncoding RNA MIR2052HG offer a pharmacogenomic basis for the response of breast cancer patients to aromatase inhibitor therapy","article_path":"articles/PMC5135610.md","variant_annotation_id":1449002490,"variant_haplotypes":"rs746460","gene":null,"drugs":"anastrozole, exemestane","pmid":27758888,"phenotype_category":"Efficacy","significance":"no","notes":"Patients included postmenopausal women with resected stage I\u2013III breast cancer that was ERa and/or PgR positive and randomized to five years of anastrozole or exemestane. Did not reach statistical significance for GWAS (P<5 x 10^-8).","sentence":"Allele T is not associated with increased response to anastrozole and exemestane in women with Breast Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2042718","article_title":"A novel mutant variant of the CYP2D6 gene (CYP2D6 17) common in a black African population: association with diminished debrisoquine hydroxylase activity","article_path":"articles/PMC2042718.md","variant_annotation_id":1447990796,"variant_haplotypes":"CYP2D6*17","gene":"CYP2D6","drugs":"debrisoquine","pmid":8971426,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"A subject with an debrisoquine MR of 10.5 with is higher than for most EMs and close to the cut off for PM. Sequencing showed that the subject is homozygous for the *17 allele.","sentence":"CYP2D6 *17/*17 is associated with decreased metabolism of debrisoquine.","alleles":"*17/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10565537","article_title":"Effects of CYP3A4 and CYP2C9 genotype on systemic anastrozole and fulvestrant concentrations in SWOG S0226","article_path":"articles/PMC10565537.md","variant_annotation_id":1452234360,"variant_haplotypes":"CYP2C9 poor metabolizer","gene":"CYP2C9","drugs":"fulvestrant","pmid":37615099,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles measured included CYP2C9*2, CYP2C9*3 (or*18), CYP2C9*4, CYP2C9*5, CYP2C9*6, CYP2C9*8, CYP2C9*9, CYP2C9*10, CYP2C9*11, CYP2C9*12, CYP2C9*13, CYP2C9*15, CYP2C9*25 and CYP2C9*27. Alleles and phenotypes were modeled after CPIC. \"participants with low CYP2C9 activity had lower anastrozole concentrations and higher fulvestrant concentrations than participants with high CYP2C9 activity\"","sentence":"CYP2C9 intermediate metabolizer and poor metabolizer is associated with increased concentrations of fulvestrant in people with Breast Neoplasms and Neoplasm Metastasis as compared to CYP2C9 normal metabolizer and ultrarapid metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Breast Neoplasms, Other:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and ultrarapid metabolizer"} +{"pmcid":"PMC4631185","article_title":"Effect of carboxylesterase 1 c.428G\u2009>\u2009A single nucleotide variation on the pharmacokinetics of quinapril and enalapril","article_path":"articles/PMC4631185.md","variant_annotation_id":1446899452,"variant_haplotypes":"rs71647871","gene":"CES1","drugs":"quinapril","pmid":25919042,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was a fixed-order crossover study with two phases: following overnight fasting participants took a 10 mg dose of quinapril and, after a washout period of at least 1 week, a 10 mg dose of enalapril with 150 ml water in the morning and EDTA-prepared blood samples were drawn before and up to 24 hr, and up to 48 h after ingestion for the determination of the concentrations of quinapril and its metabolite quinaprilat, as well as enalapril and its metabolite enalaprilat. Urine was collected up to 12 h after quinapril and enalapril. Only AUC (0-infinity) and amount excreted in urine of enalaprilat were significantly different between genotype groups. Other PK parameters that were tested and not significantly different were Cmax, Tmax, T(1/2), and renal clearance.","sentence":"Genotype CT is not associated with metabolism of quinapril in healthy individuals as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5744175","article_title":"Pharmacokinetics and Pharmacodynamics of Meloxicam in East Asian Populations: The Role of Ethnicity on Drug Response","article_path":"articles/PMC5744175.md","variant_annotation_id":1451092660,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"meloxicam","pmid":29024493,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The population PK model predicted CL for meloxicam was decreased by 15%, 29%, 40%, 55%, and 80% in subjects with CYP2C9*1/*2, *2/*2, *1/*3, *2/*3, and *3/*3 genotypes, respectively, compared with that in subjects with the CYP2C9*1/*1 genotype. The effect of *2 on metabolism is moderate compared to *3.","sentence":"CYP2C9 *3 + *2 are associated with decreased metabolism of meloxicam in healthy individuals as compared to CYP2C9 *1/*1.","alleles":"*3 + *2","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3164274","article_title":"UGT1A6 and UGT2B15 Polymorphisms and Acetaminophen Conjugation in Response to a Randomized, Controlled Diet of Select Fruits and Vegetables","article_path":"articles/PMC3164274.md","variant_annotation_id":1185000439,"variant_haplotypes":"UGT1A6*1a, UGT1A6*2a","gene":"UGT1A6","drugs":"acetaminophen","pmid":21666065,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Acetaminophen gluc/acetaminophen ratio was lower in *1/*1 subjects than *1/*2 and *2/*2 subjects. Please note UGT1A6*2 was determine using rs2070959 and rs1105879 and no subtype was classified in the study.","sentence":"UGT1A6 *2a/*2a + *1a/*2a is associated with increased metabolism of acetaminophen in healthy individuals as compared to UGT1A6 *1a.","alleles":"*2a/*2a + *1a/*2a","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1a","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767335,"variant_haplotypes":"rs10495197","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele T is not associated with trough concentration of vancomycin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6745302","article_title":"A functional variant in the serotonin receptor 7 gene (HTR7), rs7905446, is associated with good response to SSRIs in bipolar and unipolar depression","article_path":"articles/PMC6745302.md","variant_annotation_id":1450372715,"variant_haplotypes":"rs7905446","gene":"HTR7","drugs":"escitalopram","pmid":30874608,"phenotype_category":"Efficacy","significance":"yes","notes":"The GG and GT genotypes were associated with treatment remission.","sentence":"Genotype TT is associated with decreased response to escitalopram in people with Depression as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC4220464","article_title":"Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins","article_path":"articles/PMC4220464.md","variant_annotation_id":1184997439,"variant_haplotypes":"rs2900478","gene":"SLCO1B1","drugs":"hmg coa reductase inhibitors","pmid":25350695,"phenotype_category":"Efficacy","significance":"yes","notes":"Carriers of this variant respond to statins with a 1.6% smaller LDL-C lowering effect per minor allele compared with non-carriers.","sentence":"Allele A is associated with decreased response to hmg coa reductase inhibitors as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4025175","article_title":"The influence of CYP3A, PPARA, and POR genetic variants on the pharmacokinetics of tacrolimus and cyclosporine in renal transplant recipients","article_path":"articles/PMC4025175.md","variant_annotation_id":1184470301,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"tacrolimus","pmid":24658827,"phenotype_category":"Metabolism/PK","significance":"no","notes":"A single steady-state concentration of tacrolimus was collected for each patient 2-7 wks post-transplant and compared to dose of tacrolimus administered to patients at Oslo University Hospital. Reported concentrations are \"steady-state dose-adjusted concentration\" of tacrolimus. Steady-state is defined as at least 3 days after last dose adjustment for Tac and 4 days for cyclosporine.","sentence":"Allele A is not associated with metabolism of tacrolimus in people with Kidney Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163277,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104826,"variant_haplotypes":"rs11172113","gene":"LRP1","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele C is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511080,"variant_haplotypes":"rs2472677","gene":"NR1I2","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of CC, CT and TT did not influence donepezil clearance in a covariate model.","sentence":"Genotype TT is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5887212","article_title":"Cholinergic receptor nicotinic alpha 5 subunit polymorphisms are associated with smoking cessation success in women","article_path":"articles/PMC5887212.md","variant_annotation_id":1450928783,"variant_haplotypes":"rs2036527","gene":"CHRNA5","drugs":"bupropion, nicotine, varenicline","pmid":29621993,"phenotype_category":"Efficacy","significance":"no","notes":"No significant effect of genotype on likelihood of male subjects being abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation.","sentence":"Allele A is not associated with response to bupropion, nicotine or varenicline in men with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in men with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2666924","article_title":"An Evaluation of \u03bc-Opioid Receptor (OPRM1) as a Predictor of Naltrexone Response in the Treatment of Alcohol Dependence: Results From the Combined Pharmacotherapies and Behavioral Interventions for Alcohol Dependence (COMBINE) Study","article_path":"articles/PMC2666924.md","variant_annotation_id":769171526,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"naltrexone","pmid":18250251,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AG + GG are associated with increased response to naltrexone in people with Alcoholism as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3378722","article_title":"Prediction of Warfarin Dose Reductions in Puerto Rican Patients, Based on Combinatorial CYP2C9 and VKORC1 Genotypes","article_path":"articles/PMC3378722.md","variant_annotation_id":1184510103,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":22274142,"phenotype_category":"Dosage","significance":"yes","notes":"This variant is analyzed along with CYP2C9 variants *2, *3, *5.","sentence":"Genotypes CT + TT is associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767345,"variant_haplotypes":"rs7414551","gene":"PLEKHN1","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele A is not associated with trough concentration of vancomycin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6328871","article_title":"Effects of OPRM1 and ABCB1 gene polymorphisms on the analgesic effect and dose of sufentanil after thoracoscopic-assisted radical resection of lung cancer","article_path":"articles/PMC6328871.md","variant_annotation_id":1450931989,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"sufentanil","pmid":30455395,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the GG genotype had significantly increased sufentanil consumption compared to patients with the AA or AG genotypes, while those with the AG genotype had significantly increased compared to patients with the AA genotype.","sentence":"Genotypes AG + GG are associated with increased dose of sufentanil in people with Lung Neoplasms and Pain, Postoperative as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"\"Other:Lung Neoplasms\", \"Other:Pain, Postoperative\"","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6562943","article_title":"Patients carrying CYP2C8*3 have shorter systemic paclitaxel exposure","article_path":"articles/PMC6562943.md","variant_annotation_id":1450186374,"variant_haplotypes":"SLCO1B1*5, SLCO1B1*15","gene":"SLCO1B1","drugs":"paclitaxel","pmid":30520341,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as measured by time above threshold concentration. PM/IM (one or two copies of *5 or *15) = 12.12 h, NM (*1/*1) = 10.15 h,","sentence":"SLCO1B1 *5 + *15 is associated with increased exposure to paclitaxel in women with Breast Neoplasms.","alleles":"*5 + *15","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5651327","article_title":"Pretransplant 4\u03b2\u2010hydroxycholesterol does not predict tacrolimus exposure or dose requirements during the first days after kidney transplantation","article_path":"articles/PMC5651327.md","variant_annotation_id":1448635420,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":28603840,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A4 *22 is not associated with trough concentration of tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1.","alleles":"*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359540,"variant_haplotypes":"rs10770140","gene":"TH","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of methadone in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3749354","article_title":"The CTRB1/2 Locus Affects Diabetes Susceptibility and Treatment via the Incretin Pathway","article_path":"articles/PMC3749354.md","variant_annotation_id":1452876560,"variant_haplotypes":"rs7202877","gene":"CTRB1, CTRB2","drugs":"Dipeptidyl peptidase 4 (DPP-4) inhibitors","pmid":23674605,"phenotype_category":"Efficacy","significance":"yes","notes":"\"In total, 527 patients were included, from the Dutch DCS West-Friesland and the U.K. GoDARTS studies (Supplementary Table 2). In both cohorts, patients carrying the G allele of rs7202877 near CTRB1/2 showed a significantly smaller decrease in A1C levels after DPP-4 inhibitor treatment compared with TT carriers (n = 354) (Table 2 and Supplementary Tables 5\u20137). Meta-analysis of both cohorts showed that carriers of the G allele had an absolute 0.51 \u00b1 0.16% (5.6 \u00b1 1.7 mmol/mol) smaller decrease in A1C after adjustment for potential confounders (P = 0.0015) (Table 2). \" \" In contrast to those treated with a DPP-4 inhibitor, carriers of the rs7202877 G allele treated with a GLP-1 RA showed a response comparable to carriers of the TT genotype (P = 0.58) \"","sentence":"Genotypes GG + GT is associated with decreased response to Dipeptidyl peptidase 4 (DPP-4) inhibitors in people with Diabetes Mellitus, Type 2 as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5478306","article_title":"Correlation of MDR1 gene polymorphisms with anesthetic effect of sevoflurane\u2013remifentanil following pediatric tonsillectomy","article_path":"articles/PMC5478306.md","variant_annotation_id":1448639468,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"remifentanil, sevoflurane","pmid":28614221,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype AA is not associated with response to remifentanil and sevoflurane in children with tonsillectomy as compared to genotypes AC + CC.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Other:tonsillectomy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3656883","article_title":"Novel Associations of VKORC1 Variants with Higher Acenocoumarol Requirements","article_path":"articles/PMC3656883.md","variant_annotation_id":1185002324,"variant_haplotypes":"rs7200749","gene":"VKORC1","drugs":"acenocoumarol","pmid":23691226,"phenotype_category":"Dosage","significance":"yes","notes":"16 vs 14 mg/week.","sentence":"Genotypes AA + AG is associated with increased dose of acenocoumarol as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1451165260,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with AUC, AUC0-12 when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together. Only P-values for AUC presented here.","sentence":"UGT1A1 *28 is not associated with increased metabolism of selumetinib in healthy individuals as compared to UGT1A1 *1.","alleles":"*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2812115","article_title":"CYP2C9*1B Promoter Polymorphisms, in Linkage with CYP2C19*2, Affect Phenytoin Autoinduction of Clearance and Maintenance Dose","article_path":"articles/PMC2812115.md","variant_annotation_id":769250167,"variant_haplotypes":"rs12782374","gene":"CYP2C9","drugs":"phenytoin","pmid":19855097,"phenotype_category":"Other, Metabolism/PK","significance":"not stated","notes":"in human liver samples from individuals who did not have CYP2C9*2(rs1799853 T) or *3 (rs1057910 C). Measured by ratio of formation of (S)- and (R)-p-HPPH in vitro.","sentence":"Genotype AG is associated with increased metabolism of phenytoin as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11435314","article_title":"An Investigational Study on the Role of CYP2D6, CYP3A4 and UGTs Genetic Variation on Fesoterodine Pharmacokinetics in Young Healthy Volunteers","article_path":"articles/PMC11435314.md","variant_annotation_id":1452617167,"variant_haplotypes":"rs10929302","gene":"UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9","drugs":"fesoterodine","pmid":39338398,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The UGT1A rs10929302 A/A genotype was associated with a lower AUC/DW compared to the G/A and G/G genotypes (puv = 0.05 and puv = 0.024, respectively; \u03b2 = \u22120.441, R2 =0.410, pmv = 0.029) and a higher Cl/F compared to the G/A genotype (puv = 0.027; \u03b2 = 0.436, R2 =0.409, pmv = 0.031).\"","sentence":"Genotype AA is associated with increased clearance of fesoterodine in healthy individuals as compared to genotype AG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4168390","article_title":"Characterizing variability in warfarin dose requirements in children using modelling and simulation","article_path":"articles/PMC4168390.md","variant_annotation_id":1184654374,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":24330000,"phenotype_category":"Dosage, Efficacy","significance":"not stated","notes":"A model was created to predict maintenance doses for children of different ages, all with a baseline INR of 1 and a target INR of 2.5, based on longitudinal data from children taking warfarin. Due to the nature of the model, the quantitative CYP2C9 allele effects on clearance were assumed to be the same as for adults - n=2 children had the *2/*3 genotype in the data cohort. CYP2C9 genotype, VKORC1 genotype, bodyweight, age, baseline INR, target INR and time since initiation of therapy were all found to be significant causes of warfarin dose variability in children. This association is based on a table presenting results from the model predicting warfarin dose for children of 2, 8 and 14 years old with different rs9923231 genotype and CYP2C9 genotype presented in the paper. CYP2C9*2 was defined as rs1799853 and *3 as rs1057910.","sentence":"CYP2C9 *2/*3 is associated with decreased dose of warfarin in children with Heart Diseases as compared to CYP2C9 *1/*1.","alleles":"*2/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC11049954","article_title":"Association of CYP3A4-392A/G, CYP3A5-6986A/G, and ABCB1-3435C/T Polymorphisms with Tacrolimus Dose, Serum Concentration, and Biochemical Parameters in Mexican Patients with Kidney Transplant","article_path":"articles/PMC11049954.md","variant_annotation_id":1452457600,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":38674430,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The findings of this study suggest that the CYP3A5-6986A/G GG genotype is associated with a four-fold-increased likelihood of experiencing serum TAC concentration greater than 15 ng/mL after one month of KT. Co-occurrence of the CYP3A5-6986A/G GG genotype and use of TAC-increasing drugs correlates with a nine-fold-increased susceptibility to increased TAC concentration exceeding 15ng/mL one month after KT. Therefore, close monitoring of these patients is essential due to their increased susceptibility to TAC toxicity.\" Alleles complemented.","sentence":"Genotype CC is associated with increased concentrations of tacrolimus in people with Kidney Transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6411694","article_title":"Nicotine oxidation by genetic variants of CYP2B6 and in human brain microsomes","article_path":"articles/PMC6411694.md","variant_annotation_id":1450375324,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"nicotine","pmid":30906561,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"In vitro study which looked at metabolism of nicotine to nicotine iminium and nornicotine.","sentence":"CYP2B6 *6 is associated with decreased metabolism of nicotine as compared to CYP2B6 *1.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5908314","article_title":"Pharmacogenetics-based area-under-curve model can predict efficacy and adverse events from axitinib in individual patients with advanced renal cell carcinoma","article_path":"articles/PMC5908314.md","variant_annotation_id":1449310596,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"axitinib","pmid":29682213,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors develop a prediction model and calculated area under the concentration curve (AUC) using 6 SNPs (rs17868323, rs3832043, rs2231142, rs2032582, rs1045642, rs35305980) was compared with actual AUC in 16 patients prospectively which significantly correlated with the objective response rate (P = 0.0002), hand-foot syndrome, P = 0.0055 and hypothyroidism, P = 0.0381, and correlated with actual AUC (P < 0.0001) - the validation study, calculated AUC prior to axitinib treatment precisely predicted actual AUC after axitinib treatment (P = 0.0066).","sentence":"Allele T is associated with concentrations of axitinib in people with Carcinoma, Renal Cell as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5505550","article_title":"Efficacy of piroxicam for postoperative pain after lower third molar surgery associated with CYP2C8*3 and CYP2C9","article_path":"articles/PMC5505550.md","variant_annotation_id":1448820093,"variant_haplotypes":"rs10509681","gene":"CYP2C8","drugs":"piroxicam","pmid":28740425,"phenotype_category":"Efficacy","significance":"not stated","notes":"Subjects had at least one impacted lower third molar extracted. Measurements were taken of 1) postoperative mouth opening (millimeters) was measured pre- and post-op on days 2 & 7 2) and swelling measurements due to edema were recorded and 3) subjective measures of pain. None were associated with the genotype.","sentence":"Allele T is not associated with response to piroxicam as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4797547","article_title":"Influence of G-protein \u03b2-Polypeptide 3 C825T Polymorphism on Antihypertensive Response to Telmisartan and Amlodipine in Chinese Patients","article_path":"articles/PMC4797547.md","variant_annotation_id":1447680321,"variant_haplotypes":"rs5443","gene":"GNB3","drugs":"telmisartan","pmid":26712426,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotype TT is associated with decreased response to telmisartan in people with Essential hypertension as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC6786370","article_title":"Influences of an NR1I2 polymorphism on heterogeneous antiplatelet reactivity responses to clopidogrel and clinical outcomes in acute ischemic stroke patients","article_path":"articles/PMC6786370.md","variant_annotation_id":1450123149,"variant_haplotypes":"rs12456693","gene":"SLC14A2","drugs":"clopidogrel","pmid":30487649,"phenotype_category":"Efficacy","significance":"yes","notes":"This variant is associated with increased H4 concentration.","sentence":"Allele T is associated with increased response to clopidogrel in people with Coronary Artery Disease as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3093079","article_title":"Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients","article_path":"articles/PMC3093079.md","variant_annotation_id":1444710685,"variant_haplotypes":"CYP2D6*1, CYP2D6*5, CYP2D6*10","gene":"CYP2D6","drugs":"4-hydroxytamoxifen, tamoxifen","pmid":21480951,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Patients (pre- (83%) and postmenopausal (17%)) with ER and/or PR positive breast tumors, which received 20 mg tamoxifen daily. Patients taking CYP2D6 inhibitors were excluded. DNA extracted from blood and screened for the following: *2 (2850C>T; rs16947), *2A (\u20131584C>G), *3 (2549delA; rs35742686), *4 (1846G>A; rs3892097), *5 (CYP2D6del), *6 (1707delT; rs5030655), *7 (2935A>C; rs5030867), *8 (1758G>T), *9 (2615-2617delAAG; rs5030656), *10 (100C>T; rs1065852), *12 (124G>A; rs5030862), *14 (1758G>A), *17 (1023C>T; rs28371706), *29 (1659G>A; rs61736512), *41 (2988G>A; rs28371725) and *xN (dup). [pre-menopausal][post-menopausal] [adjuvant] [DNA source: blood]","sentence":"CYP2D6 *10 + *5 is not associated with concentrations of 4-hydroxytamoxifen or tamoxifen in women with Breast Neoplasms as compared to CYP2D6 *1.","alleles":"*10 + *5","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767299,"variant_haplotypes":"rs35684750","gene":"AIDA","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele C is not associated with trough concentration of vancomycin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6891932","article_title":"Effects of SLCO1B1 polymorphisms on plasma estrogen concentrations in women with breast cancer receiving aromatase inhibitors exemestane and letrozole","article_path":"articles/PMC6891932.md","variant_annotation_id":1450934625,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*5","gene":"SLCO1B1","drugs":"estrone sulfate","pmid":31190621,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"prior to treatment with aromatase inhibitors.","sentence":"SLCO1B1 *5 is associated with increased estrone sulfate in women with Breast Neoplasms as compared to SLCO1B1 *1/*1.","alleles":"*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":null,"multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4872305","article_title":"Significant Effect of Polymorphisms in CYP2D6 and ABCC2 on Clinical Outcomes of Adjuvant Tamoxifen Therapy for Breast Cancer Patients","article_path":"articles/PMC4872305.md","variant_annotation_id":1444709550,"variant_haplotypes":"CYP2D6*1, CYP2D6*10","gene":"CYP2D6","drugs":"4-hydroxytamoxifen, endoxifen","pmid":20124171,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with breast cancer receiving adjuvant tamoxifen monotherapy. 98 patients were screened for CYP2D6*4 (1846G>A), CYP2D6*6 (1707delT), CYP2D6*10 (100C>T), CYP2D6*14B (1758G>A), CYP2D6*18 (4125_4133dupGTGCCCACT), CYP2D6*21 (2573_2574insC), CYP2D6*36 (gene conversion to CYP2D7 in exon 9), and CYP2D6*41 (2988G>A) and whole-gene deletion (CYP2D6*5) and duplications (CYP2D6*1-*1, CYP2D6*10-*10, CYP2D6*10-36, and CYP2D6*36-*36). Found genotypes are not specifically reported except for *10. The results were reported as wildtype compared to variant allele. [pre-menopausal][post-menopausal] [adjuvant] [DNA source: blood]","sentence":"CYP2D6 *10 is associated with decreased concentrations of 4-hydroxytamoxifen and endoxifen in women with Breast Neoplasms as compared to CYP2D6 *1.","alleles":"*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3734199","article_title":"XRCC3 Thr241Met Polymorphism and Clinical Outcomes of NSCLC Patients Receiving Platinum-Based Chemotherapy: A Systematic Review and Meta-Analysis","article_path":"articles/PMC3734199.md","variant_annotation_id":1184511789,"variant_haplotypes":"rs861539","gene":"XRCC3","drugs":"Platinum compounds","pmid":23940523,"phenotype_category":"Efficacy","significance":"not stated","notes":null,"sentence":"Allele A is associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11094496","article_title":"Contribution of genetic polymorphism in ABCB1 to individual variations of imatinib plasma levels in patients with gastrointestinal stromal tumor","article_path":"articles/PMC11094496.md","variant_annotation_id":1452478100,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"imatinib","pmid":38756645,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"For ATP-binding cassette subfamily B member 1 (ABCB1), the IM trough concentration (1,271.09\u00b1306.69 ng/mL) of rs1045642 C carriers (CT + CC) was significantly higher than of patients with the TT genotype (1,106.60\u00b1206.05 ng/mL) (P=0.008) (Figure 1, Table 2).\"","sentence":"Genotypes AG + GG is associated with increased trough concentration of imatinib in people with Gastrointestinal Stromal Tumors as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Gastrointestinal Stromal Tumors","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3401172","article_title":"An Acenocoumarol Dosing Algorithm Using Clinical and Pharmacogenetic Data in Spanish Patients with Thromboembolic Disease","article_path":"articles/PMC3401172.md","variant_annotation_id":1448259328,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"acenocoumarol","pmid":22911785,"phenotype_category":"Dosage","significance":"not stated","notes":"This variant was significantly associated with acenocoumarol dose, and explained 3.6% of the variability in dose. Clinical variables (Age, BMI, Enzyme inducers status and Amiodarone status) explained 22% of the variability in dose. This study developed an algorithm for acenocoumarol dosing using clinical and pharmacogenetic data.","sentence":"Allele T is associated with dose of acenocoumarol.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729129,"variant_haplotypes":"rs35930845","gene":"CYP2B6","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes CG + GG is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4356257","article_title":"Translesion Polymerase Genes Polymorphisms and Haplotypes Influence Survival of Osteosarcoma Patients","article_path":"articles/PMC4356257.md","variant_annotation_id":1447675725,"variant_haplotypes":"rs462779","gene":"REV3L","drugs":"cisplatin","pmid":25748439,"phenotype_category":"Efficacy","significance":"yes","notes":"Outcomes measured as event-free survival (p=0.056) and overall survival (p=0.018). Manuscript gives alleles as T and C.","sentence":"Genotypes AG + GG are associated with decreased response to cisplatin in people with Osteosarcoma as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4433569","article_title":"Novel SNP in CYP2C9 is associated with changes in warfarin clearance and CYP2C9 expression levels in African Americans","article_path":"articles/PMC4433569.md","variant_annotation_id":1444608101,"variant_haplotypes":"rs7089580","gene":"CYP2C9","drugs":"warfarin","pmid":25499099,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype AT is associated with increased clearance of warfarin as compared to genotype AA.","alleles":"AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5101708","article_title":"Low heritability in pharmacokinetics of talinolol: a pharmacogenetic twin study on the heritability of the pharmacokinetics of talinolol, a putative probe drug of MDR1 and other membrane transporters","article_path":"articles/PMC5101708.md","variant_annotation_id":1448612403,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"talinolol","pmid":27825374,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was a twin study of monozygotic and dizygotic twins.","sentence":"Allele A is not associated with clearance of talinolol in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436913,"variant_haplotypes":"rs7294","gene":"PRSS53, VKORC1","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 3.3E-3.","sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451105040,"variant_haplotypes":"rs7640543","gene":null,"drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele A is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699030,"variant_haplotypes":"rs11103167","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161371,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*2xN","gene":"CYP2D6","drugs":"methadone","pmid":21589866,"phenotype_category":"Efficacy","significance":"yes","notes":"CYP2D6 ultrarapid metabolizers were significantly overrepresented in responders compared to non-responders, as defined by drug misuse during methadone maintenance therapy. No details about which specific variants/alleles were tested for.","sentence":"CYP2D6 *1/*2xN + *2/*2xN are associated with increased response to methadone in people with Opioid-Related Disorders as compared to CYP2D6 *1/*1.","alleles":"*1/*2xN + *2/*2xN","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451974227,"variant_haplotypes":"rs3760364","gene":"ITGA2B","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype AT is not associated with increased resistance to clopidogrel in people with Coronary Disease as compared to genotype TT.","alleles":"AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC8973308","article_title":"Susceptibility to thiopurine toxicity by TPMT and NUDT15 variants in Colombian children with acute lymphoblastic leukemia","article_path":"articles/PMC8973308.md","variant_annotation_id":1451769040,"variant_haplotypes":"rs1800460","gene":"TPMT","drugs":"mercaptopurine","pmid":35431360,"phenotype_category":"Dosage","significance":"no","notes":"Authors stated \"Although no statistically significant associations were identified... In the case of rs1800460, of the six heterozygous patients, three required a dosage decrease, and two were also heterozygous for rs1142345.\" No TT homozygotes were observed. \"Studies with a larger population size are needed\"","sentence":"Genotype CT is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3805522","article_title":"Evaluating Predictive Pharmacogenetic Signatures of Adverse Events in Colorectal Cancer Patients Treated with Fluoropyrimidines","article_path":"articles/PMC3805522.md","variant_annotation_id":1184471945,"variant_haplotypes":"rs67376798","gene":"DPYD","drugs":"capecitabine, fluorouracil","pmid":24167597,"phenotype_category":"Dosage","significance":"yes","notes":"Clinical data about adverse events were collected from patient records and laboratory charts for 12 weeks after the initiation of therapy. Delays or reductions in the administration of 5'FU or capecitabine due to adverse events were recorded as primary outcomes, and grade 3,4,5 adverse events were analyzed as secondary outcomes. \"Dose\" here refers to dose modification. Note: the reported parameters for this SNP are really for what the authors refer to as a \"DPYD signature\" that includes any minor alleles for the following SNPs in DPYD: rs3918290 (T), rs67376798 (A), rs75017182(C), rs56038477 (T).","sentence":"Genotype AT is associated with dose of capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype TT.","alleles":"AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4177494","article_title":"IL28B polymorphism genotyping as predictor of rapid virologic response during interferon plus ribavirin treatment in hepatitis C virus genotype 1 patients","article_path":"articles/PMC4177494.md","variant_annotation_id":1445296829,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":25278709,"phenotype_category":"Efficacy","significance":"no","notes":"No significant effect of this SNP on null-R (not achieving a hepatitis C virus (HCV) RNA drop of >= 1 log at week 4) was seen; logistic regression analysis.","sentence":"Genotype CC is not associated with response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166325,"variant_haplotypes":"rs362272","gene":"HTT","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele G is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5282793","article_title":"CYP2B6 Genotype Guided Dosing of Propofol Anesthesia in the Elderly based on Nonparametric Population Pharmacokinetic Modeling and Simulations","article_path":"articles/PMC5282793.md","variant_annotation_id":1448592786,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"propofol","pmid":28154789,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Population pharmacokinetic modeling. Patients with the AA or AG genotype had a significantly decreased elimination rate from the central compartment (Ke) as compared to those with the GG genotype. Patients with the AA or AG genotype also had a decreased clearance of propofol as compared to those with the GG genotype, though no statistical information was provided. Propofol anesthesia.","sentence":"Genotypes AA + AG is associated with decreased clearance of propofol as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2750008","article_title":"A single tumour necrosis factor haplotype influences the response to adalimumab in rheumatoid arthritis","article_path":"articles/PMC2750008.md","variant_annotation_id":1444693768,"variant_haplotypes":"rs1799724","gene":"TNF","drugs":"adalimumab","pmid":17673491,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in genotype frequencies was seen between those who were responders to treatment and those who were non-responders. Response defined as a 50% percent response to adalimumab therapy according to the American College of Rheumatology criteria (ACR50 responders) at week 12 after treatment initiation.","sentence":"Genotype CC is not associated with response to adalimumab in people with Arthritis, Rheumatoid as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5478306","article_title":"Correlation of MDR1 gene polymorphisms with anesthetic effect of sevoflurane\u2013remifentanil following pediatric tonsillectomy","article_path":"articles/PMC5478306.md","variant_annotation_id":1448639423,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"remifentanil, sevoflurane","pmid":28614221,"phenotype_category":"Efficacy","significance":"yes","notes":"The GG genotype was associated with a decreased visual analog scale score at 1, 2, 4, and 8 hours post-operative (all P<.05).; The GG genotype was associated with shorter times of induction, respiration recovery, eyeopening,; and extubation (all P<.05).; Ramsay sedation scores were lower in the GG genotype (less sedation), while Face, Legs, Activity, Cry, Consolability scale (FLACC) scores were higher (increased pain) (both P<.05).","sentence":"Genotype GG is associated with increased response to remifentanil and sevoflurane in children with tonsillectomy as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Other:tonsillectomy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC10159199","article_title":"Effect of ERCC1 polymorphisms on the response to platinum-based chemotherapy: A systematic review and meta-analysis based on Asian population","article_path":"articles/PMC10159199.md","variant_annotation_id":1452094860,"variant_haplotypes":"rs2298881","gene":"ERCC1","drugs":"Platinum compounds","pmid":37141338,"phenotype_category":"Efficacy","significance":"no","notes":"Authors perform meta-analysis using several models looking at response and OS and subgroup analysis by cancer type.","sentence":"Genotypes AA + AC is not associated with increased clinical benefit to Platinum compounds in people with Neoplasms as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4387236","article_title":"Genome-wide Association Study of Virologic Response with Efavirenz- or Abacavir-containing Regimens in AIDS Clinical Trials Group Protocols","article_path":"articles/PMC4387236.md","variant_annotation_id":1296598723,"variant_haplotypes":"rs4803419","gene":"CYP2B6","drugs":"efavirenz","pmid":25461247,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association with virologic failure is found for the combinations of CYP2B6 polymorphisms (rs3745274, rs28399499, and rs4803419).","sentence":"Allele C is not associated with response to efavirenz in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5871545","article_title":"Variants in the CYP2B6 3\u2032UTR alter in vitro and in vivo CYP2B6 activity: potential role of microRNAs","article_path":"articles/PMC5871545.md","variant_annotation_id":1448997587,"variant_haplotypes":"rs70950385","gene":"CYP2B6","drugs":"efavirenz","pmid":28960269,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The rs70950385 and rs1042389 variant alleles were associated with a decrease in CYP2B6 activity when comparing Plasma efavirenz AUC0-48 ratios (8-OH-EFV/EFV)) between AG/AG and CA/CA genotypes (32.7%; p<0.05).","sentence":"Genotype CA/CA is associated with decreased metabolism of efavirenz in healthy individuals as compared to genotype AG/AG.","alleles":"CA/CA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG/AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3584248","article_title":"CYP2D6 genotypes, endoxifen levels, and disease recurrence in 224 Filipino and Vietnamese women receiving adjuvant tamoxifen for operable breast cancer","article_path":"articles/PMC3584248.md","variant_annotation_id":1444930388,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*5, CYP2D6*10, CYP2D6*41","gene":"CYP2D6","drugs":"endoxifen","pmid":23476897,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"No information on menopausal status or if tamoxifen only treatment. No co-treatment with CYP2D6 inhibitors CYP2D6 alleles *2, *3, *4, *5, *6, *10, and *41 are genotyped with predeveloped TaqMan Genotyping Assays. Genotypes were categorized as normal (fully functional CYP2D6 alleles: *1 and *2 -*1/*1, *1/*2, *2/*2), intermediate (alleles associated with reduced enzyme activity: heterozygous for *10 and *41-*1/*10, *2/*10, *1/*41), and slow (homozygous for *10, *41 variants and one or more non-functional null alleles: *3-*6-*10/*10, *10/*41, *1/*5, *2/*5, *5/*10). [pre-menopausal][post-menopausal] [adjuvant] [DNA source: leukocytes] [HWE: Vietnamese *1, 2, 4, 5, 10, 41 yes Filipino *1 and *2 no rest yes] An additional nested case-control study (n=48) showed an increased risk of recurrence at low and high (>70 ng/ml) endoxifen concentrations.","sentence":"CYP2D6 *10/*10 + *10/*41 + *1/*5 + *2/*5 + *5/*10 are associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*1 + *1/*2 + *2/*2.","alleles":"*10/*10 + *10/*41 + *1/*5 + *2/*5 + *5/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2 + *2/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC3384479","article_title":"Vitamin K antagonists in children with heart disease: height and VKORC1 genotype are the main determinants of the warfarin dose requirement","article_path":"articles/PMC3384479.md","variant_annotation_id":982047979,"variant_haplotypes":"CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"fluindione","pmid":22130800,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2C9 *2 + *3 is not associated with dose of fluindione in children as compared to CYP2C9 *1/*1.","alleles":"*2 + *3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501747,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as measured by a greater half-life. This association was only significant in the African American sub-cohort and not in Caucasian patients. The *3 allele occurred at a lower frequency in African Americans compared to Caucasians.","sentence":"CYP3A5 *3/*3 is associated with decreased clearance of carbamazepine in people with Epilepsy as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438520,"variant_haplotypes":"rs10929302","gene":"UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 4.5E-3.","sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4868001","article_title":"Frequencies of CYP2C9 polymorphisms in North Indian population and their association with drug levels in children on phenytoin monotherapy","article_path":"articles/PMC4868001.md","variant_annotation_id":1449565832,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"phenytoin","pmid":27179628,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients who were heterozygous for the CYP2C9*3 allele had significantly higher levels of phenytoin than patients who did not carry the *3 allele. No patients with the *3/*3 diplotype were identified.","sentence":"CYP2C9 *1/*3 + *2/*3 are associated with increased concentrations of phenytoin in children with as compared to CYP2C9 *1/*1 + *1/*2.","alleles":"*1/*3 + *2/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376638,"variant_haplotypes":"rs2652511","gene":"SLC6A3","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2888980","article_title":"A Candidate Gene Analysis of Methylphenidate Response in Attention-Deficit/Hyperactivity Disorder","article_path":"articles/PMC2888980.md","variant_annotation_id":1450372933,"variant_haplotypes":"rs1051312","gene":"SNAP25","drugs":"methylphenidate","pmid":19858760,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680859,"variant_haplotypes":"rs3732360","gene":"NR1I2","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype CC is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC9601332","article_title":"The Pharmacogenetics of Cannabis in the Treatment of Chronic Pain","article_path":"articles/PMC9601332.md","variant_annotation_id":1451930520,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"cannabinoids","pmid":36292717,"phenotype_category":"Efficacy","significance":"yes","notes":"\"CC homozygous patients and CT heterozygotes for the ABCB1 gene were associated with an average pain reduction of approximately 2 VAS points, compared to the 1.3 VAS points of TT homozygotes.\"","sentence":"Genotypes AG + GG is associated with increased clinical benefit to cannabinoids in people with Pain as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6714673","article_title":"Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients","article_path":"articles/PMC6714673.md","variant_annotation_id":1449250920,"variant_haplotypes":"rs699664","gene":"GGCX","drugs":"warfarin","pmid":28049362,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC8540141","article_title":"Variants in COMT, CYP3A5, CYP2B6, and ABCG2 Alter Quetiapine Pharmacokinetics","article_path":"articles/PMC8540141.md","variant_annotation_id":1452609623,"variant_haplotypes":"CYP3A4*1, CYP3A4*3","gene":"CYP3A4","drugs":"quetiapine","pmid":34683865,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"CYP3A4 *1/*3 subject (n=1) showed a higher quetiapine dose/weight-adjusted AUC and t1/2 compared to the mean of the CYP3A4*1/*1 subjects.","sentence":"CYP3A4 *1/*3 is associated with increased concentrations of quetiapine in healthy individuals as compared to CYP3A4 *1/*1.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC8100460","article_title":"CYP3A5 and UGT1A9 Polymorphisms Influence Immunosuppressive Therapy in Pediatric Kidney Transplant Recipients","article_path":"articles/PMC8100460.md","variant_annotation_id":1451652240,"variant_haplotypes":"rs6714486","gene":"UGT1A9","drugs":"mycophenolic acid","pmid":33967795,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"patients carrying the UGT1A9-275A variant allele had lower AUC0\u201312h/MPA-D (0.053 [IQR 0.040\u20130.100] ug*hr/ml/mg/m2) than patients carrying only the UGT1A9-275T ancestral allele genotype (0.117 [IQR 0.058\u20130.150]ug*hr/ml/mg/m2) with a difference of marginal significance \"","sentence":"Genotypes AA + AT is associated with decreased dose-adjusted trough concentrations of mycophenolic acid in children with Kidney Transplantation as compared to genotype TT.","alleles":"AA + AT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4943245","article_title":"Individualized Angiotensin\u2010Converting Enzyme (ACE)\u2010Inhibitor Therapy in Stable Coronary Artery Disease Based on Clinical and Pharmacogenetic Determinants: The PERindopril GENEtic (PERGENE) Risk Model","article_path":"articles/PMC4943245.md","variant_annotation_id":1447964466,"variant_haplotypes":"rs5182","gene":"AGTR1","drugs":"perindopril","pmid":27021566,"phenotype_category":"Efficacy","significance":"yes","notes":"Three SNPS are combined for a risk score ranging between 0 and 6: rs275651, rs5182, and rs12050217. Patients with risk scores of 0 and 1 and treated with perindopril had absolute risk reductions of 7.50% (95% CI: 3.69-11.73) and 4.30% (95% CI: 2.00-6.53), respectively. Nonsignificant estimated absolute risk increase of 1.32% was observed in patients with a PGXscore >=3. Lower risk score had better response to treatment by primary endpoint of cardiovascular mortality, nonfatal MI, and resuscitated cardiac arrest. Part of PERGENE trial for cardiovascular outcomes.","sentence":"Genotypes CC + CT is associated with decreased response to perindopril in people with Coronary Artery Disease as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144219,"variant_haplotypes":"rs61123830","gene":"GRAMD1B","drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3225067","article_title":"Pharmacogenetic Predictors of Methylphenidate Dose-Response in Attention-Deficit/Hyperactivity Disorder","article_path":"articles/PMC3225067.md","variant_annotation_id":1450376675,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"methylphenidate","pmid":22024001,"phenotype_category":"Efficacy","significance":"not stated","notes":"Vanderbilt ADHD Parent Rating Scales and Vanderbilt ADHD Teacher Rating Scales - hyperactive-impulsive domain score was derived by totaling scores from the nine hyperactive-impulsive symptoms. A main effect on hyperactive-impulsive domain scores was detected for the ADRA2A polymorphism ( p = .003), with G homozygotes displaying higher symptom levels on placebo and continuing at these higher levels as MPH doses increased. The ADRA2A-by-dose interaction fell short of the threshold for statistical significance ( p > .025) with a p=0.03.","sentence":"Genotype GG is associated with decreased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotypes CC + CG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} +{"pmcid":"PMC2709885","article_title":"Genetic variation of CYP2C19 affects both pharmacokinetic and pharmacodynamic responses to clopidogrel but not prasugrel in aspirin-treated patients with coronary artery disease","article_path":"articles/PMC2709885.md","variant_annotation_id":1184469857,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*8, CYP2C19*17","gene":"CYP2C19","drugs":"clopidogrel","pmid":19429918,"phenotype_category":"Efficacy, Metabolism/PK","significance":"yes","notes":"Active metabolite exposure was significantly lower with PM than with EM. Patients were also treated with aspirin. There were 37 EM (by genotype) and 9 PM (by genotype). Dosage was 600 mg loading/75 mg maintenance.","sentence":"CYP2C19 *1/*2 + *1/*8 + *2/*2 (assigned as poor metabolizer phenotype) is associated with decreased metabolism of clopidogrel in people with Coronary Artery Disease as compared to CYP2C19 *1/*1 + *1/*17 + *17/*17 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*8 + *2/*2","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17 + *17/*17","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5883590","article_title":"Effect of CYP3 A4, CYP3 A5 and ABCB1 gene polymorphisms on the clinical efficacy of tacrolimus in the treatment of nephrotic syndrome","article_path":"articles/PMC5883590.md","variant_annotation_id":1449748454,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"tacrolimus","pmid":29615122,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AA, AT or TT genotype had a higher effectiveness of clinical treatment as compared to those with the CT, AC or CC genotypes. Effective response included patients with complete or partial remission, and ineffective response included patients with no remission or recurrence. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AA + TT is associated with increased response to tacrolimus in people with Nephrotic Syndrome as compared to genotypes CC + CT.","alleles":"AA + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Nephrotic Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359160,"variant_haplotypes":"rs6347","gene":"SLC6A3","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele C is not associated with response to heroin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5510236","article_title":"The Effects of Inherited NUDT15 Polymorphisms on Thiopurine Active Metabolites in Japanese Children with Acute Lymphoblastic Leukemia","article_path":"articles/PMC5510236.md","variant_annotation_id":1448624596,"variant_haplotypes":"NUDT15*1, NUDT15*2, NUDT15*3","gene":"NUDT15","drugs":"mercaptopurine","pmid":28445187,"phenotype_category":"Toxicity","significance":"yes","notes":"The mean mercaptopurine (MP) dosages were 48.0 \u00b1 21.2, 34.1 \u00b1 17.0, and 3.2 \u00b1 1.2 mg/m2 for the normal-activity (*1/*1 n=44), intermediate-activity (*1/*2 + *1/*3 + *1/*5 n=10), and low-activity (*2/*3 n=1) NUDT15 groups, respectively (P =4.8\u00d710-4). TGN (thioguanine nucleotides, not further specified) levels was correlated negatively with the number of NUDT15 risk alleles (P=5.3\u00d710-6) and this association remained significant after adjusting for MP dosage (P = 1.7 \u00d7 10 - 6). The ratio of DNA-TG to TGN (i.e. the percent of TGN converted to DNA-TG) was significantly higher in NUDT15-deficient patients (P=3.6\u00d7 10 - 9).","sentence":"NUDT15 *2/*3 are associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to NUDT15 *1/*1.","alleles":"*2/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6939828","article_title":"Identification of Cytochrome P450 Polymorphisms in Burn Patients and Impact on Fentanyl Pharmacokinetics: A Pilot Study","article_path":"articles/PMC6939828.md","variant_annotation_id":1451099067,"variant_haplotypes":"CYP2D6*1, CYP2D6*9","gene":"CYP2D6","drugs":"fentanyl","pmid":30371861,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Single patient identified with the CYP2D6*9 allele. Clearance of fentanyl in this patient was significantly lower than in WT patients.","sentence":"CYP2D6 *9 is associated with decreased clearance of fentanyl in people with Burns as compared to CYP2D6 *1.","alleles":"*9","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Burns","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC1978168","article_title":"The Effect of CYP2D6 polymorphisms on the Response to Pain Treatment for Pediatric Sickle Cell Pain Crisis","article_path":"articles/PMC1978168.md","variant_annotation_id":982046931,"variant_haplotypes":"CYP2D6*1, CYP2D6*17","gene":"CYP2D6","drugs":"codeine","pmid":17517247,"phenotype_category":"Efficacy","significance":"yes","notes":"Pediatric patients with severe sickle cell disease who have failed codeine therapy for a pain crisis while taking hydroxyurea were found to be more likely to have a reduced function allele (including *4, *5, *6, *17, *40) as compared to those with mild disease, likely due to a decreased conversion of codeine to morphine. Allele frequencies were not reported. Reduced function alleles were grouped for analysis.","sentence":"CYP2D6 *17 is associated with decreased response to codeine in children with Anemia, Sickle Cell as compared to CYP2D6 *1.","alleles":"*17","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Anemia, Sickle Cell","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5901893","article_title":"Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC5901893.md","variant_annotation_id":1450930479,"variant_haplotypes":"rs3784921","gene":"TXNDC11","drugs":"hydrochlorothiazide","pmid":29650764,"phenotype_category":"Efficacy","significance":"yes","notes":"The G allele was associated with a reduced systolic blood pressure response to hydrochlorothiazide.","sentence":"Allele G is associated with decreased response to hydrochlorothiazide in people with Hypertension as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359340,"variant_haplotypes":"rs10064525","gene":"SLC6A3","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of heroin in people with Heroin Dependence as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983268,"variant_haplotypes":"rs4737771","gene":"CRH","drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here (C). Remission considered to be score < or equal to 7 at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele C is associated with decreased response to antidepressants in people with Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3383686","article_title":"Meta-Analysis on Pharmacogenetics of Platinum-Based Chemotherapy in Non Small Cell Lung Cancer (NSCLC) Patients","article_path":"articles/PMC3383686.md","variant_annotation_id":982046448,"variant_haplotypes":"rs3212986","gene":"ERCC1","drugs":"Platinum compounds","pmid":22761669,"phenotype_category":"Efficacy","significance":"no","notes":"No significant relationship between genotype and drug response was detected.","sentence":"Allele C is not associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930689,"variant_haplotypes":"rs950776","gene":"CHRNB4","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele C is not associated with exposure to nicotine in men as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6370172","article_title":"Correlation of CYP2C19 genotype with plasma voriconazole exposure in South-western Chinese Han patients with invasive fungal infections","article_path":"articles/PMC6370172.md","variant_annotation_id":1450372517,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":30653146,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients who were intermediate metabolizers (*1/*2, *1/*3 or *2/*17) had increased trough concentrations (C0) and dose-adjusted trough concentrations (C0/D) as compared to those who were normal metabolizers (*1/*1). However, when each genotype was assessed separately (*1/*2 vs *1/*1 and *1/*3 vs *1/*1), no significant association was found for C0 or C0/D.","sentence":"CYP2C19 *1/*2 + *1/*3 + *2/*17 is associated with decreased metabolism of voriconazole in people with Mycoses as compared to CYP2C19 *1/*1.","alleles":"*1/*2 + *1/*3 + *2/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Mycoses","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6361127","article_title":"Effects of UGT1A1 Genotype on the Pharmacokinetics, Pharmacodynamics, and Toxicities of Belinostat Administered by 48-Hour Continuous Infusion in Patients With Cancer","article_path":"articles/PMC6361127.md","variant_annotation_id":1447672760,"variant_haplotypes":"UGT1A1*1, UGT1A1*60","gene":"UGT1A1","drugs":"belinostat","pmid":26313268,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Belinostat half-life time was increased in carriers of the *60 allele (*1/*60 n=11, *60/*60 n=5) as compared to those with the *1/*1 genotype. Significant results were also seen when only including patients who received a belinostat dose greater than 400 mg/m2/24h (*1/*60 n=7; *60/*60 n=4). No significant association was seen for AUC, Cmax or clearance. Patients received belinostat in combination with cisplatin and etoposide. p < 0.01 was considered statistically significant.","sentence":"UGT1A1 *1/*60 + *60/*60 is associated with decreased metabolism of Belinostat in people with Neoplasms.","alleles":"*1/*60 + *60/*60","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815073,"variant_haplotypes":"rs711355","gene":"TJP1","drugs":"risperidone","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of T alleles present in a patient was negatively associated with PGI score. Please note that this variant is in high linkage disequilibrium with rs785423 and rs813676.","sentence":"Allele T is associated with increased response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359144,"variant_haplotypes":"rs1042098","gene":"SLC6A3","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele G is not associated with response to heroin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC8890732","article_title":"Effects of cytochrome P450 2B6 and constitutive androstane receptor genetic variation on Efavirenz plasma concentrations among HIV patients in Kenya","article_path":"articles/PMC8890732.md","variant_annotation_id":1451706780,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"efavirenz","pmid":35235559,"phenotype_category":"Metabolism/PK","significance":"no","notes":"this was significant in preliminary analysis but not in the multivariate analysis. Described as 785A>G","sentence":"Allele G is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5684285","article_title":"Influence of genetic co-factors on the population pharmacokinetic model for clopidogrel and its active thiol metabolite","article_path":"articles/PMC5684285.md","variant_annotation_id":1449002191,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"clopidogrel","pmid":28914344,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Full pharmacokinetic profile was obtained from 17 subjects at 0.5, 1, 2, 3, and 4 h post clopidogrel dose. From 46 subjects samples were collected at 0.5 and 2 h or 1 and 3 h post-dose. Subjects were receiving PCI or elective coronarography.","sentence":"Allele A is not associated with exposure to clopidogrel as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3925114","article_title":"Therapeutic Drug Monitoring and Pharmacogenetic Study of HIV-Infected Ethnic Chinese Receiving Efavirenz-Containing Antiretroviral Therapy with or without Rifampicin-Based Anti-Tuberculous Therapy","article_path":"articles/PMC3925114.md","variant_annotation_id":1184233832,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":24551111,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the GT genotype had higher plasma efavirenz concentrations compared to patients with the GG genotype: 2.50 mg/L [0.98-10.00] for GG genotype vs 3.47 mg/L [1.35-8.73] for GT genotype.","sentence":"Genotype GT is associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2855513","article_title":"RRM1 single nucleotide polymorphism -37C\u2192A correlates with progression-free survival in NSCLC patients after gemcitabine-based chemotherapy","article_path":"articles/PMC2855513.md","variant_annotation_id":1184175240,"variant_haplotypes":"rs9937","gene":"RRM1","drugs":"carboplatin, gemcitabine","pmid":20226083,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype AA is not associated with response to carboplatin and gemcitabine in people with Carcinoma, Non-Small-Cell Lung as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479790,"variant_haplotypes":"rs10458360","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11755583","article_title":"ABCB1 Polymorphism Is Associated with Higher Carbamazepine Clearance in Children","article_path":"articles/PMC11755583.md","variant_annotation_id":1452852860,"variant_haplotypes":"rs762551","gene":"CYP1A2","drugs":"carbamazepine","pmid":39846525,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"In addition to the ABCB1 genotype, the present study confirmed that the male sex, the CYP1A2 \u2212163A/A genotype and higher CBZ daily dosage are associated with increased CBZ clearance\". The article does not contain much information about CYP1A2 since it focuses on the association with ABCB1. Annotation done on rs762551 (-163C>A). PharmVar released an updated CYP1A2 nomenclature 12/2024. At this point, -163 C>A was included in 26 core alleles with *30 being the SNP by itself. The 25 other core alleles include the -163 C>A SNP in addition to amino acid changes.","sentence":"Genotype AA is associated with increased clearance of carbamazepine in children with Epilepsy.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2928561","article_title":"A polymorphism in the VKORC1-regulator calumenin predicts higher warfarin doses in African-Americans","article_path":"articles/PMC2928561.md","variant_annotation_id":637879876,"variant_haplotypes":"rs339097","gene":"CALU","drugs":"warfarin","pmid":20200517,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele G is associated with increased dose of warfarin.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166100,"variant_haplotypes":"rs4627790","gene":"CMTM8","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC9028965","article_title":"Influence of Receptor Polymorphisms on the Response to \u03b1-Adrenergic Receptor Blockers in Pheochromocytoma Patients","article_path":"articles/PMC9028965.md","variant_annotation_id":1451770080,"variant_haplotypes":"rs10515807","gene":"ADRA1B","drugs":"doxazosin, phenoxybenzamine","pmid":35453646,"phenotype_category":"Dosage","significance":"no","notes":"\"The G alleles of rs10515807 in the ADRA1B gene and rs553668 in the ADRA2A gene both caused a three times lower risk of being in a higher dosage step than allele A\" \"However, none of these significances survived the multiple testing correction.\"","sentence":"Allele G is associated with decreased dose of doxazosin or phenoxybenzamine in people with Pheochromocytoma or Paraganglioma as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pheochromocytoma, Other:Paraganglioma","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4757974","article_title":"Tafenoquine treatment of Plasmodium vivax malaria: suggestive evidence that CYP2D6 reduced metabolism is not associated with relapse in the Phase 2b DETECTIVE trial","article_path":"articles/PMC4757974.md","variant_annotation_id":1447954876,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*4, CYP2D6*9, CYP2D6*10, CYP2D6*41","gene":"CYP2D6","drugs":"primaquine","pmid":26888075,"phenotype_category":"Efficacy","significance":"yes","notes":"Please not patients are co-treated with chloroquine. relapse frequency was higher in PQ-treated subjects who were IM (50 %) than in EM subjects (17 %), p = 0.05, odds ratio = 9.18 (95 % CI 1.00, 8). Genotyped with Affymetrix\u00ae DMET-Plus array. Phenotype grouping: poor metabolizers two no function alleles; intermediate metabolizers (IM) one null and one decreased function allele or two decreased function alleles, or one null allele and one normal allele; extensive metabolizers (EM) if they carried two normal alleles or one normal allele and one deficient allele.","sentence":"CYP2D6 *4/*41 + *1/*4 + *10/*10 + *10/*41 + *2/*4 + *41/*41 is associated with decreased response to primaquine in people with Malaria as compared to CYP2D6 *1/*10 + *1/*41 + *1/*9 + *2/*10 + *2/*41 + *1/*1 + *1/*2 + *2/*2.","alleles":"*4/*41 + *1/*4 + *10/*10 + *10/*41 + *2/*4 + *41/*41","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Malaria","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*10 + *1/*41 + *1/*9 + *2/*10 + *2/*41 + *1/*1 + *1/*2 + *2/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC5590735","article_title":"Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin","article_path":"articles/PMC5590735.md","variant_annotation_id":1448994443,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"efavirenz","pmid":28886044,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This is stated in the paper, but supporting data is not shown.; Allele also known as CYP3A5*3.","sentence":"Allele C is not associated with concentrations of efavirenz in children with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC7718230","article_title":"Association of clozapine-related metabolic disturbances with CYP3A4 expression in patients with schizophrenia","article_path":"articles/PMC7718230.md","variant_annotation_id":1451684680,"variant_haplotypes":"CYP3A4 low activity","gene":"CYP3A4","drugs":"n-desmethylclozapine","pmid":33277605,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Authors state that \"strong association was observed between norclozapine formation and CYP3A4 expression\", where low expression of CYP3A4 in patients\u2019 peripheral leukocytes was associated with higher clozapine concentrations and lower n-desmethylclozapine (also known as norclozapine), compared to normal/high expression of CYP3A4 in patients\u2019 peripheral leukocytes. Authors did genotype for some CYP1A2 and CYP3A4/5 alleles but these \"alleles did not explain the inter-individual differences in CYP3A4 mRNA levels\" and \"hepatic CYP1A2 and CYP3A4 activities were therefore estimated from mRNA levels in patients\u2019 leukocytes, categorizing the patients into low, normal and high expresser groups\"","sentence":"CYP3A4 low activity is associated with decreased concentrations of n-desmethylclozapine in people with Schizophrenia as compared to CYP3A4 high activity.","alleles":null,"specialty_population":null,"metabolizer_types":"low activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"high activity"} +{"pmcid":"PMC6432766","article_title":"Sorafenib is an Inhibitor of UGT1A1 but is Metabolized by UGT1A9: Implications of Genetic Variants on Pharmacokinetics and Hyperbilirubinemia","article_path":"articles/PMC6432766.md","variant_annotation_id":1446907186,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"sorafenib","pmid":22307138,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"patients carrying only UGT1A1*28, and possibly UGT1A9*3, alleles are at an; increased risk of elevated sorafenib concentrations, as well as a greater incidence of HFSR. However, there remained a group of patients carrying UGT1A1*28/*28 and ABCC2 -24C>T that had abnormally low sorafenib AUC, thereby complicating this analysis.","sentence":"UGT1A1 *1/*28 + *28/*28 are associated with increased exposure to sorafenib in people with Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28 + *28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5903228","article_title":"The impact of diuretic use and ABCG2 genotype on the predictive performance of a published allopurinol dosing tool","article_path":"articles/PMC5903228.md","variant_annotation_id":1449165252,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"allopurinol","pmid":29341237,"phenotype_category":"Dosage","significance":"yes","notes":"ABCG2 genotype and diuretic use explained 53% of the variability in prediction error.","sentence":"Allele T is associated with increased dose of allopurinol in people with Gout as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Gout","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6980920","article_title":"Early Tacrolimus Concentrations After Lung Transplant are Predicted by Combined Clinical and Genetic Factors and Associated with Acute Kidney Injury","article_path":"articles/PMC6980920.md","variant_annotation_id":1451118200,"variant_haplotypes":"CYP3A5*1, CYP3A5*3, CYP3A5*6, CYP3A5*7","gene":"CYP3A5","drugs":"tacrolimus","pmid":31513279,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients who were poor metabolizers had roughly 50% higher tacrolimus concentration:dose ratio (CDR) values compared with; intermediate and extensive metabolizers, consistent with reduced tacrolimus metabolism. Absolute tacrolimus concentrations were higher in these patients as well. \"A model with clinical and pharmacogenetic factors explained 42% of concentration variance compared with 19% for pharmacogenetic factors only.\" \"Early tacrolimus exposure variability is explained in part by CYP3A5 genotype, but clinical factors accounted for substantial residual variability.\"","sentence":"CYP3A5 *3/*3 + *6/*6 + *7/*7 + *3/*6 + *3/*7 + *6/*7 (assigned as poor metabolizer phenotype) are associated with decreased metabolism of tacrolimus in people with lung transplantation as compared to CYP3A5 *1/*1 + *1/*3 + *1/*6 + *1/*7 (assigned as intermediate metabolizer and normal metabolizer phenotype) .","alleles":"*3/*3 + *6/*6 + *7/*7 + *3/*6 + *3/*7 + *6/*7","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3 + *1/*6 + *1/*7","comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} +{"pmcid":"PMC6989102","article_title":"Assessing the clinical impact of CYP2C9 pharmacogenetic variation on phenytoin prescribing practice and patient response in an integrated health system","article_path":"articles/PMC6989102.md","variant_annotation_id":1450969200,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"phenytoin","pmid":31461080,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Compared to CYP2C9 extensive metabolizers, low-intermediate/poor metabolizers had a 21.3-pg/mL increase (95% CI: 13.6\u201329.0pg/mL; P<0.01)","sentence":"CYP2C9 *1/*3 + *2/*2 + *2/*3 + *3/*3 are associated with increased concentrations of phenytoin as compared to CYP2C9 *1/*1.","alleles":"*1/*3 + *2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5496345","article_title":"Pharmacogenetic evaluation to assess breakthrough psychosis with aripiprazole long-acting injection: a case report","article_path":"articles/PMC5496345.md","variant_annotation_id":1449140243,"variant_haplotypes":"rs1799732","gene":"DRD2","drugs":"aripiprazole","pmid":28673279,"phenotype_category":"Efficacy","significance":"not stated","notes":"A 51 y.o African-American man with schizoaffective disorder, depressive and post-traumatic stress disorder was referred to a community mental health center to address medication non-adherence and lack of medication effectiveness. The patient began treatment with long-acting injectable (LAI) aripiprazole (400 mg) every 4-weeks plus 30 mg/day of oral aripiprazole, which was reduced to 15 mg/day 2-weeks post-injection. 8 weeks later psychiatric symptoms improved and over 12-weeks, dose was reduced to 5 mg/day. Within 4-weeks of this dosing strategy, auditory hallucinations returned and worsened. Oral aripiprazole dose increased to 7.5 mg/day with improvement in symptoms but at 2-week and 3 week follow-ups auditory hallucinations returned so aripiprazole LAI frequency increased to every 3-weeks (and 7.5 mg/day oral). Pharmacogenetic testing revealed the patient to carry the rs1799732 (-141C/ Del) variant (without complement to the + chromosomal strand) and he was switched to 882 mg/3 weeks of injectable aripiprazole lauroxil without oral aripiprazole in December of 2015 and as of February 2017 continues to tolerate the aripiprazole lauroxil and reports not needing oral aripiprazole.","sentence":"Genotype G/del is associated with decreased response to aripiprazole in people with schizoaffective disorder.","alleles":"G/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizoaffective disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11012255","article_title":"Single Nucleotide Polymorphisms of CYP3A4 and CYP3A5 in Romanian Kidney Transplant Recipients: Effect on Tacrolimus Pharmacokinetics in a Single-Center Experience","article_path":"articles/PMC11012255.md","variant_annotation_id":1452443463,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"tacrolimus","pmid":38610733,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Concerning the CYP3A4*1.001 allele, the C0/D ratio exhibited a statistically significant difference between carriers and non-carriers across different periods (overall p = 0.016, during 1\u201314 days p = 0.015, during 31\u201360 days p = 0.011, and beyond 60 days p = 0.015).\" No CC were observed.","sentence":"Genotype CT is associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC9536193","article_title":"Germline Polymorphisms as Biomarkers of Tumor Response in Colorectal Cancer Patients Treated with Anti-EGFR Monoclonal Antibodies: A Systematic Review and Meta-Analysis","article_path":"articles/PMC9536193.md","variant_annotation_id":1449165394,"variant_haplotypes":"rs61764370","gene":"KRAS","drugs":"cetuximab, panitumumab","pmid":27897268,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis with 5 studies. The authors did not provide the exact number of patients but stated that \"the median number of patients per analysis was 110 (range 50 - 740)\". Most definitions of response were variations of the RECIST criteria. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4155516","article_title":"Voriconazole plasma concentrations in immunocompromised pediatric patients vary by CYP2C19 diplotypes","article_path":"articles/PMC4155516.md","variant_annotation_id":1184748512,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"voriconazole","pmid":25084200,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"*1/*2 is determined as *1/*2A and *1/*2B. Significantly higher trough concentrations (adjusted for daily dose) were observed in patients with the *1/*2A or *1/*2B diplotypes. None of these patients had therapeutic concentrations. CYP2C19*17 was defined as rs12248560 c.-806C>T, *2A as rs4244285 c.681G>A, *2B as rs4244285 and rs17878459 c.276G>C, and *1 as none of these variants.","sentence":"CYP2C19 *1/*2 (assigned as intermediate metabolizer phenotype) is associated with increased dose-adjusted trough concentrations of voriconazole in children with Neoplasms as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2","specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928156,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"The A allele was initially significantly more frequent in patients designated as non-responders to risperidone (i.e. <50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.","sentence":"Allele A is associated with decreased response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4201132","article_title":"Gene Variants in CYP2C19 Are Associated with Altered In Vivo Bupropion Pharmacokinetics but Not Bupropion-Assisted Smoking Cessation Outcomes","article_path":"articles/PMC4201132.md","variant_annotation_id":1184985811,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"bupropion","pmid":25187485,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Healthy volunteers were given 150 mg of bupropion once a day for 7 days. On day 7 plasma samples were taken every 4 hours for a 24-hour period as well as a complete urine sample. The steady-state plasma area under the plasma concentration-time curve for bupropion, erythrohydrobupropion and theohydrobupropion or hydroxybupropion did not significantly differ between the CYP2C19*17 allele as compared to the CYP2C19*1.","sentence":"CYP2C19 *17 is not associated with exposure to bupropion in healthy individuals as compared to CYP2C19 *1.","alleles":"*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4560372","article_title":"Association between CXCL10 and DPP4 Gene Polymorphisms and a Complementary Role for Unfavorable IL28B Genotype in Prediction of Treatment Response in Thai Patients with Chronic Hepatitis C Virus Infection","article_path":"articles/PMC4560372.md","variant_annotation_id":1446904199,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":26339796,"phenotype_category":"Efficacy","significance":"yes","notes":"PEG-interferon alfa (2a and b) was co-administered with ribavirin. Response was assessed by sustained virological response (SVR) percent by genotype. HCV RNA <400,000 IU/ml, age, and low stage liver fibrosis were also independently associated with SVR.","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b or ribavirin in people with Hepatitis C, Chronic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5526237","article_title":"Association between the XRCC1 polymorphisms and clinical outcomes of advanced NSCLC treated with platinum-based chemotherapy: a meta-analysis based on the PRISMA statement","article_path":"articles/PMC5526237.md","variant_annotation_id":1448640016,"variant_haplotypes":"rs1799782","gene":"XRCC1","drugs":"Platinum compounds","pmid":28743242,"phenotype_category":"Efficacy","significance":"yes","notes":"Pooled odds ratios (ORs) were performed for an allele model, a homozygous model, a heterozygous model, a recessive model and a dominant model. The association was only significant for response rate with the recessive model, but was not associated with overall survival or progression free survival.","sentence":"Allele G is associated with decreased response to Platinum compounds in people with Lung Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4356640","article_title":"Evaluation of CYP2D6 enzyme activity using a Dextromethorphan Breath Test in Women Receiving Adjuvant Tamoxifen","article_path":"articles/PMC4356640.md","variant_annotation_id":1444697908,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4, CYP2D6*9, CYP2D6*10, CYP2D6*41","gene":"CYP2D6","drugs":"endoxifen","pmid":25714002,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"The patients were treated with tamoxifen. Neither tamoxifen, desmethyltamoxifen, or hydroxytamoxifen pharmacokinetics were found to differ by CYP2D6 genotype.The study found that the CYP2D6 genotype was positively correlated with endoxifen steady-state concentrations at 3 month (r=0.47, P<0.0001, n=57), at 6 month (r=0.56, P<0.0001, n=54) and the ratio endoxifen/desmethyltamoxifen at 3 month (r=0.60, P<0.0001, n=57) and the 6 month (r=0.61, P<0.0001). The article describes a CYP2D6 genotype association without reporting how the metabolizer categories were group together. The study had patients with ultrarapid, extensive, intermediate and poor metabolizer phenotype.","sentence":"CYP2D6 *1/*1 + *2/*2 + *1/*2 (assigned as normal metabolizer phenotype) is associated with increased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 *3/*41 + *4/*9 + *4/*10 + *4/*41 + *3/*4 + *4/*4.","alleles":"*1/*1 + *2/*2 + *1/*2","specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*41 + *4/*9 + *4/*10 + *4/*41 + *3/*4 + *4/*4","comparison_metabolizer_types":null} +{"pmcid":"PMC5548439","article_title":"Genetic coding variants in the niacin receptor, hydroxyl-carboxylic acid receptor 2 (HCAR2), and response to niacin therapy","article_path":"articles/PMC5548439.md","variant_annotation_id":1448635792,"variant_haplotypes":"rs2454727","gene":"HCAR2","drugs":"niacin","pmid":28628560,"phenotype_category":"Efficacy","significance":"yes","notes":"The study compared statin + placebo treated patients with statin + extended release niacin treated patients from the from the Atherothrombosis Intervention in Metabolic Syndrome with Low HDL/High Triglycerides and Impact on Global Health Outcomes (AIM-HIGH) trial. In White patients, the reduction in lipoprotein (a) [Lp(a)] in response to niacin was greater in subjects with the CC genotype.","sentence":"Genotypes CT + TT is associated with decreased response to niacin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4169411","article_title":"Thymidylate Synthase Genotype-Directed Chemotherapy for Patients with Gastric and Gastroesophageal Junction Cancers","article_path":"articles/PMC4169411.md","variant_annotation_id":1184886879,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"fluorouracil, leucovorin, oxaliplatin","pmid":25232828,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to fluorouracil, leucovorin and oxaliplatin in people with Esophageal Neoplasms and Stomach Neoplasms as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasm of esophagus, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2950972","article_title":"Effects of Opioid Receptor Gene Variation on Targeted Nalmefene Treatment in Heavy Drinkers","article_path":"articles/PMC2950972.md","variant_annotation_id":1449161492,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"nalmefene","pmid":18537939,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to nalmefene in people with Alcoholism as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451973968,"variant_haplotypes":"rs67562832","gene":"PIK3CA","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with increased resistance to clopidogrel in people with Coronary Disease as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3753327","article_title":"Warfarin Anticoagulant Therapy: A Southern Italy Pharmacogenetics-Based Dosing Model","article_path":"articles/PMC3753327.md","variant_annotation_id":1183697705,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":23990957,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP was presented as VKORC1 1173C>T. Patients carrying the A allele showed significantly lower doses of warfarin as compared to patients with the wildtype genotype, GG.","sentence":"Genotypes AA + AG is associated with decreased dose of warfarin in people with Cardiovascular Diseases as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767372,"variant_haplotypes":"rs35822937","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele G is not associated with trough concentration of vancomycin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3858547","article_title":"High imatinib dose overcomes insufficient response associated with ABCG2 haplotype in chronic myelogenous leukemia patients","article_path":"articles/PMC3858547.md","variant_annotation_id":1184512509,"variant_haplotypes":"rs12505410","gene":"ABCG2","drugs":"imatinib","pmid":24123600,"phenotype_category":"Efficacy","significance":"yes","notes":"As part of a haplotype with rs2725252: those with the G-C haplotype (rs12505410-rs2725252) had a significantly higher cumulative incidence major molecular response (CI-MMR) as compared to those with any other haplotype (i.e. G-A, T-C, T-A). This study was done in an exploratory cohort (n=105) and a validation cohort (n=239); within the validation cohort, patients were either taking a 400mg/day dose of imatinib (n=132) or a 600mg/day dose (n=107). Results were NOT significant for those taking a 600mg/day dose. Please note that alleles for rs2725252 have been complemented to the plus chromosomal strand.","sentence":"Allele G is associated with increased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166140,"variant_haplotypes":"rs929740","gene":"ARHGEF28","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele G is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3674704","article_title":"IL28B expression depends on a novel TT/-G polymorphism which improves HCV clearance prediction","article_path":"articles/PMC3674704.md","variant_annotation_id":1444706410,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2b, ribavirin","pmid":23712427,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype is associated with decreased incidence of sustained virological response (SVR; OR: 0.37, 95%CI:[0.23\u20130.59], P=2.47E-5, multivariate analysis) when compared to CT/CC genotypes. However, when rs368234815 and rs12979860 were introduced in the same logistic model, the TT genotype was associated with increased incidence of SVR (OR: 3.41, 95%CI:[1.01\u201311.4], P=0.0477). Hence, the polarity of the association between rs12979860-TT genotype and SVR is questionable.","sentence":"Genotype TT is not associated with response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4366347","article_title":"Genetic Variation of the Mu Opioid Receptor (OPRM1) and Dopamine D2 Receptor (DRD2) is Related to Smoking Differences in Patients with Schizophrenia but not Bipolar Disorder","article_path":"articles/PMC4366347.md","variant_annotation_id":1450826752,"variant_haplotypes":"rs1800497","gene":"DRD2","drugs":"nicotine","pmid":28548579,"phenotype_category":"Other","significance":"no","notes":"Subgroup analysis of schizophrenia patients only found no significant difference in the number of cigarettes smoked per day between the genotype groups. However, the authors noted that female schizophrenia patients with the GG genotype reported smoking significantly more cigarettes per day than male schizophrenia patients carrying the A allele (p=0.28)","sentence":"Genotypes AA + AG are not associated with exposure to nicotine in people with Schizophrenia as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451105025,"variant_haplotypes":"rs734312","gene":"WFS1","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele G is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2722908","article_title":"Estimation of the Warfarin Dose with Clinical and Pharmacogenetic Data","article_path":"articles/PMC2722908.md","variant_annotation_id":655387565,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"warfarin","pmid":19228618,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4296935","article_title":"Warfarin Dosage Response Related Pharmacogenetics in Chinese Population","article_path":"articles/PMC4296935.md","variant_annotation_id":1444694721,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":25594941,"phenotype_category":"Dosage","significance":"yes","notes":"58/220 patients had the target INR (1.5\u20132.5). The comparison of weekly warfarin maintenance dose was among patients of different genotypes. The AA genotype of rs9923231 required a significantly lower maintenance dose than the AG genotype (rs9923231: 19.21\u00b15.66 mg/w vs 28.62\u00b18.02 mg/w, p < 0.001; ANOVA). rs9923231 and rs1057910 had significant effects on maintenance dose (rs9923231: coefficient was 1.398, p < 0.001; rs1057910: coefficient was-0.994, p < 0.001) and together explained apx. 32.0% of warfarin maintenance dose variability.","sentence":"Genotype TT is associated with decreased dose of warfarin in people with as compared to genotype CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC6773496","article_title":"\u03b22-Adrenergic Receptor Gene Affects the Heart Rate Response of \u03b2-Blockers: Evidence From 3 Clinical Studies","article_path":"articles/PMC6773496.md","variant_annotation_id":1451107160,"variant_haplotypes":"rs1801252","gene":"ADRB1","drugs":"atenolol, metoprolol","pmid":31090079,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and response to atenolol or metoprolol, as measured by changes in heart rate, in black or white patients.","sentence":"Allele G is not associated with response to atenolol or metoprolol in people with Tachycardia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tachycardia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5645220","article_title":"Polymorphisms in CYP2C9 are associated with response to indomethacin among neonates with patent ductus arteriosus","article_path":"articles/PMC5645220.md","variant_annotation_id":1451140100,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"indomethacin","pmid":28609430,"phenotype_category":"Efficacy","significance":"no","notes":"among neonates with patent ductus arteriosus (PDA).","sentence":"Allele T is associated with increased response to indomethacin as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4544820","article_title":"Pharmacogenetic Study of Serotonin Transporter and 5HT2A Genotypes in Autism","article_path":"articles/PMC4544820.md","variant_annotation_id":1448105573,"variant_haplotypes":"rs7997012","gene":"HTR2A","drugs":"escitalopram","pmid":26262902,"phenotype_category":"Efficacy","significance":"no","notes":"Participants were enrolled in a 6 week, forced titration, open label examination. Doses started at 2.5 mg/day up to a possible dose of 20 mg/ day. The study compared AA to AG to GG genotypes and found no significant association.","sentence":"Allele A is not associated with increased response to escitalopram in people with Autistic Disorder as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Autism","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5589489","article_title":"NCCTG N0543 (Alliance): A Phase II Trial of Pharmacogenetic-Based Dosing of Irinotecan, Oxaliplatin, and Capecitabine as First-Line Therapy for Advanced Small Bowel Adenocarcinoma","article_path":"articles/PMC5589489.md","variant_annotation_id":1451214640,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan","pmid":28493308,"phenotype_category":"Dosage","significance":"not stated","notes":"Patients were genotyped and dosed according to genotype. Study then examined if this reduced severe toxicities.","sentence":"UGT1A1 *28 is associated with decreased dose of irinotecan in people with Adenocarcinoma and Gastrointestinal Neoplasms as compared to UGT1A1 *1.","alleles":"*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Adenocarcinoma, Other:Gastrointestinal Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC10526247","article_title":"Polymorphisms in the Drug Transporter Gene ABCB1 Are Associated with Drug Response in Saudi Epileptic Pediatric Patients","article_path":"articles/PMC10526247.md","variant_annotation_id":1452263360,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"antiepileptics","pmid":37760947,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented to plus chromosomal strand. \"good responders were classified as those who were totally free from seizures for at least 1 year during treatment with ASMs as a monotherapy or in combination at optimal tolerated therapeutic doses.\" \"good responders were significantly more likely to have the TT genotypes at rs1045642 and rs2032582 SNPs compared to poor responders.\" Specific antiseizure medications not mentioned.","sentence":"Genotype AA is associated with increased clinical benefit to antiepileptics in children with Epilepsy as compared to genotypes AC + CC.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4982759","article_title":"Genotype-Dependent Effects of Dalcetrapib on Cholesterol Efflux and Inflammation: Concordance With Clinical Outcomes","article_path":"articles/PMC4982759.md","variant_annotation_id":1448125943,"variant_haplotypes":"rs1967309","gene":"ADCY9","drugs":"dalcetrapib","pmid":27418594,"phenotype_category":"Efficacy","significance":"yes","notes":"Part of the dal-OUTCOMES and dal-PLAQUE-2 studies. Outcome was mean change in cholesterol efflux. Patients with the AG genotype had intermediate response.","sentence":"Genotype AA is associated with increased response to dalcetrapib in people with as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4456129","article_title":"Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity","article_path":"articles/PMC4456129.md","variant_annotation_id":1444695486,"variant_haplotypes":"rs12248560","gene":"CYP2C19","drugs":"methadone","pmid":25556837,"phenotype_category":"Dosage","significance":"no","notes":"Methadone maintenance dose was not associated with genotype of the SNP but it was correlated to the highest dose ever used. Multiple doses versus single dose, body weight, history of cocaine dependence and ethnicity (Asian>Caucasian>African) were independently associated with methadone dose in multiple regression analysis. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele T is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511056,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of GG, AG and AA did not influence donepezil clearance in a covariate model. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3991683","article_title":"IFNL4 ss469415590 Variant Shows Similar Performance to rs12979860 as Predictor of Response to Treatment against Hepatitis C Virus Genotype 1 or 4 in Caucasians","article_path":"articles/PMC3991683.md","variant_annotation_id":1184168705,"variant_haplotypes":"rs11322783","gene":"IFNL4","drugs":"peginterferon alfa-2a, ribavirin","pmid":24748394,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients were infected with HCV genotype 1 or 4. Sustained viral response (SVR) was defined as undetectable plasma HCV RNA 24 weeks after the completion of treatment. The two SNPs rs12979860 (IL28B) and rs368234815 (IFNL4) are in strong LD (r squared of 0.82). The -G allele of rs368234815 causes a frame shift in the DNA sequence (TT-> -G) which has been shown, in vitro, to induce expression of IFNL4, possibly affecting HCV clearance.; The SNPs were also tested by HCV genotype (1 or 4) and were both equally predictive.; The AUROC model that included rs368234815 was 0.756 (95% CI: 0.687-0.826)","sentence":"Genotype TT/TT is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C as compared to genotypes G/TT + GG.","alleles":"TT/TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G/TT + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166076,"variant_haplotypes":"rs2799018","gene":"ARHGAP12","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele T is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5346034","article_title":"Effect of UGT2B10, UGT2B17, FMO3, and OCT2 Genetic Variation on Nicotine and Cotinine Pharmacokinetics and Smoking in African Americans","article_path":"articles/PMC5346034.md","variant_annotation_id":1448602065,"variant_haplotypes":"rs2942857","gene":"UGT2B10","drugs":"nicotine","pmid":28178031,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This annotation was on rs116294140, but dbSNP has merged these two rs IDs.","sentence":"Genotype CC is not associated with increased clearance of nicotine in people with Tobacco Use Disorder as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":982046672,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Daily dose of phenprocoumon is not significantly associated with this SNP. Daily dose is negatively correlated with age. This study published an algorithm for daily dose that includes height, although height was not significant in univariate analysis. This SNP is also not significantly associated with phenprocoumon concentration.","sentence":"Genotype CC is not associated with increased dose of phenprocoumon as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811875,"variant_haplotypes":"rs548646","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"yes","notes":"The T allele was associated with increased scores in the buzzed, clumsy and dizzy traits as well as increased total score on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele T is associated with increased response to ethanol as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC1746721","article_title":"Effects of captopril administration on pulmonary haemodynamics and tissue oxygenation during exercise in ACE gene subtypes in patients with COPD: a preliminary study","article_path":"articles/PMC1746721.md","variant_annotation_id":982042579,"variant_haplotypes":"rs1799752","gene":"ACE","drugs":"captopril","pmid":12832683,"phenotype_category":"Efficacy","significance":"yes","notes":"The del/del genotype is associated with a increased mean pulmonary arterial pressure (mPAP; units = mmHg) and increased pulmonary vascular resistance (PVR; units = mmHg/l/min/m2) after exercise, as compared to the remaining genotypes. This indicates a decreased response to captopril.","sentence":"Genotype del/del is associated with decreased response to captopril in men with Pulmonary Disease, Chronic Obstructive as compared to genotypes ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC + ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del.","alleles":"del/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Chronic Obstructive Pulmonary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC + ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del","comparison_metabolizer_types":null} +{"pmcid":"PMC4304713","article_title":"Prediction Formulas for Individual Opioid Analgesic Requirements Based on Genetic Polymorphism Analyses","article_path":"articles/PMC4304713.md","variant_annotation_id":1444694036,"variant_haplotypes":"rs3845446","gene":"CACNA1E","drugs":"fentanyl","pmid":25615449,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"A formula was developed to predict individual opioid use during the first 24-h post-operative period for patients who underwent craniofacial surgery. The post-operative period R squared values were higher when genotype information was included. In the first group fentanyl was administered by IV, on demand, with a bolus dose of 20 micrograms and a 10 minute lockout period 24-h post-op.","sentence":"Genotype TT is not associated with dose of fentanyl in people with Pain, Postoperative as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Side Effect:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5249113","article_title":"Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis","article_path":"articles/PMC5249113.md","variant_annotation_id":1448995921,"variant_haplotypes":"rs7574865","gene":"STAT4","drugs":"adalimumab","pmid":28107378,"phenotype_category":"Efficacy","significance":"no","notes":"No significant associations were seen at either six months or two years after the beginning of treatment when response was measured as number of patients in remission or with low disease activity or by EULAR score.","sentence":"Allele T is not associated with response to adalimumab in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11730665","article_title":"Comparative efficacy and safety of sitagliptin or gliclazide combined with metformin in treatment-naive patients with type 2 diabetes: A single-center, prospective, randomized, controlled, noninferiority study with genetic polymorphism analysis","article_path":"articles/PMC11730665.md","variant_annotation_id":1453075941,"variant_haplotypes":"rs4664443","gene":"DPP4","drugs":"sitagliptin","pmid":39792745,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Similarly, for the rs4664443 GG genotype, the median HbA1c improvement in the study group was 0.69 (IQR, 0.48\u20130.91) compared with 1.25 (IQR, 1.00\u20131.46) in the control group (P\u2005<\u2005.001), indicating lower efficacy of sitagliptin.\"","sentence":"Genotype GG is associated with decreased response to sitagliptin in people with Diabetes Mellitus, Type 2.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5354739","article_title":"Pharmacogenetic analysis of high-dose methotrexate treatment in children with osteosarcoma","article_path":"articles/PMC5354739.md","variant_annotation_id":1449188641,"variant_haplotypes":"rs3814055","gene":"NR1I2","drugs":"methotrexate","pmid":27566582,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The T allele is associated with longer half-life of methotrexate.","sentence":"Allele T is associated with decreased metabolism of methotrexate in children with Osteosarcoma as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC8973308","article_title":"Susceptibility to thiopurine toxicity by TPMT and NUDT15 variants in Colombian children with acute lymphoblastic leukemia","article_path":"articles/PMC8973308.md","variant_annotation_id":1451768380,"variant_haplotypes":"rs116855232","gene":"NUDT15","drugs":"mercaptopurine","pmid":35431360,"phenotype_category":"Dosage","significance":"no","notes":"Authors stated \"Although no statistically significant associations were identified, two of the four patients; heterozygous for NUDT15 required a decrease in 6-MP during the follow-up period. \" No TT homozygotes were observed. \"Studies with a larger population size are needed\"","sentence":"Genotype CT is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6049926","article_title":"No association between IFNL3 (IL28B) genotype and response to peginterferon alfa-2a in HBeAg-positive or -negative chronic hepatitis B","article_path":"articles/PMC6049926.md","variant_annotation_id":1449713162,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a","pmid":30016335,"phenotype_category":"Efficacy","significance":"no","notes":"The authors found no association between IFNL3 genotype and peginterferon 2a response in either HBeAg-positive or HBeAg-negative chronic hepatitis B patients, in both Asian and White patients.","sentence":"Genotype CC is not associated with response to peginterferon alfa-2a in people with Hepatitis B, Chronic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis B, Chronic","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678447,"variant_haplotypes":"rs2234922","gene":"EPHX1","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Efficacy","significance":"no","notes":"The authors evaluated the distribution of genotypes between individuals who developed resistance to carbamazepine (CBZ) and those who did not. There were no significant differences in genotype distributions between the two groups.","sentence":"Genotype AA is not associated with resistance to carbamazepine in people with Epilepsy as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003399,"variant_haplotypes":"rs2231137","gene":"ABCG2","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There is no association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: CC +TC (0.45 (0.09\u201341.63)) vs. TT(0.46 (0.15\u201310.29)). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotypes CC + CT are not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC10377184","article_title":"DRD2, DRD3, and HTR2A Single-Nucleotide Polymorphisms Involvement in High Treatment Resistance to Atypical Antipsychotic Drugs","article_path":"articles/PMC10377184.md","variant_annotation_id":1452200441,"variant_haplotypes":"rs6311","gene":"HTR2A","drugs":"antipsychotics","pmid":37509727,"phenotype_category":"Efficacy","significance":"no","notes":"\" The HTR2A rs6311 C|T vs. C|C genotype inversely predicted the; HTR group membership with a significant trend (OR = 0.333; B = \u22121.1; p = 0.059).\"","sentence":"Genotype CT is associated with decreased resistance to antipsychotics in people with Mood Disorders or Schizophrenia as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Mood Disorder, Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4833150","article_title":"Genetic markers in CYP2C19 and CYP2B6 for prediction of cyclophosphamide's 4\u2010hydroxylation, efficacy and side effects in Chinese patients with systemic lupus erythematosus","article_path":"articles/PMC4833150.md","variant_annotation_id":1446907901,"variant_haplotypes":"rs1695","gene":"GSTP1","drugs":"cyclophosphamide","pmid":26456622,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with metabolism of cyclophosphamide in people with as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6813860","article_title":"Effect of N-Acetyltransferase 2 (NAT2) Genotype on the Pharmacokinetics of Hydralazine during Pregnancy","article_path":"articles/PMC6813860.md","variant_annotation_id":1451135223,"variant_haplotypes":"NAT2*4, NAT2*6, NAT2*7, NAT2*16","gene":"NAT2","drugs":"hydralazine","pmid":31257615,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Originally annotated as NAT2 *4/*5D + *4/*6B + *4/*7A (assigned as rapid acetylator phenotype) compared to NAT2 *5D/*5D + *5D/*6B + *5D/*7A + *6B/*6B (assigned as slow acetylator phenotype). RA group had faster weight-adjusted hydralazine apparent oral clearance (70.0 \u00b1 13.6 vs 20.1 \u00b1 6.9 L/h, P < .05), lower dose-normalized area under the concentration-time curve (AUC; 1.5 \u00b1 0.8 vs 5.9 \u00b1 3.7 ng\u00b7h/mL, P < .05), lower dose-normalized peak concentrations (0.77 \u00b1 0.51 vs 4.04 \u00b1 3.18 ng/mL, P < .05), and larger weight-adjusted apparent oral volume of distribution (302 \u00b1 112 vs 116 \u00b1 45 L/kg, P < .05) compared to slow acetylators.; Single-nucleotide polymorphisms (SNPs) in the NAT2 coding region and their corresponding haplotypes were determined using 4-SNP assays, that is, rs181280,c.341T > C; rs1799930, c.590G > A; rs1799931,c.857G > A; rs1801279, c.191G > A, with TaqMan Assays. Subjects were classified as slow acetylators if they had 2 reduced-activity NAT2 alleles (*5, *6, *7, or*14), or rapid acetylators if they carried 1 reduced-activity allele and 1 fully functional allele (*4) or 2 fully functional alleles.; The arylamine N-acetyltransferases (NATs) database was transitioned into the PharmVar database in March 2024. The alleles in this annotation are mapped as following: NAT2*5D under the *16 core allele; NAT2*6B under the *6 core allele; NAT2*7A under the *7 core allele.","sentence":"NAT2 *4/*16 + *4/*6 + *4/*7 (assigned as rapid acetylator phenotype) are associated with increased metabolism of hydralazine in women with Hypertension and Pregnancy as compared to NAT2 *16/*16 + *16/*6 + *16/*7 + *6/*6 (assigned as slow acetylator phenotype) .","alleles":"*4/*16 + *4/*6 + *4/*7","specialty_population":null,"metabolizer_types":"rapid acetylator","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Hypertension, Other:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"*16/*16 + *16/*6 + *16/*7 + *6/*6","comparison_metabolizer_types":"slow acetylator"} +{"pmcid":"PMC5520553","article_title":"Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma","article_path":"articles/PMC5520553.md","variant_annotation_id":1448820454,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":28685716,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"When considering DONOR genotype - those with the CT or TT genotype had decreased concentration/dose ratios as compared to those with the CC genotype at weeks 1-4 of treatment. In multiple linear regression analysis, donor rs776746 genotype was significantly associated with concentration/dose ratio at week 1 (p<0.001), 3 (p=0.031) and 4 (p=0.027) of treatment. Patients with hepatocellular carcinoma. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are associated with decreased dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862176,"variant_haplotypes":"rs5746849","gene":"COMT","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs2075507,rs7287550, rs737866, rs740603, rs6269, rs2239393, rs4818, rs4680, rs174699, rs165728). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here.","sentence":"Allele A is associated with decreased dose of morphine in people with Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5600689","article_title":"Impact of Single Nucleotide Polymorphisms on Plasma Concentrations of Efavirenz and Lopinavir/ritonavir in Chinese Children Infected with the Human Immunodeficiency Virus","article_path":"articles/PMC5600689.md","variant_annotation_id":1448821818,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"ritonavir","pmid":28718515,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes GT + TT are not associated with concentrations of ritonavir in children with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5346878","article_title":"Tacrolimus dose requirements in paediatric renal allograft recipients are characterized by a biphasic course determined by age and bone maturation","article_path":"articles/PMC5346878.md","variant_annotation_id":1449171411,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"tacrolimus","pmid":27966227,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Dose-corrected tacrolimus exposure (AUC0-12/doseBW). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype AA is not associated with concentrations of tacrolimus in children with Kidney Transplantation as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407765,"variant_haplotypes":"rs4818","gene":"COMT","drugs":"butorphanol","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Study-wide significance was set to p<0.017.","sentence":"Allele G is not associated with response to butorphanol in healthy individuals as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5808057","article_title":"No major role of norepinephrine transporter gene variations in the cardiostimulant effects of MDMA","article_path":"articles/PMC5808057.md","variant_annotation_id":1449160237,"variant_haplotypes":"rs36029","gene":"SLC6A2","drugs":"3,4-methylenedioxymethamphetamine","pmid":29198060,"phenotype_category":"Other","significance":"yes","notes":"The AA genotype was associated with increased mean arterial pressure, but not plasma concentrations , or heart rate.","sentence":"Genotype AA is associated with increased response to 3,4-methylenedioxymethamphetamine as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981794102,"variant_haplotypes":"rs8187758","gene":"SLC28A1","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Tumor response to therapy, progression free survival, and risk of neutropenia development did not significantly differ between genotype groups.","sentence":"Genotype CC is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC3414671","article_title":"Naltrexone Modification of Drinking Effects in a Sub-Acute Treatment and Bar-Lab Paradigm: Influence of OPRM1 and Dopamine Transporter (SCL6A3) Genes","article_path":"articles/PMC3414671.md","variant_annotation_id":1449161170,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":22551036,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Authors caution that the lack of observed association between rs1799971 and alcohol consumption may be due to differences in the study cohort, bias or a type II error.","sentence":"Allele A is not associated with response to ethanol in people with Alcoholism as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2660379","article_title":"SLC6A4 Variation and Citalopram Response","article_path":"articles/PMC2660379.md","variant_annotation_id":981477870,"variant_haplotypes":"rs25531","gene":"SLC6A4","drugs":"citalopram","pmid":18618621,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to citalopram in people with Depression as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729373,"variant_haplotypes":"rs4149032","gene":"SLCO1B1","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes CT + TT is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC8533258","article_title":"Exploring the Role of Alcohol Metabolizing Genotypes in a 12-Week Clinical Trial of Naltrexone for Alcohol Use Disorder","article_path":"articles/PMC8533258.md","variant_annotation_id":1451648927,"variant_haplotypes":"rs698","gene":"ADH1C","drugs":"naltrexone","pmid":34680127,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. The C allele is also referred to as the ADH1C*1 allele in the paper. Patients carrying the C allele reported fewer drinking days during naltrexone treatment.","sentence":"Allele C is associated with increased response to naltrexone in men with Alcoholism as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104881,"variant_haplotypes":"rs2201169","gene":"GABRA3","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC7883889","article_title":"A Delta-Opioid Receptor Gene Polymorphism Moderates the Therapeutic Response to Extended-Release Buprenorphine in Opioid Use Disorder","article_path":"articles/PMC7883889.md","variant_annotation_id":1451676184,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"buprenorphine","pmid":32920647,"phenotype_category":"Efficacy","significance":"no","notes":"This was found in African Americans only. The opposite association was found in European Americans.","sentence":"Genotype CC is associated with increased response to buprenorphine in people with Opioid-Related Disorders as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6920759","article_title":"Evaluation of the Effect of CYP2D6 Genotypes on Tramadol and O-Desmethyltramadol Pharmacokinetic Profiles in a Korean Population Using Physiologically-Based Pharmacokinetic Modeling","article_path":"articles/PMC6920759.md","variant_annotation_id":1451134163,"variant_haplotypes":"CYP2D6 poor metabolizers and intermediate metabolizers","gene":"CYP2D6","drugs":"tramadol","pmid":31744222,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Note that no statistical analysis was carried out on data from the clinical study. All IMs had the *10/*10 genotype, while all PMs had the *5/*5 genotype. The genotypes of all NMs are not given and the study did not look for CNVs to identify UMs.","sentence":"CYP2D6 intermediate metabolizer and poor metabolizer are associated with increased concentrations of tramadol in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4764353","article_title":"Lumacaftor\u2013Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR","article_path":"articles/PMC4764353.md","variant_annotation_id":1449192588,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor, lumacaftor","pmid":25981758,"phenotype_category":"Efficacy","significance":"yes","notes":"Changes in FEV1, BMI, CFQ-R score and number of pulmonary exacerbation events were measured to determine response.","sentence":"Genotype del/del is associated with response to ivacaftor and lumacaftor in people with Cystic Fibrosis.","alleles":"del/del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3016221","article_title":"Genetic variants in the KIF6 region and coronary event reduction from statin therapy","article_path":"articles/PMC3016221.md","variant_annotation_id":981482201,"variant_haplotypes":"rs9471077","gene":"KIF6","drugs":"atorvastatin, pravastatin","pmid":20886236,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype AA is not associated with increased response to atorvastatin or pravastatin.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121701,"variant_haplotypes":"rs10753331","gene":"OPRD1","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test, subjective effects of oxycodone.","sentence":"Allele A is not associated with response to oxycodone as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4735961","article_title":"Case report: Severe central nervous system manifestations associated with aberrant efavirenz metabolism in children: the role of CYP2B6 genetic variation","article_path":"articles/PMC4735961.md","variant_annotation_id":1448997108,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":26831894,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes GT + TT are associated with increased concentrations of efavirenz in children with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3984266","article_title":"Germline Variation in Colorectal Risk Loci Does Not Influence Treatment Effect or Survival in Metastatic Colorectal Cancer","article_path":"articles/PMC3984266.md","variant_annotation_id":1446895521,"variant_haplotypes":"rs10795668","gene":null,"drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":24727911,"phenotype_category":"Efficacy","significance":"no","notes":"SNPs were investigated for their effects on response rate, time to progression and overall survival. After accounting for multiple testing there was no association with any SNPs and outcomes of patients with metastatic colorectal cancer.","sentence":"Allele A is not associated with response to fluorouracil, irinotecan and oxaliplatin in people with Colorectal Neoplasms and Neoplasm Metastasis as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms, Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6081148","article_title":"Role of TNFRSF1A and TNFRSF1B polymorphisms in susceptibility, severity, and therapeutic efficacy of etanercept in human leukocyte antigen-B27-positive Chinese Han patients with ankylosing spondylitis","article_path":"articles/PMC6081148.md","variant_annotation_id":1449713713,"variant_haplotypes":"rs767455","gene":"TNFRSF1A","drugs":"etanercept","pmid":30075559,"phenotype_category":"Efficacy","significance":"no","notes":"Response to etanercept was determined using the Assessment in Ankylosing Spondylitis 20 (ASAS20) and Assessment in Ankylosing Spondylitis 40 (ASAS40). No significant difference in response was seen between genotypes at either 3 months or 12 months after initiation of etanercept treatment.","sentence":"Genotype CT is not associated with response to etanercept in people with Spondylitis, Ankylosing as compared to genotypes CC + TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Spondylitis, Ankylosing","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6891932","article_title":"Effects of SLCO1B1 polymorphisms on plasma estrogen concentrations in women with breast cancer receiving aromatase inhibitors exemestane and letrozole","article_path":"articles/PMC6891932.md","variant_annotation_id":1450934891,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*5","gene":"SLCO1B1","drugs":"estrone","pmid":31190621,"phenotype_category":"Efficacy","significance":"yes","notes":"when treated with aromatase inhibitors.","sentence":"SLCO1B1 *5/*5 is associated with increased concentrations of estrone in women with Breast Neoplasms as compared to SLCO1B1 *1/*1 + *1/*5.","alleles":"*5/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*5","comparison_metabolizer_types":null} +{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161488,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methadone","pmid":21589866,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in genotype or phenotype frequencies between responders and non-responders, as defined by drug misuse during methadone maintenance therapy. No details about which specific variants/alleles were tested for. Variant referred to as C3435T. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6939828","article_title":"Identification of Cytochrome P450 Polymorphisms in Burn Patients and Impact on Fentanyl Pharmacokinetics: A Pilot Study","article_path":"articles/PMC6939828.md","variant_annotation_id":1451440560,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"fentanyl","pmid":30371861,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Single patient identified with the CYP3A4*1B allele. Clearance of fentanyl in this patient was significantly lower than in patients without the *1B allele. Mapped *1B to rs2740574 C and *1A to rs2740574 T based on PharmVAR consolidation of core alleles.","sentence":"Allele C is associated with decreased clearance of fentanyl in people with Burns as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Burns","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4526634","article_title":"Association of ABCB1 and FLT3 Polymorphisms with Toxicities and Survival in Asian Patients Receiving Sunitinib for Renal Cell Carcinoma","article_path":"articles/PMC4526634.md","variant_annotation_id":1446748136,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"sunitinib","pmid":26244574,"phenotype_category":"Efficacy","significance":"yes","notes":"The genotype was not associated with progression free survival, or overall survival. Clinical benefit is defined as either partial response or stable disease and lack of clinical benefit as progressive disease. This was more significant when calculated for the haplotype rs1045642 T, rs1128503 T, and rs2032582 T. Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AA is associated with decreased response to sunitinib in people with Carcinoma, Renal Cell.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2709885","article_title":"Genetic variation of CYP2C19 affects both pharmacokinetic and pharmacodynamic responses to clopidogrel but not prasugrel in aspirin-treated patients with coronary artery disease","article_path":"articles/PMC2709885.md","variant_annotation_id":1184469934,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*8, CYP2C19*17","gene":"CYP2C19","drugs":"clopidogrel","pmid":19429918,"phenotype_category":"Efficacy, Metabolism/PK","significance":"yes","notes":"VASP platelet reactivity index and VerifyNow(TM) P2Y12 reaction unit values were significantly higher in PM than in EM. Patients were also treated with aspirin. There were 37 EM (by genotype) and 9 PM (by genotype). Dosage was 600 mg loading/75 mg maintenance.","sentence":"CYP2C19 *1/*2 + *1/*8 + *2/*2 (assigned as poor metabolizer phenotype) is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to CYP2C19 *1/*1 + *1/*17 + *17/*17 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*8 + *2/*2","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17 + *17/*17","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4522133","article_title":"Limited predictive value of achieving beneficial plasma (Z)-endoxifen threshold level by CYP2D6 genotyping in tamoxifen-treated Polish women with breast cancer","article_path":"articles/PMC4522133.md","variant_annotation_id":1448260990,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6","gene":"CYP2D6","drugs":"endoxifen","pmid":26232141,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Pre- and post menopausal patients received 20 mg/day tamoxifen for at least 1 month (median duration 21.5 month). DNA source was blood and CYP2D6 was genotyped with TaqMan allelic discrimination assays. PM (non-functional) alleles include: CYP2D6*3, *4, *5, *6, *7; IM (reduced function) alleles include: CYP2D6*9, *10, *17, *41; EM (wt; fully functional) alleles include CYP2D6*1 and *2; UM (increased function) alleles include: duplication of EM variants of the gene, such as CYP2D6*1XN and *2XN. Patients were assigned a CYP2D6 genotype depending on the combination of alleles they carry, as PM/PM, IM/PM, IM/IM, EM/PM, EM/IM, EM/EM or EM/UM.","sentence":"CYP2D6 *1/*4 + *2/*4 + *1/*5 + *1/*3 + *2/*5 + *1/*6 + *2/*3 + *2/*6 are associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*2 + *1/*1 + *2/*2.","alleles":"*1/*4 + *2/*4 + *1/*5 + *1/*3 + *2/*5 + *1/*6 + *2/*3 + *2/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*1 + *2/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC2291379","article_title":"Influence of the CYP2D6*4 polymorphism on dose, switching and discontinuation of antidepressants","article_path":"articles/PMC2291379.md","variant_annotation_id":1183617426,"variant_haplotypes":"CYP2D6*1, CYP2D6*4","gene":"CYP2D6","drugs":"amitriptyline, clomipramine, doxepin, imipramine, maprotiline, nortriptyline, opipramol","pmid":18070221,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"(*4*4 vs. *1*1; this SNP was the only SNP assayed and this method could not detect *5.) Tricyclic antidepressants were grouped together for this analysis (45.9 % of patients were taking Amitriptyline; 8.2% Maprotiline;6.6% Clomipramine; 2.9% Nortriptyline;2.4% Imipramine;0.7% Dosulepin;0.3% Doxepin;0.2% Opipramol. Mean TCA dose was significantly lower at the 3rd and 4th prescription (difference 0.11 DDD). Genotypes were not in Hardy-Weinberg equilibrium; frequency below is for a larger population that included patients treated with other antidepressants.","sentence":"CYP2D6 *4/*4 is associated with decreased dose of amitriptyline, clomipramine, doxepin, imipramine, maprotiline, nortriptyline or Opipramol in people with Depression as compared to CYP2D6 *1/*1.","alleles":"*4/*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184756122,"variant_haplotypes":"rs4917639","gene":"CYP2C9","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"yes","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\" rs4917639 only remained significantly associated with warfarin maintenance dose in the first cohort but did not remain significant in the multivariate analysis.","sentence":"Allele C is associated with decreased dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5520553","article_title":"Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma","article_path":"articles/PMC5520553.md","variant_annotation_id":1448820578,"variant_haplotypes":"rs7443562","gene":"C6","drugs":"tacrolimus","pmid":28685716,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference was seen when considering DONOR genotype at week 2 of treatment. Patients with hepatocellular carcinoma.","sentence":"Genotype AA is not associated with dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4706412","article_title":"A Novel Admixture-Based Pharmacogenetic Approach to Refine Warfarin Dosing in Caribbean Hispanics","article_path":"articles/PMC4706412.md","variant_annotation_id":1447682605,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*8","gene":"CYP2C9","drugs":"warfarin","pmid":26745506,"phenotype_category":"Dosage","significance":"yes","notes":"The authors aimed to develop an admixture-adjusted (genetic ancestry) PGx dosing algorithm for warfarin in Caribbean Hispanics from Puerto Rico. [Algorithm R sq.=0.70, MAE = 0.72 mg/day]. When externally validated with 55 individuals from an independent cohort the novel algorithm predicted 58% of the warfarin dose variance [MAE = 0.89 mg/day, 24% mean bias]. Please note: the derivation cohort was 99% male and \"variables were included in final lin. reg model if p<0.05 or if association with daily warfarin dose was marginally significant 0.05 = p = 0.20 with strong biological plausibility\".","sentence":"CYP2C9 *2 + *3 + *8 are associated with decreased dose of warfarin as compared to CYP2C9 *1.","alleles":"*2 + *3 + *8","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449002901,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"yes","notes":"Evidence of minimal residual disease at 78 days was higher in CC genotype vs. CT + TT.","sentence":"Genotype CC is associated with decreased response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC9891445","article_title":"Effects of genetic polymorphisms on methotrexate levels and toxicity in Chinese patients with acute lymphoblastic leukemia","article_path":"articles/PMC9891445.md","variant_annotation_id":1452008100,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"methotrexate","pmid":36742186,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"increased concentrations at 48 and 72 hours which was also reported as \"MTX elimination delay\". \"MTX elimination delay was defined as MTX concentration of >1.0 \u03bcmol/L at 48 hours and >0.3 \u03bcmol/L at 72 hours.\" Authors report: \"Moreover, MTX elimination delay was less in patients with SLC19A1 rs4149056 TC or CC genotype (OR 0.319, 95% CI: 0.138\u20130.736, P = 0.007).\" this gives the wrong gene for this variant identifier.","sentence":"Genotype TT is associated with increased exposure to methotrexate in people with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163317,"variant_haplotypes":"rs4253730","gene":"PPARA","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. This is a proxy for rs4823613 and rs4253728.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930632,"variant_haplotypes":"rs621849","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"The G allele was initially associated with an increased likelihood of being a smoker but this lost significance following correction for multiple testing.","sentence":"Allele G is not associated with exposure to nicotine in men as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104640,"variant_haplotypes":"rs3781719","gene":"CALCA","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"yes","notes":"The G allele was found at a significantly higher frequency in non-responders than in responders. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is associated with decreased response to botulinum toxin type a in women with Migraine NOS as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678435,"variant_haplotypes":"rs1051740","gene":"EPHX1","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Efficacy","significance":"no","notes":"The authors evaluated the distribution of genotypes between individuals who developed resistance to carbamazepine (CBZ) and those who did not. There were no significant differences in genotype distributions between the two groups.","sentence":"Genotype TT is not associated with resistance to carbamazepine in people with Epilepsy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC2885152","article_title":"COMT Val108/158Met polymorphism modulates task-oriented behaviour in children with ADHD","article_path":"articles/PMC2885152.md","variant_annotation_id":1450376738,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"methylphenidate","pmid":18580877,"phenotype_category":"Efficacy","significance":"no","notes":"No significant genotype by treatment interaction was observed (p=0.4), suggesting that COMT genotype does not modulate therapeutic response, at least at the dose of MPH tested (0.5\u00bfmg/kg). Restricted Academic Situation Scale (RASS) was used.","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678220,"variant_haplotypes":"rs3812718","gene":"SCN1A","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors evaluated maintenance dose-adjusted concentrations of carbamazepine (CBZ), its active metabolite, CBZ-epoxide (CBZE), and its inactive metabolite CBZ-diol (CBZD) as well as CBZE:CBZ, CBZD:CBZ and CBZD:CBZE ratios. The TT genotype is associated with a lower mean dose adj. concentration of CBZ (microgram/mL per mg/Kg) (0.71 for the TT genotype vs. 0.92-1.11 for the CT and CC genotypes, respectively) as well as a higher mean CBZD:CBZ (0.43 for TT vs. 0.23-0.27 for the CT and CC genotypes, respectively). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype TT is associated with increased metabolism of carbamazepine in people with Epilepsy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451105010,"variant_haplotypes":"rs7217270","gene":"TRPV3","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele A is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC1029622","article_title":"Congenital thiopurine methyltransferase deficiency and 6-mercaptopurine toxicity during treatment for acute lymphoblastic leukaemia","article_path":"articles/PMC1029622.md","variant_annotation_id":1452649400,"variant_haplotypes":"TPMT deficiency","gene":"TPMT","drugs":"deoxy-thioguanosine triphosphate, thioguanosine triphosphate","pmid":8257179,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"These two children had higher levels of intracellular 6-thioguanine nucleotides, while taking 25% of the standard protocol dose, than did the other patients who were taking 100% of the protocol dose.","sentence":"TPMT deficiency is associated with increased concentrations of deoxy-thioguanosine triphosphate and thioguanosine triphosphate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4631185","article_title":"Effect of carboxylesterase 1 c.428G\u2009>\u2009A single nucleotide variation on the pharmacokinetics of quinapril and enalapril","article_path":"articles/PMC4631185.md","variant_annotation_id":1446899465,"variant_haplotypes":"rs71647871","gene":"CES1","drugs":"quinapril","pmid":25919042,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was a fixed-order crossover study with two phases: following overnight fasting participants took a 10 mg dose of quinapril and, after a washout period of at least 1 week, a 10 mg dose of enalapril with 150 ml water in the morning and EDTA-prepared blood samples were drawn before and up to 24 hr, and up to 48 h after ingestion for the determination of the concentrations of quinapril and its metabolite quinaprilat, as well as enalapril and its metabolite enalaprilat. Urine was collected up to 12 h after quinapril and enalapril. Only AUC (0-infinity) and amount excreted in urine of enalaprilat were significantly different between genotype groups. Other PK parameters that were tested and not significantly different were Cmax, Tmax, T(1/2), and renal clearance.","sentence":"Genotype CT is not associated with clearance of quinapril in healthy individuals as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC10668502","article_title":"Impact of IL6R genetic variants on treatment efficacy and toxicity response to sarilumab in rheumatoid arthritis","article_path":"articles/PMC10668502.md","variant_annotation_id":1452308828,"variant_haplotypes":"rs11265618","gene":"IL6R","drugs":"sarilumab","pmid":38001504,"phenotype_category":"Efficacy","significance":"yes","notes":"\"For rs4329505 and rs11265618, the genetic model that best fit the data was the dominant model, as patients homozygous for the wild-type allele (TT for rs4329505 and CC for rs11265618) showed better remission rates than the other patients; specifically, remission rates (CDAI-LDA) were 73.5% vs. 44.4% (p\u2009=\u20090.039) and the quantitative improvement in DAS28 was 2.9 vs. 2.0 (p\u2009=\u20090.048). No significant differences were found for DAS28 LDA, CDAI improvement, and/or EULAR response rates.\" \"A linked inheritance was observed between rs4329505 and rs11265618, as all individuals carrying the T allele for rs4329505 also had the C allele for rs11265618, and vice versa. \"","sentence":"Genotype CC is associated with increased response to sarilumab in people with Arthritis, Rheumatoid as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5734971","article_title":"Genetic Analysis of Mu and Kappa Opioid Receptor and COMT Enzyme in Cancer Pain Tunisian Patients Under Opioid Treatment","article_path":"articles/PMC5734971.md","variant_annotation_id":1449182316,"variant_haplotypes":"rs17174629","gene":"OPRM1","drugs":"morphine","pmid":29259946,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"No association was observed between this variant and a patient's initial dose requirement or their need to escalate their dose of morphine.","sentence":"Allele G is not associated with dose of morphine in people with Pain as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166371,"variant_haplotypes":"rs2013169","gene":"PURA","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele T is associated with decreased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4390701","article_title":"Meta-Analysis of the SLCO1B1 c.521T>C Variant Reveals Slight Influence on the Lipid-Lowering Efficacy of Statins","article_path":"articles/PMC4390701.md","variant_annotation_id":1451354760,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"hmg coa reductase inhibitors","pmid":25932441,"phenotype_category":"Efficacy","significance":"no","notes":"Meta analysis did not significant association between the lipid-lowering efficacy of statins and the SLCO1B1 c.521T>C polymorphism. However, the wild genotype improved the lipid-lowering efficacy of simvastatin.","sentence":"Genotypes CC + CT are not associated with decreased response to hmg coa reductase inhibitors as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6423619","article_title":"Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19","article_path":"articles/PMC6423619.md","variant_annotation_id":1450935745,"variant_haplotypes":"rs1187513719","gene":"CYP2C19","drugs":"mephenytoin","pmid":30745309,"phenotype_category":"Metabolism/PK","significance":"no","notes":"In vitro analysis showed that intrinsic clearance of S-mephenytoin by CYP2C19 protein containing the A allele was 57.9% of that of the WT protein. However, this difference was not found to be statistically significant. Variant referred to as 578A>G in the paper.","sentence":"Allele G is associated with decreased clearance of mephenytoin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4909584","article_title":"Genotype-guided tacrolimus dosing in African American kidney transplant recipients","article_path":"articles/PMC4909584.md","variant_annotation_id":1448267244,"variant_haplotypes":"CYP3A5*3, CYP3A5*6, CYP3A5*7","gene":"CYP3A5","drugs":"tacrolimus","pmid":26667830,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"This study generated an algorithm for predicting tacrolimus daily dose based on tacrolimus typical value of clearance (TVCl/F) that included CYP3A5 alleles *3, *6 and *7. It also found that in subjects with the *1/*3, *1/*6 and *1/*7 genotypes had TVCl/F decreased by 16.2%, 8.2% and 24.1% respectively, and subjects with the *3/*3, *3/*6, *3/*7 or *6/*7 had it decreased by 51%, 36.5%, 54.5% and 44.2% respectively, as compared to the *1/*1 genotype.","sentence":"CYP3A5 *3 + *6 + *7 are associated with decreased clearance of tacrolimus in people with Kidney Transplantation.","alleles":"*3 + *6 + *7","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3248257","article_title":"The population pharmacokinetics of R- and S-warfarin: effect of genetic and clinical factors","article_path":"articles/PMC3248257.md","variant_annotation_id":827863717,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"warfarin","pmid":21692828,"phenotype_category":"Other, Metabolism/PK","significance":"not stated","notes":"For R-Warfarin in a model that included bodyweight, age and CYP2C19 rs3814637.","sentence":"Genotype CT is associated with increased clearance of warfarin as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3797132","article_title":"SLCO1B1 and SLC19A1 Gene Variants and Irinotecan-Induced Rapid Response and Survival: A Prospective Multicenter Pharmacogenetics Study of Metastatic Colorectal Cancer","article_path":"articles/PMC3797132.md","variant_annotation_id":1183697523,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"capecitabine, fluorouracil, irinotecan, leucovorin","pmid":24143213,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP was presented as an A>G nucleotide change. Patients were split into two groups based on treatment. One group received irinotecan, fluorouracil, and leucovorin, and the other group received irinotecan and capecitabine. Patients with the GG genotype showed significantly greater rapid response rate as compared to patients carrying the A allele. In addition, when combined with rs2306283, patients homozygous for the G allele for this SNP and carrying the A allele at rs2306283 had significantly higher rapid response rates than patients with any other combination of genotypes.","sentence":"Genotype CC is associated with increased response to capecitabine, fluorouracil, irinotecan or leucovorin in people with Colorectal Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767330,"variant_haplotypes":"rs1995152","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele C is not associated with trough concentration of vancomycin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3698861","article_title":"Association of nicotine metabolite ratio and CYP2A6 genotype with smoking cessation treatment in African-American light smokers","article_path":"articles/PMC3698861.md","variant_annotation_id":1451665780,"variant_haplotypes":"CYP2A6*1, CYP2A6*2, CYP2A6*4, CYP2A6*9, CYP2A6*12, CYP2A6*17, CYP2A6*20, CYP2A6*23, CYP2A6*24, CYP2A6*25, CYP2A6*26, CYP2A6*27, CYP2A6*28, CYP2A6*35","gene":"CYP2A6","drugs":"nicotine","pmid":19279561,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2A6 *1/*2 + *1/*4 + *1/*17 + *1/*20 + *1/*23 + *1/*24 + *1/*25 + *1/*26 + *1/*27 + *1/*28 + *1/*35 + *9/*9 + *17/*17 + *20/*20 + *35/*35 are associated with decreased metabolism of nicotine as compared to CYP2A6 *1/*9 + *1/*12.","alleles":"*1/*2 + *1/*4 + *1/*17 + *1/*20 + *1/*23 + *1/*24 + *1/*25 + *1/*26 + *1/*27 + *1/*28 + *1/*35 + *9/*9 + *17/*17 + *20/*20 + *35/*35","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*9 + *1/*12","comparison_metabolizer_types":null} +{"pmcid":"PMC3175513","article_title":"Influence of genetic, biological and pharmacological factors on warfarin dose in a Southern Brazilian population of European ancestry","article_path":"articles/PMC3175513.md","variant_annotation_id":1184510348,"variant_haplotypes":"rs5896","gene":"F2","drugs":"warfarin","pmid":21320153,"phenotype_category":"Dosage","significance":"no","notes":"in a Southern Brazilian population of European ancestry. This F2 variant is not associated independently with warfarin dose. However, when it was included in the multiple linear regression (after controlling for covariates), statistically significant results were obtained.","sentence":"Genotype TT is associated with decreased dose of warfarin as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161580,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"(S)-methadone","pmid":21589866,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No details about which specific variants/alleles were tested for, however the authors state that genotyping of *1/*6 individuals did not exclude the possibility of them actually being *4/*9.","sentence":"CYP2B6 *6/*6 is associated with increased concentrations of (S)-methadone in people with Opioid-Related Disorders as compared to CYP2B6 *1/*1.","alleles":"*6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436760,"variant_haplotypes":"rs396991","gene":"FCGR3A","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 4.5E-3.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3912955","article_title":"Polymorphism of the complement receptor 1 gene correlates with the hematologic response to eculizumab in patients with paroxysmal nocturnal hemoglobinuria","article_path":"articles/PMC3912955.md","variant_annotation_id":1184512020,"variant_haplotypes":"rs2230199","gene":"C3","drugs":"eculizumab","pmid":24038027,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as no red blood cell transfusion at any time after the first 6 months on eculizumab treatment (patients had a median follow-up of 52 months, range of 11-98 months). In the paper, GG = Slow/Slow.","sentence":"Genotypes CC + CG is not associated with response to eculizumab in people with paroxysmal nocturnal hemoglobinuria as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:paroxysmal nocturnal hemoglobinuria","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11677811","article_title":"Pharmacogenetics of Neoadjuvant MAP Chemotherapy in Localized Osteosarcoma: A Study Based on Data from the GEIS-33 Protocol","article_path":"articles/PMC11677811.md","variant_annotation_id":1452809500,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"cisplatin, doxorubicin, methotrexate","pmid":39771563,"phenotype_category":"Efficacy","significance":"no","notes":"\"For ABCC2 rs2273697, 50% of patients with the GG genotype presented poor pathological response, compared to 81.8% of patients with GA or AA genotypes (p = 0.02 in a dominant model).\" \"Multivariate analyses including these two SNPs and age, gender and tumor site as covariates showed significant associations for both genetic variants: ABCC2 rs2273697 (OR 12.3, 95% CI 2.3\u201366.2; p = 0.003) and ERCC2 rs1799793 (OR 9.6, 95% CI 2.1\u201343.2; p = 0.003). However, these associations were not statistically significant after the Bonferroni test.\" \"Pathological response classification was dichotomized into good response (tumor necrosis \u2265 90%) and poor response (tumor necrosis (<90%). \"","sentence":"Genotypes AA + AG is associated with decreased clinical benefit to cisplatin, doxorubicin and methotrexate in people with Osteosarcoma as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5432414","article_title":"ABC Transporter Polymorphisms are Associated with Irinotecan Pharmacokinetics and Neutropenia","article_path":"articles/PMC5432414.md","variant_annotation_id":1448435381,"variant_haplotypes":"rs212082","gene":"ABCC1","drugs":"SN-38","pmid":27845419,"phenotype_category":"Metabolism/PK","significance":"no","notes":"AUC of SN-38 was adjusted for irinotecan dose.","sentence":"Genotypes AG + GG are not associated with exposure to SN-38 in people with Colorectal Neoplasms as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":982043687,"variant_haplotypes":"rs2246709","gene":"CYP3A4","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"no","notes":"No significant change in the likelihood of a man reaching a target mean arterial pressure concentration of <= 92 mmHg or <= 107 mmHg was seen between genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AG + GG are not associated with response to amlodipine in men with Hypertension as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC7086280","article_title":"Effect of ADRA2A gene polymorphisms on the anesthetic and analgesic effects of dexmedetomidine in Chinese Han women with cesarean section","article_path":"articles/PMC7086280.md","variant_annotation_id":1451146199,"variant_haplotypes":"rs1800035","gene":"ADRA2A","drugs":"dexmedetomidine","pmid":32256718,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CC genotype had significantly increased pain thresholds and significantly reduced VAS pain scores post-surgery than women with the CG or GG genotypes. There was no significant difference in pain thresholds between genotype group pre-surgery.","sentence":"Genotypes CG + GG are associated with decreased response to dexmedetomidine in women with Pain, Postoperative as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376560,"variant_haplotypes":"rs6858066","gene":"ADGRL3","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4332701","article_title":"Host Genetic Factors and Dendritic Cell Responses Associated with the Outcome of Interferon/Ribavirin Treatment in HIV-1/HCV Co-Infected Individuals","article_path":"articles/PMC4332701.md","variant_annotation_id":1444698141,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2b, ribavirin","pmid":25705565,"phenotype_category":"Efficacy","significance":"not stated","notes":"rs12979860 seems to be a better predictor of treatment outcome than rs4803217 and ss469415590 in HCV/HIV co-infective patients.\"rs12979860 showed a strong association with treatment response with ~60% of individuals with the most favorable genotype CC and only 25% of individuals with the least favorable genotype TT achieving sustained virological response (SVR).\" \"Approximately 33% of the individuals with rs4803217 intermediate genotype GT and only 25% of the individuals with least favorable genotype TT cleared the virus.; Approximately 33% of the individuals with most favorable ss469415590 genotype TT/TT and only 25% of the individuals with least favorable genotype delG/delG cleared the virus\"","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C and HIV Infections as compared to genotype TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection, Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238767,"variant_haplotypes":"rs1315115","gene":"NPAS3","drugs":"risperidone","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. Please note: the allele was reported as C (though this gene is found on the plus chromosomal strand). It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele G is associated with response to risperidone in people with Schizophrenia.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC1563530","article_title":"Safety of Voriconazole in a Patient with CYP2C9*2/CYP2C9*2 Genotype","article_path":"articles/PMC1563530.md","variant_annotation_id":1446906191,"variant_haplotypes":"CYP2C9*2","gene":"CYP2C9","drugs":"voriconazole","pmid":16940139,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Case report. One Caucasian patient homozygous for the CYP2C9 *2 allele (i.e. a poor metabolizer) and homozygous for the CYP2C19 wild-type *1 allele. The apparent oral clearance, area under the concentration-time curve from zero hours to infinity (AUC0-inf), volume of distribution and half-life time were \"not different\" (though note that they were not identical) between the patient with the *2/*2 genotype and healthy volunteers from a previous study with the *1/*1 genotype. No statistical analyses were done.","sentence":"CYP2C9 *2/*2 is not associated with concentrations of voriconazole.","alleles":"*2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104887,"variant_haplotypes":"rs6746030","gene":"SCN9A","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele A is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6800829","article_title":"Impact of SLCO1B3 Polymorphisms on Clinical Outcomes in Lung Allograft Recipients Receiving Mycophenolic Acid","article_path":"articles/PMC6800829.md","variant_annotation_id":1451101338,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"azathioprine, mycophenolic acid","pmid":30992538,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and survival post-transplantation or development of acute cellular rejection, lymphocytic bronchiolitis or chronic lung allograft dysfunction (CLAD).","sentence":"Allele G is not associated with response to azathioprine or mycophenolic acid in people with lung transplantation as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157212,"variant_haplotypes":"rs1042114","gene":"OPRD1","drugs":"buprenorphine","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.","sentence":"Allele G is not associated with response to buprenorphine in people with Opioid-Related Disorders as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4526634","article_title":"Association of ABCB1 and FLT3 Polymorphisms with Toxicities and Survival in Asian Patients Receiving Sunitinib for Renal Cell Carcinoma","article_path":"articles/PMC4526634.md","variant_annotation_id":1446765670,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"sunitinib","pmid":26244574,"phenotype_category":"Efficacy","significance":"yes","notes":"The genotype was associated with decreased clinical benefit but it was not associated with progression free survival, or overall survival, Clinical benefit was defined as either partial response or stable disease. This was more significant when calculated for the haplotype rs1045642 T, rs1128503 T, and rs2032582 T. Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AA is associated with decreased response to sunitinib in people with Carcinoma, Renal Cell as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5386607","article_title":"Association of the PPP3CA c.249G>A variant with clinical outcomes of tacrolimus-based therapy in kidney transplant recipients","article_path":"articles/PMC5386607.md","variant_annotation_id":1448819433,"variant_haplotypes":"rs3730251","gene":"PPP3CA","drugs":"tacrolimus","pmid":28435308,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"This variant did not influence clinical outcomes of patients receiving tacrolimus, including eGFR, levels of urea, creatinine, glucose, lipids, or blood counts, biopsy-confirmed acute rejection, delayed graft function, renal function, or adverse events. The authors note that those with the CT or TT genotype did have a 3.05-fold increased probability of treatment-induced blood and lymphatic system disorders as compared to the CC genotype, but this result was not maintained after adjusting for body weight and CYP3A5*3 status. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are not associated with response to tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5266160","article_title":"Clinical and genetic factors associated with warfarin maintenance dose in northern Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC5266160.md","variant_annotation_id":1448567667,"variant_haplotypes":"rs2260863","gene":"EPHX1","drugs":"warfarin","pmid":28079798,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype CG is associated with increased dose of warfarin in people with heart valve replacement as compared to genotype CC.","alleles":"CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5808057","article_title":"No major role of norepinephrine transporter gene variations in the cardiostimulant effects of MDMA","article_path":"articles/PMC5808057.md","variant_annotation_id":1449160225,"variant_haplotypes":"rs2242446","gene":"SLC6A2","drugs":"3,4-methylenedioxymethamphetamine","pmid":29198060,"phenotype_category":"Other","significance":"yes","notes":"The TT genotype was associated with decreased heart rate, but not plasma concentrations , or mean arterial pressure.","sentence":"Genotype TT are associated with decreased response to 3,4-methylenedioxymethamphetamine as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC11011338","article_title":"Impact of STAT6 Variants on the Response to Proton Pump Inhibitors and Comorbidities in Patients with Eosinophilic Esophagitis","article_path":"articles/PMC11011338.md","variant_annotation_id":1452447127,"variant_haplotypes":"rs12368672","gene":"STAT6","drugs":"Proton pump inhibitors","pmid":38612496,"phenotype_category":"Efficacy","significance":"no","notes":"as measured by PEC Reduction and EREFS Score Reduction. Alleles complemented. \"Patients with the STAT6 rs12368672 C/C genotype showed a lower reduction in EREFS score compared to patients with G/C + G/G genotypes (p = 0.011) (Table 5). Furthermore, a higher EREFS score reduction was observed in individuals with ABCB1 rs2032582 T/T+T/G genotypes compared to those with A/A+G/A+G/G genotypes (p = 0.045) (Table 5); none of these differences reached the threshold for statistical significance after the Bonferroni correction for multiple comparisons \"","sentence":"Genotypes CC + CG is associated with increased response to Proton pump inhibitors in people with eosinophilic esophagitis as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:eosinophilic esophagitis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4270923","article_title":"G Protein-Coupled Receptor Kinase 5 Gene Polymorphisms Are Associated with Postoperative Atrial Fibrillation Following Coronary Artery Bypass Graft Surgery in Patients Receiving Beta-Blockers","article_path":"articles/PMC4270923.md","variant_annotation_id":1451843527,"variant_haplotypes":"rs3740563","gene":"GRK5","drugs":"Beta Blocking Agents","pmid":25049040,"phenotype_category":"Efficacy","significance":"yes","notes":"Single-nucleotide polymorphisms in 10 candidate genes were tested for association with atrial fibrillation after coronary artery bypass grafting despite perioperative beta blocker therapy. rs3740563 is in strong linkage disequilibrium with rs4752292.","sentence":"Allele A is associated with decreased response to Beta Blocking Agents in people with Coronary Artery Disease as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11003701","article_title":"Escitalopram and sertraline population pharmacokinetic analysis in pediatric patients","article_path":"articles/PMC11003701.md","variant_annotation_id":1452263600,"variant_haplotypes":"CYP2C19 poor metabolizer","gene":"CYP2C19","drugs":"sertraline","pmid":37755681,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"No diference in CL/F between; patients who are normal, rapid, and ultrarapid metabolizers; was detected, and so these phenotypes were grouped during model development\" \"We observed; that poor and intermediate metabolizers had on average 65%; and 34% slower CL/F compared to normal, rapid, and ultrarapid metabolizers\"","sentence":"CYP2C19 intermediate metabolizer and poor metabolizer is associated with decreased clearance of sertraline in children as compared to CYP2C19 normal metabolizer and ultrarapid metabolizer and rapid metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and ultrarapid metabolizer and rapid metabolizer"} +{"pmcid":"PMC3910846","article_title":"Population Pharmacokinetic and Pharmacogenetic Analysis of Nevirapine in Hypersensitive and Tolerant HIV-Infected Patients from Malawi","article_path":"articles/PMC3910846.md","variant_annotation_id":1296598965,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"nevirapine","pmid":24217698,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Those with the GT and TT genotypes had a 7.6% and a 19.5% reduction in clearance of nevirapine, respectively, as compared to those with the GG genotype. This SNP remained in the multiple SNP analysis model after backwards elimination.","sentence":"Genotypes GT + TT is associated with decreased clearance of nevirapine in people with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4862932","article_title":"Single Dose, CYP2D6 Genotype-Stratified Pharmacokinetic Study of Atomoxetine in Children with ADHD","article_path":"articles/PMC4862932.md","variant_annotation_id":1447943838,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4, CYP2D6*4xN, CYP2D6*5, CYP2D6*9, CYP2D6*10, CYP2D6*29, CYP2D6*41","gene":"CYP2D6","drugs":"atomoxetine","pmid":26660002,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"single dose study with an average of 0.43 mg/kg. Children received either 10, 18, 25, 30 or 40 mg atomoxetine.","sentence":"CYP2D6 *4/*4xN + *4/*4 are associated with decreased clearance of atomoxetine in children with Attention Deficit Disorder with Hyperactivity as compared to CYP2D6 *1/*1 + *1/ *2 + *2/*4 + *1/*4 + *1/*3 + *2/*5 + *10/*41 + *9/*29.","alleles":"*4/*4xN + *4/*4","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/ *2 + *2/*4 + *1/*4 + *1/*3 + *2/*5 + *10/*41 + *9/*29","comparison_metabolizer_types":null} +{"pmcid":"PMC2884029","article_title":"The role of organic anion-transporting polypeptides and their common genetic variants in mycophenolic acid pharmacokinetics","article_path":"articles/PMC2884029.md","variant_annotation_id":981477567,"variant_haplotypes":"rs7311358","gene":"SLCO1B3","drugs":"mycophenolate mofetil","pmid":19890249,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This finding is for patients also treated with cyclosporine.","sentence":"Allele A is not associated with clearance of mycophenolate mofetil in people with Kidney Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC9536193","article_title":"Germline Polymorphisms as Biomarkers of Tumor Response in Colorectal Cancer Patients Treated with Anti-EGFR Monoclonal Antibodies: A Systematic Review and Meta-Analysis","article_path":"articles/PMC9536193.md","variant_annotation_id":1449165359,"variant_haplotypes":"rs712829","gene":"EGFR","drugs":"cetuximab, panitumumab","pmid":27897268,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis with 3 studies. The authors did not provide the exact number of patients but stated that \"the median number of patients per analysis was 110 (range 50 - 740)\". Most definitions of response were variations of the RECIST criteria.","sentence":"Allele T is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6969041","article_title":"Impact of CYP2C19 genotype on sertraline exposure in 1200 Scandinavian patients","article_path":"articles/PMC6969041.md","variant_annotation_id":1450933341,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"sertraline","pmid":31649299,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The harmonized sertraline serum concentrations in CYP2C19 PMs (carriers of 2 no function alleles) was 2.68-fold (p < 0.001, 95% confidence interval [CI] 2.16\u20133.31) higher compared to CYP2C19 NMs (*1/*1). A 3.00-fold (p < 0.001, 95% CI 2.46\u20133.66) higher concentration of N-desmethylsertraline was found in PMs compared to NMs. Compared with NMs, the N-desmethylsertraline-to-sertraline metabolic ratio was 1.26-fold higher in PMs (p = 0.009, 95% CI 1.07\u20131.46). In CYP2C19 PMs, the OR for having one or more TDM measurements above the target concentration range of 250 nM was 8.69 (p < 0.001, 95% CI 3.88\u201319.19). The study detected *2, *3, and *4 as no function alleles but did not report specific diplotypes. The diplotypes used in the annotations are representative.","sentence":"CYP2C19 *2/*2 + *2/*3 (assigned as poor metabolizer phenotype) are associated with decreased metabolism of sertraline as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*2/*2 + *2/*3","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5233579","article_title":"Metronidazole Metabolism in Neonates and the Interplay Between Ontogeny and Genetic Variation","article_path":"articles/PMC5233579.md","variant_annotation_id":1449576398,"variant_haplotypes":"CYP2A6*1, CYP2A6*17","gene":"CYP2A6","drugs":"metronidazole","pmid":27417511,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Infants with the *1/*17 genotype had similar metronidazole clearance and metabolic ratio values as *1/*1 infants.","sentence":"CYP2A6 *17 is not associated with clearance of metronidazole in infants as compared to CYP2A6 *1.","alleles":"*17","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in infants","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3292264","article_title":"Exploration of CYP450 and drug transporter genotypes and correlations with nevirapine exposure in Malawians","article_path":"articles/PMC3292264.md","variant_annotation_id":827823764,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"nevirapine","pmid":22111602,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"The CYP3A5*3 allele (rs776746 allele C) significantly decreases area under the concentration time curve (AUC) in a multiple variable model for determining nevirapine AUC, also including rs3745274 allele T and age. [stat_test: multiple linear regression]","sentence":"Genotype CC is associated with increased clearance of nevirapine in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3940150","article_title":"Underlying genetic structure impacts the association between CYP2B6 polymorphisms and response to efavirenz and nevirapine","article_path":"articles/PMC3940150.md","variant_annotation_id":1448993523,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz, non-nucleoside reverse transcriptase inhibitors","pmid":22951632,"phenotype_category":"Efficacy","significance":"yes","notes":"This variant was significantly associated with virologic suppression (OR=3.61, 95% CI 1.16-11.22, p trend=0.03) after adjustment for genetic ancestry PCs.","sentence":"Allele T is associated with increased response to efavirenz or non-nucleoside reverse transcriptase inhibitors in women with HIV Infections as compared to genotype GG.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491228,"variant_haplotypes":"rs31244","gene":"SV2C","drugs":"quetiapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype GG is not associated with response to quetiapine in people with Schizophrenia as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3068061","article_title":"Thymidylate Synthase Genotype-Directed Neoadjuvant Chemoradiation for Patients With Rectal Adenocarcinoma","article_path":"articles/PMC3068061.md","variant_annotation_id":769165185,"variant_haplotypes":"rs45445694","gene":"C18orf56, TYMS","drugs":"irinotecan","pmid":21205745,"phenotype_category":"Dosage","significance":"no","notes":"Patients with TYMS *2/*2, *2/*3, or *2/*4 (good risk) were treated with standard chemoradiotherapy using infusional FU at 225 mg/m(2)/d. Patients with TYMS *3/*3 or *3/*4 (poor risk) were treated with FU/RT plus weekly intravenous irinotecan at 50 mg/m(2).","sentence":"Genotypes (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 + (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)4 is associated with increased dose of irinotecan in people with Rectal Neoplasms as compared to genotypes (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 + (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3.","alleles":"(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 + (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 + (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3","comparison_metabolizer_types":null} +{"pmcid":"PMC4707035","article_title":"Evaluation of genetic association of neurodevelopment and neuroimmunological genes with antipsychotic treatment response in schizophrenia in Indian populations","article_path":"articles/PMC4707035.md","variant_annotation_id":1447681639,"variant_haplotypes":"rs4795893","gene":"CCL2","drugs":"antipsychotics","pmid":26788534,"phenotype_category":"Efficacy","significance":"yes","notes":"In low severity schizophrenia patient subgroup","sentence":"Allele G is associated with decreased response to antipsychotics in people with Schizophrenia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438726,"variant_haplotypes":"rs142693425","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 5.0E-9.","sentence":"Allele CTT is not associated with clearance of tenofovir in people with HIV Infections as compared to allele del.","alleles":"CTT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} +{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703542,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype was not significantly with associated with likelihood of achieving complete molecular response (CMR) within 12 months. CMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; CMR was a ratio <= 0.0032%. Please note that alleles have been complemented to the plus chromosomal strand, and that this SNP was listed as rs60023214.","sentence":"Genotype GG is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC1885108","article_title":"Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes","article_path":"articles/PMC1885108.md","variant_annotation_id":982043225,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"pravastatin","pmid":16722833,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association was found between changes in cholesterol levels or triglycerides and this SNP.","sentence":"Allele G is not associated with response to pravastatin in children with Hyperlipoproteinemia Type II as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Hyperlipoproteinemia Type II","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6125540","article_title":"Is It Time for Systematic Voriconazole Pharmacogenomic Investigation for Central Nervous System Aspergillosis?","article_path":"articles/PMC6125540.md","variant_annotation_id":1449732350,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":29967027,"phenotype_category":"Efficacy","significance":"not stated","notes":"Case report. A 39-year-old woman developed central nervous system aspergillosis. She was treated with therapeutic drug monitoring-guided voriconazole therapy. Optimal trough concentrations were difficult to reach despite very high doses of voriconazole. Caspofungin was added, and voriconazole dose was increased to 400mg t.i.d. The patient was then found to be heterozygous for the CYP2C19*17 variant. One month after combined and adjusted dose of voriconazole, patient had clinical improvement. Authors state that this CYP2C19 mutation was \"partially responsible for the therapeutic failure of voriconazole\".","sentence":"CYP2C19 *1/*17 is associated with decreased response to voriconazole in people with Mycoses.","alleles":"*1/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Mycoses","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104980,"variant_haplotypes":"rs222747","gene":"TRPV1","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele C is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928254,"variant_haplotypes":"rs3813928","gene":"HTR2C","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC9328121","article_title":"Analysis of Genetic and Clinical Factors Associated with Buprenorphine Response","article_path":"articles/PMC9328121.md","variant_annotation_id":1451647563,"variant_haplotypes":"rs13169373","gene":null,"drugs":"buprenorphine","pmid":34488071,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors note that this association is nominally significant.","sentence":"Allele T is associated with increased response to buprenorphine in people with Opioid-Related Disorders as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271251,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"yes","notes":"Response defined by changes in the rate of dropout from treatment between genotypes. Authors designate this association as nominally significant as significance was lost following correction for multiple testing.","sentence":"SLC6A4 HTTLPR short form (S allele)/HTTLPR short form (S allele) is associated with decreased response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to SLC6A4 HTTLPR long form (L allele)/HTTLPR long form (L allele) + HTTLPR long form (L allele)/HTTLPR short form (S allele).","alleles":"HTTLPR short form (S allele)/HTTLPR short form (S allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR long form (L allele)/HTTLPR long form (L allele) + HTTLPR long form (L allele)/HTTLPR short form (S allele)","comparison_metabolizer_types":null} +{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451974300,"variant_haplotypes":"rs2230414","gene":"RASGRP2","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":"alleles complemented.","sentence":"Allele T is not associated with increased resistance to clopidogrel in people with Coronary Disease as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3673300","article_title":"Fixed dose capecitabine is feasible: results from a pharmacokinetic and pharmacogenetic study in metastatic breast cancer","article_path":"articles/PMC3673300.md","variant_annotation_id":1183682299,"variant_haplotypes":"rs1801159","gene":"DPYD","drugs":"capecitabine","pmid":23588952,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant differences in the area under the concentration-time curve from 0 to infinity (AUCinf) were seen between any of the genotypes (CC, CT, TT). Nor were any significant differences seen between these genotypes when considering the capecitabine metabolites 5'-DFCR, 5'-DFUR or 5'FU (5'-fluorouracil). Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is not associated with metabolism of capecitabine in people with Breast Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":655388206,"variant_haplotypes":"rs6922548","gene":"PPARD","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with dbSNP, actual base not listed in paper)","sentence":"Allele G is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715558,"variant_haplotypes":"rs7668282","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Dosage","significance":"no","notes":"There was no significant difference in 24 hour fentanyl use between the genotype groups.","sentence":"Allele C is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166319,"variant_haplotypes":"rs11553441","gene":"RRP7A","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729160,"variant_haplotypes":"rs3745276","gene":"CYP2B6","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes AA + AG is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491483,"variant_haplotypes":"rs1458038","gene":"FGF5","drugs":"atenolol","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in systolic blood pressure (SBP) and diastolic blood pressure (DBP) after 9 weeks of treatment.","sentence":"Genotypes CT + TT are not associated with response to atenolol in people with Hypertension as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC8533258","article_title":"Exploring the Role of Alcohol Metabolizing Genotypes in a 12-Week Clinical Trial of Naltrexone for Alcohol Use Disorder","article_path":"articles/PMC8533258.md","variant_annotation_id":1451648921,"variant_haplotypes":"rs2066702","gene":"ADH1B","drugs":"naltrexone","pmid":34680127,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. The A allele is also referred to as the ADH1B*3 allele in the paper. Patients carrying the A allele reported more drinking days during naltrexone treatment.","sentence":"Allele A is associated with decreased response to naltrexone in men with Alcoholism as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983239,"variant_haplotypes":"rs672170","gene":"RGS17","drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here. Remission considered to be score < or equal to 7 at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele A is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7497848","article_title":"Potential role of polymorphisms in the transporter genes ENT1 and MATE1/OCT2 in predicting TAS-102 efficacy and toxicity in patients with refractory metastatic colorectal cancer","article_path":"articles/PMC7497848.md","variant_annotation_id":1449146811,"variant_haplotypes":"rs2289669","gene":"SLC47A1","drugs":"tipiracil hydrochloride, trifluridine","pmid":28992563,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was tested for association alone and with three other SNPs after univariate and multivariate analysis in a training (N= 52, Japan) and testing cohorts (N = 127, Italy). It was not significant with progression-free or overall survival in either cohorts.","sentence":"Allele A is not associated with response to tipiracil hydrochloride and trifluridine in people with Colorectal Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4168390","article_title":"Characterizing variability in warfarin dose requirements in children using modelling and simulation","article_path":"articles/PMC4168390.md","variant_annotation_id":1184654383,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":24330000,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"A model was created to predict maintenance doses for children of different ages, all with a baseline INR of 1 and a target INR of 2.5, based on longitudinal data from children taking warfarin. Due to the nature of the model, the quantitative CYP2C9 allele effects on clearance were assumed to be the same as for adults - n=2 children had the *2/*2 genotype in the data cohort. CYP2C9 genotype, VKORC1 genotype, bodyweight, age, baseline INR, target INR and time since initiation of therapy were all found to be significant causes of warfarin dose variability in children. This association is based on a table presenting results from the model predicting warfarin dose for children of 2, 8 and 14 years old with different rs9923231 genotype and CYP2C9 genotype presented in the paper. CYP2C9*2 was defined as rs1799853 and *3 as rs1057910.","sentence":"CYP2C9 *2/*2 is associated with decreased dose of warfarin in children with Heart Diseases as compared to CYP2C9 *1/*1.","alleles":"*2/*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491488,"variant_haplotypes":"rs871606","gene":"CHIC2","drugs":"atenolol","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in systolic blood pressure (SBP) and diastolic blood pressure (DBP) after 9 weeks of treatment.","sentence":"Allele T is not associated with response to atenolol in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3114195","article_title":"IL28B genetic variations are associated with high sustained virological response (SVR) of interferon-\u03b1 plus ribavirin therapy in Taiwanese chronic HCV infection","article_path":"articles/PMC3114195.md","variant_annotation_id":1444705538,"variant_haplotypes":"rs10853728","gene":null,"drugs":"peginterferon alfa-2b, ribavirin","pmid":21346780,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype has decreased association with sustained virological response (SVR).","sentence":"Genotype GG is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} +{"pmcid":"PMC4854407","article_title":"A Common Susceptibility Gene for Type 2 Diabetes Is Associated with Drug Response to a DPP-4 Inhibitor: Pharmacogenomic Cohort in Okinawa Japan","article_path":"articles/PMC4854407.md","variant_annotation_id":1447987188,"variant_haplotypes":"rs7756992","gene":"CDKAL1","drugs":"Dipeptidyl peptidase 4 (DPP-4) inhibitors","pmid":27139004,"phenotype_category":"Efficacy","significance":"yes","notes":"The SNP was significantly associated with improved response to DPP-4 inhibitors (as assayed by reductions in HbA1c). Most of the patients were on combination anti-diabetic agent (ADA) therapy, but the relationship was only significant for regimens that included DPP-4 (alone or in combination with other ADAs).","sentence":"Allele G is associated with increased response to Dipeptidyl peptidase 4 (DPP-4) inhibitors in people with Diabetes Mellitus as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6328871","article_title":"Effects of OPRM1 and ABCB1 gene polymorphisms on the analgesic effect and dose of sufentanil after thoracoscopic-assisted radical resection of lung cancer","article_path":"articles/PMC6328871.md","variant_annotation_id":1450931998,"variant_haplotypes":"rs1323040","gene":"OPRM1","drugs":"sufentanil","pmid":30455395,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the GG genotype had significantly increased sufentanil consumption compared to patients with the AA or AG genotypes, while those with the AG genotype had significantly increased compared to patients with the AA genotype.","sentence":"Genotypes AG + GG are associated with increased dose of sufentanil in people with Lung Neoplasms and Pain, Postoperative as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"\"Other:Lung Neoplasms\", \"Other:Pain, Postoperative\"","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677286,"variant_haplotypes":"rs2289105","gene":"CYP19A1","drugs":"triglycerides","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole alone or with lipid lowering agents (LLA), such as statins. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with decreases in triglycerides of 36.45 mg/dL (SE 7.8).","sentence":"Allele C is associated with decreased concentrations of triglycerides in women with Breast Neoplasms and Menopause as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003393,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There is no association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: AG+AA (0.41 (0.12\u201341.63)) vs. GG (0.46 (0.09\u201310.88)). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotypes AA + AG are not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3246196","article_title":"Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition","article_path":"articles/PMC3246196.md","variant_annotation_id":1184747049,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*31, SLCO1B1*37","gene":"SLCO1B1","drugs":"methotrexate","pmid":22147369,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note *1B was mentioned in the article. SLCO1B1*1B was consolidated into SLCO1B1*37 by PharmVar in 2021.","sentence":"SLCO1B1 *31 is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to SLCO1B1 *1 + *37.","alleles":"*31","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *37","comparison_metabolizer_types":null} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113820,"variant_haplotypes":"rs495491","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele G is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6891932","article_title":"Effects of SLCO1B1 polymorphisms on plasma estrogen concentrations in women with breast cancer receiving aromatase inhibitors exemestane and letrozole","article_path":"articles/PMC6891932.md","variant_annotation_id":1450934903,"variant_haplotypes":"rs10841753","gene":"SLCO1B1","drugs":"estrone sulfate","pmid":31190621,"phenotype_category":"Efficacy","significance":"yes","notes":"when treated with aromatase inhibitors. Authors describe association for number of \"variant allele\" compared to \"wild type\" and in figure 2 show \"wild type\" as TT. \"Each rs10841753 variant allele was associated with a decreased risk of failing to achieve undetectable E1S concentrations after 3 months of AI therapy however, there was no significant effect on E1 or E2\" stratified analysis showed was confined to the exemestane arm not letrozole arm.","sentence":"Allele C is associated with decreased concentrations of estrone sulfate in women with Breast Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC10995391","article_title":"Effect of NAT2, GSTM1 and CYP2E1 genetic polymorphisms on plasma concentration of isoniazid and its metabolites in patients with tuberculosis, and the assessment of exposure-response relationships","article_path":"articles/PMC10995391.md","variant_annotation_id":1452443280,"variant_haplotypes":"rs6413432","gene":"CYP2E1","drugs":"isoniazid","pmid":38584604,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Similarly, pharmacokinetic parameters were compared between; patient groups divided according to the presence/absence of the each; CYP2E1 SNPs. Overall, only rs6413432 claimed a statistically significant difference for three INH pharmacokinetic parameters:; INH AUC0\u20136h, values were significantly higher, while median values; of both AcINH/INH MR and INA/INH MR were significantly lower; in patients with rs6413432 (Table 4).\"","sentence":"Allele A is associated with increased concentrations of isoniazid in people with Tuberculosis as compared to allele T (assigned as intermediate acetylator phenotype) .","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":"intermediate acetylator"} +{"pmcid":"PMC4513254","article_title":"Race influences warfarin dose changes associated with genetic factors","article_path":"articles/PMC4513254.md","variant_annotation_id":1445296671,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":26024874,"phenotype_category":"Dosage","significance":"yes","notes":"in both European Americans and African Americans. The dose reduction per variant allele was comparable among European Americans (34.6% vs 34.4%, interaction P value=0.98) vs. African Americans.","sentence":"CYP2C9 *1/*3 + *3/*3 are associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4701680","article_title":"Associations between Serotonergic Genes and Escitalopram Treatment Responses in Patients with Depressive Disorder and Acute Coronary Syndrome: The EsDEPACS Study","article_path":"articles/PMC4701680.md","variant_annotation_id":1452053764,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"escitalopram","pmid":26766959,"phenotype_category":"Efficacy","significance":"no","notes":"The 5-HTTLPR was not associated with significant differences in remission (HAMD) in patients receiving escitalopram.","sentence":"SLC6A4 HTTLPR long form (L allele) is not associated with response to escitalopram in people with Depressive Disorder, Major as compared to SLC6A4 HTTLPR short form (S allele).","alleles":"HTTLPR long form (L allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR short form (S allele)","comparison_metabolizer_types":null} +{"pmcid":"PMC2922203","article_title":"A novel CYP2A6 allele (CYP2A6*35) resulting in an amino acid substitution (Asn438Tyr) is associated with lower CYP2A6 activity in vivo","article_path":"articles/PMC2922203.md","variant_annotation_id":1451666180,"variant_haplotypes":"CYP2A6*1, CYP2A6*9, CYP2A6*17, CYP2A6*35","gene":"CYP2A6","drugs":"nicotine","pmid":19365400,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2A6 *1/*35 + *9/*35 + *17/*35 are associated with decreased metabolism of nicotine as compared to CYP2A6 *1/*1.","alleles":"*1/*35 + *9/*35 + *17/*35","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162739,"variant_haplotypes":"rs1800896","gene":"IL10","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3880259","article_title":"Association of ABCC2 \u221224C>T Polymorphism with High-Dose Methotrexate Plasma Concentrations and Toxicities in Childhood Acute Lymphoblastic Leukemia","article_path":"articles/PMC3880259.md","variant_annotation_id":1184175517,"variant_haplotypes":"rs2231137","gene":"ABCG2","drugs":"methotrexate","pmid":24404132,"phenotype_category":"Metabolism/PK","significance":"no","notes":"All patients received four cycles of high dose MTX (5000mg per square meter of body surface area). 1/10th of the dose was administered over 30 minutes (rapid infusion) and the rest was administered continuously over 24hrs. Leucovorin rescue was administered every 6hrs starting 48 hrs after initiation of MTX infusion.","sentence":"Allele C is not associated with clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4456129","article_title":"Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity","article_path":"articles/PMC4456129.md","variant_annotation_id":1444695435,"variant_haplotypes":"rs6277","gene":"DRD2","drugs":"methadone","pmid":25556837,"phenotype_category":"Dosage","significance":"no","notes":"Methadone maintenance dose was not associated with genotype of the SNP but it was correlated to the highest dose ever used. Multiple doses versus single dose, body weight, history of cocaine dependence and ethnicity (Asian>Caucasian>African) were independently associated with methadone dose in multiple regression analysis. Please note: alleles have been complemented to the + strand.","sentence":"Allele A is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10787143","article_title":"Impact of CYP2D6 and CYP2B6 phenotypes on the response to tramadol in patients with acute post\u2010surgical pain","article_path":"articles/PMC10787143.md","variant_annotation_id":1452347581,"variant_haplotypes":"CYP2D6 intermediate metabolizer","gene":"CYP2D6","drugs":"o-desmethyltramadol","pmid":38140786,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"CYP2D6 IMs+PMs showed significantly lower M130 and M1120 levels than NMs+UMs (univariate p<0.001 and p<0.001; multivariate p<0.001 and p=0.002, unstandardized \u03b2 coefficient=-13.40, -14.21, respectively); the association between M1120 levels and CYP2D6 phenotype reached the statistical threshold for significance after the Bonferroni correction for multiple comparisons (i.e., 0.05/3 factors, i.e., sex, pain rescue treatment and CYP2D6 phenotype=0.017).\"","sentence":"CYP2D6 intermediate metabolizer and poor metabolizer is associated with decreased concentrations of o-desmethyltramadol in people with Pain, Postoperative as compared to CYP2D6 normal metabolizer and ultrarapid metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and ultrarapid metabolizer"} +{"pmcid":"PMC10931982","article_title":"Comprehensive Assessment of CFTR Modulators\u2019 Therapeutic Efficiency for N1303K Variant","article_path":"articles/PMC10931982.md","variant_annotation_id":1452416527,"variant_haplotypes":"rs80034486","gene":"CFTR","drugs":"elexacaftor / tezacaftor / ivacaftor","pmid":38474016,"phenotype_category":"Efficacy","significance":"not stated","notes":"\"In our patient, FEV1 was improved by 4.7% (from 84.1% to 88.8% predicted) after a 3-month treatment.; After 3 months of ETI therapy, the BMI increased by 0.6 kg/m2 (body weight gain was 2.0 kg).\" \"For the first time, a comprehensive study was conducted on an example of one patient with the N1303K/class I genotype to examine the ETI effect on the restoration of CFTR function using ex vivo (ICM), in vitro (patient\u2019s intestinal organoids) and assessment of clinical parameters before and three months after treatment with ETI. All obtained results are consistent with each other and have proven the effectiveness of ETI for the N1303K variant.\"","sentence":"Genotype CG is associated with increased clinical benefit to elexacaftor / tezacaftor / ivacaftor in people with Cystic Fibrosis.","alleles":"CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6089815","article_title":"Interaction between ABCG2 421C>A polymorphism and valproate in their effects on steady\u2010state disposition of lamotrigine in adults with epilepsy","article_path":"articles/PMC6089815.md","variant_annotation_id":1449560369,"variant_haplotypes":"rs7668258","gene":"UGT2B7","drugs":"lamotrigine","pmid":29791014,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with concentrations of lamotrigine in people with Epilepsy as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376553,"variant_haplotypes":"rs1868790","gene":"ADGRL3","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"yes","notes":"For the genetic component, in the CGI-S model, a recessive effects for ADGRL3 rs1868790 was found, which was associated with significant impairment. Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS). Note the article only states the association of AA in a recessive model without referring to the compared allele. dbSNP references the rsID as T>G and T>A change.","sentence":"Genotype AA is associated with decreased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotypes AT + TT.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1448613418,"variant_haplotypes":"rs12248560","gene":"CYP2C19","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with AUC, AUC0-12 when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together. Only P-values for AUC presented here.","sentence":"Allele T is not associated with metabolism of selumetinib in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3521860","article_title":"Modifying Role of Serotonergic 5-HTTLPR & TPH2 Variants on Disulfiram Treatment of Cocaine Addiction: A Preliminary Study","article_path":"articles/PMC3521860.md","variant_annotation_id":1452010640,"variant_haplotypes":"SLC6A4 HTTLPR short form (S allele), SLC6A4 L allele-rs25531C, SLC6A4 L allele-rs25531T","gene":"SLC6A4","drugs":"disulfiram","pmid":22925276,"phenotype_category":"Efficacy","significance":"yes","notes":"There was no difference between disulfiram treatment and placebo for the L allele-rs25531T homozygotes (described in paper as L'L'). Authors grouped L allele-rs25531C with S allele and reported as S' (low serotonin transporter) \"During the initial two-week baseline period, the mean rate of cocaine positive urines differed between the S\u2032S\u2032/L\u2032S\u2032 and L\u2032L\u2032 genotype groups (t=2.218, p = 0.0304; 78% versus 92%)\"","sentence":"SLC6A4 HTTLPR short form (S allele) / HTTLPR short form (S allele) + HTTLPR short form (S allele) / L allele-rs25531C + L allele-rs25531C / L allele-rs25531C (assigned as low activity phenotype) is associated with increased response to disulfiram in people with Cocaine-Related Disorders as compared to SLC6A4 L allele-rs25531T / L allele-rs25531T (assigned as high activity phenotype) .","alleles":"HTTLPR short form (S allele) / HTTLPR short form (S allele) + HTTLPR short form (S allele) / L allele-rs25531C + L allele-rs25531C / L allele-rs25531C","specialty_population":null,"metabolizer_types":"low activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cocaine dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"L allele-rs25531T / L allele-rs25531T","comparison_metabolizer_types":"high activity"} +{"pmcid":"PMC6595468","article_title":"Relevance of CYP2B6 and CYP2D6 genotypes to methadone pharmacokinetics and response in the OPAL study","article_path":"articles/PMC6595468.md","variant_annotation_id":1450374142,"variant_haplotypes":"CYP2D6 poor and ultrarapid metabolizers","gene":"CYP2D6","drugs":"(R)-methadone","pmid":30907440,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2D6 poor metabolizer and ultrarapid metabolizer are not associated with concentrations of (R)-methadone in people with Opioid-Related Disorders as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer and ultrarapid metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} diff --git a/data/train.jsonl b/data/train.jsonl new file mode 100644 index 0000000..701a776 --- /dev/null +++ b/data/train.jsonl @@ -0,0 +1,3612 @@ +{"pmcid":"PMC6714673","article_title":"Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients","article_path":"articles/PMC6714673.md","variant_annotation_id":1449192282,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"warfarin","pmid":28049362,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype CT is associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3553682","article_title":"Impact of Pharmacogenetic Markers of CYP2B6, Clinical Factors, and Drug-Drug Interaction on Efavirenz Concentrations in HIV/Tuberculosis-Coinfected Patients","article_path":"articles/PMC3553682.md","variant_annotation_id":1183491471,"variant_haplotypes":"rs3211371","gene":"CYP2B6","drugs":"efavirenz","pmid":23254426,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in plasma concentrations of efavirenz (units = mg/L) were seen between the two genotypes. Fasting plasma efavirenz concentrations were measured 12 hours after the last dose, and after 12 weeks of treatment. p-value from univariate analysis with plasma concentration as the dependent variable.","sentence":"Genotype CC is not associated with clearance of efavirenz in people with HIV Infections as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4270923","article_title":"G Protein-Coupled Receptor Kinase 5 Gene Polymorphisms Are Associated with Postoperative Atrial Fibrillation Following Coronary Artery Bypass Graft Surgery in Patients Receiving Beta-Blockers","article_path":"articles/PMC4270923.md","variant_annotation_id":1451843520,"variant_haplotypes":"rs10787959","gene":"GRK5","drugs":"Beta Blocking Agents","pmid":25049040,"phenotype_category":"Efficacy","significance":"yes","notes":"Single-nucleotide polymorphisms in 10 candidate genes were tested for association with atrial fibrillation after coronary artery bypass grafting despite perioperative beta blocker therapy.","sentence":"Allele A is associated with decreased response to Beta Blocking Agents in people with Coronary Artery Disease as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4557249","article_title":"Association of serotonin transporter (SLC6A4) & receptor (5HTR1A, 5HTR2A) polymorphisms with response to treatment with escitalopram in patients with major depressive disorder: A preliminary study","article_path":"articles/PMC4557249.md","variant_annotation_id":1452040220,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"escitalopram","pmid":26261165,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"SLC6A4 HTTLPR long form (L allele) is not associated with response to escitalopram Depressive Disorder, Major as compared to SLC6A4 HTTLPR short form (S allele).","alleles":"HTTLPR long form (L allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR short form (S allele)","comparison_metabolizer_types":null} +{"pmcid":"PMC4220464","article_title":"Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins","article_path":"articles/PMC4220464.md","variant_annotation_id":1184997431,"variant_haplotypes":"rs646776","gene":"CELSR2","drugs":"hmg coa reductase inhibitors","pmid":25350695,"phenotype_category":"Efficacy","significance":"yes","notes":"Carriers of this SNP respond to statins with an additional 1.5% increase per allele in LDL-C lowering effect compared with non-carriers.","sentence":"Allele C is associated with increased response to hmg coa reductase inhibitors as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4730664","article_title":"The role of CYP3A5 polymorphism and dose adjustments following conversion of twice-daily to once-daily tacrolimus in renal transplant recipients","article_path":"articles/PMC4730664.md","variant_annotation_id":1447946747,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":26823971,"phenotype_category":"Dosage","significance":"yes","notes":"Patients converting from tacrolimus 2X daily (BID) to once daily (OD). A greater percentage of patients with the *1/*1 or *1/*3 genotype required some increase in dose following conversion as compared to those with the *3/*3 genotype (69% vs 47%). Additionally, the mean dose increase for those with the *1/*1 or *1/*3 genotype was higher as compared to those with the *3/*3 genotype (45.3% vs 26.6%).","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC11531276","article_title":"Pharmacogenomic Study of Selected Genes Affecting Amlodipine Blood Pressure Response in Patients with Hypertension","article_path":"articles/PMC11531276.md","variant_annotation_id":1452697461,"variant_haplotypes":"rs2239050","gene":"CACNA1C","drugs":"amlodipine","pmid":39492848,"phenotype_category":"Efficacy","significance":"yes","notes":"\"A strong association between amlodipine response and the SNP rs2239050/CACNA1C was observed in the study participants. Participants carrying the GG genotype had better response/outcomes (P=0.004) when treated with amlodipine than carriers of CC or CG genotypes. After adjusting for confounding factors (age, sex, drug and diet compliance, etc)., no observable changes were noticed in the degree, level, or magnitude of the association. \"","sentence":"Genotype GG is associated with increased clinical benefit to amlodipine in people with Hypertension as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} +{"pmcid":"PMC6313513","article_title":"Impact of Promoter Polymorphisms on the Transcriptional Regulation of the Organic Cation Transporter OCT1 (SLC22A1)","article_path":"articles/PMC6313513.md","variant_annotation_id":1452509920,"variant_haplotypes":"rs6935207","gene":"SLC22A1","drugs":"metformin","pmid":30544975,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of metformin in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680170,"variant_haplotypes":"rs295137","gene":"SPATS2L","drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"no","notes":"GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation. This was assessed as a replication attempt for a previously reported association of a different SPATS2L SNP with response to bronchodilators. Bonferroni correction was performed according to the number of SNPs included that are within 50 kb up and downstream of SPATS2L.","sentence":"Allele C is not associated with response to salbutamol in children with Asthma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3248257","article_title":"The population pharmacokinetics of R- and S-warfarin: effect of genetic and clinical factors","article_path":"articles/PMC3248257.md","variant_annotation_id":827863693,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":21692828,"phenotype_category":"Other, Metabolism/PK","significance":"not stated","notes":"For S-Warfarin in a model that included bodyweight, age and sex.","sentence":"CYP2C9 *3 is associated with decreased clearance of warfarin as compared to CYP2C9 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4693492","article_title":"Personalizing initial calcineurin inhibitor dosing by adjusting to donor CYP3A\u2010status in liver transplant patients","article_path":"articles/PMC4693492.md","variant_annotation_id":1446899553,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"cyclosporine, tacrolimus","pmid":26271661,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"The genotype refers to the genotype of the donor liver. Patients who were recipients of a liver transplantation from a donor with the CC genotype AND low or intermediate CYP3A4 mRNA levels needed a significantly decreased dose of cyclosporine or tacrolimus as compared to patients who whose liver donors had the rs776746 CC genotype AND high CYP3A4 mRNA levels, or rs776746 CT/TT genotypes regardless of CYP3A4 mRNA levels.","sentence":"Genotype CC is associated with decreased dose of cyclosporine or tacrolimus in people with liver transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4682920","article_title":"Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study","article_path":"articles/PMC4682920.md","variant_annotation_id":1447682467,"variant_haplotypes":"rs1801690","gene":"APOH","drugs":"boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":26670100,"phenotype_category":"Efficacy","significance":"no","notes":"This variant was not significantly associated with SVR to triple therapy including telaprevir or boceprevir in patients with compensated cirrhosis chronically infected with HCV-1.","sentence":"Allele C is not associated with increased response to boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183634307,"variant_haplotypes":"rs13223171","gene":"CNTNAP2","drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"Significance was not attained. Observations: 2.89 mm Hg increased reduction of systolic blood pressure per T allele in PEAR + GERA, 1.12 mm Hg decreased reduction of systolic blood pressure per T allele in NORDIL, and 1.59 mm Hg increased reduction of systolic blood pressure per T allele in PEAR + GERA + NORDIL.","sentence":"Allele T is not associated with response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479744,"variant_haplotypes":"rs11631682","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5904201","article_title":"Influence of APOA5 Locus on the Treatment Efficacy of Three Statins: Evidence From a Randomized Pilot Study in Chinese Subjects","article_path":"articles/PMC5904201.md","variant_annotation_id":1449311045,"variant_haplotypes":"rs662799","gene":"APOA5","drugs":"atorvastatin, rosuvastatin, simvastatin","pmid":29695967,"phenotype_category":"Other","significance":"yes","notes":"The correlation between APoB concentration and LDL cholesterol before and after treatment changed only slightly for the AG+GG genotypes (before rho = 0.55 p <0.001; after rho = 0.50 p<0.001) but decreased significantly for the AA genotype (before rho = 0.78 p<0.001; after rho 0.44 p<0.001) showing that the absolute reduction of ApoB was much smaller than the statin-induced reduction of LDLc. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AA is associated with response to atorvastatin, rosuvastatin and simvastatin in people with Dyslipidaemia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Dyslipidaemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC9974434","article_title":"The influence of NUDT15 variants on 6-mercaptopurine-induced neutropenia in Vietnamese pediatric acute lymphoblastic leukemia","article_path":"articles/PMC9974434.md","variant_annotation_id":1452035440,"variant_haplotypes":"NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*5, NUDT15*6","gene":"NUDT15","drugs":"mercaptopurine","pmid":36873097,"phenotype_category":"Dosage","significance":"yes","notes":"Median 6-MP adjusted dose (mg/m2/day) for IM was 48.7 and NM was 64.3","sentence":"NUDT15 *1/*2 + *1/*3 + *1/*5 + *1/*6 (assigned as intermediate metabolizer phenotype) is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to NUDT15 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*3 + *1/*5 + *1/*6","specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC7308427","article_title":"Polymorphisms of SLC19A1 80 G>A, MTHFR 677 C>T, and Tandem TS Repeats Influence Pharmacokinetics, Acute Liver Toxicity, and Vomiting in Children With Acute Lymphoblastic Leukemia Treated With High Doses of Methotrexate","article_path":"articles/PMC7308427.md","variant_annotation_id":1451552723,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"methotrexate","pmid":32612964,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"SNP is referred to in the paper as 677 C>T and was mapped to rs1801133 by PharmGKB. Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes AG + GG are associated with increased steady-state concentration of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"steady-state concentration of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":827784977,"variant_haplotypes":"rs2071427","gene":"NR1D1, THRA","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":"The authors describe this as a nominal association which did not survive correction for multiple testing.","sentence":"Allele T is associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2888980","article_title":"A Candidate Gene Analysis of Methylphenidate Response in Attention-Deficit/Hyperactivity Disorder","article_path":"articles/PMC2888980.md","variant_annotation_id":1450376375,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"methylphenidate","pmid":19858760,"phenotype_category":"Efficacy","significance":"no","notes":"Scales used to assess response: ADHD-RS-IV, SWAN, and Permanent product Measure of Performance (PERMP). A trend of effect was detected for the COMT variant. significance = p<0.025","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2364178","article_title":"Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene","article_path":"articles/PMC2364178.md","variant_annotation_id":1450950560,"variant_haplotypes":"rs3918290","gene":"DPYD","drugs":"fluorouracil","pmid":11953843,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"5-fluorouracil activity and DPD activity were compared between one patient with severe fluorouracil-induced toxicity and six control patients with normal 5-fluorouracil-related symptoms. All patients were being treated for colorectal cancer. The index patient was a 60-year-old white female who experienced leukopenia, thrombocytopenia, nausea, diarrhea, stomatitis, fever, hair loss. The control patients experienced mild nausea, vomiting, or grade 1 stomatitis. The clearance was 520 ml/min in the index patient vs 980-1780 mg/min in controls. The area under the curve from 0-3 hours in the index patient was 24.1 mgh/l vs 15.3 mgh/l as the highest value in controls. Sequence analysis revealed the index patient was heterozygous for the *2A (IVS14+1G>A) mutation. Sequence analysis of the six control patients revealed no mutations.","sentence":"Genotype CT is associated with decreased clearance of fluorouracil in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452437087,"variant_haplotypes":"rs7570090","gene":"RPE","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 6E-7.","sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2042718","article_title":"A novel mutant variant of the CYP2D6 gene (CYP2D6 17) common in a black African population: association with diminished debrisoquine hydroxylase activity","article_path":"articles/PMC2042718.md","variant_annotation_id":1447990805,"variant_haplotypes":"CYP2D6*1, CYP2D6*2","gene":"CYP2D6","drugs":"debrisoquine","pmid":8971426,"phenotype_category":"Metabolism/PK","significance":"no","notes":"MR of both diplotypes were similar, *1/*1(n=12) =0.56 and *1/*2 (n=13)=0.59.","sentence":"CYP2D6 *1/*2 is not associated with decreased metabolism of debrisoquine in healthy individuals as compared to CYP2D6 *1/*1.","alleles":"*1/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2888980","article_title":"A Candidate Gene Analysis of Methylphenidate Response in Attention-Deficit/Hyperactivity Disorder","article_path":"articles/PMC2888980.md","variant_annotation_id":1450376338,"variant_haplotypes":"rs5569","gene":"SLC6A2","drugs":"methylphenidate","pmid":19858760,"phenotype_category":"Efficacy","significance":"no","notes":"Scales used to assess response: ADHD-RS-IV, SWAN, and Permanent productMeasure of Performance (PERMP).","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6595468","article_title":"Relevance of CYP2B6 and CYP2D6 genotypes to methadone pharmacokinetics and response in the OPAL study","article_path":"articles/PMC6595468.md","variant_annotation_id":1450374111,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"(R)-methadone","pmid":30907440,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Significance was lost following multivariate analysis.","sentence":"Genotypes GT + TT are associated with increased concentrations of (R)-methadone in people with Opioid-Related Disorders as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2675161","article_title":"The Pharmacokinetics and Pharmacogenomics of Efavirenz and Lopinavir/Ritonavir in HIV-Infected Persons Requiring Hemodialysis","article_path":"articles/PMC2675161.md","variant_annotation_id":1448997679,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":18784455,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes GT + TT are associated with increased concentrations of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3383686","article_title":"Meta-Analysis on Pharmacogenetics of Platinum-Based Chemotherapy in Non Small Cell Lung Cancer (NSCLC) Patients","article_path":"articles/PMC3383686.md","variant_annotation_id":982046476,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"Platinum compounds","pmid":22761669,"phenotype_category":"Efficacy","significance":"no","notes":"When stratified by race, this association was only significant in the Asian population, not in the Caucasian population.","sentence":"Genotype GG is associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4500328","article_title":"Physiologically based pharmacokinetic model for 6-mercpatopurine: exploring the role of genetic polymorphism in TPMT enzyme activity","article_path":"articles/PMC4500328.md","variant_annotation_id":1444695511,"variant_haplotypes":"TPMT poor metabolizer","gene":"TPMT","drugs":"mercaptopurine","pmid":25614061,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"The PK model predicted plasma and tissue concentrations of mercaptopurine and its metabolites, including 6-thioguanine nucleotide, which is responsible for its activity and toxicity, with the use of various factors, including TPMT phenotypes.","sentence":"TPMT poor metabolizer is associated with increased concentrations of mercaptopurine as compared to TPMT normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038082,"variant_haplotypes":"rs2854116","gene":"APOC3","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677231,"variant_haplotypes":"rs1062033","gene":"CYP19A1","drugs":"hdl cholesterol","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole and lipid lowering agents (LLA), such as statins. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with increases in HDL-cholesterol of 6.9 mg/dL (SE 1.5).","sentence":"Allele G is associated with increased concentrations of hdl cholesterol in women with Breast Neoplasms and Menopause as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":982043670,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"no","notes":"No significant change in the likelihood of a patient reaching a target mean arterial pressure concentration of <= 92 mmHg or <= 107 mmHg was seen between genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are not associated with response to amlodipine in people with Hypertension as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3633658","article_title":"Pharmacogenetics for Genes Associated with Age-Related Macular Degeneration (AMD) in the Comparison of AMD Treatments Trials (CATT)","article_path":"articles/PMC3633658.md","variant_annotation_id":1183491546,"variant_haplotypes":"rs1061170","gene":"CFH","drugs":"bevacizumab, ranibizumab","pmid":23337555,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in mean visual acuity (units = letters), mean visual acuity change from baseline (units = letters), >= 15-letter increase from baseline (%), mean number of injections, retinal thickness (%, units = um), mean change in total foveal thickness from baseline (units = um), dry on optical coherence tomography (%), leakage on fluorescein angiography (%) or mean change in lesion size from baseline (units = disc area) after 1 year of treatment were seen between genotypes. p <= 0.01 was considered statistically significant to adjust for multiple comparisons.","sentence":"Genotype CC is not associated with response to bevacizumab or ranibizumab in people with Macular Degeneration as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104838,"variant_haplotypes":"rs4354668","gene":"SLC1A2","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele G is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449716020,"variant_haplotypes":"rs268214","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5074472","article_title":"Pharmacokinetics of Bupropion and Its Pharmacologically Active Metabolites in Pregnancy","article_path":"articles/PMC5074472.md","variant_annotation_id":1448257516,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"bupropion","pmid":27528039,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The AUC of steady state was compared.","sentence":"CYP2B6 *6 is associated with increased steady-state concentration of bupropion in women with Pregnancy as compared to CYP2B6 *1.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"steady-state concentration of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451727971,"variant_haplotypes":"rs17847029","gene":"CYP2C9","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotype CT is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6448146","article_title":"Influence of Genetic Variants on Steady-State Etonogestrel Concentrations Among Contraceptive Implant Users","article_path":"articles/PMC6448146.md","variant_annotation_id":1450375853,"variant_haplotypes":"rs2461817","gene":"NR1I2","drugs":"etonogestrel","pmid":30870275,"phenotype_category":"Efficacy, Metabolism/PK","significance":"no","notes":"Corrected P-value cutoff of 5.0E-4 was not met.","sentence":"Allele C is associated with increased steady-state concentration of etonogestrel in women as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"steady-state concentration of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4612590","article_title":"Pharmacogenetic Pathway Analysis of Docetaxel Elimination","article_path":"articles/PMC4612590.md","variant_annotation_id":1448107849,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"docetaxel","pmid":18509327,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The T allele corresponds with CYP3A5*1. The presence of the CYP3A5*1A allele was associated with a 49% (P = 0.020) increase in docetaxel clearance.","sentence":"Allele T is associated with increased clearance of docetaxel in people with Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678311,"variant_haplotypes":"rs2298771","gene":"SCN1A","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"no","notes":"In none of the measures that the authors used to measure exposure showed any association with the genotype. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype CC is not associated with metabolism of carbamazepine in people with Epilepsy as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3769669","article_title":"A published pharmacogenetic algorithm was poorly predictive of tacrolimus clearance in an independent cohort of renal transplant recipients","article_path":"articles/PMC3769669.md","variant_annotation_id":1183699984,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":23305195,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Genotype *1/*3 vs *3/*3 was reported. Clearance was estimated using the dose-normalized whole-blood trough concentration. The DeKAF algorithm was tested but it failed to predict tacrolimus clearance in this cohort.","sentence":"CYP3A5 *1/*3 is associated with increased clearance of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC4928097","article_title":"Association of HLA-DRB1 Haplotypes With Rheumatoid Arthritis Severity, Mortality, and Treatment Response","article_path":"articles/PMC4928097.md","variant_annotation_id":1451934500,"variant_haplotypes":"HLA-DRB1*04:01","gene":"HLA-DRB1","drugs":"adalimumab, etanercept, infliximab","pmid":25919528,"phenotype_category":"Efficacy","significance":"yes","notes":"Valine at position 11 (VKA haplotype is *04:01 based on table 1 in 22286218 with His at position 13 - position 13 not considered in this publication) was associated with better European League Against Rheumatism (EULAR) response to TNF inhibitor therapy (OR, 1.23 [95% CI, 1.06- 1.43]) 0.007.","sentence":"HLA-DRB1 *04:01 is associated with increased response to adalimumab, etanercept or infliximab in people with Arthritis, Rheumatoid.","alleles":"*04:01","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4025175","article_title":"The influence of CYP3A, PPARA, and POR genetic variants on the pharmacokinetics of tacrolimus and cyclosporine in renal transplant recipients","article_path":"articles/PMC4025175.md","variant_annotation_id":1184470380,"variant_haplotypes":"rs1057868","gene":"POR","drugs":"tacrolimus","pmid":24658827,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"A single steady-state concentration of tacrolimus was collected for each patient 2-7 wks post-transplant and compared to dose of tacrolimus administered to patients at Oslo University Hospital. Reported concentrations are \"steady-state dose-adjusted concentration\" of tacrolimus. Steady-state is defined as at least 3 days after last dose adjustment for Tac and 4 days for cyclosporine.","sentence":"Allele T is associated with increased metabolism of tacrolimus in people with Kidney Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729346,"variant_haplotypes":"rs28371759","gene":"CYP3A4","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotype AG is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1451155365,"variant_haplotypes":"rs10929302","gene":"UGT1A1","drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01. rs10929302 is reported as UGT1A1*93 (UGT1A1 *93/*93 is not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to UGT1A1 *1/*1 + *1/*93).","sentence":"Genotype AA is not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10967865","article_title":"Impact of Pharmacogenetic Testing on Clozapine Treatment Efficacy in Patients with Treatment-Resistant Schizophrenia","article_path":"articles/PMC10967865.md","variant_annotation_id":1452852980,"variant_haplotypes":"rs762551","gene":"CYP1A2","drugs":"clozapine","pmid":38540209,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"A significant difference in pharmacokinetic parameters was associated with the polymorphism of CYP1A2 gene encoding the main enzyme related to the metabolism of CLZ. Patient smokers (>7 cigarettes/day) with the *1F/*1F genotype for the CYP1A2 gene had significant differences according to CLZ plasma levels and C/D CLZ (p = 0.029 and p = 0.034, respectively) versus *1/*1F and *1/*1 genotypes. Patients with *1F/*1F (n = 49) showed lower values with significant differences between the smoker (n = 20) and non-smoker (n = 29) population according to CLZ dose, C/D total, C/D CLZ, and C/D NCLZ (p = 0.002, p = 0.035, p = 0.046, and p = 0.032, respectively).\" Annotation done on rs762551 (-163C>A). PharmVar released an updated CYP1A2 nomenclature 12/2024. At this point, -163 C>A was included in 26 core alleles with *30 being the SNP by itself. The 25 other core alleles include the -163 C>A SNP in addition to amino acid changes.","sentence":"Genotype AA is associated with decreased exposure to clozapine in people with Schizophrenia and Tobacco Use Disorder as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3657889","article_title":"Cytochrome P450 (CYP2C9*2,*3) & vitamin-K epoxide reductase complex (VKORC1 -1639G20 mg/wk (P=0.014).","sentence":"CYP2C9 *3 is associated with decreased dose of acenocoumarol as compared to CYP2C9 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703722,"variant_haplotypes":"rs9590353","gene":"UGGT2","drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in diastolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele G is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5980466","article_title":"Population pharmacokinetics and pharmacogenomics of apixaban in Japanese adult patients with atrial fibrillation","article_path":"articles/PMC5980466.md","variant_annotation_id":1449191990,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"apixaban","pmid":29457840,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes AA + AG are not associated with clearance of apixaban in people with Atrial Fibrillation as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4631184","article_title":"In vivo assessment of the metabolic activity of CYP2D6 diplotypes and alleles","article_path":"articles/PMC4631184.md","variant_annotation_id":1444711202,"variant_haplotypes":"CYP2D6 intermediate metabolizers","gene":"CYP2D6","drugs":"endoxifen","pmid":25907378,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The patients of the cohort (83% White, 15% Black) were genotype with AmpliChip CYP450 test. The variations used to define the star alleles are not reported. The diplotypes of the patients are not reported. The alleles found in the cohort are not explicit reported but graphic 3 shows *1, *2, *35, *9, *10, *17, *29, and *41. The study included UMs and PM but no CYP2D6 star allele is reported for those phenotypes. *1, *2, *35 are grouped as active alleles and any combination of these defines the extensive metabolizer. *9, *10, *17, *29, and *41 are grouped as reduced function alleles. The article subgroups the IMs into EM/IM, EM/PM, IM/IM, IM/PM.","sentence":"CYP2D6 intermediate metabolizer is associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815024,"variant_haplotypes":"rs2636719","gene":"PPA2","drugs":"risperidone","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of G alleles present in a patient was positively associated with CGI-S score. Please note that this variant is in high linkage disequilibrium with rs2636697.","sentence":"Allele A is associated with decreased response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376581,"variant_haplotypes":"rs5569","gene":"SLC6A2","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1448613426,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with AUC, AUC0-12 when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together. Only P-values for AUC presented here.","sentence":"Allele T is not associated with metabolism of selumetinib in healthy individuals as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5600689","article_title":"Impact of Single Nucleotide Polymorphisms on Plasma Concentrations of Efavirenz and Lopinavir/ritonavir in Chinese Children Infected with the Human Immunodeficiency Virus","article_path":"articles/PMC5600689.md","variant_annotation_id":1448821794,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"efavirenz","pmid":28718515,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes CC + CT are not associated with concentrations of efavirenz in children with HIV Infections as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928296,"variant_haplotypes":"rs6311","gene":"HTR2A","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to risperidone in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6612579","article_title":"Anastrozole Aromatase Inhibitor Plasma Drug Concentration Genome\u2010Wide Association Study: Functional Epistatic Interaction Between SLC38A7 and ALPPL2","article_path":"articles/PMC6612579.md","variant_annotation_id":1450807049,"variant_haplotypes":"rs28845026","gene":null,"drugs":"anastrozole","pmid":30648747,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The minor allele of this variant was associated with increased plasma concentrations of anastrozole in postmenopausal women with ER+ breast cancer.","sentence":"Allele T is associated with increased concentrations of anastrozole in women with Breast Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376612,"variant_haplotypes":"rs6551665","gene":"ADGRL3","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166088,"variant_haplotypes":"rs4902333","gene":"CHURC1","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele T is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161642,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"methadone","pmid":21589866,"phenotype_category":"Dosage","significance":"no","notes":"No significant difference in methadone dose between genotypes. No details about which specific variants/alleles were tested for.","sentence":"CYP2C9 *1/*3 + *2/*2 + *2/*3 + *3/*3 are not associated with dose of methadone in people with Opioid-Related Disorders as compared to CYP2C9 *1/*1 + *1/*2.","alleles":"*1/*3 + *2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557998,"variant_haplotypes":"rs5836788","gene":null,"drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele del is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5346878","article_title":"Tacrolimus dose requirements in paediatric renal allograft recipients are characterized by a biphasic course determined by age and bone maturation","article_path":"articles/PMC5346878.md","variant_annotation_id":1449171382,"variant_haplotypes":"CYP3A7*1A, CYP3A7*1C","gene":"CYP3A7","drugs":"tacrolimus","pmid":27966227,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Dose-corrected tacrolimus exposure (AUC0-12/doseBW).","sentence":"CYP3A7 *1A/*1A is associated with decreased concentrations of tacrolimus in children with Kidney Transplantation as compared to CYP3A7 *1A/*1C + *1C/*1C.","alleles":"*1A/*1A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1A/*1C + *1C/*1C","comparison_metabolizer_types":null} +{"pmcid":"PMC5323433","article_title":"Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer","article_path":"articles/PMC5323433.md","variant_annotation_id":1448489015,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"exemestane","pmid":27549341,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The *22 allele was associated with a 54% greater exemestane concentration, and remained significant after adjustment for covariates.","sentence":"CYP3A4 *1/*22 is associated with increased concentrations of exemestane in women with Breast Neoplasms as compared to CYP3A4 *1/*1.","alleles":"*1/*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC10967865","article_title":"Impact of Pharmacogenetic Testing on Clozapine Treatment Efficacy in Patients with Treatment-Resistant Schizophrenia","article_path":"articles/PMC10967865.md","variant_annotation_id":1452852900,"variant_haplotypes":"rs762551","gene":"CYP1A2","drugs":"clozapine","pmid":38540209,"phenotype_category":"Efficacy","significance":"yes","notes":"CYP1A2 *1F/*1F is associated with decreased clinical benefit to clozapine in people with Schizophrenia. \"CYP1A2 rs7625521 also demonstrated a significant association with the Brief Negative Symptom Scale (BNSS) expression factor subscale (p = 0.007) between *1F and *1 allele. Patients with the *1F/*1F genotype were associated with a significant worsening of expression factor subscale (p = 0.037). No association with BNSS overall score, BNSS Motivation and Pleasure Factor score, PANSS-positive score, Wellbeing (SWEMWBS) score, or Genal functioning (GAF) score.\" \"...impaired emotional expressivity is more prominently observed in patients carrying the *1F/*1F genotype as compared to patients with at least one wild type allele for CYP1A2 (*1 allele), potentially associated with a reduction in metabolism, leading to a poorer response.\" The quote has a typo that is in the paper, the correct rs number should be rs762551. Annotation done on rs762551 (-163C>A). PharmVar released an updated CYP1A2 nomenclature 12/2024. At this point, -163 C>A was included in 26 core alleles with *30 being the SNP by itself. The 25 other core alleles include the -163 C>A SNP in addition to amino acid changes.","sentence":"Genotype AA is associated with decreased clinical benefit to clozapine in people with Schizophrenia as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6179259","article_title":"KIF6 gene as a pharmacogenetic marker for lipid-lowering effect in statin treatment","article_path":"articles/PMC6179259.md","variant_annotation_id":1449748103,"variant_haplotypes":"rs20455","gene":"KIF6","drugs":"atorvastatin, simvastatin","pmid":30304062,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotype GG is associated with decreased response to atorvastatin or simvastatin in people with Hypercholesterolemia as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC2715837","article_title":"G-Protein-Coupled Receptor Kinase 4 Polymorphisms and Blood Pressure Response to Metoprolol Among African Americans: Sex-Specificity and Interactions","article_path":"articles/PMC2715837.md","variant_annotation_id":827864092,"variant_haplotypes":"rs1801058","gene":"GRK4","drugs":"metoprolol","pmid":19119263,"phenotype_category":"Efficacy","significance":"no","notes":"Note; TT (V486) homozygotes were excluded. Response was measured by time to reach a mean arterial pressure of < or = 107 mm Hg.","sentence":"Genotype CT is not associated with decreased response to metoprolol in men with hypertensive nephrosclerosis as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:hypertensive nephrosclerosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC11512548","article_title":"Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation","article_path":"articles/PMC11512548.md","variant_annotation_id":1452689000,"variant_haplotypes":"rs7483","gene":"GSTM3","drugs":"tacrolimus","pmid":39465171,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. This was seen only for donor not recipient: For donor \"Tac C/D ratios of donor GSTM3 rs7483 AA genotype were 231.0 \u00b1 164.9, 127.3 \u00b1 73.6, 120.4 \u00b1 82.4 and 116.1 \u00b1 71.1 at weeks 1, 2, 3 and 4 respectively. For AG and GG genotype carriers, the corresponding Tac C/D ratios at each time point were 328.2 \u00b1 243.6, 195.1 \u00b1 146.6, 213.4 \u00b1 219.6 and 235.20 \u00b1 180.3. The differences were significant (p = 0.035, 0.010, 0.035, 0.002, respectively).\"","sentence":"Genotype TT is associated with decreased concentrations of tacrolimus in people with Liver transplantation as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC10085626","article_title":"Novel and replicated clinical and genetic risk factors for toxicity from high-dose methotrexate in pediatric acute lymphoblastic leukemia","article_path":"articles/PMC10085626.md","variant_annotation_id":1452008029,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"methotrexate","pmid":36764694,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"The G allele of rs2306283, which causes a missense mutation in SLCO1B1, demonstrated a; decreased risk for prolonged clearance\"","sentence":"Allele G is associated with increased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2830602","article_title":"The impact of SLCO1B1 polymorphisms on the plasma concentration of lopinavir and ritonavir in HIV-infected men","article_path":"articles/PMC2830602.md","variant_annotation_id":1451114672,"variant_haplotypes":"rs11045819","gene":"SLCO1B1","drugs":"lopinavir, ritonavir","pmid":20078617,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association between this variant and trough concentrations of lopinavir or ritonavir in HIV patients treated with lopinavir/ritonavir. Variant referred to in the paper as 463C>A.","sentence":"Allele A is not associated with trough concentration of lopinavir or ritonavir in men with HIV Infections as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":"or","population_types":"in men with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4171106","article_title":"Genetic Variants in Transcription Factors Are Associated With the Pharmacokinetics and Pharmacodynamics of Metformin","article_path":"articles/PMC4171106.md","variant_annotation_id":1444668331,"variant_haplotypes":"rs784888","gene":"SP1","drugs":"metformin","pmid":24853734,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele G is associated with decreased clearance of metformin in healthy individuals as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4541974","article_title":"Impact of CYP2C19 polymorphism on the pharmacokinetics of nelfinavir in patients with pancreatic cancer","article_path":"articles/PMC4541974.md","variant_annotation_id":1444698605,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"nelfinavir","pmid":25752914,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"All patients were genotyped for CYP2C19 by RFLP analysis. Female and male patients were initially administered 750 or 900 mg/m2 gemcitabine IV over 30 min, 50 mg/m2 leucovorin IV over 30 min, and 2700 mg/m2 5-FU IV over 24 hours on day 1 weekly for 2 of 3 weeks for three cycles (day 1-63). Oral nelfinavir was given at 625 mg or 1250 mg twice daily for 3 weeks starting 2 weeks prior to initiation of radiation (days 56-75). 625 mg is better tolerated and preferred by patients. 1250 mg is the standard dose of nelfinavir when used to treat HIV patients. Differences in Cmax (mean) between genotype groups was only seen in the 1250 mg dose and not in the 650 mg dose. The AUC (0-12), terminal half-life, total body clearance (CLT/F) and apparent volume of distribution of nelfinavir (VD/F)did not significantly different between CYP2C19 genotype group.","sentence":"CYP2C19 *1/*2 is associated with increased concentrations of nelfinavir in people with Pancreatic Neoplasms as compared to CYP2C19 *1/*1.","alleles":"*1/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC10529681","article_title":"Pharmacogenetics and Pharmacokinetics of Tamoxifen in a Zimbabwean breast cancer cohort","article_path":"articles/PMC10529681.md","variant_annotation_id":1452139860,"variant_haplotypes":"CYP2D6 intermediate metabolizer","gene":"CYP2D6","drugs":"endoxifen","pmid":37337448,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The common phenotype; group was that of the normal metabolizers (NM), which was 67.5%. However, intermediate; metabolizers (IMs) had quite a significant frequency of 27.5%, while the frequency of; ultrarapid metabolizers (UMs) was 5%. There were no CYP2D6 poor metabolizers in this; study.\" Authors used CPIC phenotype classifications. \"55.0% were post-menopausal women\" \"All the recruited; participants were female except 1 who was male.\" \"Most of the breast cancer patients had a late diagnosis with at least; stage 3A breast cancer at diagnosis (64.9%)\"","sentence":"CYP2D6 intermediate metabolizer is associated with decreased concentrations of endoxifen in people with Breast Neoplasms as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3093079","article_title":"Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients","article_path":"articles/PMC3093079.md","variant_annotation_id":1444710945,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"4-hydroxytamoxifen, endoxifen, N-desmethyltamoxifen, tamoxifen","pmid":21480951,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Patients (pre- (83%) and postmenopausal (17%)) with ER and/or PR positive breast tumors, which received 20 mg tamoxifen daily. Patients taking CYP2D6 inhibitors were excluded. DNA extracted from blood.","sentence":"CYP2C9 *3 is not associated with concentrations of 4-hydroxytamoxifen, endoxifen, n-desmethyltamoxifen and tamoxifen in women with Breast Neoplasms as compared to CYP2C9 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC10951231","article_title":"Individualized atomoxetine response and tolerability in children with ADHD receiving different dosage regimens: the need for CYP2D6 genotyping and therapeutic drug monitoring to dance together","article_path":"articles/PMC10951231.md","variant_annotation_id":1452428860,"variant_haplotypes":"CYP2D6*10","gene":"CYP2D6","drugs":"atomoxetine","pmid":38504095,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"CYP2D6 IMs exhibited significantly higher atomoxetine C/D values than EMs under the three dosing regimens\" The regimens were qm (once morning), bid (twice daily) and qn (once nightly). Study measured CYP2D6*2, CYP2D6*10, and CYP2D6*14 and grouped *10/*10 as intermediate. There was only one PM that was excluded from analysis.","sentence":"CYP2D6 *10/*10 (assigned as intermediate metabolizer phenotype) is associated with increased exposure to atomoxetine in children with Attention Deficit Disorder with Hyperactivity as compared to CYP2D6 normal metabolizer.","alleles":"*10/*10","specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4669157","article_title":"HLA-G 3\u2019UTR Polymorphisms Impact the Prognosis of Stage II-III CRC Patients in Fluoropyrimidine-Based Treatment","article_path":"articles/PMC4669157.md","variant_annotation_id":1447678780,"variant_haplotypes":"rs17179108","gene":"HLA-G","drugs":"capecitabine, fluorouracil","pmid":26633805,"phenotype_category":"Efficacy","significance":"yes","notes":"The authors examined disease free survival (DFS) as well as overall survival (OS). The CT genotype was associated with improved DFS, but not OS.","sentence":"Genotype CT is associated with increased response to capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":982046688,"variant_haplotypes":"rs12714145","gene":"GGCX","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"Daily dose of phenprocoumon is not significantly associated with this SNP. Daily dose is negatively correlated with age. This study published an algorithm for daily dose that includes height, although height was not significant in univariate analysis. This SNP is also not significantly associated with phenprocoumon concentration.","sentence":"Genotype CC is not associated with increased dose of phenprocoumon as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479862,"variant_haplotypes":"rs17161981","gene":"CYP3A43","drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10557961","article_title":"Influence of CYP450 Enzymes and ABCB1 Polymorphisms on Clopidogrel Response in Moroccan Patients with Acute Coronary Syndromes","article_path":"articles/PMC10557961.md","variant_annotation_id":1452272060,"variant_haplotypes":"CYP2C19 normal metabolizer","gene":"CYP2C19","drugs":"clopidogrel","pmid":37810546,"phenotype_category":"Efficacy","significance":"no","notes":"\"Patients were subdivided into clopidogrel responder (PRU\u2264208) and clopidogrel non-responder group (PRU>208), 19 patients (34.55%) were clopidogrel non-responders, whereas 36 patients (65.45%) were clopidogrel responders. \" \"The tested alleles CYP2C9*3, Cyp2C19*2, Cyp2C19*3, CYP3A4*22, and CYP3A5*2 were not found in our study population\"","sentence":"CYP2C19 normal metabolizer is not associated with increased response to clopidogrel in people with Acute coronary syndrome as compared to CYP2C19 rapid metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Acute coronary syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"rapid metabolizer"} +{"pmcid":"PMC11758033","article_title":"Sodium channel mutation SCN1A T875M, D188V and associated dysfunction with drug resistant epilepsy","article_path":"articles/PMC11758033.md","variant_annotation_id":1452856366,"variant_haplotypes":"rs121917953","gene":"SCN1A","drugs":"antiepileptics","pmid":39974498,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The AT genotype exhibited significantly higher risk association with drug resistance with an odds ratio of 3.51 (95%CI = 1.256-3.826 and a P value = 0.017; Table 3).\" AA also had increased risk but not significant. grouped p value not shown. Drug regimens not specified","sentence":"Genotypes AA + AT is associated with increased resistance to antiepileptics in people with Epilepsy as compared to genotype TT.","alleles":"AA + AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452437097,"variant_haplotypes":"rs7841320","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 6E-7.","sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6510382","article_title":"VKORC1 and Novel CYP2C9 Variation Predict Warfarin Response in Alaska Native and American Indian People","article_path":"articles/PMC6510382.md","variant_annotation_id":1450370787,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":30821933,"phenotype_category":"Dosage","significance":"no","notes":"in Alaska Native and American Indian People.","sentence":"CYP2C9 *3 is not associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2652833","article_title":"A Genome-Wide Association Study Confirms VKORC1, CYP2C9, and CYP4F2 as Principal Genetic Determinants of Warfarin Dose","article_path":"articles/PMC2652833.md","variant_annotation_id":827641885,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":19300499,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with increased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5908314","article_title":"Pharmacogenetics-based area-under-curve model can predict efficacy and adverse events from axitinib in individual patients with advanced renal cell carcinoma","article_path":"articles/PMC5908314.md","variant_annotation_id":1449310602,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"axitinib","pmid":29682213,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors develop a prediction model and calculated area under the concentration curve (AUC) using 6 SNPs (rs17868323, rs3832043, rs2231142, rs2032582, rs1045642, rs35305980) was compared with actual AUC in 16 patients prospectively which significantly correlated with the objective response rate (P = 0.0002), hand-foot syndrome, P = 0.0055 and hypothyroidism, P = 0.0381, and correlated with actual AUC (P < 0.0001) - the validation study, calculated AUC prior to axitinib treatment precisely predicted actual AUC after axitinib treatment (P = 0.0066).","sentence":"Allele T is associated with concentrations of axitinib in people with Carcinoma, Renal Cell as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407809,"variant_haplotypes":"rs16918875","gene":"OPRK1","drugs":"butorphanol","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Study-wide significance was set to p<0.017.","sentence":"Allele A is not associated with response to butorphanol in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5323433","article_title":"Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer","article_path":"articles/PMC5323433.md","variant_annotation_id":1448496262,"variant_haplotypes":"rs10012","gene":"CYP1B1","drugs":"exemestane","pmid":27549341,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in exemestane concentrations were seen between the three genotypes. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CG are not associated with concentrations of exemestane in women with Breast Neoplasms as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3621996","article_title":"Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategy","article_path":"articles/PMC3621996.md","variant_annotation_id":1183682419,"variant_haplotypes":"rs80338792","gene":"SCN4A","drugs":"flecainide","pmid":23052413,"phenotype_category":"Efficacy","significance":"not stated","notes":"This case study showed two patients (mother and son) who both had the same genetic variant (presented in the paper as SCN4A G1306E) causing myotonia permanens. After years of poor response to mexiletine, patients were switched to flecainide and saw huge improvements. This suggests that patients with this myotonia permanens causing variation may benefit more from treatment with flecainide than mexilitine.","sentence":"Allele T is associated with increased response to flecainide in people with Myotonia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Myotonia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11475898","article_title":"Early CYP3A5 Genotype-Based Adjustment of Tacrolimus Dosage Reduces Risk of De Novo Donor-Specific HLA Antibodies and Rejection among CYP3A5-Expressing Renal Transplant Patients","article_path":"articles/PMC11475898.md","variant_annotation_id":1452648018,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":39410605,"phenotype_category":"Dosage","significance":"yes","notes":"\"However, CYP3A5 expressers required tacrolimus dosages 2-fold higher during follow-up and exhibited significantly lower C/D ratios than did nonexpressers. We detected no significant differences between expressers and nonexpressers in the incidence of delayed graft function, rejection, CNI nephrotoxicity, and development of de novo anti-HLA antibodies and de novo DSAs after the follow-up period of 2 years. Renal allograft function was also well preserved in both groups during follow-up.\" Only *3 was measured.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113980,"variant_haplotypes":"rs9322447","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele G is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038126,"variant_haplotypes":"rs11216158","gene":"APOA1","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.","sentence":"Genotypes AA + AG are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983326,"variant_haplotypes":"rs2299267","gene":"PON2","drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here (G). Response considered to be successful with a 50% reduction at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele G is associated with decreased response to antidepressants in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2830602","article_title":"The impact of SLCO1B1 polymorphisms on the plasma concentration of lopinavir and ritonavir in HIV-infected men","article_path":"articles/PMC2830602.md","variant_annotation_id":1451114660,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"ritonavir","pmid":20078617,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association between this variant and trough concentrations of ritonavir in HIV patients treated with lopinavir/ritonavir. Variant referred to in the paper as 521T>C.","sentence":"Allele C is not associated with trough concentration of ritonavir in men with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104967,"variant_haplotypes":"rs1800497","gene":"DRD2","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4833150","article_title":"Genetic markers in CYP2C19 and CYP2B6 for prediction of cyclophosphamide's 4\u2010hydroxylation, efficacy and side effects in Chinese patients with systemic lupus erythematosus","article_path":"articles/PMC4833150.md","variant_annotation_id":1446907717,"variant_haplotypes":"rs13059232","gene":"NR1I2","drugs":"cyclophosphamide","pmid":26456622,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This SNP had a small effect on cyclophosphamide (CPA) metabolite plasma concentrations (4-OH-CPA), but did not reach significance (Bonferroni corrected p-value= 0.0056).","sentence":"Allele C is not associated with metabolism of cyclophosphamide in people with as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3476140","article_title":"Association study between clinical response to rizatriptan and some candidate genes","article_path":"articles/PMC3476140.md","variant_annotation_id":1452551194,"variant_haplotypes":"rs1799732","gene":"DRD2","drugs":"rizatriptan","pmid":17563839,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders to rizatriptan. Variant referred to in the paper as DRD2-BstNI and mapped to rs1799732 by PharmGKB.","sentence":"Allele G is not associated with response to rizatriptan in people with Migraine without Aura as compared to allele del.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} +{"pmcid":"PMC11418302","article_title":"CYP2C19 genotype and sodium channel blockers in lacosamide-treated children with epilepsy: two major determinants of trough lacosamide concentration or clinical response","article_path":"articles/PMC11418302.md","variant_annotation_id":1452616160,"variant_haplotypes":"CYP2C19 normal metabolizer","gene":"CYP2C19","drugs":"lacosamide","pmid":39314259,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Patients with the NM phenotype exhibited lower drug exposure levels when compared to the IM and PM groups (\u03b2\u2009=\u2009\u22120.189, p\u2009<\u20090.001; Table 2). This pattern held true in the add-on therapy group as well, with NM individuals displaying lower exposure levels than IM and PM groups (\u03b2\u2009=\u2009\u22120.374, p\u2009<\u20090.001; Table 3).\"","sentence":"CYP2C19 normal metabolizer is associated with decreased exposure to lacosamide in children with Epilepsy as compared to CYP2C19 intermediate metabolizer and poor metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer and poor metabolizer"} +{"pmcid":"PMC4669157","article_title":"HLA-G 3\u2019UTR Polymorphisms Impact the Prognosis of Stage II-III CRC Patients in Fluoropyrimidine-Based Treatment","article_path":"articles/PMC4669157.md","variant_annotation_id":1447678633,"variant_haplotypes":"rs1710","gene":"HLA-G","drugs":"capecitabine, fluorouracil","pmid":26633805,"phenotype_category":"Efficacy","significance":"no","notes":"The authors examined disease free survival (DFS) as well as overall survival (OS). Neither were significantly associated with any genotype.","sentence":"Genotype GG is not associated with response to capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} +{"pmcid":"PMC10532907","article_title":"Pharmacogenetic Variants Associated with Fluoxetine Pharmacokinetics from a Bioequivalence Study in Healthy Subjects","article_path":"articles/PMC10532907.md","variant_annotation_id":1452260760,"variant_haplotypes":"rs1065852","gene":"CYP2D6","drugs":"fluoxetine","pmid":37763120,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The CYP2D6*10 haplotype, related to decreased CYP2D6 function (poor drug metabolism), was found in only one volunteer (subject 25), based on CYP2D6 rs1065852 (haplotype A/A) and rs11358490 (haplotype C/C). As shown in Table 2, t1/2 was three times higher (106.9 h) for this subject than the overall mean (31.02 h). AUCs and t1/2 were statistically different between genotypes of CYP2D6 rs1065852 (p < 0.001). Stratification of subjects based on CYP2D6 genotypes confirmed the difference in the PK profiles, based on the three SNVs found in this study (rs1065852, rs1135840, and rs28371703)\"","sentence":"Allele A is associated with increased half-life time of fluoxetine in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"half-life time of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5505550","article_title":"Efficacy of piroxicam for postoperative pain after lower third molar surgery associated with CYP2C8*3 and CYP2C9","article_path":"articles/PMC5505550.md","variant_annotation_id":1448820083,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"piroxicam","pmid":28740425,"phenotype_category":"Efficacy","significance":"not stated","notes":"Subjects had at least one impacted lower third molar extracted. Measurements were taken of 1) postoperative mouth opening (millimeters) was measured pre- and post-op on days 2 & 7 2) and swelling measurements due to edema were recorded and 3) subjective measures of pain. None were associated with the genotype.","sentence":"Allele T is not associated with response to piroxicam as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3978988","article_title":"Lack of association between plasma levels of non-nucleoside reverse transcriptase inhibitors & virological outcomes during rifampicin co-administration in HIV-infected TB patients","article_path":"articles/PMC3978988.md","variant_annotation_id":1448993476,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":24521642,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT is associated with increased concentrations of efavirenz in people with HIV Infections and Tuberculosis as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease, Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183633740,"variant_haplotypes":"rs2432742","gene":"CSMD3","drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"There was a trend in results but significance was not attained. Observations: 2.52 mm Hg increased reduction of diastolic blood pressure per A allele in PEAR + GERA, 0.07 mm Hg decreased reduction of diastolic blood pressure per A allele in NORDIL (small, opposite direction effect), and 1.57 mm Hg increased reduction of diastolic blood pressure per A allele in PEAR + GERA + NORDIL.","sentence":"Allele A is not associated with response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359269,"variant_haplotypes":"rs5320","gene":"DBH","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele A is not associated with response to heroin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3985268","article_title":"Variation in P450 oxidoreductase (POR) A503V and flavin containing monooxygenase (FMO)-3 E158K is associated with minor alterations in nicotine metabolism but does not alter cigarette consumption","article_path":"articles/PMC3985268.md","variant_annotation_id":1183703328,"variant_haplotypes":"rs1057868","gene":"POR","drugs":"nicotine","pmid":24448396,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Participants received 4 mg oral nicotine. 3HC/COT was measured.","sentence":"Genotypes CT + TT is associated with increased metabolism of nicotine in CYP2A6 normal, but not reduced, metabolizers as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in","population_phenotypes_or_diseases":"PK:CYP2A6 normal, but not reduced, metabolizers","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4585967","article_title":"Pharmacogenetics of Complement Factor H Y402H Polymorphism and Treatment of Neovascular AMD with Anti-VEGF Agents: A Meta-Analysis","article_path":"articles/PMC4585967.md","variant_annotation_id":1446902514,"variant_haplotypes":"rs1061170","gene":"CFH","drugs":"bevacizumab, ranibizumab","pmid":26411831,"phenotype_category":"Efficacy","significance":"yes","notes":"Neovascular age-related macular degeneration. Meta-analysis with 13 studies. Anti-VEGF treatment was much less effective in patients with the CC genotype as compared to those with the CT or TT genotype. Significant results were also seen when considering exclusively Caucasians, though no significant results were seen when considering exclusively East Asians. 10 of the 13 studies defined a positive outcome from anti-VEGF therapy as improvement in visual function (visual acuity), while the remaining three define it as an improvement in retinal morphology (resolution of macular edema). A sub-analysis was done on studies only considering response as improvement in visual acuity, with significant results.","sentence":"Genotype CC is associated with decreased response to bevacizumab and ranibizumab in people with Macular Degeneration as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2683977","article_title":"Use of Pharmacogenetic and Clinical Factors to Predict the Therapeutic Dose of Warfarin","article_path":"articles/PMC2683977.md","variant_annotation_id":827602228,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":18305455,"phenotype_category":"Dosage","significance":"yes","notes":"CYP2C9*3 was associated with a; 33% (95% confidence interval 29\u00bf37%) decrement in warfarin dose per allele.","sentence":"Allele C is associated with decreased dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2921956","article_title":"Identification of novel CYP2A6*1B variants; the CYP2A6*1B allele is associated with faster in vivo nicotine metabolism","article_path":"articles/PMC2921956.md","variant_annotation_id":827705096,"variant_haplotypes":"CYP2A6*1, CYP2A6*46","gene":"CYP2A6","drugs":"nicotine","pmid":17522595,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Includes alleles *1B1-*1B15. Please note that the *46 allele is described as the *1B1 allele in the paper and has subsequently been reassigned by PharmVar.","sentence":"CYP2A6 *46/*46 is associated with increased clearance of nicotine as compared to CYP2A6 *1/*1.","alleles":"*46/*46","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4551162","article_title":"Prognostic role of the LCS6 KRAS variant in locally advanced rectal cancer: results of the EXPERT-C trial","article_path":"articles/PMC4551162.md","variant_annotation_id":1446908428,"variant_haplotypes":"rs61764370","gene":"KRAS","drugs":"capecitabine, cetuximab, oxaliplatin","pmid":26162609,"phenotype_category":"Efficacy","significance":"yes","notes":"C allele carriers (there were no homozygotes) had a statistically significantly higher rate of complete response (CR) after neoadjuvant therapy and a trend for better 5-year progression-free survival (PFS) and overall survival. Both CR and survival outcomes were independent of the use of cetuximab. Patients received neoadjuvant CAPOX followed by chemoradiotherapy, surgery and adjuvant CAPOX plus or minus cetuximab","sentence":"Genotype AC is associated with increased response to capecitabine, cetuximab and oxaliplatin in people with Rectal Neoplasms as compared to genotype AA.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6033076","article_title":"Comprehensive Pharmacogenomic Study Reveals an Important Role of UGT1A3 in Montelukast Pharmacokinetics","article_path":"articles/PMC6033076.md","variant_annotation_id":1449576530,"variant_haplotypes":"CYP2C8*1, CYP2C8*3","gene":"CYP2C8","drugs":"montelukast","pmid":28940478,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This allele is associated with reduced area under the plasma concentration-time curve (AUC) of montelukast (11.3% reduction per copy of each allele, P=0.00659).","sentence":"CYP2C8 *3 is associated with decreased concentrations of montelukast in healthy individuals as compared to CYP2C8 *1/*1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5949564","article_title":"NUDT15 R139C Variants Increase the Risk of Azathioprine-Induced Leukopenia in Chinese Autoimmune Patients","article_path":"articles/PMC5949564.md","variant_annotation_id":1449750688,"variant_haplotypes":"rs116855232","gene":"NUDT15","drugs":"thioguanine","pmid":29867468,"phenotype_category":"Metabolism/PK","significance":"no","notes":"after treatment with azathioprine and 6-TGN was not significantly different between patients with leukopenia or the controls.","sentence":"Allele T is not associated with concentrations of thioguanine in people with Autoimmune Diseases, Lupus Erythematosus, Systemic or Sjogren's Syndrome as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Autoimmune Diseases, Disease:Systemic lupus erythematosus, Disease:Sjogren's Syndrome","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6071997","article_title":"Germline single nucleotide polymorphisms in ERBB3 and BARD1 genes result in a worse relapse free survival response for HER2-positive breast cancer patients treated with adjuvant based docetaxel, carboplatin and trastuzumab (TCH)","article_path":"articles/PMC6071997.md","variant_annotation_id":1449713624,"variant_haplotypes":"rs2284922","gene":"RNF8","drugs":"carboplatin, docetaxel, trastuzumab","pmid":30071039,"phenotype_category":"Efficacy","significance":"yes","notes":"When compared to women who received different treatment regimens. Response was defined as likelihood of achieving relapse-free survival. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is associated with increased response to carboplatin, docetaxel and trastuzumab in women with Breast Neoplasms.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10852661","article_title":"Effect of APOE and CHRNA7 Genotypes on the Cognitive Response to Cholinesterase Inhibitor Treatment at Different Stages of Alzheimer\u2019s Disease","article_path":"articles/PMC10852661.md","variant_annotation_id":1450973700,"variant_haplotypes":"rs429358","gene":"APOE","drugs":"donepezil, galantamine, rivastigmine","pmid":24951635,"phenotype_category":"Efficacy","significance":"yes","notes":"In patients with moderate to severe Alzheimer's disease only (baseline Mini-Mental State Examination (MMSE) score < 20); in patients with mild Alzheimer's (MMSE >=20) no significant/borderline significant results were seen (p=0.05). Adjusted for gender, age, and baseline MMSE. After 6 months of treatment with cholinesterase inhibitors, those with the E4 allele were more likely to be a non-responder to treatment, as compared to those without the E4 allele. A responder was defined as a patient who showed improvement or no deterioration in cognition comparing MMSE scores at baseline with MMSE scores after 6 months.","sentence":"Genotypes CC + CT is associated with decreased response to donepezil, galantamine and rivastigmine in people with Alzheimer Disease as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3433845","article_title":"Interplay of Genetic Risk Factors (CHRNA5-CHRNA3-CHRNB4) and Cessation Treatments in Smoking Cessation Success","article_path":"articles/PMC3433845.md","variant_annotation_id":827921983,"variant_haplotypes":"rs680244","gene":"CHRNA5","drugs":"Drugs used in nicotine dependence","pmid":22648373,"phenotype_category":"Other","significance":"yes","notes":"in haplotype analysis; individuals with haplotype 3 (rs16969968 allele A - rs680244 allele C) were more likely to respond to active treatment/ had a lower risk of relapse (ability to quit smoking as measured by time to relapse to smoking over 60 days) than those with haplotype 3 that were treated with placebo. The ability to quit cigarette smoking were not significantly different in individuals with haplotype 1 (rs16969968 allele G - rs680244 allele C) that underwent active treatment compared to placebo (p=0.36).","sentence":"Allele C is associated with increased response to Drugs used in nicotine dependence in people with Tobacco Use Disorder.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3476140","article_title":"Association study between clinical response to rizatriptan and some candidate genes","article_path":"articles/PMC3476140.md","variant_annotation_id":1452551140,"variant_haplotypes":"rs6275","gene":"DRD2","drugs":"rizatriptan","pmid":17563839,"phenotype_category":"Efficacy","significance":"yes","notes":"The AA and AG genotypes were significantly more frequent in patients classed as non-responders to rizatriptan. Please note that alleles have been complemented to the positive strand. Variant referred to in the paper as DRD2 NcoI and mapped to rs6275 by PharmGKB.","sentence":"Genotypes AA + AG are associated with decreased response to rizatriptan in people with Migraine without Aura as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3230303","article_title":"A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation","article_path":"articles/PMC3230303.md","variant_annotation_id":981755678,"variant_haplotypes":"rs75527207","gene":"CFTR","drugs":"ivacaftor","pmid":22047557,"phenotype_category":"Efficacy","significance":"not stated","notes":"A clinical trial that selected patients with the G551D CFTR mutation (rs75527207 genotype AA or AG). Patients without this mutation were excluded. One patient included in the placebo group was homozygous for F508del (rs113993960 genotype del/del).","sentence":"Genotypes AA + AG are associated with response to ivacaftor in people with Cystic Fibrosis.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6171340","article_title":"Pharmacogenetics of Antiepileptic Drug Efficacy in Childhood Absence Epilepsy","article_path":"articles/PMC6171340.md","variant_annotation_id":1451134380,"variant_haplotypes":"rs2753325","gene":"CACNA1H","drugs":"lamotrigine","pmid":28165634,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by minor allele frequency in not\u2013seizure\u2010free vs seizure-free children. Authors do not specify which allele is minor allele but state \"Two synonymous CACNA1H variants, located essentially next to each other (rs2753326 and rs2753325), were associated with greater seizure freedom in the lamotrigine group. Both have global minor allele frequency reported as 0.29 compared to 0.36 in the lamotrigine cohort.\" This does not seem to match with frequencies in Table 2. Assumed minor allele as same as dbSNP which was A and major allele as G.","sentence":"Allele A is associated with increased clinical benefit to lamotrigine in children with Epilepsy as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Efficacy:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2922203","article_title":"A novel CYP2A6 allele (CYP2A6*35) resulting in an amino acid substitution (Asn438Tyr) is associated with lower CYP2A6 activity in vivo","article_path":"articles/PMC2922203.md","variant_annotation_id":1451666225,"variant_haplotypes":"CYP2A6*1, CYP2A6*35","gene":"CYP2A6","drugs":"nicotine","pmid":19365400,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":null,"sentence":"CYP2A6 *35/*35 is associated with decreased metabolism of nicotine as compared to CYP2A6 *1/*1.","alleles":"*35/*35","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5807179","article_title":"Genome-wide association study of a nicotine metabolism biomarker in African American smokers: impact of chromosome 19 genetic influences","article_path":"articles/PMC5807179.md","variant_annotation_id":1448996513,"variant_haplotypes":"rs185430475","gene":"ZNF536","drugs":"nicotine","pmid":28921760,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Nicotine metabolism was assessed by measuring participants' nicotine metabolite ratio.","sentence":"Allele G is not associated with metabolism of nicotine as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6486881","article_title":"Replication of the pharmacogenetic effect of rs678849 on buprenorphine efficacy in African-Americans with opioid use disorder","article_path":"articles/PMC6486881.md","variant_annotation_id":1449753059,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"buprenorphine","pmid":30368523,"phenotype_category":"Efficacy","significance":"yes","notes":"Replication of the association first detailed in PMID 23612435. Efficacy was determined by the number of opioid-positive urine screens recorded during treatment.","sentence":"Genotype CC is associated with decreased response to buprenorphine in people with Opioid-Related Disorders as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4282597","article_title":"Pharmacogenetic associations of the type-3 metabotropic glutamate receptor (GRM3) gene with working memory and clinical symptom response to antipsychotics in first-episode schizophrenia","article_path":"articles/PMC4282597.md","variant_annotation_id":1446908024,"variant_haplotypes":"rs6465084","gene":"GRM3","drugs":"antipsychotics","pmid":25096017,"phenotype_category":"Toxicity","significance":"yes","notes":"Those with the AA genotype had reduced negative symptom severity (according to Brief Psychiatric Rating Scale (BPRS) negative symptoms subscale) as compared to those with the AG or GG genotype (who had minimal change or worsening in negative symptoms). Significant after correction for multiple comparisons.","sentence":"Genotype AA is associated with increased response to antipsychotics in people with Schizophrenia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3805522","article_title":"Evaluating Predictive Pharmacogenetic Signatures of Adverse Events in Colorectal Cancer Patients Treated with Fluoropyrimidines","article_path":"articles/PMC3805522.md","variant_annotation_id":1184471941,"variant_haplotypes":"rs3918290","gene":"DPYD","drugs":"capecitabine, fluorouracil","pmid":24167597,"phenotype_category":"Dosage","significance":"yes","notes":"Clinical data about adverse events were collected from patient records and laboratory charts for 12 weeks after the initiation of therapy. Delays or reductions in the administration of 5'FU or capecitabine due to adverse events were recorded as primary outcomes, and grade 3,4,5 adverse events were analyzed as secondary outcomes. \"Dose\" here refers to dose modification. Note: the reported parameters for this SNP are really for a haplotype (the authors refer to it as a \"signature\") that includes any minor alleles for the following SNPs: rs3918290 (T), rs67376798 (A), rs75017182(C), rs56038477 (T).","sentence":"Genotype CT is associated with dose of capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3237821","article_title":"ASSOCIATIONS OF ABCB1 3435C>T AND IL-10 -1082G>A POLYMORPHISMS WITH LONG-TERM SIROLIMUS DOSE REQUIREMENTS IN RENAL TRANSPLANT PATIENTS","article_path":"articles/PMC3237821.md","variant_annotation_id":1448567961,"variant_haplotypes":"CYP3A5*1, CYP3A5*6","gene":"CYP3A5","drugs":"sirolimus","pmid":22094953,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in log-transformed dose-adjusted trough concentrations (C/D) was seen between the two genotype groups.","sentence":"CYP3A5 *1/*1 is not associated with dose-adjusted trough concentrations of sirolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*6 + *6/*6.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*6 + *6/*6","comparison_metabolizer_types":null} +{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356800,"variant_haplotypes":"rs8904","gene":"NFKBIA","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5871545","article_title":"Variants in the CYP2B6 3\u2032UTR alter in vitro and in vivo CYP2B6 activity: potential role of microRNAs","article_path":"articles/PMC5871545.md","variant_annotation_id":1448997596,"variant_haplotypes":"rs3181842","gene":"CYP2B6","drugs":"efavirenz","pmid":28960269,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"For rs3181842, an increase in CYP2B6 activity was observed between volunteers with T/T versus T/C (31.9% increase; p<0.05) and C/C genotypes (70.6% increase; p<0.0001)\".","sentence":"Genotypes CC + CT are associated with increased metabolism of efavirenz in healthy individuals as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4456129","article_title":"Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity","article_path":"articles/PMC4456129.md","variant_annotation_id":1444695451,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methadone","pmid":25556837,"phenotype_category":"Dosage","significance":"no","notes":"Methadone maintenance dose was not associated with genotype of the SNP but it was correlated to the highest dose ever used. Multiple doses versus single dose, body weight, history of cocaine dependence and ethnicity (Asian>Caucasian>African) were independently associated with methadone dose in multiple regression analysis. Please note: alleles are complemented to the + chromosomal strand.","sentence":"Allele A is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5425333","article_title":"Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta\u2010Analysis","article_path":"articles/PMC5425333.md","variant_annotation_id":1448631790,"variant_haplotypes":"rs272893","gene":"SLC22A4","drugs":"metformin","pmid":27859023,"phenotype_category":"Efficacy","significance":"no","notes":"This variant is not associated with metformin glycemic response assessed as HbA1c reduction in patients on metformin monotherapy.","sentence":"Allele T is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680069,"variant_haplotypes":"rs77149876","gene":null,"drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"yes","notes":"The allele associated with increased response and low frequency is not explicitly stated. Response is increased for carriers of the rare, minor allele. GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation.","sentence":"Genotype CT is associated with increased response to salbutamol in children with Asthma as compared to genotype TT.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4366347","article_title":"Genetic Variation of the Mu Opioid Receptor (OPRM1) and Dopamine D2 Receptor (DRD2) is Related to Smoking Differences in Patients with Schizophrenia but not Bipolar Disorder","article_path":"articles/PMC4366347.md","variant_annotation_id":1450826625,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"nicotine","pmid":28548579,"phenotype_category":"Other","significance":"no","notes":"Analysis of the total cohort found no significant difference in number of cigarettes smoked per day between genotype groups.","sentence":"Genotypes AG + GG are not associated with exposure to nicotine in people with Bipolar Disorder or Schizophrenia as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Bipolar Disorder, Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678268,"variant_haplotypes":"rs2234922","gene":"EPHX1","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors evaluated maintenance dose-adjusted concentrations of carbamazepine (CBZ), its active metabolite, CBZ-epoxide (CBZE), and its inactive metabolite CBZ-diol (CBZD) as well as CBZE:CBZ, CBZD:CBZ and CBZD:CBZE ratios. The GG genotype is associated with a lower mean dose adj. CBZD concentration (microgram/mL per mg/Kg) (0.13 for the GG genotype vs. 0.21-0.24 for the AG and GG genotypes, respectively). The GG genotype also had a lower mean CBZD:CBZ (0.13 for GG vs. 0.24-0.26 for the AG and AA genotypes, respectively). Finally, the GG genotype was associated with a lower mean CBZD:CBZE (1.74 for GG vs. 3.95-3.08 for AG and AA, respectively).","sentence":"Genotype GG is associated with increased metabolism of carbamazepine in people with Epilepsy as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4575538","article_title":"Effects of CYP2B6 and CYP1A2 Genetic Variation on Nevirapine Plasma Concentration and Pharmacodynamics as Measured by CD4 Cell Count in Zimbabwean HIV-Infected Patients","article_path":"articles/PMC4575538.md","variant_annotation_id":1448110402,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"nevirapine","pmid":26348712,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Nevirapine was given as part of HAART therapy.","sentence":"Genotype TT is associated with increased concentrations of nevirapine in people with HIV Infections as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449558039,"variant_haplotypes":"rs6506569","gene":"PTPRM","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680746,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele T is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479840,"variant_haplotypes":"rs12535293","gene":"CYP3A43","drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4731723","article_title":"TOLLIP, MUC5B, and the Response to N-Acetylcysteine among Individuals with Idiopathic Pulmonary Fibrosis","article_path":"articles/PMC4731723.md","variant_annotation_id":1447982682,"variant_haplotypes":"rs5743890","gene":"TOLLIP","drugs":"acetylcysteine","pmid":26331942,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical endpoints included death, transplant, hospitalization, or FVC decline, and risk was adjusted for age, sex, prednisone use, azathioprine use, FVC, diffusion capacity of the lung, and trial/center. Alleles given on reverse strand A and G.","sentence":"Genotype TT is not associated with response to acetylcysteine in people with Pulmonary Fibrosis as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pulmonary Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121080,"variant_haplotypes":"rs6848893","gene":null,"drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test.","sentence":"Genotype CT is not associated with response to oxycodone as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407482,"variant_haplotypes":"rs702764","gene":"OPRK1","drugs":"morphine","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Study-wide significance was set to p<0.017.","sentence":"Allele C is not associated with response to morphine in healthy individuals as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4473094","article_title":"Impact of polymorphisms of the GGCX gene on maintenance warfarin dose in Chinese populations: Systematic review and meta-analysis","article_path":"articles/PMC4473094.md","variant_annotation_id":1444936331,"variant_haplotypes":"rs12714145","gene":"GGCX","drugs":"warfarin","pmid":26106580,"phenotype_category":"Dosage","significance":"no","notes":"This meta-analysis in Chinese patients showed no difference in mean daily warfarin dose (MDWD) for various genotypes of GGCX variant rs12714145.","sentence":"Allele T is not associated with dose of warfarin as compared to genotype CC.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4025175","article_title":"The influence of CYP3A, PPARA, and POR genetic variants on the pharmacokinetics of tacrolimus and cyclosporine in renal transplant recipients","article_path":"articles/PMC4025175.md","variant_annotation_id":1184470287,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"cyclosporine","pmid":24658827,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"A single steady-state concentration of cyclosporine was collected for each patient 2-7 wks post-transplant and compared to dose of cyclosporine administered to patients at Oslo University Hospital. Reported concentrations are \"steady-state dose-adjusted concentration\" of cyclosporine. Steady-state is defined as at least 3 days after last dose adjustment for Tac and 4 days for cyclosporine.","sentence":"Allele A is associated with decreased metabolism of cyclosporine in people with Kidney Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4522133","article_title":"Limited predictive value of achieving beneficial plasma (Z)-endoxifen threshold level by CYP2D6 genotyping in tamoxifen-treated Polish women with breast cancer","article_path":"articles/PMC4522133.md","variant_annotation_id":1448261019,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*4, CYP2D6*5, CYP2D6*10, CYP2D6*17, CYP2D6*41","gene":"CYP2D6","drugs":"endoxifen","pmid":26232141,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Pre- and post menopausal patients received 20 mg/day tamoxifen for at least 1 month (median duration 21.5 month). DNA source was blood and CYP2D6 was genotyped with TaqMan allelic discrimination assays. PM (non-functional) alleles include: CYP2D6*3, *4, *5, *6, *7; IM (reduced function) alleles include: CYP2D6*9, *10, *17, *41; EM (wt; fully functional) alleles include CYP2D6*1 and *2; UM (increased function) alleles include: duplication of EM variants of the gene, such as CYP2D6*1XN and *2XN. Patients were assigned a CYP2D6 genotype depending on the combination of alleles they carry, as PM/PM, IM/PM, IM/IM, EM/PM, EM/IM, EM/EM or EM/UM.","sentence":"CYP2D6 *4/*41 + *4/*10 + *4/*17 + *5/*41 are associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*2 + *1/*1 + *2/*2.","alleles":"*4/*41 + *4/*10 + *4/*17 + *5/*41","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*1 + *2/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC3941038","article_title":"Pharmacogenomics of selective serotonin reuptake inhibitor treatment for major depressive disorder: genome-wide associations and functional genomics","article_path":"articles/PMC3941038.md","variant_annotation_id":981344263,"variant_haplotypes":"rs11144870","gene":"RFK","drugs":"citalopram, escitalopram","pmid":22907730,"phenotype_category":"Efficacy","significance":"no","notes":"No SNP reached the genome-wide level of significance (P<10-7), although this variant was shown in functional molecular experiments to influence transcription by a reporter gene assay and to alter nuclear protein binding using an electrophoretic mobility shift assay.","sentence":"Allele T is associated with decreased response to citalopram or escitalopram in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896135,"variant_haplotypes":"rs73069924","gene":"MTMR12","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC10582663","article_title":"Tacrolimus pharmacokinetics are influenced by CYP3A5, age, and concomitant fluconazole in pediatric kidney transplant patients","article_path":"articles/PMC10582663.md","variant_annotation_id":1452140160,"variant_haplotypes":"CYP3A5 intermediate metabolizer and normal metabolizer","gene":"CYP3A5","drugs":"tacrolimus","pmid":37340713,"phenotype_category":"Dosage","significance":"yes","notes":"\"For CYP3A5, *1 (the normal function allele), *3, *6, *7, and *8 alleles were detected. Patients were then classified into two phenotypic categories of CYP3A5 IM/NMs, or CYP3A5 PMs as defined in the CPIC guidelines\"","sentence":"CYP3A5 intermediate metabolizer and normal metabolizer is associated with increased dose of tacrolimus in children with Kidney Transplantation as compared to CYP3A5 poor metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"normal metabolizer and intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"poor metabolizer"} +{"pmcid":"PMC9934922","article_title":"Impact of polymorphisms in CYP and UGT enzymes and ABC and SLCO1B1 transporters on the pharmacokinetics and safety of desvenlafaxine","article_path":"articles/PMC9934922.md","variant_annotation_id":1452023720,"variant_haplotypes":"UGT1A1 poor metabolizer","gene":"UGT1A1","drugs":"desvenlafaxine","pmid":36817149,"phenotype_category":"Metabolism/PK","significance":"no","notes":"as measured by increased Tmax. Authors state \"UGT1A1 rs887829 (*80) was used as a surrogate biomarker for *28.\" but do not explicitly state how that is is used to define PM, IM or NM. \"However, none of these associations; remained significant after Bonferroni correction for multiple; comparisons. \"","sentence":"UGT1A1 poor metabolizer is associated with increased exposure to desvenlafaxine in healthy individuals as compared to UGT1A1 intermediate metabolizer and normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} +{"pmcid":"PMC3100585","article_title":"Induction of CYP3A4 by Vinblastine: Role of the Nuclear Receptor NR1I2","article_path":"articles/PMC3100585.md","variant_annotation_id":827811153,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"midazolam","pmid":20959500,"phenotype_category":"Other, Metabolism/PK","significance":"no","notes":"It's not clear exactly what genotype comparison was done. Subjects were treated with vinblastine/valspodar. [stat_test: nonparametric 2-sided Wilcoxon signed-rank]","sentence":"Allele A is not associated with increased clearance of midazolam in people with Carcinoma, Renal Cell as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4631185","article_title":"Effect of carboxylesterase 1 c.428G\u2009>\u2009A single nucleotide variation on the pharmacokinetics of quinapril and enalapril","article_path":"articles/PMC4631185.md","variant_annotation_id":1446899459,"variant_haplotypes":"rs71647871","gene":"CES1","drugs":"enalapril","pmid":25919042,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was a fixed-order crossover study with two phases: following overnight fasting participants took a 10 mg dose of quinapril and, after a washout period of at least 1 week, a 10 mg dose of enalapril with 150 ml water in the morning and EDTA-prepared blood samples were drawn before and up to 24 hr, and up to 48 h after ingestion for the determination of the concentrations of quinapril and its metabolite quinaprilat, as well as enalapril and its metabolite enalaprilat. Urine was collected up to 12 h after quinapril and enalapril. Only AUC (0-infinity) and amount excreted in urine of enalaprilat were significantly different between genotype groups. Other PK parameters that were tested and not significantly different were Cmax, Tmax, T(1/2), and renal clearance.","sentence":"Genotype CT is not associated with clearance of enalapril in healthy individuals as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5908896","article_title":"Association of STAT-3 rs1053004 and VDR rs11574077 With FOLFIRI-Related Gastrointestinal Toxicity in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC5908896.md","variant_annotation_id":1449557385,"variant_haplotypes":"rs3767344","gene":"RXRG","drugs":"irinotecan","pmid":29706892,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with metabolism of irinotecan in people with Colorectal Neoplasms as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566667,"variant_haplotypes":"rs1229985","gene":"ADH1B","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this snp is NOT significant after Bonferroni correction (<0.00049). Also, the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele G is associated with metabolism of ethanol.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10970167","article_title":"PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis","article_path":"articles/PMC10970167.md","variant_annotation_id":1452433685,"variant_haplotypes":"rs322144","gene":"TSPAN16","drugs":"apremilast","pmid":38540428,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Allele-based association tests detected 64 SNPs displaying nominal p values < 0.05 (Table 2) including 10 SNPs with p values \u2264 0.01. \" Table 2 shows frequency of minor allele is responders and non-responders. Responder status maybe defined by PASI score improvement greater than 75% after 24\u201336 weeks of treatment.","sentence":"Allele C is associated with decreased clinical benefit to apremilast in people with Psoriasis as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC9841299","article_title":"Impact of NFIB and CYP1A variants on clozapine serum concentration\u2014A retrospective naturalistic cohort study on 526 patients with known smoking habits","article_path":"articles/PMC9841299.md","variant_annotation_id":1451893960,"variant_haplotypes":"rs28379954","gene":"NFIB","drugs":"clozapine","pmid":36152308,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"significance is only given for combination of both CYP1A rs2472297 C>T and NFIB rs28379954 T>C genotypes","sentence":"Genotype CT is associated with decreased dose-adjusted trough concentrations of clozapine in people with Tobacco Use Disorder as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5003027","article_title":"TSPAN5, ERICH3 and selective serotonin reuptake inhibitors in major depressive disorder: pharmacometabolomics-informed pharmacogenomics","article_path":"articles/PMC5003027.md","variant_annotation_id":1447979364,"variant_haplotypes":"rs11947402","gene":"TSPAN5","drugs":"citalopram, escitalopram","pmid":26903268,"phenotype_category":"Efficacy","significance":"no","notes":"This is one of SNP showed some association with plasma serotonin concentrations and was suspected to be associated with SSRI clinical response. When tested in the PGRN-AMPS GWAS and in two independent SSRI response GWAS (STAR*D and ISPC) it was not associated with response in any cohort.","sentence":"Allele G is not associated with response to citalopram and escitalopram in people with Depressive Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359265,"variant_haplotypes":"rs129915","gene":"DBH","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele G is not associated with response to heroin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4735517","article_title":"Genome-Wide Meta-Analysis of Cotinine Levels in Cigarette Smokers Identifies Locus at 4q13.2","article_path":"articles/PMC4735517.md","variant_annotation_id":1447814198,"variant_haplotypes":"rs77107237","gene":null,"drugs":"cotinine","pmid":26833182,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors conducted a GWAS meta-analysis to identify genetic variants associated with cotinine in current daily smokers (Caucasian). The following study cohorts were analyzed: ALSPAC, CARDIA, FinnTwin, Framingham, GenMets, MESA, NESDA, NTR, TwinsUK, YFS. The SNP was associated with a ~39 ng/ml increase in plasma/serum cotinine and accounted for 0.87% variance in cotinine levels.","sentence":"Allele G is associated with increased concentrations of cotinine in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC10566653","article_title":"Correlation of pain perception and fentanyl consumption after major abdominal surgery with CGRP 4218T/C polymorphism: A prospective interventional study","article_path":"articles/PMC10566653.md","variant_annotation_id":1452273340,"variant_haplotypes":"rs145837941","gene":"CALCA","drugs":"fentanyl","pmid":37829781,"phenotype_category":"Dosage","significance":"yes","notes":"Mapped CGRP 4218T/C to rs145837941 in the CALCA gene using PMID:23237777. Alleles complemented. Was significant for all the timepoints (0-6, 6-12, 12-24 and total).\"In the paired comparison of C/C versus T/C and C/C versus T/T, the C/C group had a significantly higher requirement of mean total postoperative fentanyl in the first 24 h than T/T (P < 0.001) and T/C (P < 0.001). \"","sentence":"Genotype GG is associated with increased dose of fentanyl in people with Pain, Postoperative as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4503374","article_title":"Individual and combined associations of genetic variants in CYP3A4, CYP3A5, and SLCO1B1 with simvastatin and simvastatin acid plasma concentrations","article_path":"articles/PMC4503374.md","variant_annotation_id":1446896996,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"simvastatin","pmid":26164721,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients were followed for 6 weeks (40 mg simvastatin at bedtime) and seen at the clinic at 2 week intervals. Patients with the *1/*22 diplotype had 58% higher plasma simvastatin concentration at 12 hours, respectively, as compared to those with the *1/*1 diplotypes.; In a separate analysis, the authors combined patients into groups based on their expected simvastatin acid/ simvastatin ratios (SVA/SV). The groups were low, intermediate, or high. The low and medium SVA/SV group included patients with the *1/*22 diplotype. There was a significant difference in 12 hr plasma SVA/SV ratios between the low, intermediate, and high SVA/SV ratio genotype groups.","sentence":"CYP3A4 *1/*22 is associated with increased concentrations of simvastatin in people with Hypercholesterolemia as compared to CYP3A4 *1/*1.","alleles":"*1/*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3016221","article_title":"Genetic variants in the KIF6 region and coronary event reduction from statin therapy","article_path":"articles/PMC3016221.md","variant_annotation_id":981482193,"variant_haplotypes":"rs9471077","gene":"KIF6","drugs":"atorvastatin, pravastatin","pmid":20886236,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AG + GG are associated with increased response to atorvastatin or pravastatin.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5346034","article_title":"Effect of UGT2B10, UGT2B17, FMO3, and OCT2 Genetic Variation on Nicotine and Cotinine Pharmacokinetics and Smoking in African Americans","article_path":"articles/PMC5346034.md","variant_annotation_id":1448602052,"variant_haplotypes":"rs2942857","gene":"UGT2B10","drugs":"cotinine","pmid":28178031,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This annotation was on rs116294140, but dbSNP has merged these two rs IDs.","sentence":"Genotype CC is associated with increased exposure to cotinine in people with Tobacco Use Disorder as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC5684285","article_title":"Influence of genetic co-factors on the population pharmacokinetic model for clopidogrel and its active thiol metabolite","article_path":"articles/PMC5684285.md","variant_annotation_id":1449002186,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"clopidogrel, clopidogrel thiol metabolite H4","pmid":28914344,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Full pharmacokinetic profile was obtained from 17 subjects at 0.5, 1, 2, 3, and 4 h post clopidogrel dose. From 46 subjects samples were collected at 0.5 and 2 h or 1 and 3 h post-dose. Subjects were receiving PCI or elective coronarography.","sentence":"Allele A is not associated with exposure to clopidogrel or clopidogrel thiol metabolite H4 as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3786668","article_title":"Human Polymorphisms in the Glutathione Transferase Zeta 1/Maleylacetoacetate Isomerase Gene Influence the Toxicokinetics of Dichloroacetate","article_path":"articles/PMC3786668.md","variant_annotation_id":827787019,"variant_haplotypes":"rs7972","gene":"GSTZ1, POMT2","drugs":"dichloroacetic acid","pmid":21642471,"phenotype_category":"Toxicity, Metabolism/PK","significance":"no","notes":"The statement above is meant for a haplotype rather than for the allele. For the various possible haplotype combinations involving rs7975,rs7972,rs1046428, the slowest clearance and the highest urinary excretion of unmetabolized C(13)-DCA was observed for a subject homozygous for G for rs7975,G for rs7972, T for rs1046428.","sentence":"Allele G is associated with decreased clearance of dichloroacetic acid in children with Mitochondrial Diseases.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Mitochondrial Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4195667","article_title":"Personalized Tacrolimus Dose Requirement by CYP3A5 but Not ABCB1 or ACE Genotyping in Both Recipient and Donor after Pediatric Liver Transplantation","article_path":"articles/PMC4195667.md","variant_annotation_id":1185012329,"variant_haplotypes":"rs1799752","gene":"ACE","drugs":"tacrolimus","pmid":25310192,"phenotype_category":"Dosage","significance":"no","notes":"All liver transplant recipients were given tacrolimus 2-3 days post liver transplantation. Weight adjusted dose and concentration to dose ratio (C/D) were the primary outcomes. Dose and C/D were calculated based on measurements taken on day 3, 7 and 14 post-transplantation as well as the the 1st, 3rd, 6th and 12th month post-transplantation. ACE genotype was not significantly associated with C/D of tacrolimus at any time point.","sentence":"Genotype del/del is not associated with concentrations of tacrolimus in children with liver transplantation.","alleles":"del/del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3555061","article_title":"Impact of the CYP2C8 *3 polymorphism on the drug\u2013drug interaction between gemfibrozil and pioglitazone","article_path":"articles/PMC3555061.md","variant_annotation_id":1449713390,"variant_haplotypes":"CYP2C8*1, CYP2C8*3","gene":"CYP2C8","drugs":"pioglitazone","pmid":22625877,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2C8 *1/*1 is associated with decreased clearance of pioglitazone in healthy individuals as compared to CYP2C8 *1/*3 + *3/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*3 + *3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC4034115","article_title":"Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders","article_path":"articles/PMC4034115.md","variant_annotation_id":1184510524,"variant_haplotypes":"rs11246226","gene":"DRD4","drugs":"methylphenidate","pmid":23856854,"phenotype_category":"Efficacy","significance":"yes","notes":"Positive response defined as Clinical Global Impression-Improvement (CGI-I) rating of 'much improved' or 'very much improved', and decrease in Aberrant Behavior Checklist-Hyperactivity subscale of >25% from baseline. This result was not significant when considering correction for multiple testing (p<0.002).","sentence":"Genotype AA is associated with increased response to methylphenidate in children with Autism Spectrum Disorder as compared to genotypes AC + CC.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Autism Spectrum Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6745302","article_title":"A functional variant in the serotonin receptor 7 gene (HTR7), rs7905446, is associated with good response to SSRIs in bipolar and unipolar depression","article_path":"articles/PMC6745302.md","variant_annotation_id":1450372692,"variant_haplotypes":"rs7905446","gene":"HTR7","drugs":"antidepressants","pmid":30874608,"phenotype_category":"Efficacy","significance":"yes","notes":"The TT genotype was associated with non-remission, white the GG and GT genotypes were associated with treatment remission at 6 weeks.","sentence":"Genotype TT is associated with decreased response to antidepressants in people with Depression as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359252,"variant_haplotypes":"rs6356","gene":"TH","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele T is not associated with response to heroin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1448522360,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate, overall survival or time to progression in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01.","sentence":"Genotype GG is not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2886925","article_title":"The Influence of CYP2C19 Polymorphism on Eradication of Helicobacter pylori: A Prospective Randomized Study of Lansoprazole and Rabeprazole","article_path":"articles/PMC2886925.md","variant_annotation_id":1183680085,"variant_haplotypes":"CYP2C19*1","gene":"CYP2C19","drugs":"lansoprazole","pmid":20559522,"phenotype_category":"Efficacy","significance":"no","notes":"as compared to the *1/*2 or *1/*3 genotype, or the *2/*2, *2/*3 or *3/*3 genotype. No significant differences in percent eradication rate of Helicobacter pylori (H. pylori) were seen between any of the genotype groups. Patients were also given amoxicillin and clarithromycin, and were treated for 1 week. Please note these genotypes were referred to by their previous designations of m1 (*2) and m2 (*3).","sentence":"CYP2C19 *1/*1 is not associated with response to lansoprazole in people with Helicobacter Infections.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC1885108","article_title":"Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes","article_path":"articles/PMC1885108.md","variant_annotation_id":982043146,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"pravastatin","pmid":16722833,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association was found with this SNP, though there was a trend for lower plasma concentrations in patients with the CT genotype. This variant was described as 521T>C.","sentence":"Genotype CT is not associated with increased metabolism of pravastatin in children with Hyperlipoproteinemia Type II as compared to genotype TT.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Hyperlipoproteinemia Type II","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4364852","article_title":"Response to the dipeptidyl peptidase-4 inhibitors in Japanese patients with type 2 diabetes might be associated with a diplotype of two single nucleotide polymorphisms on the interleukin-6 promoter region under a certain level of physical activity","article_path":"articles/PMC4364852.md","variant_annotation_id":1452876860,"variant_haplotypes":"rs2097677","gene":null,"drugs":"alogliptin, linagliptin, sitagliptin, teneligliptin, vildagliptin","pmid":25802725,"phenotype_category":"Efficacy","significance":"no","notes":"\"The result showed that the diplotype rs1800796 G/*\u2013rs2097677 A/* had a lower risk for being non-responders than C/C-G/G in the moderate/high group (adjusted odds ratio 0.153, 95% CI 0.044\u20130.535, P = 0.003), but not in the low group (Table6).\"","sentence":"Allele A is associated with increased response to alogliptin, linagliptin, sitagliptin, teneligliptin or vildagliptin in people with Diabetes Mellitus, Type 2 as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4922322","article_title":"\u00bbTreatment Resistance\u00ab Enigma Resolved by Pharmacogenomics - A Case Study of Clozapine Therapy in Schizophrenia","article_path":"articles/PMC4922322.md","variant_annotation_id":1452852875,"variant_haplotypes":"rs762551","gene":"CYP1A2","drugs":"clozapine","pmid":28356835,"phenotype_category":"Dosage","significance":"no","notes":"Case study: CYP1A2 *1F/*1F is associated with increased dose of clozapine in women with Schizophrenia. At does of 300mg/day with no other medication and under supervised compliance for 2 weeks the patient did not have therapeutic serum drug levels (therapeutic threshold: 0.03 mg/L) and dose was raised to 450 mg/day after which serum clozapine levels rose to 0.49 mg/l and PANSS decreased i.e.. response achieved. She was also genotyped for CYP2D6 and was *1/*4. Annotation done on rs762551 (-163C>A). PharmVar released an updated CYP1A2 nomenclature 12/2024. At this point, -163 C>A was included in 26 core alleles with *30 being the SNP by itself. The 25 other core alleles include the -163 C>A SNP in addition to amino acid changes.","sentence":"Genotype AA is associated with increased dose of clozapine in women with Schizophrenia.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170856,"variant_haplotypes":"CYP2C9 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2C9","drugs":"endoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2C9 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of endoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003645,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to lumefantrine in women with Malaria and Pregnancy as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4800352","article_title":"Development and Comparison of Warfarin Dosing Algorithms in Stroke Patients","article_path":"articles/PMC4800352.md","variant_annotation_id":1448267942,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":26996562,"phenotype_category":"Dosage","significance":"not stated","notes":"Warfarin dose was 6 mg/day in the one patient with the GG genotype, and 4.6+/-1.9 mg/day in the 17 patients with the AG genotype, as compared to 3.6+/-1.2 in patients with the AA genotype. Additionally, this study undertook the development of a warfarin pharmacogenetic dosing algorithm and then compared it against other dosing algorithms. This variant was included in the algorithm. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AG + GG are associated with increased dose of warfarin in people with Stroke as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Stroke","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5485718","article_title":"Genomewide Association Study Identifies Novel Genetic Loci That Modify Antiplatelet Effects and Pharmacokinetics of Clopidogrel","article_path":"articles/PMC5485718.md","variant_annotation_id":1448624859,"variant_haplotypes":"rs2254638","gene":"N6AMT1","drugs":"clopidogrel","pmid":27981573,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant was associated with decreased active metabolite H4 concentration.","sentence":"Allele G is associated with decreased metabolism of clopidogrel as compared to genotype AA.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3246196","article_title":"Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition","article_path":"articles/PMC3246196.md","variant_annotation_id":1184747027,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*15, SLCO1B1*37","gene":"SLCO1B1","drugs":"methotrexate","pmid":22147369,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note *1B was mentioned in the article. SLCO1B1*1B was consolidated into SLCO1B1*37 by PharmVar in 2021.","sentence":"SLCO1B1 *15 is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to SLCO1B1 *1 + *37.","alleles":"*15","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *37","comparison_metabolizer_types":null} +{"pmcid":"PMC7793629","article_title":"Evaluating the association of single-nucleotide polymorphisms with tenofovir exposure in a diverse prospective cohort of women living with HIV","article_path":"articles/PMC7793629.md","variant_annotation_id":1448821487,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"tenofovir","pmid":28462920,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the GT or TT genotype had a 1.51-fold increase in tenofovir area under the concentration-time curve (AUC) as compared to those with the GG genotype. Multivariable model controlling for age (per decade), body mass index (per 10 percent increase), African American race, ritonavir use, and whether eGFR is less than 70 ml/min per 1.73m2.","sentence":"Genotypes GT + TT are associated with increased concentrations of tenofovir in women with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184756997,"variant_haplotypes":"rs4653436","gene":"EPHX1","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele G is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6745302","article_title":"A functional variant in the serotonin receptor 7 gene (HTR7), rs7905446, is associated with good response to SSRIs in bipolar and unipolar depression","article_path":"articles/PMC6745302.md","variant_annotation_id":1450372722,"variant_haplotypes":"rs7905446","gene":"HTR7","drugs":"nortriptyline","pmid":30874608,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype TT is not associated with response to nortriptyline in people with Depression as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC11111788","article_title":"CYP2C19 and CYP2J2 genotypes predict praziquantel plasma exposure among Ethiopian school-aged children","article_path":"articles/PMC11111788.md","variant_annotation_id":1452484840,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"praziquantel","pmid":38778126,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"carriers of CYP2C19 (*2, *3) had an increase in mean PZQ plasma concentration of 0.27 ng/ml (95% CI 0.08\u20130.46 and p\u2009=\u20090.005) compared to CYP2C19 *1/*1, or *17 carriers.\" \" there was a significant association of CYP2C19 and CYP2J2 genotypes with PZQ plasma concentration and trans-4-OH PZQ/PZQ and Cis-4-OH PZQ/PZQ metabolic ratios. \"","sentence":"CYP2C19 *1/*2 + *2/*2 + *1/*3 + *3/*3 is associated with increased concentrations of praziquantel in children with Schistosomiasis as compared to CYP2C19 *1/*1 + *1/*17 + *17/*17.","alleles":"*1/*2 + *2/*2 + *1/*3 + *3/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Schistosomiasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17 + *17/*17","comparison_metabolizer_types":null} +{"pmcid":"PMC7221122","article_title":"Possible Genetic Determinants of Response to Phenytoin in a Group of Colombian Patients With Epilepsy","article_path":"articles/PMC7221122.md","variant_annotation_id":1451151740,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"phenytoin","pmid":32457604,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between the variant and the number of patients with drug-resistant epilepsy. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with resistance to phenytoin in people with Epilepsy as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6773496","article_title":"\u03b22-Adrenergic Receptor Gene Affects the Heart Rate Response of \u03b2-Blockers: Evidence From 3 Clinical Studies","article_path":"articles/PMC6773496.md","variant_annotation_id":1451107134,"variant_haplotypes":"rs1042714","gene":"ADRB2","drugs":"atenolol, metoprolol","pmid":31090079,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and response to atenolol or metoprolol, as measured by changes in heart rate, in black or Hispanic patients.","sentence":"Allele G is not associated with response to atenolol or metoprolol in people with Tachycardia as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tachycardia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5546927","article_title":"The Effect of Gene Variants on Levonorgestrel Pharmacokinetics when Combined with Antiretroviral Therapy containing Efavirenz or Nevirapine","article_path":"articles/PMC5546927.md","variant_annotation_id":1448684682,"variant_haplotypes":"rs4803419","gene":"CYP2B6","drugs":"levonorgestrel","pmid":28187506,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in patients treated with levonorgestrel implant plus efavirenz. The authors hypothesize that the high EFV plasma concentrations associated with these SNPs may result in greater EFV induction of CYP3A4, resulting in increased LNG metabolism and lower LNG exposure in the patients who were heterozygous or homozygous for CYP2B6 516G>T or CYP2B6 15582C>T.","sentence":"Genotype CT is associated with decreased concentrations of levonorgestrel in women with HIV Infections as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3611944","article_title":"Pharmacogenetic association with early response to intravitreal ranibizumab for age-related macular degeneration in a Korean population","article_path":"articles/PMC3611944.md","variant_annotation_id":1183682034,"variant_haplotypes":"rs1061170","gene":"CFH","drugs":"ranibizumab","pmid":23559864,"phenotype_category":"Efficacy","significance":"no","notes":"Age-related macular degeneration. No significant differences in best-corrected visual acuity (BCVA) changes or central subfield macular thickness (CSMT) changes were seen between baseline and 3 or 6 months of treatment between any of the genotypes.","sentence":"Allele C is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5249113","article_title":"Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis","article_path":"articles/PMC5249113.md","variant_annotation_id":1448995977,"variant_haplotypes":"rs7234029","gene":"PTPN2","drugs":"etanercept","pmid":28107378,"phenotype_category":"Efficacy","significance":"no","notes":"No significant associations were seen at either six months or two years after the beginning of treatment when response was measured as number of patients in remission or with low disease activity or by EULAR score.","sentence":"Allele G is not associated with response to etanercept in people with Arthritis, Rheumatoid as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5598801","article_title":"Effect of UDP-Glucuronosyltransferase (UGT) 1A Polymorphism (rs8330 and rs10929303) on Glucuronidation Status of Acetaminophen","article_path":"articles/PMC5598801.md","variant_annotation_id":1451343760,"variant_haplotypes":"rs10929303","gene":"MROH2A, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9","drugs":"acetaminophen glucuronide","pmid":28932176,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Authors describe variant as 1813C>T with C as major allele. Complemented here. Authors do not measure significance rather calculate the k value of concordance between genotype and speed of glucuronidation : homozygote reference = fast, heterozygote = intermediate and homozygote minor allele = slow.","sentence":"Genotype CC is associated with increased formation of acetaminophen glucuronide in healthy individuals as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"formation of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5903239","article_title":"Developmental pharmacogenetics of CYP2C19 in neonates and young infants: omeprazole as a probe drug","article_path":"articles/PMC5903239.md","variant_annotation_id":1449166259,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"omeprazole","pmid":29377228,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Population pharmacokinetic modeling; authors compared clearance of metabolite (M1) of omeprazole with extensive and ultra-rapid metabolizers. CL in poor and intermediate metabolizers (*1/*2 + *2/*2) was 12.5% and 44.9% that of extensive and ultra-rapid metabolizers (*1/*1 + *1/*17)","sentence":"CYP2C19 *2 is associated with decreased clearance of omeprazole in infants with Gastroesophageal Reflux as compared to CYP2C19 *1 + *17.","alleles":"*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in infants with","population_phenotypes_or_diseases":"Disease:Gastroesophageal Reflux","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *17","comparison_metabolizer_types":null} +{"pmcid":"PMC5425333","article_title":"Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta\u2010Analysis","article_path":"articles/PMC5425333.md","variant_annotation_id":1448631760,"variant_haplotypes":"rs316019","gene":"SLC22A2","drugs":"metformin","pmid":27859023,"phenotype_category":"Efficacy","significance":"no","notes":"This variant is not associated with metformin glycemic response assessed as HbA1c reduction in patients on metformin monotherapy.","sentence":"Allele A is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438840,"variant_haplotypes":"rs73151902","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 5.0E-9.","sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162725,"variant_haplotypes":"rs1800872","gene":"IL10","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. Authors described association as suggestive in the EA population but it did not survive multiple testing correction. Direction of effect not stated.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6248022","article_title":"A Low Fixed Tacrolimus Starting Dose Is Effective and Safe in Chinese Renal Transplantation Recipients","article_path":"articles/PMC6248022.md","variant_annotation_id":1449749453,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":29735966,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Day 7 post-transplant. Additionally, there were significantly more underexposed patients (C0 <5 ng/mL) who had the *1/*1 or *1/*3 genotype, and more overexposed patients (C0 >8 ng/mL) who had the *3/*3 genotype (p=0.045). CYP3A5 genotype was also independently associated with C0 in multivariate logistic regression analysis (p<0.001).","sentence":"CYP3A5 *3/*3 is associated with increased trough concentration of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC9373641","article_title":"The effect of alpha-2A adrenergic receptor (ADRA2A) genetic polymorphisms on the depth of sedation of dexmedetomidine: a genetic observational pilot study","article_path":"articles/PMC9373641.md","variant_annotation_id":1451445125,"variant_haplotypes":"rs3750625","gene":"ADRA2A","drugs":"dexmedetomidine","pmid":33915198,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of dexmedetomidine in men as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983254,"variant_haplotypes":"rs2831440","gene":null,"drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here (T). Remission considered to be score < or equal to 7 at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele T is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3248257","article_title":"The population pharmacokinetics of R- and S-warfarin: effect of genetic and clinical factors","article_path":"articles/PMC3248257.md","variant_annotation_id":827863698,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":21692828,"phenotype_category":"Other, Metabolism/PK","significance":"not stated","notes":"For S-Warfarin in a model that included bodyweight, age and sex.","sentence":"CYP2C9 *2 is associated with decreased clearance of warfarin as compared to CYP2C9 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC8458697","article_title":"Influence of CYP2D6 and CYP3A5 Polymorphisms on the Pharmacokinetics and Pharmacodynamics of Bisoprolol in Hypertensive Chinese Patients","article_path":"articles/PMC8458697.md","variant_annotation_id":1451535546,"variant_haplotypes":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2D6","drugs":"bisoprolol","pmid":34568359,"phenotype_category":"Efficacy","significance":"no","notes":"CYP2D6 [*10 (100C>T, rs1065852), *4 (1934G>A, rs3892097, 1846G>A/T, rs5030865), *2 (2938C>T, rs16947, 4268G>C, rs1135840) and *5, deletion] and the CYP3A5*3 (rs776746, 6986G>A) polymorphism were selected in this study. There was no significant change in bisoprolol concentrations nor various blood pressure measurements due to CYP2D6 genotype categories.","sentence":"CYP2D6 intermediate metabolizer and poor metabolizer is not associated with response to bisoprolol in people with Hypertension as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4609097","article_title":"Ivacaftor in a young boy with the rare gating mutation S549R - use of lung clearance index to track progress: a case report","article_path":"articles/PMC4609097.md","variant_annotation_id":1449192458,"variant_haplotypes":"rs121908757","gene":"CFTR","drugs":"ivacaftor","pmid":26474553,"phenotype_category":"Efficacy","significance":"not stated","notes":"Case report of a pediatric cystic fibrosis patient (genotype S549R/1717-1G>A) being treated with ivacaftor. Improvements in body weight, cough frequency, sputum production, physical performance, sweat chloride level and FEV1 were reported following six weeks of treatment. Paper does not state if rs121908757 or rs121909005 is the causative variant of S549R.","sentence":"Allele C is associated with response to ivacaftor in children with Cystic Fibrosis.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3946972","article_title":"Pharmacotherapy Effects on Smoking Cessation Vary with Nicotine Metabolism Gene (CYP2A6)","article_path":"articles/PMC3946972.md","variant_annotation_id":1450820529,"variant_haplotypes":"CYP2A6 high activity","gene":"CYP2A6","drugs":"nicotine","pmid":24033696,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with a predicted CYP2A6 \"fast metabolizer\" phenotype were less likely to relapse from smoking cessation when treated with nicotine replacement therapy as compared to CYP2A6 \"slow metabolizers\".","sentence":"CYP2A6 high activity is associated with increased response to nicotine in people with Tobacco Use Disorder as compared to CYP2A6 low activity.","alleles":null,"specialty_population":null,"metabolizer_types":"high activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"low activity"} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438549,"variant_haplotypes":"rs3745274","gene":"CYP2A7P1, CYP2B6","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 3.3E-3.","sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755954,"variant_haplotypes":"rs2444933","gene":"POU2F2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3038469","article_title":"Genetic and nongenetic factors associated with warfarin dose requirements in Egyptian patients","article_path":"articles/PMC3038469.md","variant_annotation_id":827864546,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"warfarin","pmid":21228733,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP defines CYP2C9*2. CYP2C9 *2,*3,*4,*5,*8 were grouped into three groups for testing: *1/*1 vs. *1/*2 + *1/*3 + *1/*4 + *1/*5 + *1/*8 vs *2/*2 + *2/*3 + *3/*3 + *5/*5. People having one or two variant alleles had lower dose requirements than people who were *1/*1.","sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC9328121","article_title":"Analysis of Genetic and Clinical Factors Associated with Buprenorphine Response","article_path":"articles/PMC9328121.md","variant_annotation_id":1451647605,"variant_haplotypes":"rs756770","gene":"ADAMTSL2","drugs":"buprenorphine","pmid":34488071,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors note that this association is nominally significant.","sentence":"Allele A is associated with increased response to buprenorphine in people with Opioid-Related Disorders as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3597465","article_title":"COMT Val158Met, BDNF Val66Met, and OPRM1 Asn40Asp and Methamphetamine Dependence Treatment Response: Preliminary Investigation","article_path":"articles/PMC3597465.md","variant_annotation_id":1450813976,"variant_haplotypes":"rs6265","gene":"BDNF","drugs":"modafinil","pmid":22217949,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and Treatment Effectiveness Scores following modafinil treatment compared to placebo.","sentence":"Allele C is not associated with response to modafinil in people with methamphetamine dependence as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Methamphetamine dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3481266","article_title":"Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Potentiator VX-770 (Ivacaftor) Opens the Defective Channel Gate of Mutant CFTR in a Phosphorylation-dependent but ATP-independent Manner","article_path":"articles/PMC3481266.md","variant_annotation_id":981755766,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor","pmid":22942289,"phenotype_category":"Efficacy","significance":"not stated","notes":"In vitro studies using proteoliposomes containing CFTR, or CFTR with the G551D mutation (rs75527207 allele A), or CFTR with the F508del mutation (rs113993960 allele del). Ivacaftor in the presence of ATP potentiated channel activity of CFTR-F508del.","sentence":"Allele del is associated with increased response to ivacaftor.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3553682","article_title":"Impact of Pharmacogenetic Markers of CYP2B6, Clinical Factors, and Drug-Drug Interaction on Efavirenz Concentrations in HIV/Tuberculosis-Coinfected Patients","article_path":"articles/PMC3553682.md","variant_annotation_id":1183491475,"variant_haplotypes":"CYP2B6*1","gene":"CYP2B6","drugs":"efavirenz","pmid":23254426,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"*1/*1 is associated with low plasma efavirenz concentrations (units = mg/L), as shown through multivariate analysis. Fasting plasma efavirenz concentrations were measured 12 hours after the last dose, and after 12 weeks of treatment.","sentence":"CYP2B6 *1/*1 is associated with increased clearance of efavirenz in people with HIV.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3175513","article_title":"Influence of genetic, biological and pharmacological factors on warfarin dose in a Southern Brazilian population of European ancestry","article_path":"articles/PMC3175513.md","variant_annotation_id":1184510322,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":21320153,"phenotype_category":"Dosage","significance":"yes","notes":"in a Southern Brazilian population of European ancestry.","sentence":"CYP2C9 *1/*2 + *1/*3 + *2/*2 + *2/*3 is associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*2 + *1/*3 + *2/*2 + *2/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC10967865","article_title":"Impact of Pharmacogenetic Testing on Clozapine Treatment Efficacy in Patients with Treatment-Resistant Schizophrenia","article_path":"articles/PMC10967865.md","variant_annotation_id":1452435362,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"clozapine, n-desmethylclozapine","pmid":38540209,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Our analysis showed that only when comparing the mean plasma levels of CLZ and NCLZ for 5-HTTLPR S allele carriers versus L allele carriers, a significant difference was obtained (370 vs. 445 ng/mL CLZ plasma levels p = 0.008; 232 vs. 263 ng/mL NCLZ plasma levels p = 0.049). The S allele carriers showed the lowest CLZ and NCLZ plasma levels versus L allele carriers.\"","sentence":"SLC6A4 HTTLPR short form (S allele) is associated with decreased concentrations of clozapine and n-desmethylclozapine in people with Schizophrenia as compared to SLC6A4 HTTLPR long form (L allele).","alleles":"HTTLPR short form (S allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR long form (L allele)","comparison_metabolizer_types":null} +{"pmcid":"PMC8940650","article_title":"Effect of CYP3A5 and CYP3A4 Genetic Variants on Fentanyl Pharmacokinetics in a Pediatric Population","article_path":"articles/PMC8940650.md","variant_annotation_id":1451678340,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"fentanyl","pmid":34877660,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with clearance of fentanyl in children as compared to allele A (assigned as normal metabolizer phenotype) .","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5808057","article_title":"No major role of norepinephrine transporter gene variations in the cardiostimulant effects of MDMA","article_path":"articles/PMC5808057.md","variant_annotation_id":1449160218,"variant_haplotypes":"rs1861647","gene":"SLC6A2","drugs":"3,4-methylenedioxymethamphetamine","pmid":29198060,"phenotype_category":"Other","significance":"yes","notes":"The GG genotype was associated with increased heart rate, but not with plasma concentrations nor mean arterial pressure.","sentence":"Genotype GG is associated with increased response to 3,4-methylenedioxymethamphetamine as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679530,"variant_haplotypes":"CYP2C19*1","gene":"CYP2C19","drugs":"rabeprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"no","notes":"as compared to the *1/*2 or *1/*3 genotype, or the *2/*2, *2/*3 or *3/*3 genotype. No significant differences in eradication rate of Helicobacter pylori (H. pylori) were seen between any of the genotype groups.This was a meta-analysis and included 13 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received the antibiotics amoxicillin and clarithromycin or amoxicillin and metronidazole as part of triple therapy.","sentence":"CYP2C19 *1/*1 is not associated with response to rabeprazole in people with Helicobacter Infections.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6479273","article_title":"CYP2C9*61, a rare missense variant identified in a Puerto Rican patient with low warfarin dose requirements","article_path":"articles/PMC6479273.md","variant_annotation_id":1450180271,"variant_haplotypes":"rs202201137","gene":"CYP2C9","drugs":"warfarin","pmid":30518301,"phenotype_category":"Dosage","significance":"no","notes":"in a single individual who also had \"factors like the advanced age of the patient, liver function, co-morbidities, drug-to-drug interactions and the presence of other polymorphisms (CYP2C9*2 and CYP2C9*5) \"","sentence":"Allele G is associated with decreased dose of warfarin.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6493375","article_title":"ABCC2 Polymorphisms and Haplotype are Associated with Drug Resistance in Chinese Epileptic Patients","article_path":"articles/PMC6493375.md","variant_annotation_id":827921746,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"antiepileptics","pmid":22630058,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP was also part of haplotype associated with response/resistance.","sentence":"Genotypes CT + TT are associated with increased resistance to antiepileptics in people with Epilepsy as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491287,"variant_haplotypes":"rs12655684","gene":"SV2C","drugs":"ziprasidone","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype CC is not associated with response to ziprasidone in people with Schizophrenia as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4324232","article_title":"Subgroup Differences in Response to 8 Weeks of Ledipasvir/Sofosbuvir for Chronic Hepatitis C","article_path":"articles/PMC4324232.md","variant_annotation_id":1444870968,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"ledipasvir, sofosbuvir","pmid":25734178,"phenotype_category":"Efficacy","significance":"yes","notes":"in HCV genotype 1 patients. Patients with the CC genotype have higher SVR rates than patients with the TT genotype. The SVR rate was 98.9% in women and 98.2% in individuals with the rs12979860-CC genotype, 95.1% in patients with the CT genotype and 90.9% in TT genotype patients. Black patients had a lower SVR rate than individuals of other racial groups; however, that association did not reach statistical significance (P= 0.08)","sentence":"Genotype CC is associated with increased response to ledipasvir and sofosbuvir in people with Hepatitis C as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2760462","article_title":"Atazanavir pharmacokinetics in genetically determined CYP3A5 expressors versus non-expressors","article_path":"articles/PMC2760462.md","variant_annotation_id":1450984448,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"atazanavir","pmid":19710077,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"For the haplotype \"1236C/2677G/3435C\" \"subjects with zero CGC copies had faster atazanavir CL/F and lower Cmin compared with individuals with one or two CGC copies\" (complemented to plus chromosomal strand). In this two-phase study, healthy participants were given atazanavir only for 7 days and then were co-administered ritonavir as a booster for days 8-14. The results here are for day 1-7 (atazanavir alone). By the end of day 7 oral clearance of atazanavir was 0.25, 0.18, 0.17 L/h/kg in people with 0, 1 or 2 copies of the haplotype, respectively. Cmin was 66, 159 and 209 ng/mL in people with 0,1 or 2 copies, respectively.","sentence":"Genotype AA is associated with increased clearance of atazanavir in healthy individuals as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC1874463","article_title":"Genetic polymorphisms in human CYP2A6 gene causing impaired nicotine metabolism","article_path":"articles/PMC1874463.md","variant_annotation_id":769278041,"variant_haplotypes":"rs5031016","gene":"CYP2A6","drugs":"nicotine","pmid":12445030,"phenotype_category":"Other, Metabolism/PK","significance":"no","notes":"This is a SNP within the CYP2A6*7 or *10 allele. Individuals with these alleles or *4 had impaired nicotine metabolism in this study. Statistics were comparing metabolism levels in Japanese and Korean subjects, rather than these alleles compared to wildtype.","sentence":"Allele G is associated with decreased metabolism of nicotine as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC1884506","article_title":"Effects of various factors on steady-state plasma concentrations of risperidone and 9-hydroxyrisperidone: lack of impact of MDR-1 genotypes","article_path":"articles/PMC1884506.md","variant_annotation_id":1183620362,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"risperidone","pmid":15089809,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association was seen between this SNP and metabolism of risperidone.","sentence":"Allele C is not associated with increased metabolism of risperidone in people with Schizophrenia as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703589,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AA or AG genotype had a decreased likelihood of achieving complete molecular response (CMR) within 12 months, as compared to those with the GG genotype. CMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; CMR was a ratio <= 0.0032%. Please note that alleles have been complemented to the plus chromosomal strand, and that this SNP was listed as rs60023214.","sentence":"Genotypes AA + AG is associated with decreased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11943653","article_title":"CYP2D6 Genotyping for Optimization of Tamoxifen Therapy in Indonesian Women with ER+ Breast Cancer","article_path":"articles/PMC11943653.md","variant_annotation_id":1453085402,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*10, CYP2D6*36","gene":"CYP2D6","drugs":"tamoxifen","pmid":40137409,"phenotype_category":"Dosage","significance":"not stated","notes":"\" The statistical analysis at baseline showed that the endoxifen level of the PMs-IMs was significantly lower than NM (p < 0.001).\" \"A follow-up consultation was individually scheduled for each participant to inform treatment adjustment, where relevant. There were 83 NMs who were advised to continue taking the standard dose of 20 mg daily. Meanwhile, there were 65 IMs and 2 PMs who were given a recommendation to adjust their tamoxifen dose to 40 mg daily. However, a total of 17 IMs and 2 PMs were deemed clinically unfit for tamoxifen dosage increase and recommended to switch to aromatase inhibitor. Individuals switching to aromatase inhibitors were not followed up further for assessment of metabolite levels changes, side effect monitoring, and survival analysis as tamoxifen is this study\u2019s drug of interest. \"","sentence":"CYP2D6 *10/*36 (assigned as intermediate metabolizer phenotype) is associated with increased dose of tamoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*36 + *2/*10 + *1/*1 + *2/*36 + *1/*10 + *10/*10 (assigned as normal metabolizer phenotype) .","alleles":"*10/*36","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*36 + *2/*10 + *1/*1 + *2/*36 + *1/*10 + *10/*10","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4862932","article_title":"Single Dose, CYP2D6 Genotype-Stratified Pharmacokinetic Study of Atomoxetine in Children with ADHD","article_path":"articles/PMC4862932.md","variant_annotation_id":1447943783,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4, CYP2D6*4xN, CYP2D6*5, CYP2D6*9, CYP2D6*10, CYP2D6*17, CYP2D6*29, CYP2D6*41","gene":"CYP2D6","drugs":"atomoxetine","pmid":26660002,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"single dose study with an average of 0.43 mg/kg. Children received either a single dose of 10, 18, 25, 30 or 40 mg atomoxetine depending on body weight. Cmax of 4 hydroxy atomoxetine was lower in PM (two no function alleles) as compared to EM (one or two functional alleles) (p<0.002 or p<0.001) but not significantly different to IM (one reduced and one no function allele).","sentence":"CYP2D6 *4/*4xN + *4/*4 are associated with increased concentrations of atomoxetine in children with Attention Deficit Disorder with Hyperactivity as compared to CYP2D6 *1/*1 + *1/ *2 + *2/*4 + *1/*4 + *1/*3 + *2/*5 + *10/*41 + *9/*29 + *5/*17 + *4/*9.","alleles":"*4/*4xN + *4/*4","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/ *2 + *2/*4 + *1/*4 + *1/*3 + *2/*5 + *10/*41 + *9/*29 + *5/*17 + *4/*9","comparison_metabolizer_types":null} +{"pmcid":"PMC2743299","article_title":"GENE AND GENE BY SEX ASSOCIATIONS WITH INITIAL SENSITIVITY TO NICOTINE IN NONSMOKERS","article_path":"articles/PMC2743299.md","variant_annotation_id":1450812294,"variant_haplotypes":"rs1800497","gene":"ANKK1, DRD2","drugs":"nicotine","pmid":18690117,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. No significant association between this variant and nicotine reward, perception, mood or reinforcement or physiological responses to nicotine.","sentence":"Allele A is not associated with response to nicotine in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2766479","article_title":"Influence of ABCB1 gene polymorphisms on the pharmacokinetics of verapamil among healthy Chinese Han ethnic subjects","article_path":"articles/PMC2766479.md","variant_annotation_id":982036220,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"verapamil","pmid":19740397,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the CC genotype had lower oral clearance and higher AUC than patients with the AA or AC genotype. This SNP was studied together with rs1045642. Subjects were non-randomly chosen in order to study patients homozygous for the wildtype at both SNPs, heterozygous for both SNPs, and homozygous for the variant at both SNPs.","sentence":"Genotype CC is associated with decreased metabolism of verapamil in healthy individuals as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678320,"variant_haplotypes":"rs2298771","gene":"SCN1A","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was no association between dose (mean daily, or mean maintenance) with the genotype. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype CC is not associated with dose of carbamazepine in people with Epilepsy as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6071997","article_title":"Germline single nucleotide polymorphisms in ERBB3 and BARD1 genes result in a worse relapse free survival response for HER2-positive breast cancer patients treated with adjuvant based docetaxel, carboplatin and trastuzumab (TCH)","article_path":"articles/PMC6071997.md","variant_annotation_id":1449713618,"variant_haplotypes":"rs773123","gene":"ERBB3","drugs":"carboplatin, docetaxel, trastuzumab","pmid":30071039,"phenotype_category":"Efficacy","significance":"yes","notes":"When compared to women who received different treatment regimens. Response was defined as likelihood of achieving relapse-free survival.","sentence":"Allele A is associated with decreased response to carboplatin, docetaxel and trastuzumab in women with Breast Neoplasms.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981794132,"variant_haplotypes":"rs1060896","gene":"SLC28A2","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Tumor response to therapy, progression free survival, and risk of neutropenia development did not significantly differ between genotype groups.","sentence":"Genotype AA is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4618180","article_title":"Response to treatment following recently acquired hepatitis C virus infection in a multi-centre collaborative cohort","article_path":"articles/PMC4618180.md","variant_annotation_id":1444843635,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":26098993,"phenotype_category":"Efficacy","significance":"no","notes":"in HCV genotype 2/3 infected patients.","sentence":"Genotype CC is not associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5098919","article_title":"Association of Cytochrome P450 Genetic Variants with Clopidogrel Resistance and Outcomes in Acute Ischemic Stroke","article_path":"articles/PMC5098919.md","variant_annotation_id":1447949757,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"clopidogrel","pmid":26961113,"phenotype_category":"Efficacy","significance":"yes","notes":"Frequency of CYP2C19*2 (rs4244285) AA/AG genotypes was significantly higher in clopidogrel-resistant patients than in clopidogrel-sensitive patients.","sentence":"CYP2C19 *1/*2 + *2/*2 are associated with increased resistance to clopidogrel in people with Stroke as compared to CYP2C19 *1/*1.","alleles":"*1/*2 + *2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Stroke","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2515139","article_title":"A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose","article_path":"articles/PMC2515139.md","variant_annotation_id":982032947,"variant_haplotypes":"rs4917639","gene":"CYP2C9","drugs":"warfarin","pmid":18535201,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele C is associated with decreased dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC1995596","article_title":"Exploring joint effects of genes and the clinical efficacy of morphine for cancer pain: OPRM1 and COMT gene","article_path":"articles/PMC1995596.md","variant_annotation_id":731493498,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"morphine","pmid":17156920,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AG + GG are associated with increased dose of morphine as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC8890732","article_title":"Effects of cytochrome P450 2B6 and constitutive androstane receptor genetic variation on Efavirenz plasma concentrations among HIV patients in Kenya","article_path":"articles/PMC8890732.md","variant_annotation_id":1451707041,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"efavirenz","pmid":35235559,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Described as 983T>C","sentence":"Allele C is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC7039663","article_title":"Pharmacogenetics predictors of methylphenidate efficacy in childhood ADHD","article_path":"articles/PMC7039663.md","variant_annotation_id":1450180222,"variant_haplotypes":"rs5569","gene":"SLC6A2","drugs":"methylphenidate","pmid":29230023,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotype GG is associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC10409991","article_title":"Effects of CYP3A4*22 polymorphism on trough concentration of tacrolimus in kidney transplantation: a systematic review and meta-analysis","article_path":"articles/PMC10409991.md","variant_annotation_id":1452207120,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":37564175,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Therefore, the significant effect of CYP3A4*22 on C0/D and the dose requirement of Tac remained evident even after adjusting for CYP3A5*3.\"","sentence":"CYP3A4 *1/*22 + *22/*22 is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1/*1.","alleles":"*1/*22 + *22/*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811690,"variant_haplotypes":"rs524731","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele was associated with increased scores in the dizzy, drunk, high and terrible traits on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele A is associated with increased response to ethanol as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3579261","article_title":"Population pharmacokinetics of unbound mycophenolic acid in adult allogeneic haematopoietic cell transplantation: effect of pharmacogenetic factors","article_path":"articles/PMC3579261.md","variant_annotation_id":1448107164,"variant_haplotypes":"rs6714486","gene":"UGT1A9","drugs":"mycophenolic acid","pmid":22765258,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotype AA is not associated with any pharmacokinetic parameters measured in the study when exposed to mycophenolic acid as compared to genotype TT.","sentence":"Genotype AA is not associated with metabolism of mycophenolic acid as compared to genotype TT.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491171,"variant_haplotypes":"rs11960832","gene":"SV2C","drugs":"olanzapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"yes","notes":"Response was assessed by a change in the total Positive and Negative Syndrome Scale (PANSS) score. TT homozygotes had a smaller decrease or an increase in PANSS score compared to C allele carriers.","sentence":"Genotype TT is associated with decreased response to olanzapine in people with Schizophrenia as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5508045","article_title":"The impact of non-genetic and genetic factors on a stable warfarin dose in Thai patients","article_path":"articles/PMC5508045.md","variant_annotation_id":1448624178,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":28550460,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype TT is associated with increased dose of warfarin in people with Atrial Fibrillation, heart valve replacement, Hypertension, Pulmonary, Pulmonary Embolism and Venous Thrombosis as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation, Disease:Heart valve replacement, Disease:Pulmonary Hypertension, Disease:Pulmonary Embolism, Disease:Venous Thrombosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4412845","article_title":"Population pharmacogenetic-based pharmacokinetic modeling of efavirenz, 7-hydroxy- and 8-hydroxyefavirenz","article_path":"articles/PMC4412845.md","variant_annotation_id":1184165591,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":24142869,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The total clearance of efavirenz was ~30% lower in those with the *6/*6 genotype as compared to those with the *1/*1 or *1/*6 genotype. Population pharmacokinetic modeling.","sentence":"CYP2B6 *6/*6 is associated with decreased clearance of efavirenz in healthy individuals as compared to CYP2B6 *1/*1 + *1/*6.","alleles":"*6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*6","comparison_metabolizer_types":null} +{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":982046680,"variant_haplotypes":"rs510317","gene":"F7","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"Daily dose of phenprocoumon is not significantly associated with this SNP. Daily dose is negatively correlated with age. This study published an algorithm for daily dose that includes height, although height was not significant in univariate analysis. This SNP is also not significantly associated with phenprocoumon concentration.","sentence":"Genotype GG is not associated with increased dose of phenprocoumon as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC6654446","article_title":"Gender\u2010specific association between preproendothelin\u20101 genotype and reduction of systolic blood pressure during antihypertensive treatment\u2010\u2010\u2010results from the Swedish irbesartan left ventricular hypertrophy investigation versus atenolol (SILVHIA)","article_path":"articles/PMC6654446.md","variant_annotation_id":982043114,"variant_haplotypes":"rs5370","gene":"EDN1","drugs":"atenolol, irbesartan","pmid":15188945,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in diastolic blood pressure (DBP) between genotypes was seen, between baseline and 12 weeks. p-value was adjusted for age, dose, and systolic blood pressure, DBP, and left ventricular mass index (LVMI) at baseline.","sentence":"Genotype GT is not associated with response to atenolol and irbesartan in men with Essential hypertension as compared to genotype GG.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in men with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2754599","article_title":"CYP2B6 Variants and Plasma Efavirenz Concentrations during Antiretroviral Therapy in Port-au-Prince, Haiti","article_path":"articles/PMC2754599.md","variant_annotation_id":1184471312,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":19659438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As determined by significantly higher efavirenz plasma levels. Significant after Bonferroni correction for multiple comparisons.","sentence":"Genotype TT (assigned as poor metabolizer phenotype) is associated with decreased metabolism of efavirenz in people with HIV Infections as compared to genotype GG (assigned as normal metabolizer phenotype) .","alleles":"TT","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038045,"variant_haplotypes":"rs5092","gene":"APOA4","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3901533","article_title":"A PHARMACOGENETIC STUDY OF ALDEHYDE OXIDASE I IN PATIENTS TREATED WITH XK469","article_path":"articles/PMC3901533.md","variant_annotation_id":1183699628,"variant_haplotypes":"rs10931910","gene":"AOX1","drugs":"XK469","pmid":24300566,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in patients with solid tumors","sentence":"Allele G is associated with decreased clearance of XK469 in people with Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4938133","article_title":"5-HTR1A and 5-HTR2A genetic polymorphisms and SSRI antidepressant response in depressive Chinese patients","article_path":"articles/PMC4938133.md","variant_annotation_id":1452039908,"variant_haplotypes":"rs17289304","gene":"HTR2A","drugs":"citalopram, fluoxetine, paroxetine, sertraline","pmid":27445478,"phenotype_category":"Efficacy","significance":"no","notes":"Response/remission measured using HAMD.","sentence":"Allele T is not associated with response to citalopram, fluoxetine, paroxetine or sertraline in people with Depressive Disorder, Major as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3786668","article_title":"Human Polymorphisms in the Glutathione Transferase Zeta 1/Maleylacetoacetate Isomerase Gene Influence the Toxicokinetics of Dichloroacetate","article_path":"articles/PMC3786668.md","variant_annotation_id":827786955,"variant_haplotypes":"rs7975","gene":"GSTZ1, POMT2","drugs":"dichloroacetic acid","pmid":21642471,"phenotype_category":"Other, Metabolism/PK","significance":"yes","notes":"The statement above is meant for a haplotype rather than for the allele. For the various possible haplotype combinations involving rs7975,rs7972,rs1046428, the most rapid clearance was observed for subjects having at least one \"wild-type\" allele (G for rs7975,G for rs7972, C for rs1046428. Rate was 2.2 +/- 0.7 vs 0.73 +/- 0.84 mL/min, and the very highest rate was seen in homozygous \"wild-type\".","sentence":"Allele G is associated with increased clearance of dichloroacetic acid in healthy individuals.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375552,"variant_haplotypes":"rs1934341","gene":"GREM2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment. This SNP is in strong LD with rs77567654.","sentence":"Allele T is associated with increased response to allopurinol.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4257570","article_title":"Population Pharmacokinetic Meta-Analysis of Vortioxetine in Healthy Individuals","article_path":"articles/PMC4257570.md","variant_annotation_id":1444665867,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"vortioxetine","pmid":24766668,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"CYP2D6-inferred metabolic status was shown to have a significant impact on CL/F, where extensive metabolizers in general had 1.9 times the CL/F of poor metabolizers. The mean group CL/F values for the four different categories of CYP2D6-inferred metabolic status were 53 L/hr (UM), 34 L/hr (EM), 27 L/hr (IM) and 18 L/hr (PM). Please note, no specific alleles or genotypes for CYP2D6 were reported. The article stated the following categorization of CYP2D6 phenotypes: 'Alleles with full functionality were assigned a gene dose of 1 and alleles with reduced functionality a value of 0.5, while alleles with no functionality were assigned a value of zero. If the sum of the gene dose for the alleles was zero, the inferred metabolic status was categorized as poor metabolizer (PM), if the sum was 0.5 or 1, the category was intermediate metabolizer (IM), if the sum was 1.5 or 2, the category was extensive metabolizer (EM) and for a sum over 2, the category was set to ultra metabolizer (UM)'.","sentence":"CYP2D6 poor metabolizer is associated with decreased clearance of vortioxetine in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4243881","article_title":"Effect of UGT1A1, UGT1A3, DIO1 and DIO2 polymorphisms on L-thyroxine doses required for TSH suppression in patients with differentiated thyroid cancer","article_path":"articles/PMC4243881.md","variant_annotation_id":1184990094,"variant_haplotypes":"rs12885300","gene":"DIO2","drugs":"levothyroxine","pmid":24910925,"phenotype_category":"Dosage","significance":"no","notes":"This SNP was not associated with dose in univariate regression.","sentence":"Allele T is not associated with dose of levothyroxine in people with Thyroid Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Thyroid tumor","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3779247","article_title":"Influence of Vitamin D-Related Gene Polymorphisms (CYP27B and VDR) on the Response to Interferon/Ribavirin Therapy in Chronic Hepatitis C","article_path":"articles/PMC3779247.md","variant_annotation_id":1444706639,"variant_haplotypes":"rs10877012","gene":"CYP27B1","drugs":"peginterferon alfa-2b, ribavirin","pmid":24073221,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype is not significantly associated with sustained virological response (SVR).","sentence":"Allele T is not associated with response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755946,"variant_haplotypes":"rs3823036","gene":"POU2F2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5323433","article_title":"Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer","article_path":"articles/PMC5323433.md","variant_annotation_id":1448495164,"variant_haplotypes":"rs2606345","gene":"CYP1A1","drugs":"exemestane","pmid":27549341,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in exemestane concentrations were seen between the three genotypes.","sentence":"Genotypes AA + AC are not associated with concentrations of exemestane in women with Breast Neoplasms as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755999,"variant_haplotypes":"rs172731","gene":"TMEM205","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4304713","article_title":"Prediction Formulas for Individual Opioid Analgesic Requirements Based on Genetic Polymorphism Analyses","article_path":"articles/PMC4304713.md","variant_annotation_id":1444693992,"variant_haplotypes":"rs9384179","gene":"OPRM1","drugs":"fentanyl","pmid":25615449,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"A formula was developed to predict individual opioid use during the first 24-h post-operative period for patients who underwent craniofacial surgery. The post-operative period R squared values were higher when genotype information was included. In the first group fentanyl was administered by IV, on demand, with a bolus dose of 20 micrograms and a 10 minute lockout period 24-h post-op.","sentence":"Genotype AA is associated with increased dose of fentanyl in people with Pain, Postoperative as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Side Effect:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC7351433","article_title":"Polymorphisms within methotrexate pathway genes: Relationship between plasma methotrexate levels, toxicity experienced and outcome in pediatric acute lymphoblastic leukemia","article_path":"articles/PMC7351433.md","variant_annotation_id":1451553338,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"methotrexate","pmid":32695297,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. Patients with the AG genotype did not have significantly different methotrexate plasma levels compared to those with the GG genotype.","sentence":"Genotype AA is associated with increased concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4199712","article_title":"Effects of Cytochrome P450 2C19 and Paraoxonase 1 Polymorphisms on Antiplatelet Response to Clopidogrel Therapy in Patients with Coronary Artery Disease","article_path":"articles/PMC4199712.md","variant_annotation_id":1184990042,"variant_haplotypes":"CYP2C19*1, CYP2C19*3","gene":"CYP2C19","drugs":"clopidogrel","pmid":25329996,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"CYP2C19 *3 is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to CYP2C19 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3164274","article_title":"UGT1A6 and UGT2B15 Polymorphisms and Acetaminophen Conjugation in Response to a Randomized, Controlled Diet of Select Fruits and Vegetables","article_path":"articles/PMC3164274.md","variant_annotation_id":1185000474,"variant_haplotypes":"UGT2B15*1, UGT2B15*2","gene":"UGT2B15","drugs":"acetaminophen","pmid":21666065,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Acetaminophen gluc/acetaminophen ratio decreased in a dose-dependent manner from *1/*1 subjects to *1/*2 and *2/*2 subjects. Please note UGT2B15 was genotyped with rs1902023.","sentence":"UGT2B15 *2 is associated with decreased metabolism of acetaminophen in healthy individuals as compared to UGT2B15 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3114195","article_title":"IL28B genetic variations are associated with high sustained virological response (SVR) of interferon-\u03b1 plus ribavirin therapy in Taiwanese chronic HCV infection","article_path":"articles/PMC3114195.md","variant_annotation_id":1444705484,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2b, ribavirin","pmid":21346780,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype has decreased association with sustained virological response (SVR).","sentence":"Genotypes CT + TT is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5427048","article_title":"The Pharmacogenetics of Tacrolimus in Corticosteroid-Sparse Pediatric and Adult Kidney Transplant Recipients","article_path":"articles/PMC5427048.md","variant_annotation_id":1448603998,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":28229376,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A4 *1/*1 is not associated with trough concentration of tacrolimus in children with Kidney Transplantation as compared to CYP3A4 *1/*22.","alleles":"*1/*1","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*22","comparison_metabolizer_types":null} +{"pmcid":"PMC3617060","article_title":"The ability of plasma cotinine to predict nicotine and carcinogen exposure is altered by differences in CYP2A6: the influence of genetics, race and sex","article_path":"articles/PMC3617060.md","variant_annotation_id":1452644929,"variant_haplotypes":"CYP2A6 low activity","gene":"CYP2A6","drugs":"cotinine","pmid":23371292,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in non-smokers. \"Reduced CYP2A6 activity altered cotinine formation less than cotinine removal resulting in ratios of formation to removal of 1.31 and 1.12 in CYP2A6 reduced and normal metabolizers (P = 0.01), or 1.39 and 1.12 in males and females (P = 0.001), suggesting an overestimation of tobacco exposure in slower metabolizers.\" Reduced metabolizers were defined as subjects with one or two copies of *2,*4, *7,*9,*10,*12,*17,*35.","sentence":"CYP2A6 low activity is associated with increased concentrations of cotinine as compared to CYP2A6 high activity.","alleles":null,"specialty_population":null,"metabolizer_types":"low activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"high activity"} +{"pmcid":"PMC6125540","article_title":"Is It Time for Systematic Voriconazole Pharmacogenomic Investigation for Central Nervous System Aspergillosis?","article_path":"articles/PMC6125540.md","variant_annotation_id":1449732339,"variant_haplotypes":"CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":29967027,"phenotype_category":"Efficacy","significance":"not stated","notes":"Case report. A 75-year-old woman developed central nervous system aspergillosis. She was treated with therapeutic drug monitoring-guided voriconazole therapy. Optimal trough concentrations were difficult to reach despite very high doses of voriconazole. The patient was then found to be homozygous for the CYP2C19*17 variant. Treatment was changed to isavuconazole. Four months after isavuconazole introduction, clinical outcome was favorable. Authors state that this CYP2C19 mutation was \"partially responsible for the therapeutic failure of voriconazole\".","sentence":"CYP2C19 *17/*17 is associated with decreased response to voriconazole in people with Mycoses.","alleles":"*17/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Mycoses","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3390407","article_title":"Genome-Wide Association Analysis in Asthma Subjects Identifies SPATS2L as a Novel Bronchodilator Response Gene","article_path":"articles/PMC3390407.md","variant_annotation_id":978639673,"variant_haplotypes":"rs295137","gene":"SPATS2L","drugs":"salbutamol","pmid":22792082,"phenotype_category":"Efficacy","significance":"no","notes":"Median Bronchodilator response was 16.0 (inter-quartile range [6.2, 32.4]) for TT, 10.9(inter-quartile range [4.1,21.7]) for CC + CT. Association did not reach significance after Bonferroni correction, but authors followed up on the association and found siRNA knockdown evidence for this being a valid result. [stat_test:linear regression].","sentence":"Genotype TT is associated with increased response to salbutamol in people with Asthma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703599,"variant_haplotypes":"rs11993031","gene":"CSMD1","drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in systolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele T is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2652833","article_title":"A Genome-Wide Association Study Confirms VKORC1, CYP2C9, and CYP4F2 as Principal Genetic Determinants of Warfarin Dose","article_path":"articles/PMC2652833.md","variant_annotation_id":637880240,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":19300499,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755911,"variant_haplotypes":"rs7204252","gene":"LRP1","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6142943","article_title":"Association of Genetic Variants With Response to Anti\u2013Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration","article_path":"articles/PMC6142943.md","variant_annotation_id":1449566942,"variant_haplotypes":"rs12138564","gene":"CCT3","drugs":"bevacizumab, ranibizumab","pmid":29852030,"phenotype_category":"Efficacy","significance":"no","notes":"GWAS in discovery and replication cohort the T allele was nominally associated with improved response (as assessed by improvements in visual acuity (VA)) but only nominally after multiple testing correction. The GT genotype was associated with greater improvement in VA as compared to the GG genotype (P = .008), but the TT was associated with the largest improvement in VA (P = .002).","sentence":"Allele T is associated with increased response to bevacizumab and ranibizumab in people with Macular Degeneration as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5734971","article_title":"Genetic Analysis of Mu and Kappa Opioid Receptor and COMT Enzyme in Cancer Pain Tunisian Patients Under Opioid Treatment","article_path":"articles/PMC5734971.md","variant_annotation_id":1449182334,"variant_haplotypes":"rs1799972","gene":"OPRM1","drugs":"morphine","pmid":29259946,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"No association was observed between this variant and a patient's initial dose requirement or their need to escalate their dose of morphine.","sentence":"Allele T is not associated with dose of morphine in people with Pain as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4982581","article_title":"Pharmacokinetic profiles of significant adverse events with crizotinib in Japanese patients with ABCB1 polymorphism","article_path":"articles/PMC4982581.md","variant_annotation_id":1450989160,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"crizotinib","pmid":27270784,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was only one individual who was AA at all three locations that define *2 (rs1128503, rs2032582 and rs1045642). Individuals who were AA at one location (n=3) also had slightly increased exposure compared to \"wild type or heterozygotes\" (n=4). Increased exposure was significantly associated with toxicity. (alleles complemented to plus chromosomal strand)","sentence":"Genotype AA is associated with increased exposure to crizotinib in people with.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3860742","article_title":"RRM1 and RRM2 pharmacogenetics: association with phenotypes in HapMap cell lines and acute myeloid leukemia patients","article_path":"articles/PMC3860742.md","variant_annotation_id":1183700199,"variant_haplotypes":"rs1042919","gene":"RRM1","drugs":"cladribine, cytarabine","pmid":24024897,"phenotype_category":"Efficacy","significance":"yes","notes":"The AT genotype was associated with lower intracellular cytarabine levels in leukemic blasts at day 1 and 2 of therapy, and poor event-free survival. Risk of relapse was not significantly different. No multiple testing adjustments were performed: 7 SNPs were investigated.","sentence":"Genotype AT is associated with decreased response to cladribine and cytarabine in children with Leukemia, Myeloid, Acute as compared to genotype AA.","alleles":"AT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3237821","article_title":"ASSOCIATIONS OF ABCB1 3435C>T AND IL-10 -1082G>A POLYMORPHISMS WITH LONG-TERM SIROLIMUS DOSE REQUIREMENTS IN RENAL TRANSPLANT PATIENTS","article_path":"articles/PMC3237821.md","variant_annotation_id":1448567921,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"sirolimus","pmid":22094953,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the AA or AG genotype had a 48% higher mean sirolimus log-transformed dose-adjusted trough concentrations (C/D) as compared to those with the GG genotype. Multivariate analysis. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AA + AG are associated with increased dose-adjusted trough concentrations of sirolimus in people with Kidney Transplantation as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6767327","article_title":"Enantiospecific Pharmacogenomics of Fluvastatin","article_path":"articles/PMC6767327.md","variant_annotation_id":1450823485,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"fluvastatin","pmid":30989645,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant is in complete LD with rs77760615. This variant is significantly associated with increased area under the plasma concentration-time curve (AUC) of both 3R,5S-fluvastatin and 3S,5R-fluvastatin and total fluvastatin.","sentence":"CYP2C9 *3 is associated with increased concentrations of fluvastatin in healthy individuals as compared to CYP2C9 *1/*1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446895972,"variant_haplotypes":"rs9328202","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% delta HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5817388","article_title":"Association of CTH variant with sinusoidal obstruction syndrome in children receiving intravenous busulfan and cyclophosphamide before hematopoietic stem cell transplantation","article_path":"articles/PMC5817388.md","variant_annotation_id":1448525501,"variant_haplotypes":"rs648743","gene":"CTH","drugs":"busulfan","pmid":27779248,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype TT is not associated with clearance of busulfan in children with Hematopoietic stem cell transplantation as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Hematopoietic stem cell transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163299,"variant_haplotypes":"rs2239393","gene":"COMT","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":827784991,"variant_haplotypes":"rs6438552","gene":"GSK3B","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"yes","notes":"This result is for the combination of GG at this SNP with rs2071427 TT. People with this genotype combination had a 75% chance of being in the Li-responsive group. People with rs2071427 CC/rs6438552 AA had a 44% response rate. Those with 2 or 3 favorable alleles had responses on a gradient between these two results.","sentence":"Genotype GG is associated with increased response to lithium in people with Bipolar Disorder.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC1087660","article_title":"Should We Use N-Acetyltransferase Type 2 Genotyping To Personalize Isoniazid Doses?","article_path":"articles/PMC1087660.md","variant_annotation_id":981848260,"variant_haplotypes":"NAT2*4","gene":"NAT2","drugs":"isoniazid","pmid":15855489,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"88% of overall variability in isoniazid clearance was accounted for by the number of NAT2*4 alleles.","sentence":"NAT2 *4 is associated with increased clearance of isoniazid in healthy individuals.","alleles":"*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5817390","article_title":"An integrated pharmacokinetic/pharmacogenomic analysis of ABCB1 and SLCO1B1 polymorphisms on edoxaban exposure","article_path":"articles/PMC5817390.md","variant_annotation_id":1448525865,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"edoxaban","pmid":27897269,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in total plasma exposure (AUCinf), peak plasma exposure (Cmax), trough concentrations (C24), plasma exposure from the time of dosing to the last measurable concentration (AUClast), or plasma exposure up to 24 hours after dosing (AUC0-24) were seen between the genotype groups. This indicates that this SNP \"does not influence edoxaban exposure\". However, the authors state that exposure to the M4 metabolite is elevated in individuals with the CC or CT genotype as compared to the TT genotype, though they do not provide any statistical information, and state that it does not increase exposure in \"a clinically meaningful way\".","sentence":"Genotypes CC + CT is not associated with exposure to edoxaban in healthy individuals as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC7883889","article_title":"A Delta-Opioid Receptor Gene Polymorphism Moderates the Therapeutic Response to Extended-Release Buprenorphine in Opioid Use Disorder","article_path":"articles/PMC7883889.md","variant_annotation_id":1451676000,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"buprenorphine","pmid":32920647,"phenotype_category":"Efficacy","significance":"yes","notes":"This was found in European Americans only. The opposite association was found in African Americans but was not statistically significant.","sentence":"Genotypes CT + TT are associated with increased response to buprenorphine in people with Opioid-Related Disorders as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3182303","article_title":"The Pharmacogenetics of NAT2 Enzyme Maturation in Perinatally HIV Exposed Infants Receiving Isoniazid","article_path":"articles/PMC3182303.md","variant_annotation_id":981476160,"variant_haplotypes":"NAT2*1, NAT2*4, NAT2*6, NAT2*7, NAT2*14, NAT2*16","gene":"NAT2","drugs":"isoniazid","pmid":21558457,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Fast acetylators (two fast alleles NAT2*4, *12, *13) (originally annotated as *4, *12A, *13A) were grouped together, compared to intermediate (one fast and one slow allele) and slow acetylators (two slow alleles NAT2*5, *6, *7, *14) (originally annotated as *5A, *6B, *7A, *14A) in an analysis of clearance of isoniazid in infants over time from 3 months old to 24 months (normalized for 70kg body weight). Fast acetylators displayed an increase in clearance over this time period, also seen in intermediate acetylators but in slow acetylators clearance remained constant over time.; The arylamine N-acetyltransferases (NATs) database was transitioned into the PharmVar database in March 2024. The alleles in included in this annotation are mapped as following: NAT2*12A under the *1 core allele; NAT2*13A under the *4 core allele; NAT2*14A under the *14 core allele; NAT2*5A under the *16 core allele; ; NAT2*6B under the *6 core allele; NAT2*7A under the *7 core allele.","sentence":"NAT2 *16 + *6 + *7 + *14 is associated with decreased clearance of isoniazid in children with HIV Infections as compared to NAT2 *4 + *1.","alleles":"*16 + *6 + *7 + *14","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*4 + *1","comparison_metabolizer_types":null} +{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757060,"variant_haplotypes":"rs3136516","gene":"F2","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele G is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3038469","article_title":"Genetic and nongenetic factors associated with warfarin dose requirements in Egyptian patients","article_path":"articles/PMC3038469.md","variant_annotation_id":827864552,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":21228733,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotypes CT + TT are associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC10478012","article_title":"Implementation of Clinical Cytochrome P450 3A Genotyping for Tacrolimus Dosing in a Large Kidney Transplant Program","article_path":"articles/PMC10478012.md","variant_annotation_id":1452074800,"variant_haplotypes":"CYP3A5 intermediate metabolizer and normal metabolizer","gene":"CYP3A5","drugs":"tacrolimus","pmid":37042314,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Study measured \"CYP3A5*3 (rs776746), CYP3A5*6 (rs10264272), CYP3A5*7 (rs41303343).and alleles were assigned metabolizer; categories according to CPIC guidelines. \" \"The time totherapeutic tacrolimus trough concentrations was 6.6 \u00b1 0.6 days for normal/intermediate; metabolizers and 3.6 \u00b1 0.3 days for poor metabolizers.\" \"The; percent of patient tacrolimus trough concentrations within the desired range was 33% for normal/intermediate metabolizers and 42% for poor metabolizers\"","sentence":"CYP3A5 normal metabolizer and intermediate metabolizer is associated with increased time to response to tacrolimus in people with Kidney Transplantation as compared to CYP3A5 poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer and intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"time to response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"poor metabolizer"} +{"pmcid":"PMC8571740","article_title":"Impact of CYP2D6 Pharmacogenomic Status on Pain Control Among Opioid\u2010Treated Oncology Patients","article_path":"articles/PMC8571740.md","variant_annotation_id":1451645100,"variant_haplotypes":"CYP2D6 poor metabolizers and intermediate metabolizers","gene":"CYP2D6","drugs":"codeine, fentanyl, hydrocodone, hydromorphone, methadone, morphine, oxycodone, tramadol","pmid":34423496,"phenotype_category":"Efficacy","significance":"yes","notes":"IM or PM patients were more likely to require a pain-related procedure or hospital encounter and had increased exposure to morphine or hydromorphone, presumably as a result of inadequate analgesia by CYP2D6-metabolized opioids. 93% of IM or PM patients received a CYP2D6-metabolized opioid (codeine, tramadol, oxycodone, hydrocodone). Patients with a CYP2D6 AS of 1 were assigned as NM rather than IM. Authors also considered phenoconversion and reduced AS accordingly in patients taking concomitant CYP2D6 inhibitors.","sentence":"CYP2D6 intermediate metabolizer and poor metabolizer are associated with decreased response to codeine, fentanyl, hydrocodone, hydromorphone, methadone, morphine, oxycodone or tramadol in people with Neoplasms and Pain as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms, Other:Pain","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3778124","article_title":"Variation in the Alpha 5 Nicotinic Acetylcholine Receptor Subunit Gene Predicts Cigarette Smoking Intensity as a Function of Nicotine Content","article_path":"articles/PMC3778124.md","variant_annotation_id":1448107584,"variant_haplotypes":"rs16969968","gene":"CHRNA5","drugs":"nicotine","pmid":23358500,"phenotype_category":"Other","significance":"yes","notes":"Genotype GG is associated with decreased total puff volume when exposed to nicotine compared to cigarettes containing placebo in people with Tobacco Use Disorder as compared to genotypes AA + AG.","sentence":"Genotype GG is associated with decreased dose of nicotine in people with Tobacco Use Disorder as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4591203","article_title":"Escitalopram pharmacogenetics: CYP2C19 relationships with dosing and clinical outcomes in Autism Spectrum Disorder","article_path":"articles/PMC4591203.md","variant_annotation_id":1446895835,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"escitalopram","pmid":26313485,"phenotype_category":"Efficacy","significance":"no","notes":"No difference was found between the metabolizer groups (intermediate/poor metabolizer; extensive metabolizer or ultra rapid metabolizer). *3 was genotyped but no carrier identified. *2/*2 N=1 and was grouped with *1/*2. *1/*17 and *17/*17 were grouped together as UM.","sentence":"CYP2C19 *1/*2 + *2/*2 are not associated with response to escitalopram in people with Autistic Disorder as compared to CYP2C19 *1/*1.","alleles":"*1/*2 + *2/*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Autism","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4583245","article_title":"A Genome-Wide Association Study of a Biomarker of Nicotine Metabolism","article_path":"articles/PMC4583245.md","variant_annotation_id":1446903387,"variant_haplotypes":"rs113288603","gene":null,"drugs":"nicotine","pmid":26407342,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The minor allele was independently associated with decreased NMR, indicating decreased rate of nicotine clearance. rs56113850 and rs12461964 were in LD with CYP2A6*2, and esv2663194 (not annotated) was in LD with CYP2A6*9. rs56113850, rs12461964, and esv2663194 emerged as signals independently associated with NMR in GWAS and in conditional analyses. A fourth signal, rs113288603, was not significant in GWAS, but was significant after conditioning on the top associated SNP, rs56113850.","sentence":"Allele T is associated with decreased clearance of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3753270","article_title":"Novel Single Nucleotide Polymorphisms in Interleukin 6 Affect Tacrolimus Metabolism in Liver Transplant Patients","article_path":"articles/PMC3753270.md","variant_annotation_id":1184514687,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":23991193,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"At 1, 3, 4 weeks post-transplantation, The C/D values of tacrolimus in both donors and recipients expressing CYP3A5 were lower than those not expressing CYP3A5.","sentence":"Genotypes CT + TT are associated with increased dose of tacrolimus in people with liver transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170875,"variant_haplotypes":"CYP3A5 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP3A5","drugs":"4-hydroxytamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A5 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of 4-hydroxytamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4087845","article_title":"Pharmacodynamic and kinetic effect of rabeprazole on serum gastrin level in relation to CYP2C19 polymorphism in Chinese Hans","article_path":"articles/PMC4087845.md","variant_annotation_id":1183622261,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"rabeprazole","pmid":16937451,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Healthy individuals with the *1/*1 genotype had lower area under the concentration-time curve (AUC) for rabeprazole, as compared to those with the *2/*2 genotype. Subjects were given rabeprazole for 8 days; AUC was measured on day 1 and day 8 after rabeprazole administration. Please note that the *2 allele was referred to by its previous designation (CYP2C19*m1).","sentence":"CYP2C19 *1/*1 is associated with increased metabolism of rabeprazole in healthy individuals as compared to CYP2C19 *2/*2.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC5373545","article_title":"The risk of clopidogrel resistance is associated with ABCB1 polymorphisms but not promoter methylation in a Chinese Han population","article_path":"articles/PMC5373545.md","variant_annotation_id":1448994492,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"clopidogrel","pmid":28358842,"phenotype_category":"Efficacy","significance":"yes","notes":"There was no significant association between rs1045642 and the risk of clopidogrel resistance across the whole study cohort (p=0.288).; Genotype GG is associated with resistance to clopidogrel in people without hypoproteinaemia as compared to genotype AA (p=0.045).; Allele G is associated with increased resistance to clopidogrel in patients with hypertension compared to allele A (p=0.040) and in patients without hypoproteinaemia compared to allele A (p=0.033).; Genotypes AA + GG are not associated with resistance to clopidogrel in people with hypertension as compared to genotype AA (p=0.085) or in people without hypoproteinaemia as compared to genotype AA (p=0.644).; Genotype GG is not associated with resistance to clopidogrel in people with hypertension as compared to genotype AA+AG (p=0.104) or in people without hypoproteinaemia as compared to genotype AA (p=0.153).; Please note that alleles have been complemented to the positive strand.","sentence":"Genotype GG is associated with increased resistance to clopidogrel in people with Hypertension as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679442,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"lansoprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the *1/*1 genotype had a significantly lower eradication rate of Helicobacter pylori (H. pylori), as compared to those with the *2/*2, *2/*3 or *3/*3 genotype. This was a meta-analysis and included 9 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received the antibiotics amoxicillin and clarithromycin as part of triple therapy.","sentence":"CYP2C19 *1/*1 is associated with decreased response to lansoprazole in people with Helicobacter Infections as compared to CYP2C19 *2/*2 + *2/*3 + *3/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*2 + *2/*3 + *3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC11544447","article_title":"Effect of A118G (rs1799971) single\u2010nucleotide polymorphism of the \u03bc\u2010opioid receptor OPRM1 gene on intraoperative remifentanil requirements in Japanese women undergoing laparoscopic gynecological surgery","article_path":"articles/PMC11544447.md","variant_annotation_id":1452554100,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"acetaminophen","pmid":39093709,"phenotype_category":"Dosage","significance":"yes","notes":"This is after laparoscopic gynecological surgery where there was propofol and remifentanil infusion. \"The number of periodic postoperative acetaminophen doses that were required during 24\u2009h was significantly higher in patients with the AG genotype than the AA genotype (p\u2009=\u20090.039) and in patients with the AG or GG genotype than the AA genotype (p\u2009=\u20090.040; Table 1). Other pain-related phenotypes, including the initial fentanyl bolus dose, PCA fentanyl consumption dose, total postoperative fentanyl dose (Figure 1D), number of patients who required rescue analgesics, and average NRS pain score, were not different among or between patients with any different genotype (Table 1).\"","sentence":"Genotypes AG + GG is associated with increased dose of acetaminophen in women with Pain, Postoperative as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC11354576","article_title":"Pharmacogenetic Approach to Tramadol Use in the Arab Population","article_path":"articles/PMC11354576.md","variant_annotation_id":1452574660,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"tramadol","pmid":39201627,"phenotype_category":"Efficacy","significance":"no","notes":"\"The basal pain score showed a statistically significant difference between subject groups, with the details of OPRM1 G118G for 9.14 and OPRM1 G118A for 8.04 (p < 0.01) in this study (Figure 3). However, such a difference was not observed for the analgesic effect of tramadol (\u0394NRS) between these genotype groups in this study (Table 2).\" \"No homozygous OPRM1 G/G genotype was found in this study.\"","sentence":"Genotype AG is not associated with increased clinical benefit to tramadol in people with Pain, Postoperative as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC8137991","article_title":"Effects of a Common Eight Base Pairs Duplication at the Exon 7-Intron 7 Junction on Splicing, Expression, and Function of OCT1","article_path":"articles/PMC8137991.md","variant_annotation_id":1452527525,"variant_haplotypes":"rs1349294037","gene":"SLC22A1","drugs":"fenoterol","pmid":34025422,"phenotype_category":"Other","significance":"not stated","notes":"\"Even more, the AUC of fenoterol was not higher in homozygous carriers of the rs35854239 duplication allele compared to the wild-type (means of 84.25 vs. 86.84 min \u00d7 ng/ml, respectively; Figure 7B). In comparison, poor OCT1 transporters showed 1.89-fold higher AUCs for fenoterol. This data suggests that compared to the well-known loss-of-function coding variants, the 8 bp duplication shows only limited effects on drugs pharmacokinetics.\" rs35854239 was retired by dbSNP. Authors also described two other rs numbers for this indel (rs113569197 or rs36056065) also retired. We mapped this to 3 possible dbSNP identifiers that all represent indels near the end of exon 7, rs1349294037, rs755473306 and rs2114790299 but none seems to represent exactly the variants depicted in figure 1.","sentence":"Genotype TAAGTTGT/TAAGTTGT is not associated with increased concentrations of fenoterol as compared to genotype del/del.","alleles":"TAAGTTGT/TAAGTTGT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"del/del","comparison_metabolizer_types":null} +{"pmcid":"PMC3020258","article_title":"Increased Risk of Vincristine Neurotoxicity Associated with Low CYP3A5 Expression Genotype in Children with Acute Lymphoblastic Leukemia","article_path":"articles/PMC3020258.md","variant_annotation_id":1007118673,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"vincristine","pmid":21225912,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP3A5 *1/*3 individuals produced significantly more of the M1 vincristine metabolite compared to *3/*3 individuals (1286 +/- 1068 pg/ml vs. 329 +/- 277 pg/ml).; The metabolic ratio of vincristine/M1 was also significantly higher in *3/*3 as compared to *1/*3.","sentence":"CYP3A5 *1/*3 is associated with increased metabolism of vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to CYP3A5 *3/*3.","alleles":"*1/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928113,"variant_haplotypes":"rs6280","gene":"DRD3","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"The C allele was initially significantly more frequent in patients designated as non-responders to risperidone (i.e. <50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.","sentence":"Allele C is associated with decreased response to risperidone in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3195031","article_title":"Population Pharmacokinetic/Pharmacogenetic Model for Optimization of Efavirenz Therapy in Caucasian HIV-Infected Patients","article_path":"articles/PMC3195031.md","variant_annotation_id":1449157016,"variant_haplotypes":"CYP2B6*1, CYP2B6*2","gene":"CYP2B6","drugs":"efavirenz","pmid":21896912,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2B6 *2 is not associated with concentrations of efavirenz in people with HIV as compared to CYP2B6 *1/*1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC11159193","article_title":"Phase I study of irinotecan and doxifluridine for metastatic colorectal cancer focusing on the UGT1A1*28 polymorphism","article_path":"articles/PMC11159193.md","variant_annotation_id":1452566620,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"SN-38","pmid":20028383,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Patients with the heterozygous genotype (TA6/TA7) had significantly higher AUC0\u2013\u221e SN\u201038, maximum concentration of SN\u201038, half\u2010life period of SN\u201038, and lower total clearance of SN\u201038 values compared to the wild\u2010type genotype (TA6/TA6). \" \"These data were collected from patients at level 2 at which the irinotecan dose was 100\u2003mg/m2\"","sentence":"UGT1A1 *1/*28 is associated with increased concentrations of SN-38 in people with Colorectal Neoplasms and Neoplasm Metastasis as compared to UGT1A1 *1/*1.","alleles":"*1/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Colorectal Neoplasms, Other:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3038469","article_title":"Genetic and nongenetic factors associated with warfarin dose requirements in Egyptian patients","article_path":"articles/PMC3038469.md","variant_annotation_id":827864562,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":21228733,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP defines CYP2C9*3. CYP2C9 *2,*3,*4,*5,*8 were grouped into three groups for testing: *1/*1 vs. *1/*2 + *1/*3 + *1/*4 + *1/*5 + *1/*8 vs *2/*2 + *2/*3 + *3/*3 + *5/*5. People having one or two variant alleles had lower dose requirements than people who were *1/*1.","sentence":"Allele C is associated with decreased dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5886039","article_title":"Cystic fibrosis gene modifier SLC26A9 modulates airway response to CFTR-directed therapeutics","article_path":"articles/PMC5886039.md","variant_annotation_id":1448598925,"variant_haplotypes":"rs7512462","gene":"SLC26A9","drugs":"ivacaftor","pmid":28171547,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients had a gating mutation that caused cystic fibrosis (G551D). Response was measured with change in FEV1.","sentence":"Genotypes CC + CT is associated with increased response to ivacaftor in children with Cystic Fibrosis as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3860742","article_title":"RRM1 and RRM2 pharmacogenetics: association with phenotypes in HapMap cell lines and acute myeloid leukemia patients","article_path":"articles/PMC3860742.md","variant_annotation_id":1183700205,"variant_haplotypes":"rs2898950","gene":"RRM1","drugs":"cladribine, cytarabine","pmid":24024897,"phenotype_category":"Efficacy","significance":"yes","notes":"Less patients with a complete response after the first induction therapy were seen in the AA genotype group. No multiple testing adjustments were performed: 7 SNPs were investigated.","sentence":"Genotypes AC + CC is associated with increased response to cladribine and cytarabine in children with Leukemia, Myeloid, Acute as compared to genotype AA.","alleles":"AC + CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3858547","article_title":"High imatinib dose overcomes insufficient response associated with ABCG2 haplotype in chronic myelogenous leukemia patients","article_path":"articles/PMC3858547.md","variant_annotation_id":1184512515,"variant_haplotypes":"rs12505410","gene":"ABCG2","drugs":"imatinib","pmid":24123600,"phenotype_category":"Efficacy","significance":"yes","notes":"Individuals with the GG or GT genotype had a higher cumulative incidence of major molecular response (CI-MMR, estimated using Sokal score) after 18 months of treatment with a 400mg/day dose of imatinib, as compared to those with the TT genotype. No significant results were seen when considering patients taking a 600mg/day dose (n=107; p=0.32), though significant results were seen when considering all patients (n=239; p=0.045). The authors note that they used the Benjamini and Hochberg method for multiple testing issues.","sentence":"Genotypes GG + GT is associated with increased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3360546","article_title":"The Cyclin D1 (CCND1) A870G polymorphism predicts clinical outcome to lapatinib and capecitabine in HER2-positive metastatic breast cancer","article_path":"articles/PMC3360546.md","variant_annotation_id":982010231,"variant_haplotypes":"rs9344","gene":"CCND1","drugs":"lapatinib","pmid":21989330,"phenotype_category":"Efficacy","significance":"no","notes":"The genotype association was not significant in univariate analysis but when looking at A carriers those on capecitabine plus lapatinib did significantly better than those on capecitabine alone whereas for the G homozygotes the outcomes were similar for both drug combinations.","sentence":"Genotypes CA/CA + CA/CG are associated with increased response to lapatinib in women with Breast Neoplasms as compared to genotype CG/CG.","alleles":"CA/CA + CA/CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG/CG","comparison_metabolizer_types":null} +{"pmcid":"PMC6773496","article_title":"\u03b22-Adrenergic Receptor Gene Affects the Heart Rate Response of \u03b2-Blockers: Evidence From 3 Clinical Studies","article_path":"articles/PMC6773496.md","variant_annotation_id":1451107302,"variant_haplotypes":"rs1800888","gene":"ADRB2","drugs":"atenolol, metoprolol","pmid":31090079,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and response to atenolol or metoprolol, as measured by changes in heart rate, in black or white patients. Note that this variant was not analyzed in black patients from the INVEST cohort as the minor allele was not detected in these patients.","sentence":"Allele T is not associated with response to atenolol or metoprolol in people with Tachycardia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tachycardia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032418,"variant_haplotypes":"rs4358872","gene":"NTRK2","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was statistically significant after permutation analysis based on 40,000 replicates, but not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction). Note; this SNP was in LD with rs1948308, rs2378676, and rs4877900 (r^2>0.7).","sentence":"Genotype GG is associated with decreased dose of methadone in people with Heroin Dependence as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144280,"variant_haplotypes":"rs1521470","gene":"ADCY1","drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359440,"variant_haplotypes":"rs11575553","gene":"DDC","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of heroin in people with Heroin Dependence as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10230242","article_title":"Association between single nucleotide polymorphisms in DNA repair genes and the efficacy of radiotherapy in nasopharyngeal carcinoma patients","article_path":"articles/PMC10230242.md","variant_annotation_id":1452124260,"variant_haplotypes":"rs861539","gene":"XRCC3","drugs":"radiotherapy","pmid":37266339,"phenotype_category":"Efficacy","significance":"no","notes":"alleles complemented compared to what is shown in the paper. Authors state \"Thr241Met polymorphism may act as a prognostic indicator for NPC patients treated with radiotherapy\" as OS was better for heterozygotes.","sentence":"Allele A is not associated with response to radiotherapy in people with Nasopharyngeal Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Nasopharyngeal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121600,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the AA or AG genotypes had an increased subjective 'Stimulated' response to oxycodone than subjects with the GG genotype.","sentence":"Genotypes AA + AG are associated with increased response to oxycodone as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4526634","article_title":"Association of ABCB1 and FLT3 Polymorphisms with Toxicities and Survival in Asian Patients Receiving Sunitinib for Renal Cell Carcinoma","article_path":"articles/PMC4526634.md","variant_annotation_id":1446695874,"variant_haplotypes":"rs2305948","gene":"KDR","drugs":"sunitinib","pmid":26244574,"phenotype_category":"Efficacy","significance":"no","notes":"The genotype was not associated with clinical benefit, which was defined as either partial response or stable disease. The genotype was also not associated with progression free survival, or overall survival.","sentence":"Genotype CT is not associated with response to sunitinib in people with Carcinoma, Renal Cell as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3858547","article_title":"High imatinib dose overcomes insufficient response associated with ABCG2 haplotype in chronic myelogenous leukemia patients","article_path":"articles/PMC3858547.md","variant_annotation_id":1184513495,"variant_haplotypes":"rs2725252","gene":"ABCG2","drugs":"imatinib","pmid":24123600,"phenotype_category":"Efficacy","significance":"yes","notes":"As part of a haplotype with rs12505410. Where response was defined as BCR-ABL/ABL standardized ratio (BCR-ABL^IS) of <=10% at 3 months, <=1% at 12 months and <=0.1% at 18 months. Patients were either taking 400mg/day or 600mg/day dose of imatinib. Those with the G-C haplotype (rs12505410-rs2725252) taking a 400mg/day dose had a significantly better response (under all definitions of response), as compared to those with any other haplotype (i.e. G-A, T-C, T-A). Results were NOT significant for those taking a 600mg/day dose (p=0.209, 0.316 and 0.209, respectively for the different response definitions). Please note that alleles for rs2725252 have been complemented to the plus chromosomal strand.","sentence":"Allele C is associated with increased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC7388522","article_title":"The association between serotonin-related gene polymorphisms and susceptibility and early sertraline response in patients with panic disorder","article_path":"articles/PMC7388522.md","variant_annotation_id":1452054720,"variant_haplotypes":"rs57098334","gene":"SLC6A4","drugs":"sertraline","pmid":32723321,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype (AGCCCACCC)10/(AGCCCACCC)10 is not associated with response to sertraline in people with Panic Disorder as compared to genotype (AGCCCACCC)12/(AGCCCACCC)12.","alleles":"(AGCCCACCC)10/(AGCCCACCC)10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Panic Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"(AGCCCACCC)12/(AGCCCACCC)12","comparison_metabolizer_types":null} +{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680695,"variant_haplotypes":"rs762551","gene":"CYP1A2","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype CC is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC10483403","article_title":"Genetic polymorphisms are associated with individual susceptibility to dexmedetomidine","article_path":"articles/PMC10483403.md","variant_annotation_id":1452241041,"variant_haplotypes":"rs141294036","gene":null,"drugs":"dexmedetomidine","pmid":37693312,"phenotype_category":"Toxicity","significance":"yes","notes":"as measured by decreased in mean arterial pressure. \"KATP rs141294036 In our study, homozygous carriers of the major allele (CC) produced a bigger absolute value for the percent changes in MAP than those either heterozygous (CT) or homozygous for the minor allele (TT) (\u22129.80 \u00b1 9.40 vs. \u22122.94 \u00b1 9.33, p = 0.032). Homozygosity for the major allele C) of KATP rs141294036 can be inferred to be associated with greater susceptibility to the cardiovascular impact of DXM.\"","sentence":"Genotype CC is associated with increased response to dexmedetomidine in people with surgery as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:surgery","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6891932","article_title":"Effects of SLCO1B1 polymorphisms on plasma estrogen concentrations in women with breast cancer receiving aromatase inhibitors exemestane and letrozole","article_path":"articles/PMC6891932.md","variant_annotation_id":1450934909,"variant_haplotypes":"rs10841753","gene":"SLCO1B1","drugs":"estrone sulfate","pmid":31190621,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"prior to treatment with aromatase inhibitors.","sentence":"Allele C is associated with decreased estrone sulfate in women with Breast Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":null,"multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5901893","article_title":"Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC5901893.md","variant_annotation_id":1450930527,"variant_haplotypes":"rs16872401","gene":null,"drugs":"atenolol","pmid":29650764,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of atenolol in people with Hypertension as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6375065","article_title":"An expanded pharmacogenomics warfarin dosing table with utility in generalised dosing guidance","article_path":"articles/PMC6375065.md","variant_annotation_id":1448109703,"variant_haplotypes":"rs72558189","gene":"CYP2C9","drugs":"warfarin","pmid":27121899,"phenotype_category":"Dosage","significance":"not stated","notes":"This variant annotation is part of a dosing algorithm table based on 8 genetic variants.","sentence":"Allele A is associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4479596","article_title":"Effect of CYP2B6 Gene Polymorphisms on Efavirenz Plasma Concentrations in Chinese Patients with HIV Infection","article_path":"articles/PMC4479596.md","variant_annotation_id":1448997136,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"efavirenz","pmid":26107645,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes AG + GG are associated with increased concentrations of efavirenz in people with HIV Infections as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC9585281","article_title":"Association of ABCC2 polymorphism with clopidogrel response in Chinese patients undergoing percutaneous coronary intervention","article_path":"articles/PMC9585281.md","variant_annotation_id":1451930360,"variant_haplotypes":"rs3740066","gene":"ABCC2","drugs":"clopidogrel","pmid":36278153,"phenotype_category":"Efficacy","significance":"no","notes":"\"neither ABCC2 rs2273697 nor ABCC2 rs3740066 polymorphisms affected PAIR% values \"","sentence":"Genotype TT is not associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171049,"variant_haplotypes":"rs3211371","gene":"CYP2B6","drugs":"methadone","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT is associated with increased concentrations of methadone as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC9820603","article_title":"Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks","article_path":"articles/PMC9820603.md","variant_annotation_id":1452570006,"variant_haplotypes":"rs16944","gene":"IL1B","drugs":"almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan, zolmitriptan","pmid":36614097,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with clinical benefit to almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan or zolmitriptan in people with Migraine without Aura as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729393,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes AA + AG is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4432150","article_title":"Influence of ABCC2 and ABCC4 Polymorphisms on Tenofovir Plasma Concentrations in Thai HIV-Infected Patients","article_path":"articles/PMC4432150.md","variant_annotation_id":1444703287,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"tenofovir","pmid":25801567,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes AA + AG is not associated with concentrations of tenofovir in people with HIV Infections as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3749570","article_title":"VEGF-A polymorphisms predict progression-free survival among advanced castration-resistant prostate cancer patients treated with metronomic cyclophosphamide","article_path":"articles/PMC3749570.md","variant_annotation_id":1183699124,"variant_haplotypes":"rs699947","gene":"VEGFA","drugs":"cyclophosphamide","pmid":23860526,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant by Bonferroni's correction (p-value set at <0.017). Patients with advanced prostate cancer undergoing metronomic chemotherapy who have the CC genotype were more frequently non-responders to chemotherapy. Responders were classified as patients who had a decrease in prostrate-specific antigen (PSA) of >= 50% and a PSA stabilization of >= 6 months. Patients also received celecoxib and dexamethasone, and some patients received docetaxel-, mitoxantrone-, and vinorelbine-based chemotherapeutic regimens.","sentence":"Genotype CC is not associated with decreased response to cyclophosphamide in people with Prostatic Neoplasms as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC6361127","article_title":"Effects of UGT1A1 Genotype on the Pharmacokinetics, Pharmacodynamics, and Toxicities of Belinostat Administered by 48-Hour Continuous Infusion in Patients With Cancer","article_path":"articles/PMC6361127.md","variant_annotation_id":1447673266,"variant_haplotypes":"UGT1A1*28","gene":"UGT1A1","drugs":"belinostat","pmid":26313268,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in AUC, Cmax, clearance or half-life was seen between the *1/*1 (n=11), *1/*28 (n=11) or *28/*28 (n=3) genotypes, either when considering all patients (n=25) or only those who received a belinostat dose greater than 400 mg/m2/24h (n=15).","sentence":"UGT1A1 *28 is not associated with metabolism of Belinostat in people with Neoplasms.","alleles":"*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4581326","article_title":"Effect of Factor XIII-A G185T Polymorphism on Visual Prognosis after Photodynamic Therapy for Neovascular Macular Degeneration","article_path":"articles/PMC4581326.md","variant_annotation_id":1448099841,"variant_haplotypes":"rs5985","gene":"F13A1","drugs":"Photodynamic therapy","pmid":26307969,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles given as reverse strand T and G. Change in measured best-correct visual acuity after 2 years of treatment.","sentence":"Genotypes AA + AC are associated with decreased response to photodynamic therapy in people with Choroidal Neovascularization as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Choroidal Neovascularization","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC11003701","article_title":"Escitalopram and sertraline population pharmacokinetic analysis in pediatric patients","article_path":"articles/PMC11003701.md","variant_annotation_id":1452263560,"variant_haplotypes":"CYP2C19 poor metabolizer","gene":"CYP2C19","drugs":"escitalopram","pmid":37755681,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"On average, poor and intermediate metabolizers had 69% and 20%; slower CL/F relative to normal metabolizers, respectively,; whereas rapid and ultrarapid metabolizers had 18% and; 23% faster CL/F, respectively\"","sentence":"CYP2C19 intermediate metabolizer and poor metabolizer is associated with decreased clearance of escitalopram in children as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3555056","article_title":"Apple juice greatly reduces systemic exposure to atenolol","article_path":"articles/PMC3555056.md","variant_annotation_id":1450943400,"variant_haplotypes":"rs2306168","gene":"SLCO2B1","drugs":"atenolol","pmid":22574741,"phenotype_category":"Metabolism/PK","significance":"no","notes":"both *1/*1 and *3/*3 had similar Cmax and AUC and both were reduced significantly by apple juice.","sentence":"Genotype TT is not associated with increased exposure to atenolol in healthy individuals as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729281,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes AA + AG is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11264771","article_title":"Effect of MDR1 C3435T and CYP2C19 genetic polymorphisms on the outcome of Helicobacter pylori eradication treatment in children with gastritis and peptic ulcer, Vietnam","article_path":"articles/PMC11264771.md","variant_annotation_id":1452534040,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"Antibiotics, esomeprazole","pmid":39030549,"phenotype_category":"Efficacy","significance":"yes","notes":"\" In the MDR1; C3435T polymorphism analysis, the cure rates for MDR1; 3435T/T were lowest with 68,6%, C/T, and T/T genotypes were 85.4%, and 86.7%, respectively (p=0.02). The; patients with MDR1 3435T/T genotype were 3 times; more likely to fail treatment than MDR1 3435 C/C and; C/T.\" Alleles complemented.","sentence":"Genotype AA is associated with decreased clinical benefit to Antibiotics and esomeprazole in children with Helicobacter Infections as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Other:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10990950","article_title":"Effects of CYP2D6 gene polymorphism on plasma concentration and therapeutic effect of olanzapine","article_path":"articles/PMC10990950.md","variant_annotation_id":1452437360,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*10, CYP2D6*34, CYP2D6*39, CYP2D6*65","gene":"CYP2D6","drugs":"olanzapine","pmid":38576571,"phenotype_category":"Metabolism/PK","significance":"no","notes":"*10/*65 was labeled as \"Unknowns\" for metabolizer phenotype. \"The EMs group showed a trend of lower olanzapine plasma concentrations and C/D ratios than the IMs group at different time points (Fig. 1A and B). Interestingly, the olanzapine concentration in the Unknowns group exhibited a noticeable decrease at 8 weeks, leading to a lower trend of concentrations compared to the other two groups (Fig. 1A and B). However, the difference was not statistically significant.\"\"The results showed no significant differences in plasma olanzapine concentrations, treatment response, or the occurrence of adverse effects among different CYP2D6 genotypes\"","sentence":"CYP2D6 *10/*65 is associated with decreased concentrations of olanzapine in people with Schizophrenia as compared to CYP2D6 *1/*1 + *1/*34 + *1/*39 + *2/*2 + *2/*34 + *2/*39 + *10/*39 + *39/*39 (assigned as normal metabolizer phenotype) .","alleles":"*10/*65","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*34 + *1/*39 + *2/*2 + *2/*34 + *2/*39 + *10/*39 + *39/*39","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479756,"variant_haplotypes":"rs9306356","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5354739","article_title":"Pharmacogenetic analysis of high-dose methotrexate treatment in children with osteosarcoma","article_path":"articles/PMC5354739.md","variant_annotation_id":1449188634,"variant_haplotypes":"rs7643038","gene":"NR1I2","drugs":"methotrexate","pmid":27566582,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The G allele is associated with longer half-life of methotrexate.","sentence":"Allele G is associated with decreased metabolism of methotrexate in children with Osteosarcoma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928209,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to risperidone in people with Schizophrenia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3172251","article_title":"IL28B, HLA-C, and KIR Variants Additively Predict Response to Therapy in Chronic Hepatitis C Virus Infection in a European Cohort: A Cross-Sectional Study","article_path":"articles/PMC3172251.md","variant_annotation_id":1448996035,"variant_haplotypes":"HLA-C*01:02, HLA-C*02:02, HLA-C*03:02, HLA-C*04:01, HLA-C*05:01, HLA-C*06:02, HLA-C*07:01, HLA-C*08:01, HLA-C*12:02, HLA-C*14:02, HLA-C*15:02, HLA-C*16:01, HLA-C*17:01","gene":"HLA-C","drugs":"peginterferon alfa-2b, ribavirin","pmid":21931540,"phenotype_category":"Efficacy","significance":"yes","notes":"HLA-C alleles are grouped in the paper as C1 and C2. C1 alleles are written as Cw*01, Cw*03, Cw*07, Cw*08, Cw*12, Cw*14 and Cw*16. C2 alleles are written as Cw*02, Cw*04, Cw*05, Cw*06, Cw*15 and Cw*17. The authors state that patients who are homozygous for HLA-C2 (i.e. they have two alleles from group C2) are less likely to clear hepatitis C virus upon treatment than patients who are HLA-C1 homozygous or are HLA-C1/C2 heterozygous.","sentence":"HLA-C *02:02 + *04:01 + *05:01 + *06:02 + *15:02 + *17:01 is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to HLA-C *01:02:01 + *03:02 + *07:01:01 + *08:01 + *12:02:01 + *14:02:01 + *16:01:01.","alleles":"*02:02 + *04:01 + *05:01 + *06:02 + *15:02 + *17:01","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*01:02:01 + *03:02 + *07:01:01 + *08:01 + *12:02:01 + *14:02:01 + *16:01:01","comparison_metabolizer_types":null} +{"pmcid":"PMC7497848","article_title":"Potential role of polymorphisms in the transporter genes ENT1 and MATE1/OCT2 in predicting TAS-102 efficacy and toxicity in patients with refractory metastatic colorectal cancer","article_path":"articles/PMC7497848.md","variant_annotation_id":1449146792,"variant_haplotypes":"rs9394992","gene":"SLC29A1","drugs":"tipiracil hydrochloride, trifluridine","pmid":28992563,"phenotype_category":"Efficacy","significance":"yes","notes":"The SNP was tested for association alone and with three other SNPs after univariate and multivariate analysis in a training (N= 52, Japan) and testing cohorts (N = 127, Italy). Although it remained significantly associated with progression-free and overall survival in univariate and multivariate analysis in the training cohort, it was not significant in the testing cohort.","sentence":"Genotypes CT + TT is associated with increased response to tipiracil hydrochloride and trifluridine in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4012056","article_title":"Determination of the Most Influential Sources of Variability in Tacrolimus Trough Blood Concentrations in Adult Liver Transplant Recipients: A Bottom-Up Approach","article_path":"articles/PMC4012056.md","variant_annotation_id":1184470918,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":24526611,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Liver DONOR genotype.","sentence":"CYP3A5 *1/*3 is associated with increased clearance of tacrolimus in people with liver transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC3727245","article_title":"CYP2C8*3 predicts benefit/risk profile in breast cancer patients receiving neoadjuvant paclitaxel","article_path":"articles/PMC3727245.md","variant_annotation_id":827922780,"variant_haplotypes":"CYP2C8*1, CYP2C8*3","gene":"CYP2C8","drugs":"paclitaxel","pmid":22527101,"phenotype_category":"Efficacy","significance":"yes","notes":"Response = complete clinical response (cCR). 55% cCR vs 23%. Some patients who had HER2 overexpressing tumors received trastuzumab at the same time as the paclitaxel.","sentence":"CYP2C8 *1/*3 + *3/*3 is associated with increased response to paclitaxel in women with Breast Neoplasms as compared to CYP2C8 *1/*1.","alleles":"*1/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4616511","article_title":"Combined Effects of 2 Interleukin 28B Polymorphisms on the Therapeutic Outcome of Hepatitis C Patients With Circulating Cryoglobulins","article_path":"articles/PMC4616511.md","variant_annotation_id":1447951883,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"interferons, ribavirin","pmid":26334898,"phenotype_category":"Efficacy","significance":"yes","notes":"Measured according to impact on sustained virological response. Significant only in non-cryoglobulinemic patients. Not significant in cryoglobulinemic patients. CC to CT p = 0.023; CC to TT p = 0.017.","sentence":"Genotype CC is associated with increased response to interferons and ribavirin in people with Hepatitis C as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896157,"variant_haplotypes":"rs910039","gene":"CAP2","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896227,"variant_haplotypes":"rs72772787","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele C is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121728,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test, subjective effects of oxycodone.","sentence":"Allele T is not associated with response to oxycodone as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC8530979","article_title":"Pharmacogenetic Predictors of Cannabidiol Response and Tolerability in Treatment\u2010Resistant Epilepsy","article_path":"articles/PMC8530979.md","variant_annotation_id":1451553150,"variant_haplotypes":"rs1339067","gene":"SLC15A1","drugs":"cannabidiol","pmid":34464454,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotype TT is associated with decreased response to cannabidiol in people with Epilepsy as compared to genotypes AA + AT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AT","comparison_metabolizer_types":null} +{"pmcid":"PMC9819208","article_title":"Impact of ABCC2 1249G>A and \u221224C>T Polymorphisms on Lacosamide Efficacy and Plasma Concentrations in Uygur Pediatric Patients With Epilepsy in China","article_path":"articles/PMC9819208.md","variant_annotation_id":1451921140,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"lacosamide","pmid":36253887,"phenotype_category":"Efficacy","significance":"yes","notes":"\"the proportion of patients with the ABCC2 1249G>A (rs2273697) A; allele and ABCC2 -24C>T (rs717620) T allele in the drug-resistant group was; significantly higher than that in the drug-responsive group\"","sentence":"Allele A is associated with increased resistance to lacosamide in children with Epilepsy as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6493375","article_title":"ABCC2 Polymorphisms and Haplotype are Associated with Drug Resistance in Chinese Epileptic Patients","article_path":"articles/PMC6493375.md","variant_annotation_id":827921760,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"antiepileptics","pmid":22630058,"phenotype_category":"Efficacy","significance":"no","notes":"However, a haplotype of TGT (ABCC2 -24C>T/ABCC2 1249G>A/ABCC2 3972C>T) was found at significantly higher frequencies in resistant patients compared to responsive patients.","sentence":"Allele G is not associated with increased resistance to antiepileptics in people with Epilepsy as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5432414","article_title":"ABC Transporter Polymorphisms are Associated with Irinotecan Pharmacokinetics and Neutropenia","article_path":"articles/PMC5432414.md","variant_annotation_id":1448432548,"variant_haplotypes":"rs6498588","gene":"ABCC1","drugs":"SN-38","pmid":27845419,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"AUC of SN-38 was adjusted for irinotecan dose.","sentence":"Genotypes AT + TT are associated with increased exposure to SN-38 in people with Colorectal Neoplasms as compared to genotype AA.","alleles":"AT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3871508","article_title":"Correlation of N-Acetyltransferase 2 Genotype with Isoniazid Acetylation in Polish Tuberculosis Patients","article_path":"articles/PMC3871508.md","variant_annotation_id":1183702439,"variant_haplotypes":"NAT2*4, NAT2*6, NAT2*7, NAT2*16","gene":"NAT2","drugs":"isoniazid","pmid":24383060,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Originally annotated as NAT2 *5A/*5A + *5A/*6B + *6B/*6B + *6B/*7A + *7A/*7A (assigned as slow acetylator phenotype). Slow acetylators (a combination of two slow alleles NAT2*5, *6 or *7) had higher isoniazid plasma concentrations and bioavailability compared to rapid (*4/*4) and intermediate acetylators (*4 allele combined with *5, *6 or *7). Patients with *7/*7 genotype had the highest levels. Authors report \"To identify the three NAT2* mutations, C481T (NAT2*5), G590A (NAT2*6), and G857A (NAT2*7)\"; The arylamine N-acetyltransferases (NATs) database was transitioned into the PharmVar database in March 2024. The alleles in this annotation is mapped as following: NAT2*5A under the *16 core allele; NAT2*6B under the *6 core allele; NAT2*7A under the *7 core allele.","sentence":"NAT2 *16/*16 + *16/*6 + *6/*6 + *6/*7 + *7/*7 (assigned as slow acetylator phenotype) is associated with decreased metabolism of isoniazid in people with Tuberculosis as compared to NAT2 *4/*4 (assigned as rapid acetylator phenotype) .","alleles":"*16/*16 + *16/*6 + *6/*6 + *6/*7 + *7/*7","specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*4/*4","comparison_metabolizer_types":"rapid acetylator"} +{"pmcid":"PMC6462825","article_title":"Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort","article_path":"articles/PMC6462825.md","variant_annotation_id":1449164060,"variant_haplotypes":"VKORC1 low activity","gene":"VKORC1","drugs":"warfarin","pmid":29298995,"phenotype_category":"Dosage","significance":"yes","notes":"Mean dose (in mg) of warfarin according to activity phenotype was: High Activity (HA)>Intermediate Activity (IA)>Poor Activity (PA). Activity phenotype was based on presence of VKORC1*2, *3 and *4. Warfarin dose requirement was defined as the reported daily dose at 3 months following treatment initiation.","sentence":"VKORC1 low activity is associated with decreased dose of warfarin.","alleles":null,"specialty_population":null,"metabolizer_types":"low activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6587626","article_title":"MMP-2 and MMP-9 gene polymorphisms act as biological indicators for ulinastatin efficacy in patients with severe acute pancreatitis","article_path":"articles/PMC6587626.md","variant_annotation_id":1451144564,"variant_haplotypes":"rs243865","gene":"MMP2","drugs":"ulinastatin","pmid":31192912,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased response to ulinastatin in people with Pancreatitis as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pancreatitis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3633658","article_title":"Pharmacogenetics for Genes Associated with Age-Related Macular Degeneration (AMD) in the Comparison of AMD Treatments Trials (CATT)","article_path":"articles/PMC3633658.md","variant_annotation_id":1183491593,"variant_haplotypes":"rs11200638","gene":"HTRA1","drugs":"bevacizumab, ranibizumab","pmid":23337555,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in mean visual acuity (units = letters), mean visual acuity change from baseline (units = letters), >= 15-letter increase from baseline (%), mean number of injections, retinal thickness (%, units = um), mean change in total foveal thickness from baseline (units = um), dry on optical coherence tomography (%), leakage on fluorescein angiography (%) or mean change in lesion size from baseline (units = disc area) after 1 year of treatment were seen between genotypes. p <= 0.01 was considered statistically significant to adjust for multiple comparisons.","sentence":"Genotype AA is not associated with response to bevacizumab or ranibizumab in people with Macular Degeneration as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3753327","article_title":"Warfarin Anticoagulant Therapy: A Southern Italy Pharmacogenetics-Based Dosing Model","article_path":"articles/PMC3753327.md","variant_annotation_id":1183697697,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":23990957,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP was presented as CYP4F2 1297G>A. Patients with the TT allele showed significantly higher doses of warfarin as compared to patients carrying the wildtype allele, C. However, this effect was small as the difference in dose between wildtype (CC) and homozygous variant (TT) genotypes was 0.6 mg/day.","sentence":"Genotypes CC + CT is associated with decreased dose of warfarin in people with Cardiovascular Diseases as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4707035","article_title":"Evaluation of genetic association of neurodevelopment and neuroimmunological genes with antipsychotic treatment response in schizophrenia in Indian populations","article_path":"articles/PMC4707035.md","variant_annotation_id":1447681665,"variant_haplotypes":"rs1544938","gene":"ADCY2","drugs":"antipsychotics","pmid":26788534,"phenotype_category":"Efficacy","significance":"yes","notes":"In high severity schizophrenia patient subgroup","sentence":"Allele C is associated with increased response to antipsychotics in people with Schizophrenia as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10758687","article_title":"Dosing strategies for de novo once-daily extended release tacrolimus in kidney transplant recipients based on CYP3A5 genotype","article_path":"articles/PMC10758687.md","variant_annotation_id":1452345200,"variant_haplotypes":"CYP3A5*1","gene":"CYP3A5","drugs":"tacrolimus","pmid":38174147,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP3A5 variants tested: \"CYP3A5*3 (rs776746), CYP3A5*6 (rs10264272), and CYP3A5*7 (rs41303343)\". \"Mean time to therapeutic tacrolimus trough concentration was longer in CYP3A5 intermediate and extensive metabolizers compared to CYP3A5 non-expressers\"","sentence":"CYP3A5 *1 is associated with increased time to response to tacrolimus in people with Kidney Transplantation.","alleles":"*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"time to response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162751,"variant_haplotypes":"rs16840252","gene":"CTLA4","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. This SNP is a proxy for rs4553808. Authors described association as suggestive in the AA population but it did not survive multiple testing correction and the authors did not state which allele was the associated allele.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2432487","article_title":"Effect of CYP2C19*2 and *17 mutations on pharmacodynamics and kinetics of proton pump inhibitors in Caucasians","article_path":"articles/PMC2432487.md","variant_annotation_id":1183623411,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"omeprazole, pantoprazole","pmid":18241283,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant differences in area under the concentration-time curve (AUC) were seen between the two genotypes in subjects taking omeprazole (20 mg/day) or pantoprazole (40 mg/day). Subjects were treated with either drug for 6 days, in a crossover fashion; AUC was measured on day 1 and day 6 after initiation of treatment.","sentence":"CYP2C19 *1/*1 is not associated with metabolism of omeprazole or pantoprazole in healthy individuals as compared to CYP2C19 *1/*17.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*17","comparison_metabolizer_types":null} +{"pmcid":"PMC7308427","article_title":"Polymorphisms of SLC19A1 80 G>A, MTHFR 677 C>T, and Tandem TS Repeats Influence Pharmacokinetics, Acute Liver Toxicity, and Vomiting in Children With Acute Lymphoblastic Leukemia Treated With High Doses of Methotrexate","article_path":"articles/PMC7308427.md","variant_annotation_id":1451552740,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"methotrexate","pmid":32612964,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"SNP is referred to in the paper as 80 G>A and was mapped to rs1051266 by PharmGKB. Please note that alleles have been complemented to the positive strand.","sentence":"Genotype TT is associated with increased steady-state concentration of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"steady-state concentration of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438651,"variant_haplotypes":"rs7902657","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 6.0E-7.","sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5795999","article_title":"Relationship between Lipid Phenotypes, Overweight, Lipid Lowering Drug Response and KIF6 and HMG-CoA Genotypes in a Subset of the Brisighella Heart Study Population","article_path":"articles/PMC5795999.md","variant_annotation_id":1452362421,"variant_haplotypes":"rs9462535","gene":"KIF6","drugs":"hmg coa reductase inhibitors","pmid":29295555,"phenotype_category":"Efficacy","significance":"no","notes":"With regard to lipid-lowering therapy with statins, the authors did not find any association between HMG-CoA or KIF6 genotypes and achievement of <130 mg/dL LDL-C level.","sentence":"Genotypes AC + CC are not associated with response to hmg coa reductase inhibitors as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5074472","article_title":"Pharmacokinetics of Bupropion and Its Pharmacologically Active Metabolites in Pregnancy","article_path":"articles/PMC5074472.md","variant_annotation_id":1448257532,"variant_haplotypes":"CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"bupropion","pmid":27528039,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2C19 *2 + *3 (assigned as intermediate metabolizer and poor metabolizer phenotype) are associated with decreased metabolism of bupropion in women with Pregnancy as compared to CYP2C19 *17 (assigned as normal metabolizer phenotype) .","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*17","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC9890192","article_title":"Associations between CES1 variants and dosing and adverse effects in children taking methylphenidate","article_path":"articles/PMC9890192.md","variant_annotation_id":1452009380,"variant_haplotypes":"rs4122238","gene":"CES1","drugs":"methylphenidate","pmid":36741090,"phenotype_category":"Dosage","significance":"no","notes":"Authors never explicitly state which allele is associated with lower dose but do show that it is major allele in figure 5. The frequencies in gnomAD for all populations show G as major allele and A as minor allele. This was not significant after Benjamini-Hochberg correction for multiple hypothesis testing which the authors state \"may be too stringent\".","sentence":"Genotypes AG + GG is associated with decreased dose of methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3944116","article_title":"Effect of CYP3A4*22, CYP3A5*3, and CYP3A Combined Genotypes on Cyclosporine, Everolimus, and Tacrolimus Pharmacokinetics in Renal Transplantation","article_path":"articles/PMC3944116.md","variant_annotation_id":1184470953,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"cyclosporine, everolimus","pmid":24522145,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A5 *1/*1 + *1/*3 is not associated with clearance of cyclosporine or everolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113700,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele G is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4828529","article_title":"Influence of genetic polymorphisms in the folate pathway on toxicity after high-dose methotrexate treatment in pediatric osteosarcoma","article_path":"articles/PMC4828529.md","variant_annotation_id":1451546960,"variant_haplotypes":"rs2372536","gene":"ATIC","drugs":"methotrexate","pmid":27104192,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with concentrations of methotrexate in children with Osteosarcoma as compared to allele C.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501871,"variant_haplotypes":"rs4688040","gene":"NR1I2","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was significant in the whole cohort. As measured by a higher carbamazepine-10-11 epoxide: carbamazepine ratio.","sentence":"Allele T is associated with increased metabolism of carbamazepine in people with Epilepsy as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5370513","article_title":"Predictive Value of UGT1A1*28 Polymorphism In Irinotecan-based Chemotherapy","article_path":"articles/PMC5370513.md","variant_annotation_id":1451213340,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan","pmid":28367249,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis of studies of Asian subjects with lung cancer (small-cell and non-small cell) from China, Korea, and Japan treated with irinotecan-based chemotherapy.","sentence":"UGT1A1 *1/*28 + *28/*28 is not associated with increased response to irinotecan in people with Lung Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28 + *28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3952719","article_title":"The PlA1/A2 polymorphism of glycoprotein IIIa in relation to efficacy of antiplatelet drugs: a systematic review and meta-analysis","article_path":"articles/PMC3952719.md","variant_annotation_id":1184989701,"variant_haplotypes":"rs5918","gene":"ITGB3","drugs":"aspirin, clopidogrel","pmid":23834376,"phenotype_category":"Efficacy","significance":"no","notes":"Allele C = PIA2, allele T = PIA1.","sentence":"Allele C is not associated with resistance to aspirin or clopidogrel as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6246957","article_title":"Fc\u2010gamma receptor polymorphisms, cetuximab therapy, and overall survival in the CCTG CO.20 trial of metastatic colorectal cancer","article_path":"articles/PMC6246957.md","variant_annotation_id":1449752258,"variant_haplotypes":"rs1801274","gene":"FCGR2A","drugs":"cetuximab","pmid":30318772,"phenotype_category":"Efficacy","significance":"yes","notes":"Overall survival and progression-free survival were used as indicators of response to cetuximab.","sentence":"Genotype AA is associated with increased response to cetuximab in people with Colorectal Neoplasms as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2935997","article_title":"The effects of CYP2D6 and CYP3A activities on the pharmacokinetics of immediate release oxycodone","article_path":"articles/PMC2935997.md","variant_annotation_id":1449003196,"variant_haplotypes":"CYP2D6 poor metabolizer genotype","gene":"CYP2D6","drugs":"oxymorphone","pmid":20590587,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The AUC for oxymorphone was significantly lower in poor metabolizers than in ultrarapid metabolizers.","sentence":"CYP2D6 poor metabolizer is associated with decreased exposure to oxymorphone in healthy individuals as compared to CYP2D6 ultrarapid metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"ultrarapid metabolizer"} +{"pmcid":"PMC3292264","article_title":"Exploration of CYP450 and drug transporter genotypes and correlations with nevirapine exposure in Malawians","article_path":"articles/PMC3292264.md","variant_annotation_id":827823747,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"nevirapine","pmid":22111602,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"no association with PK parameters area under the concentration time curve or apparent oral clearance of the drug. [stat_test: univariate and multiple linear regression]","sentence":"Genotype CC is not associated with decreased clearance of nevirapine in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896151,"variant_haplotypes":"rs2566255","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele C is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003337,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There is no association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: TC+TT (0.45 (0.09\u201341.63)) vs. CC 1.1. (0.15\u20137.53)).","sentence":"Genotypes CT + TT are not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982037980,"variant_haplotypes":"rs3135506","gene":"APOA5","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"yes","notes":"Carriers of the C allele had greater decreases in plasma triglyceride (TG) and high-density lipoprotein (HDL) levels over 3 weeks of treatment, as compared to GG homozygotes.","sentence":"Genotypes CC + CG are associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163258,"variant_haplotypes":"rs4149117","gene":"SLCO1B3","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. Authors described association as suggestive in the AA population but it did not survive multiple testing correction and the authors did not state which allele was the associated allele.","sentence":"Allele G is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC10377184","article_title":"DRD2, DRD3, and HTR2A Single-Nucleotide Polymorphisms Involvement in High Treatment Resistance to Atypical Antipsychotic Drugs","article_path":"articles/PMC10377184.md","variant_annotation_id":1452200400,"variant_haplotypes":"rs1799732","gene":"DRD2","drugs":"antipsychotics","pmid":37509727,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Furthermore, the DRD2 rs1799732 I|I vs. D|I genotype significantly predicted the; HTR group membership (OR = 12.079; B = 2.491; p = 0.037) (Table 3).\"","sentence":"Allele G is associated with increased resistance to antipsychotics in people with Mood Disorders or Schizophrenia as compared to allele del.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Mood Disorder, Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} +{"pmcid":"PMC4304713","article_title":"Prediction Formulas for Individual Opioid Analgesic Requirements Based on Genetic Polymorphism Analyses","article_path":"articles/PMC4304713.md","variant_annotation_id":1444694056,"variant_haplotypes":"rs2952768","gene":null,"drugs":"fentanyl","pmid":25615449,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"A formula was developed to predict individual opioid use during the first 24-h post-operative period for patients who underwent craniofacial surgery. The post-operative period R squared values were higher when genotype information was included. In the first group fentanyl was administered by IV, on demand, with a bolus dose of 20 micrograms and a 10 minute lockout period 24-h post-op.","sentence":"Genotype CC is associated with increased dose of fentanyl in people with Pain, Postoperative as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Side Effect:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4757974","article_title":"Tafenoquine treatment of Plasmodium vivax malaria: suggestive evidence that CYP2D6 reduced metabolism is not associated with relapse in the Phase 2b DETECTIVE trial","article_path":"articles/PMC4757974.md","variant_annotation_id":1447954841,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*4, CYP2D6*9, CYP2D6*10, CYP2D6*41","gene":"CYP2D6","drugs":"tafenoquine","pmid":26888075,"phenotype_category":"Efficacy","significance":"no","notes":"Please not patients are co-treated with chloroquine. No evidence of association between CYP2D6 IM phenotype and increased frequency of clinical relapse of P. vivax infection was seen in either of the TQ treatment groups. Genotyped with Affymetrix\u00ae DMET-Plus array. Phenotype grouping: poor metabolizers two no function alleles; intermediate metabolizers (IM) one null and one decreased function allele or two decreased function alleles, or one null allele and one normal allele; extensive metabolizers (EM) if they carried two normal alleles or one normal allele and one deficient allele.","sentence":"CYP2D6 *4/*41 + *1/*4 + *10/*10 + *10/*41 + *2/*4 + *41/*41 is not associated with decreased response to tafenoquine in people with Malaria as compared to CYP2D6 *1/*10 + *1/*41 + *1/*9 + *2/*10 + *2/*41 + *1/*1 + *1/*2 + *2/*2.","alleles":"*4/*41 + *1/*4 + *10/*10 + *10/*41 + *2/*4 + *41/*41","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Malaria","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*10 + *1/*41 + *1/*9 + *2/*10 + *2/*41 + *1/*1 + *1/*2 + *2/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449002940,"variant_haplotypes":"rs11045879","gene":"SLCO1B1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC10995391","article_title":"Effect of NAT2, GSTM1 and CYP2E1 genetic polymorphisms on plasma concentration of isoniazid and its metabolites in patients with tuberculosis, and the assessment of exposure-response relationships","article_path":"articles/PMC10995391.md","variant_annotation_id":1452443262,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"isoniazid","pmid":38584604,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"More specifically, INH AUC0\u20136h and INH Cmax; values were significantly higher, while AcINH AUC0\u20136h values were; significantly lower in NAT2 slow acetylators. Also, median values of; both AcINH/INH and INA/INH ratios were significantly lower in; the NAT2 SA group.\" \"A 1211-bp fragment, which contains the entire coding region of; NAT2 was amplified by PCR\" alleles were assigned using the Greek nomenclature database. \"individuals were; classified as rapid (carrying two rapid NAT2 alleles), intermediate; (one rapid and one slow allele) or slow (two slow alleles) acetylators.\" No fast acetylators were observed.","sentence":"NAT2 slow acetylator is associated with increased concentrations of isoniazid in people with Tuberculosis as compared to NAT2 intermediate acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate acetylator"} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449558033,"variant_haplotypes":"rs162040","gene":"MTRR","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184756163,"variant_haplotypes":"rs7294","gene":"VKORC1","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"yes","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\" rs7294 remained significantly associated with warfarin maintenance dose in the multivariate analysis.","sentence":"Allele T is associated with increased dose of warfarin in people with heart valve replacement as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2911553","article_title":"CYP4F2 rs2108622: a minor significant genetic factor of warfarin dose in Han Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC2911553.md","variant_annotation_id":981483967,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":20653676,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"3.2 mg/day vs. 2.9 mg/day. There were only 15 TT patients.","sentence":"Genotypes CT + TT are associated with increased dose of warfarin in people with mechanical heart valve replacement as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:mechanical heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3786668","article_title":"Human Polymorphisms in the Glutathione Transferase Zeta 1/Maleylacetoacetate Isomerase Gene Influence the Toxicokinetics of Dichloroacetate","article_path":"articles/PMC3786668.md","variant_annotation_id":827786999,"variant_haplotypes":"rs7975","gene":"GSTZ1, POMT2","drugs":"dichloroacetic acid","pmid":21642471,"phenotype_category":"Toxicity, Metabolism/PK","significance":"no","notes":"The statement above is meant for a haplotype rather than for the allele. For the various possible haplotype combinations involving rs7975,rs7972,rs1046428, the slowest clearance and the highest urinary excretion of unmetabolized C(13)-DCA was observed for a subject homozygous for G for rs7975,G for rs7972, T for rs1046428.","sentence":"Allele G is associated with decreased clearance of dichloroacetic acid in children with Mitochondrial Diseases.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Mitochondrial Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5483245","article_title":"Independent and interactive effects of OPRM1 and DAT1 polymorphisms on alcohol consumption and subjective responses in social drinkers","article_path":"articles/PMC5483245.md","variant_annotation_id":1450826481,"variant_haplotypes":"rs28363170","gene":"SLC6A3","drugs":"ethanol","pmid":28376280,"phenotype_category":"Toxicity","significance":"yes","notes":"This variant is a VNTR; the 'del' allele represented the 9-repeat allele, while the 'GGG...' allele represents the 10-repeat allele. Subjects with the 9-repeat allele had a significantly increased odds ratio for reporting more drinking days compared to subjects carrying the 10-repeat allele. The authors note an epistatic effect, where the presence of the rs1799971 G allele in OPRM1 reduced the effect of the 9-repeat allele on the number of drinking days. There was no significant association between rs28363170 and number of drinks per drinking day or number of heavy drinking days.","sentence":"Allele del is associated with increased exposure to ethanol in healthy individuals as compared to allele GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT","comparison_metabolizer_types":null} +{"pmcid":"PMC11134291","article_title":"Variability in plasma rifampicin concentrations and role of SLCO1B1, ABCB1, AADAC2 and CES2 genotypes in Ethiopian patients with tuberculosis","article_path":"articles/PMC11134291.md","variant_annotation_id":1452376780,"variant_haplotypes":"rs1803155","gene":"AADAC","drugs":"rifampin","pmid":38315168,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"We found a significant association between AADAC c.841G>A genotype and rifampicin Cmax, which was sig-nificantly higher in carriers of the mutant variant allele (A/A, G/A) than in those with wild-type G/G genotype\" \"AADAC c.841GG and ABCB1 c.4036A>GAA genotype groups and male patients had a higher risk of low rifampicin plasma exposure than females.\"","sentence":"Genotype GG is associated with decreased exposure to rifampin in people with Tuberculosis as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359100,"variant_haplotypes":"rs1611114","gene":"DBH","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele T is not associated with response to heroin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4694426","article_title":"Relationships of related genetic polymorphisms and individualized medication of tacrolimus in patients with renal transplantation","article_path":"articles/PMC4694426.md","variant_annotation_id":1447946634,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":26770526,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP3A5*3 was positively correlated with tacrolimus dose-adjusted trough concentrations (C/D). In multiple regression analysis, the factors with statistical significance toward C/D were CYP3A5*3, hematocrit and albumin. CYP3A5*3 explained 23.5% of individual variations in C/D, followed by hematocrit (3.3%) and albumin (1.5%).","sentence":"CYP3A5 *3 is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375622,"variant_haplotypes":"rs2725215","gene":"PKD2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele T is associated with decreased response to allopurinol as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2709885","article_title":"Genetic variation of CYP2C19 affects both pharmacokinetic and pharmacodynamic responses to clopidogrel but not prasugrel in aspirin-treated patients with coronary artery disease","article_path":"articles/PMC2709885.md","variant_annotation_id":1184469950,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*8, CYP2C19*17","gene":"CYP2C19","drugs":"prasugrel","pmid":19429918,"phenotype_category":"Efficacy, Metabolism/PK","significance":"no","notes":"VASP platelet reactivity index and VerifyNow(TM) P2Y12 reaction unit values were not significantly different in PM than in EM patients. Patients were also treated with aspirin. There were 35 EM (by genotype) and 15 PM (by genotype). Dosage was 600 mg loading/75 mg maintenance.","sentence":"CYP2C19 *1/*2 + *1/*8 + *2/*2 (assigned as poor metabolizer phenotype) is not associated with response to prasugrel in people with Coronary Artery Disease as compared to CYP2C19 *1/*1 + *1/*17 + *17/*17 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*8 + *2/*2","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17 + *17/*17","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC11668066","article_title":"Associations Between the Polymorphisms in the Coding Sequence of SLCO1B1 and Blood Lipid Levels Before and After Treatment by Atorvastatin in the Chinese Han Adults with Dyslipidemia","article_path":"articles/PMC11668066.md","variant_annotation_id":1452798260,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"atorvastatin","pmid":39720770,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The effects of different genotypes of rs2306283 on the normalized differences in TC and TG levels before and after treatment were assessed after adjusting for other factors, with results shown in Figure 4. As shown in Figure 4, the therapeutic effect was worse in individuals with the rs2306283 GG genotype compared to those with the AA genotype in terms of TC and TG reduction.\"","sentence":"Genotype GG is associated with decreased clinical benefit to atorvastatin in people with Hyperlipidemias as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hyperlipidemias","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449716014,"variant_haplotypes":"rs3845744","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271267,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"no","notes":"Response defined by changes in the rate of dropout from treatment between genotypes. Subsequent pairwise analysis resulted in a nominally significant association for the GG genotype compared to the AA genotype in the methadone group and the total cohort, but not in the buprenorphine group.","sentence":"Genotype AA is not associated with response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10810687","article_title":"Association of Pharmacogenetic Markers With Atazanavir Exposure in HIV-Infected Women","article_path":"articles/PMC10810687.md","variant_annotation_id":1451111080,"variant_haplotypes":"rs73208473","gene":"SORCS2","drugs":"atazanavir","pmid":31562781,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant had a statistically significant association with decrease in atazanavir exposure in plasma in African American (AA) participants (fold effect:0.54). The median oral clearances in AA participants\u2019 homozygous and heterozygous for the reference allele of rs73208473 were 8.73 and 14.3 L/hour, respectively.","sentence":"Allele A is associated with decreased exposure to atazanavir in women with HIV Infections as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6987567","article_title":"The effect of the OPRM1 and DRD4 polymorphisms on the relation between attentional bias and alcohol use in adolescence and young adulthood","article_path":"articles/PMC6987567.md","variant_annotation_id":1450814162,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":22436571,"phenotype_category":"Dosage","significance":"yes","notes":"The G allele was significantly associated with increased frequency and quantity of alcohol use in adolescents.","sentence":"Allele G is associated with increased dose of ethanol in children as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4833150","article_title":"Genetic markers in CYP2C19 and CYP2B6 for prediction of cyclophosphamide's 4\u2010hydroxylation, efficacy and side effects in Chinese patients with systemic lupus erythematosus","article_path":"articles/PMC4833150.md","variant_annotation_id":1446907896,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"cyclophosphamide","pmid":26456622,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with metabolism of cyclophosphamide in people with as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491516,"variant_haplotypes":"rs4551053","gene":"EBF1","drugs":"hydrochlorothiazide","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Proxy for rs11953630. Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in systolic blood pressure (SBP) and diastolic blood pressure (DBP) after 9 weeks of treatment.","sentence":"Allele G is not associated with response to hydrochlorothiazide in people with Hypertension as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162909,"variant_haplotypes":"rs1524107","gene":"IL6","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. Authors described association as suggestive in the EA population but it did not survive multiple testing correction. Direction of effect not stated. This is a proxy for rs1800796.","sentence":"Allele C is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3865618","article_title":"Association of Genetic Polymorphisms with Warfarin Dose Requirements in Chinese Patients","article_path":"articles/PMC3865618.md","variant_annotation_id":1184482810,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":23941071,"phenotype_category":"Dosage","significance":"yes","notes":"\"The mean warfarin dose in patients with the CYP2C9 rs1057910AA genotype was 3.34 mg/day, which was higher than that in patients with the CYP2C9 rs1057910CC genotype (0.81 mg/day).\"","sentence":"Genotypes AA + AC is associated with increased dose of warfarin as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC2751283","article_title":"CYP2D6 Genotyping as an alternative to phenotyping for determination of metabolic status in a clinical trial setting","article_path":"articles/PMC2751283.md","variant_annotation_id":1183629560,"variant_haplotypes":"CYP2D6*4, CYP2D6*6","gene":"CYP2D6","drugs":"debrisoquine, dextromethorphan","pmid":11741249,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Out of 558 subjects previously phenotyped for clinical studies and genotyped for this study, 46 PM were found. 2 of these 46 were *4/*6.","sentence":"CYP2D6 *4/*6 is associated with decreased metabolism of debrisoquine or dextromethorphan.","alleles":"*4/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC9701885","article_title":"Association between rs1799971 in the mu opioid receptor gene and methadone maintenance treatment response","article_path":"articles/PMC9701885.md","variant_annotation_id":1451927260,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"methadone","pmid":36305091,"phenotype_category":"Efficacy","significance":"no","notes":"not significant in any model (recessive/dominant/additive/allelic) in primary study nor in meta-analysis.","sentence":"Allele A is not associated with increased clinical benefit to methadone in people with Heroin Dependence as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5079351","article_title":"The use of ivacaftor in CFTR mutations resulting in residual functioning protein","article_path":"articles/PMC5079351.md","variant_annotation_id":1448423827,"variant_haplotypes":"rs77932196","gene":"CFTR","drugs":"ivacaftor","pmid":27812499,"phenotype_category":"Efficacy","significance":"yes","notes":"Investigation of ivacaftor treatment in patients with CFTR variants conferring residual CFTR function, comparing patients with ivacaftor treatment to those without. Genotypes of the patients receiving ivacaftor were R347P/L1065P, 2789+5G/R1066C, S912X/D579G, S912X/D579G, del F508/R352Q, G542X/D1152H, and W1282W/D1152H. The outcomes measured were FEV1 %predicted, increase in BMI, CFQ-R, and number of exacerbations.","sentence":"Allele A is associated with increased response to ivacaftor in people with Cystic Fibrosis as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5266160","article_title":"Clinical and genetic factors associated with warfarin maintenance dose in northern Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC5266160.md","variant_annotation_id":1448567661,"variant_haplotypes":"rs7412","gene":"APOE","drugs":"warfarin","pmid":28079798,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype CC is associated with decreased dose of warfarin in people with heart valve replacement as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC2599947","article_title":"ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence","article_path":"articles/PMC2599947.md","variant_annotation_id":1450811607,"variant_haplotypes":"rs2032583","gene":"ABCB1","drugs":"methadone","pmid":18424454,"phenotype_category":"Dosage","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. Alleles were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone.","sentence":"Allele G is not associated with dose of methadone in people with Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3865618","article_title":"Association of Genetic Polymorphisms with Warfarin Dose Requirements in Chinese Patients","article_path":"articles/PMC3865618.md","variant_annotation_id":1184482814,"variant_haplotypes":"rs699664","gene":"GGCX","drugs":"warfarin","pmid":23941071,"phenotype_category":"Dosage","significance":"yes","notes":"The mean warfarin dose in patients with the GGCX rs699664 TT genotype was 3.51mg/day, which was higher than that in patients with the GGCX rs699664 CC genotype (3.09 mg/day).","sentence":"Genotypes CT + TT is associated with increased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC8106923","article_title":"Weight-loss response to naltrexone/bupropion is modulated by the Taq1A genetic variant near DRD2 (rs1800497): A pilot study","article_path":"articles/PMC8106923.md","variant_annotation_id":1451566720,"variant_haplotypes":"rs1800497","gene":"ANKK1, DRD2","drugs":"bupropion, naltrexone","pmid":33236485,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with a baseline body mass index (BMI) of 27-45 were recruited. Those carrying the A allele had a greater mean weight-loss percentage and were more likely to be classed as responders to buproprion/naltrexone.","sentence":"Genotypes AA + AG are associated with increased response to bupropion and naltrexone in people with Obesity as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Obesity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6423619","article_title":"Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19","article_path":"articles/PMC6423619.md","variant_annotation_id":1450935701,"variant_haplotypes":"rs761895497","gene":"CYP2C9","drugs":"tolbutamide","pmid":30745309,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In vitro analysis showed that intrinsic clearance of tolbutamide by CYP2C9 protein containing the C allele was 43.6% of that of the WT protein. Variant referred to as 791T>C in the paper.","sentence":"Allele C is associated with decreased clearance of tolbutamide as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4243881","article_title":"Effect of UGT1A1, UGT1A3, DIO1 and DIO2 polymorphisms on L-thyroxine doses required for TSH suppression in patients with differentiated thyroid cancer","article_path":"articles/PMC4243881.md","variant_annotation_id":1184990082,"variant_haplotypes":"rs11206244","gene":"DIO1","drugs":"levothyroxine","pmid":24910925,"phenotype_category":"Dosage","significance":"no","notes":"This SNP was not associated with dose in univariate regression.","sentence":"Allele T is not associated with dose of levothyroxine in people with Thyroid Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Thyroid tumor","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3425006","article_title":"The C Allele of ATM rs11212617 Does Not Associate With Metformin Response in the Diabetes Prevention Program","article_path":"articles/PMC3425006.md","variant_annotation_id":978614975,"variant_haplotypes":"rs11212617","gene":"C11orf65","drugs":"metformin","pmid":22751958,"phenotype_category":"Efficacy, Metabolism/PK","significance":"no","notes":"in people with impaired glucose tolerance. No significant differences found in metformin's effects on insulin sensitivity, fasting glucose,glycated hemoglobin or disposition index.","sentence":"Allele C is not associated with increased response to metformin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4160394","article_title":"CYP3A4*22 and CYP3A5*3 are associated with increased levels of plasma simvastatin concentrations in the cholesterol and pharmacogenetics study cohort","article_path":"articles/PMC4160394.md","variant_annotation_id":1184746928,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"simvastatin","pmid":25051018,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP3A4*22 carriers had 170% higher concentrations of simvastatin lactone than did; noncarriers (P< 0.01), but no significant difference was; detected for concentrations of simvastatin acid.","sentence":"CYP3A4 *1/*22 + *22/*22 is associated with concentrations of simvastatin as compared to CYP3A4 *1/*1.","alleles":"*1/*22 + *22/*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4343187","article_title":"CHRNA4 rs1044396 is associated with smoking cessation in varenicline therapy","article_path":"articles/PMC4343187.md","variant_annotation_id":1445402071,"variant_haplotypes":"rs1044396","gene":"CHRNA4","drugs":"varenicline","pmid":25774163,"phenotype_category":"Efficacy","significance":"yes","notes":"CC genotype had lower success rate when in treatment with varenicline (29.5%) compared with patients with CT or TT genotypes.","sentence":"Genotype GG is associated with decreased response to varenicline in people with Tobacco Use Disorder as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4229256","article_title":"IL28B Polymorphism Cannot Predict Response to Interferon Alpha Treatment in Patients with Melanoma","article_path":"articles/PMC4229256.md","variant_annotation_id":1444665914,"variant_haplotypes":"rs12979860","gene":"IFNL3","drugs":"interferon alfa-2b, recombinant","pmid":25389973,"phenotype_category":"Efficacy","significance":"no","notes":"The CC genotype at rs12979860 was not associated with either overall or progression free survival (PFS).","sentence":"Genotype CC is not associated with response to interferon alfa-2b, recombinant in people with Melanoma as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Melanoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954065,"variant_haplotypes":"rs228729","gene":"PER3","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4833149","article_title":"The pharmacokinetic and pharmacodynamic interaction of clopidogrel and cilostazol in relation to CYP2C19 and CYP3A5 genotypes","article_path":"articles/PMC4833149.md","variant_annotation_id":1446907223,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"clopidogrel","pmid":26426352,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"either when clopidogrel was administered alone or in combination with cilostazole. The authors observed no differences in AUC (ng*hr/ml) or Cmax (ng/ml) values of clopidogrel thiol metabolite when comparing within the same metabolizer group [extensive (CYP2C19 *1/*1), intermediate (CYP2C19 *1/*2, *1/*3), and poor (CYP2C19 *2/*2, *2/*3, *3/*3)] but between treatment groups. Differences in clopidogrel thiol metabolite concentrations were only observed when comparing between CYP2C19 metabolizer groups.","sentence":"CYP2C19 *2 + *3 are associated with decreased metabolism of clopidogrel in healthy individuals as compared to CYP2C19 *1.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4265416","article_title":"Haplotypes of P2RX7 gene polymorphisms are associated with both cold pain sensitivity and analgesic effect of fentanyl","article_path":"articles/PMC4265416.md","variant_annotation_id":1450821476,"variant_haplotypes":"rs1718136","gene":"P2RX7","drugs":"fentanyl","pmid":25472448,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and 24-h postoperative fentanyl use or perioperative fentanyl use.","sentence":"Allele G is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC10778798","article_title":"Serum Calretinin and Genetic Variability as a Prognostic and Predictive Factor in Malignant Mesothelioma","article_path":"articles/PMC10778798.md","variant_annotation_id":1452353300,"variant_haplotypes":"rs3807348","gene":"MIR335","drugs":"cisplatin","pmid":38203360,"phenotype_category":"Efficacy","significance":"yes","notes":"\"When analyzing the effect of selected polymorphisms on the treatment response rate (Table 4), carriers of at least one MIR335 rs3807348 polymorphic allele had a significantly better response (OR = 2.41, 95% CI = 1.19\u20134.87, p = 0.015), even after adjusting for clinical factors (OR = 2.69, 95% CI = 1.17\u20136.18, p = 0.020).\"","sentence":"Genotypes AA + AG is associated with increased response to cisplatin in people with Mesothelioma as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Mesothelioma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757070,"variant_haplotypes":"rs12065184","gene":"MPZ","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele C is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4484512","article_title":"Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis","article_path":"articles/PMC4484512.md","variant_annotation_id":1449192125,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"lumacaftor","pmid":26137539,"phenotype_category":"Efficacy","significance":"yes","notes":"F508del allele. Study carried out using primary bronchial epithelial cells from donors with cystic fibrosis. Secretion of chloride ions across the cell membrane was measured to determine CFTR activity.","sentence":"Genotype del/del is associated with response to lumacaftor.","alleles":"del/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038004,"variant_haplotypes":"rs1263177","gene":"APOA4","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.","sentence":"Genotypes CC + CT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4976849","article_title":"Folate metabolic pathway single nucleotide polymorphisms: a predictive pharmacogenetic marker of methotrexate response in Indian (Asian) patients with rheumatoid arthritis","article_path":"articles/PMC4976849.md","variant_annotation_id":1447674471,"variant_haplotypes":"rs1801131","gene":"MTHFR","drugs":"methotrexate","pmid":26616421,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes GT + TT is associated with increased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5287983","article_title":"Patients with CYP3A4\u22171G genetic polymorphism consumed significantly lower amount of sufentanil in general anesthesia during lung resection","article_path":"articles/PMC5287983.md","variant_annotation_id":1449716717,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"sufentanil","pmid":28121959,"phenotype_category":"Dosage","significance":"no","notes":"The publication reports the finding for CYP3A4*1G. PharmVar re-assigned CYP3A4*1G to CYP3A4*36. Previously, this annotation used CYP3A4*36 which has been retired by PharmVar. All references to *36 have been replaced by rs2242480 alleles.","sentence":"Genotypes C/T + T/T is associated with decreased dose of sufentanil in people with Pain, Postoperative as compared to genotype C/C.","alleles":"C/T + T/T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C/C","comparison_metabolizer_types":null} +{"pmcid":"PMC6171340","article_title":"Pharmacogenetics of Antiepileptic Drug Efficacy in Childhood Absence Epilepsy","article_path":"articles/PMC6171340.md","variant_annotation_id":1451134105,"variant_haplotypes":"rs2753326","gene":"CACNA1H","drugs":"lamotrigine","pmid":28165634,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by minor allele frequency in not\u2013seizure\u2010free vs seizure-free children. Authors do not specify which allele is minor allele but state \"Two synonymous CACNA1H variants, located essentially next to each other (rs2753326 and rs2753325), were associated with greater seizure freedom in the lamotrigine group. Both have global minor allele frequency reported as 0.29 compared to 0.36 in the lamotrigine cohort.\" This does not seem to match with frequencies in Table 2. Assumed minor allele as same as dbSNP which was A and major allele as G.","sentence":"Allele A is associated with increased clinical benefit to lamotrigine in children with Epilepsy as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Efficacy:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC1884261","article_title":"Disposition of debrisoquine and nortriptyline in Korean subjects in relation to CYP2D6 genotypes, and comparison with Caucasians","article_path":"articles/PMC1884261.md","variant_annotation_id":1446899759,"variant_haplotypes":"CYP2D6*1, CYP2D6*10","gene":"CYP2D6","drugs":"nortriptyline","pmid":12814461,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was a difference found between AUC (0-8) of 4-hydroxydebrisoquine, which was significantly lower in *1/*10 than in *1/*1, but no other differences were found for debrisoquine and none were found for nortriptyline in this sample.","sentence":"CYP2D6 *1/*10 is not associated with decreased metabolism of nortriptyline in healthy individuals as compared to CYP2D6 *1/*1.","alleles":"*1/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5057355","article_title":"Impact of cytochrome P450 2C19 polymorphisms on the pharmacokinetics of tacrolimus when coadministered with voriconazole","article_path":"articles/PMC5057355.md","variant_annotation_id":1447672698,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"voriconazole","pmid":26239045,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The maximum plasma concentration (Cmax) and area under the plasma concentration time curve from 0 to 12 hours (AUC0-12) was higher in poor metabolizers (*2/*2 n=2; *2/*3 n=3; *3/*3 n=1) as compared to extensive metabolizers (*1/*1 n=6).","sentence":"CYP2C19 *2/*2 + *2/*3 + *3/*3 is associated with increased concentrations of voriconazole in healthy individuals as compared to CYP2C19 *1/*1.","alleles":"*2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4737107","article_title":"Thiopurine dose intensity and treatment outcome in childhood lymphoblastic leukaemia: the influence of thiopurine methyltransferase pharmacogenetics","article_path":"articles/PMC4737107.md","variant_annotation_id":1353450854,"variant_haplotypes":"TPMT*1, TPMT*3A","gene":"TPMT","drugs":"mercaptopurine, thioguanine","pmid":25441457,"phenotype_category":"Dosage","significance":"yes","notes":"As compared to those with the wild-type genotype (*1/*1), those patients with the *1/*3A genotype had a 1) a lower average dose (70.1% vs 78.0%, where dose given as the % of standard protocol dose), 2) a greater percentage of time spent at no dose (21.3% vs 15.5%) and 3) a smaller percentage of time where the dose was escalated (1.5% vs 5.8%).","sentence":"TPMT *1/*3A is associated with decreased dose of mercaptopurine or thioguanine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT *1/*1.","alleles":"*1/*3A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359481,"variant_haplotypes":"rs10064525","gene":"SLC6A3","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of methadone in people with Heroin Dependence as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6714673","article_title":"Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients","article_path":"articles/PMC6714673.md","variant_annotation_id":1449246784,"variant_haplotypes":"rs1051740","gene":"EPHX1","drugs":"warfarin","pmid":28049362,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of warfarin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1448522297,"variant_haplotypes":"rs1695","gene":"GSTP1","drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896173,"variant_haplotypes":"rs7485210","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele C is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121685,"variant_haplotypes":"rs165599","gene":"COMT","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test, subjective effects of oxycodone.","sentence":"Allele A is not associated with response to oxycodone as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4513254","article_title":"Race influences warfarin dose changes associated with genetic factors","article_path":"articles/PMC4513254.md","variant_annotation_id":1445296737,"variant_haplotypes":"CYP2C9*1, CYP2C9*5, CYP2C9*6, CYP2C9*11","gene":"CYP2C9","drugs":"warfarin","pmid":26024874,"phenotype_category":"Dosage","significance":"yes","notes":"in African Americans.","sentence":"CYP2C9 *5 + *6 + *11 are associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*5 + *6 + *11","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002474,"variant_haplotypes":"rs17431184","gene":"PTEN","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"not stated","notes":"pfSNP identified 2800 SNPS associated with key-words: 5-FU, capecitabine and oxilaplatin and colorectal cancer. Various criteria were used to determine 1536 SNPs to genotype. These SNPs were genotyped in a discovery cohort (N=62) and tested in a validation cohort (N=27). Both cohorts consisted of patients with colorectal cancer metastasis in liver. Five SNPs (rs2289310 G>T; rs1047840 G>A; rs17431184 T>C; rs17160359 G>T; rs2236722 A>G) were identified as distinguishing the \"non-responder\" phenotype from the \"responder\" phenotype when using a logistic regression multivariate model. The AUC for the receiver operating characteristic curve of the 5 SNPs is 0.875. This logistic-based multivariate model is said to be able to identify 39.1% of non-responders.","sentence":"Allele C is associated with increased response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767291,"variant_haplotypes":"rs3002143","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele C is not associated with trough concentration of vancomycin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5903239","article_title":"Developmental pharmacogenetics of CYP2C19 in neonates and young infants: omeprazole as a probe drug","article_path":"articles/PMC5903239.md","variant_annotation_id":1449166382,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"omeprazole","pmid":29377228,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors referred to the \"ABCB1 C3435T genotype\" as the most important covariate influencing the absorption rate constant (Ka) and that their \"Model-predicted Ka is 6.93 times higher in ABCB1 homozygous mutant patients, 1.86 times higher in ABCB1 heterozygous patients than that in ABCB1 homozygous wild-type patients.\" This is taken to mean that the higher Ka is for the TT and CT genotypes as compared to the CC genotypes. Complementing alleles back to the complement on the + strand means that the higher Ka is for the AA and AG genotypes as compared to the GG genotypes.","sentence":"Genotypes AA + AG are associated with increased concentrations of omeprazole in infants with Gastroesophageal Reflux as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in infants with","population_phenotypes_or_diseases":"Disease:Gastroesophageal Reflux","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2630264","article_title":"The largest prospective warfarin-treated cohort supports genetic forecasting","article_path":"articles/PMC2630264.md","variant_annotation_id":1183701155,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":18574025,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP explained 29% (P = 1.03 x 10(-97)) of the variation in warfarin dose.","sentence":"Allele T is associated with decreased dose of warfarin.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6370172","article_title":"Correlation of CYP2C19 genotype with plasma voriconazole exposure in South-western Chinese Han patients with invasive fungal infections","article_path":"articles/PMC6370172.md","variant_annotation_id":1450372533,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"voriconazole","pmid":30653146,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients who were poor metabolizers (*2/*2 or *2/*3) had increased trough concentrations (C0) and dose-adjusted trough concentrations (C0/D) as compared to those who were normal metabolizers (*1/*1). Significant results were also seen for C0/D when *2/*2 individually was compared against *1/*1; no significant results were seen for C0.","sentence":"CYP2C19 *2/*2 + *2/*3 is associated with decreased metabolism of voriconazole in people with as compared to CYP2C19 *1/*1.","alleles":"*2/*2 + *2/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3598593","article_title":"Effect of Fenofibrate Therapy and ABCA1 Polymorphisms on High Density Lipoprotein Subclasses in the Genetics of Lipid Lowering Drugs and Diet Network","article_path":"articles/PMC3598593.md","variant_annotation_id":982044812,"variant_haplotypes":"rs2230806","gene":"ABCA1","drugs":"fenofibrate","pmid":20346718,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CT genotype had a greater small high-density lipoprotein (HDL) particle concentration (units = umol/L) after fenofibrate treatment for 3 weeks, as compared to patients with the CC genotype.","sentence":"Genotype CT is associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6587209","article_title":"The N680S variant in the follicle-stimulating hormone receptor gene identifies hyperresponders to controlled ovarian stimulation","article_path":"articles/PMC6587209.md","variant_annotation_id":1450372589,"variant_haplotypes":"rs6166","gene":"FSHR","drugs":"follitropin beta, urofollitropin","pmid":30829738,"phenotype_category":"Toxicity","significance":"not stated","notes":"The ovarian hyperstimulation syndrome incidence was 6% (36 cases): 13 with the AA and 23 with the AG and no cases with the GG genotype. The N680S polymorphism was associated with ovarian hyperstimulation syndrome (Ptrend = 0.004 and Pallele = 0.038), with carriers of asparagine having an odds ratio for ovarian hyperstimulation syndrome of 1.7, 95% confidence interval: 1.0\u20132.8, P = 0.04, in comparison with carriers of serine.","sentence":"Allele T is associated with increased response to follitropin beta or urofollitropin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550226,"variant_haplotypes":"rs7341475","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele A is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7115946","article_title":"Population pharmacokinetics of Daunorubicin in adult patients with acute myeloid leukemia","article_path":"articles/PMC7115946.md","variant_annotation_id":1448635343,"variant_haplotypes":"rs25678","gene":"CBR1","drugs":"daunorubicin","pmid":27738808,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as measured by lower AUC of daunorubicin. Patients who achieved complete remission (CR) had significantly lower plasma Daunorubicin AUC, but relationship of variant and clinical outcome was not tested.","sentence":"Genotype CC is associated with decreased exposure to daunorubicin in people with Leukemia, Myeloid, Acute as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4631185","article_title":"Effect of carboxylesterase 1 c.428G\u2009>\u2009A single nucleotide variation on the pharmacokinetics of quinapril and enalapril","article_path":"articles/PMC4631185.md","variant_annotation_id":1446899416,"variant_haplotypes":"rs71647871","gene":"CES1","drugs":"enalapril","pmid":25919042,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This was a fixed-order crossover study with two phases: following overnight fasting participants took a 10 mg dose of quinapril and, after a washout period of at least 1 week, a 10 mg dose of enalapril with 150 ml water in the morning and EDTA-prepared blood samples were drawn before and up to 24 hr, and up to 48 h after ingestion for the determination of the concentrations of quinapril and its metabolite quinaprilat, as well as enalapril and its metabolite enalaprilat. Urine was collected up to 12 h after quinapril and enalapril. Only AUC (0-infinity) and amount excreted in urine of enalaprilat were significantly different between genotype groups. Other PK parameters that were tested and not significantly different were Cmax, Tmax, T(1/2), and renal clearance.","sentence":"Genotype CT is associated with decreased metabolism of enalapril in healthy individuals as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5562097","article_title":"Race, Gender, and Genetic Polymorphism Contribute to Variability in Acetaminophen Pharmacokinetics, Metabolism, and Protein-Adduct Concentrations in Healthy African-American and European-American Volunteers","article_path":"articles/PMC5562097.md","variant_annotation_id":1448639975,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"acetaminophen","pmid":28663312,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with metabolism of acetaminophen in healthy individuals as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC9328121","article_title":"Analysis of Genetic and Clinical Factors Associated with Buprenorphine Response","article_path":"articles/PMC9328121.md","variant_annotation_id":1451647610,"variant_haplotypes":"rs7205113","gene":null,"drugs":"buprenorphine","pmid":34488071,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors note that this association is nominally significant.","sentence":"Allele T is associated with increased response to buprenorphine in people with Opioid-Related Disorders as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438308,"variant_haplotypes":"rs7282679","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 5E-9. This variant was in linkage disequilibrium with rs2829679.","sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449558056,"variant_haplotypes":"rs2847153","gene":"TYMS","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4034115","article_title":"Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders","article_path":"articles/PMC4034115.md","variant_annotation_id":1184510511,"variant_haplotypes":"rs5326","gene":"DRD1","drugs":"methylphenidate","pmid":23856854,"phenotype_category":"Efficacy","significance":"yes","notes":"Positive response defined as Clinical Global Impression-Improvement (CGI-I) rating of 'much improved' or 'very much improved', and decrease in Aberrant Behavior Checklist-Hyperactivity subscale of >25% from baseline. This result was not significant when considering correction for multiple testing (p<0.002). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are associated with increased response to methylphenidate in children with Autism Spectrum Disorder as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Autism Spectrum Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3539557","article_title":"Variation in KCNQ1 is associated with therapeutic response to sulphonylureas","article_path":"articles/PMC3539557.md","variant_annotation_id":1452875160,"variant_haplotypes":"rs163184","gene":"KCNQ1","drugs":"gliclazide, glimepiride, glipizide, glyburide","pmid":21709633,"phenotype_category":"Efficacy","significance":"yes","notes":"\"After sulphonylurea therapy, patients in the TT+TG group achieved significantly lower FPG levels in comparison with patients with the GG genotype (6.95\u00b10.13 vs. 7.50\u00b10.21 mmol/L, p=0.033). Consequently, \u0394FPG was significantly higher in the TT+TG group compared to the GG group (1.58\u00b10.13 vs. 1.04\u00b10.18 mmol/L, p=0.016) (Table 3).\"","sentence":"Genotypes GT + TT is associated with increased clinical benefit to gliclazide, glimepiride, glipizide or glyburide in people with Diabetes Mellitus, Type 2 as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC9532634","article_title":"Effect of CYP3A4 and PPARA polymorphism on concentration-to-dose ratio and adverse effects of tacrolimus in Pakistani liver transplant recipients","article_path":"articles/PMC9532634.md","variant_annotation_id":1451920120,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"tacrolimus","pmid":36246675,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented to plus chromosomal strand. Difference was seen at week 1 and 2 but not 3 and 4.","sentence":"Genotypes AA + AG is associated with increased concentrations of tacrolimus in people with liver transplantation as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511092,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of AA, AC and CC did not influence donepezil clearance in a covariate model. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype CC is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype AA.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC7221122","article_title":"Possible Genetic Determinants of Response to Phenytoin in a Group of Colombian Patients With Epilepsy","article_path":"articles/PMC7221122.md","variant_annotation_id":1451151724,"variant_haplotypes":"rs3812718","gene":"SCN1A","drugs":"phenytoin","pmid":32457604,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between the variant and the number of patients with drug-resistant epilepsy. Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is not associated with resistance to phenytoin in people with Epilepsy as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7375952","article_title":"Genetic variants in CYP2A6 and UGT1A9 genes associated with urinary nicotine metabolites in young Mexican smokers","article_path":"articles/PMC7375952.md","variant_annotation_id":1451409603,"variant_haplotypes":"CYP2A6*1, CYP2A6*12","gene":"CYP2A6","drugs":"3-hydroxycotinine","pmid":31959879,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2A6 *1/*12 is associated with decreased concentrations of 3-hydroxycotinine as compared to CYP2A6 *1/*1.","alleles":"*1/*12","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC10769478","article_title":"The role of IL10 and IL17 gene polymorphisms in treatment response in children and adolescents with severe asthma","article_path":"articles/PMC10769478.md","variant_annotation_id":1452358628,"variant_haplotypes":"rs3024498","gene":"IL10","drugs":"budesonide, fluticasone/salmeterol, formoterol, omalizumab","pmid":38232251,"phenotype_category":"Efficacy","significance":"yes","notes":"\"As can be seen in Table 3, patients with at least one rs3024498 C allele in the IL10 gene were found to be at a greater risk of having uncontrolled asthma despite regular treatment. \" \"Some patients were using dry-powder inhalers that delivered a combination of budesonide and formoterol, whereas others were using pressurized metered-dose inhalers that delivered a combination of fluticasone and salmeterol or omalizumab only\"","sentence":"Genotypes CC + CT is associated with decreased clinical benefit to budesonide, fluticasone/salmeterol, formoterol or omalizumab in children with Asthma as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC11016593","article_title":"Effects of Genetic Polymorphisms of Drug Metabolizing Enzymes and co-Medications on Tamoxifen Metabolism in Black South African Women with Breast Cancer","article_path":"articles/PMC11016593.md","variant_annotation_id":1452073007,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*17, CYP2D6*29","gene":"CYP2D6","drugs":"endoxifen","pmid":37042388,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in patients treated with tamoxifen.","sentence":"CYP2D6 *17/*29 + *17/*17 (assigned as poor metabolizer phenotype) is associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*1 + *1/*2 + *2/*2 (assigned as normal metabolizer phenotype) .","alleles":"*17/*29 + *17/*17","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2 + *2/*2","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3656883","article_title":"Novel Associations of VKORC1 Variants with Higher Acenocoumarol Requirements","article_path":"articles/PMC3656883.md","variant_annotation_id":1185002340,"variant_haplotypes":"rs61742245","gene":"VKORC1","drugs":"acenocoumarol","pmid":23691226,"phenotype_category":"Dosage","significance":"yes","notes":"22 mg/week carriers vs 14 mg/week non-carriers.","sentence":"Genotypes AA + AC is associated with increased dose of acenocoumarol as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983231,"variant_haplotypes":"rs9315310","gene":"NBEA","drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here. Remission considered to be score < or equal to 7 at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele T is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3462355","article_title":"G PROTEIN RECEPTOR KINASE 4 (GRK4) POLYMORPHISMS: BETA-BLOCKER PHARMACOGENETICS AND TREATMENT RELATED OUTCOMES IN HYPERTENSION","article_path":"articles/PMC3462355.md","variant_annotation_id":981345436,"variant_haplotypes":"rs2960306","gene":"GRK4","drugs":"atenolol","pmid":22949529,"phenotype_category":"Efficacy","significance":"yes","notes":"This decrease in response was only significant* when considered as part of a haplotype with rs1024323. The finding was that increasing copies of rs2960306T-rs1024323T haplotype were associated with significantly reduced atenolol-induced diastolic blood pressure lowering (-9.1\u00b16.8 versus -6.8\u00b17.1 versus -5.3\u00b16.4 mm Hg in participants with 0, 1, and 2 copies respectively). Analysis of the SNP alone showed a trend towards decreased response with the T allele. The association of the haplotype was only observed in rs1801253 CC genotypes in Whites.; *= authors state that the data are statistically significant when Bonferroni-corrected for the number of SNPs tested in the analysis but that they do not meet chip-wide Bonferroni-corrected significance.","sentence":"Allele T is associated with decreased response to atenolol in people with Hypertension as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6357360","article_title":"Opioid response in paediatric cancer patients and the Val158Met polymorphism of the human catechol-O-methyltransferase (COMT) gene: an Italian study on 87 cancer children and a systematic review","article_path":"articles/PMC6357360.md","variant_annotation_id":1450933130,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"opioids","pmid":30704436,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the AG genotype had reduced consumption of opioids compared to those with the GG genotype.","sentence":"Genotype AG is associated with decreased dose of opioids in children as compared to genotype GG.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":655388209,"variant_haplotypes":"rs7769719","gene":"PPARD","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with dbSNP, actual base not listed in paper)","sentence":"Allele G is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451673080,"variant_haplotypes":"rs5031016","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. This variant is referred to in the paper as being equivalent to *7 however, this variant is found in multiple CYP2A6 alleles.","sentence":"Allele G is associated with decreased metabolism of nicotine as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756083,"variant_haplotypes":"rs2077737","gene":null,"drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170893,"variant_haplotypes":"CYP3A4 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP3A4","drugs":"N-desmethyltamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A4 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of n-desmethyltamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10483403","article_title":"Genetic polymorphisms are associated with individual susceptibility to dexmedetomidine","article_path":"articles/PMC10483403.md","variant_annotation_id":1452241080,"variant_haplotypes":"rs16934182","gene":"KCNMA1","drugs":"dexmedetomidine","pmid":37693312,"phenotype_category":"Dosage","significance":"yes","notes":"\"In our study, carriers of the minor allele (GA/AA) required less DXM to reach the ideal sedation status than homozygosity for the major allele (GG) (29.16 \u00b1 1.38 vs. 38.23 \u00b1 11.02, p = 0.034). Heterozygosity or homozygosity for the minor allele A) of KCNMA1 rs16934182 was a factor in more sensitizing to DXM sedation.\"","sentence":"Genotypes AA + AG is associated with decreased dose of dexmedetomidine in people with surgery as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:surgery","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4965653","article_title":"Genetic Variations in Attention Deficit Hyperactivity Disorder Subtypes and Treatment Resistant Cases","article_path":"articles/PMC4965653.md","variant_annotation_id":1450376712,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"methylphenidate","pmid":27482244,"phenotype_category":"Efficacy","significance":"no","notes":"Patients underwent the same naturalistic assessment procedure to evaluate the treatment response, which included the reapplication of the CPRS, CTRS, CGI-S, GAS, CPT and TMT A and B. Treatment responders were defined as follows: patients registering 2 points or greater improvement on the CGI-S and a total GAS score of 60 points or greater (out of 108 subjects 66.6% responded to the treatment, while 33.3% did not). No association for distribution of genotypes according to treatment response.","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC9314634","article_title":"The Polymorphic Nuclear Factor NFIB Regulates Hepatic CYP2D6 Expression and Influences Risperidone Metabolism in Psychiatric Patients","article_path":"articles/PMC9314634.md","variant_annotation_id":1451719580,"variant_haplotypes":"rs28379954","gene":"NFIB","drugs":"paliperidone, risperidone","pmid":35253216,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"among CYP2D6 normal metabolizers measuring metabolite-to-parent ratio (MPR) of risperidone and 9-hydroxyrisperidone (paliperidone). No CC were reported.","sentence":"Genotype CT is associated with increased concentrations of paliperidone and risperidone as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4100708","article_title":"Secondary metabolism pathway polymorphisms and plasma efavirenz concentrations in HIV-infected adults with CYP2B6 slow metabolizer genotypes","article_path":"articles/PMC4100708.md","variant_annotation_id":1184467517,"variant_haplotypes":"rs28399433","gene":"CYP2A6","drugs":"efavirenz","pmid":24729586,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As measured by increased plasma concentrations in patients with the AC genotype compared to the CC genotype. One White subject had the C on one allele and a CYP2A6 deletion of the other allele. When this subject was removed from univariate analysis the association with this SNP remained (p=9.4x10-4). *Note: All participants were CYP2B6 slow metabolizers (defined by the following genotypes of two SNPs: rs3745274 TT, or rs3745274 T/rs28399499 C or rs28399499 CC).* Alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is associated with decreased metabolism of efavirenz in people with HIV Infections as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC9536193","article_title":"Germline Polymorphisms as Biomarkers of Tumor Response in Colorectal Cancer Patients Treated with Anti-EGFR Monoclonal Antibodies: A Systematic Review and Meta-Analysis","article_path":"articles/PMC9536193.md","variant_annotation_id":1449165374,"variant_haplotypes":"rs1801274","gene":"FCGR2A","drugs":"cetuximab, panitumumab","pmid":27897268,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis with 15 studies. The authors did not provide the exact number of patients but stated that \"the median number of patients per analysis was 110 (range 50 - 740)\". Most definitions of response were variations of the RECIST criteria. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele G is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC10418744","article_title":"Personalized CFTR Modulator Therapy for G85E and N1303K Homozygous Patients with Cystic Fibrosis","article_path":"articles/PMC10418744.md","variant_annotation_id":1452416586,"variant_haplotypes":"rs75961395","gene":"CFTR","drugs":"elexacaftor / tezacaftor / ivacaftor","pmid":37569738,"phenotype_category":"Efficacy","significance":"not stated","notes":"\"Elexacaftor/tezacaftor/ivacaftor (ETI) therapy improves clinical outcomes in the G85E/G85E patient.\"","sentence":"Genotype AA is associated with increased clinical benefit to elexacaftor / tezacaftor / ivacaftor in people with Cystic Fibrosis.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3292264","article_title":"Exploration of CYP450 and drug transporter genotypes and correlations with nevirapine exposure in Malawians","article_path":"articles/PMC3292264.md","variant_annotation_id":827823670,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"nevirapine","pmid":22111602,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"GT + TT were associated with increased exposure to drug, as measured by increased area under the concentration time curve and decreased apparent oral clearance of the drug. This was not statistically significant after multiple comparison correction, but was significant in a multiple variant model for nevirapine AUC (p=0.0001) [stat_test: linear regression]","sentence":"Genotypes GT + TT are associated with decreased clearance of nevirapine in people with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5538305","article_title":"Impact of CYP2C19 Genotype and Liver Function on Voriconazole Pharmacokinetics in Renal Transplant Recipients","article_path":"articles/PMC5538305.md","variant_annotation_id":1448820856,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":28604474,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Patients who are CYP2C19 extensive metabolizers (EMs, *1/*1) had decreased trough concentrations of voriconazole (Cmin) as compared to intermediate metabolizers (IMs, *1/*2, *1/*3 or *2/*17). However, note that the authors did not specifically state which of these IM genotypes were present in the population. Receiving voriconazole for prevention or treatment of invasive fungal infection (IFI).","sentence":"CYP2C19 *1/*1 is associated with increased metabolism of voriconazole in people with Kidney Transplantation as compared to CYP2C19 *1/*2 + *1/*3 + *2/*17.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*3 + *2/*17","comparison_metabolizer_types":null} +{"pmcid":"PMC9582748","article_title":"Effects of CYP2C19 genetic polymorphisms on the cure rates of H. pylori in patients treated with the proton pump inhibitors: An updated meta-analysis","article_path":"articles/PMC9582748.md","variant_annotation_id":1451927000,"variant_haplotypes":"CYP2C19 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2C19","drugs":"lansoprazole, omeprazole","pmid":36278195,"phenotype_category":"Efficacy","significance":"yes","notes":"in meta-analysis of cure rates of H. pylori in triple therapy.","sentence":"CYP2C19 intermediate metabolizer and poor metabolizer is associated with increased clinical benefit to lansoprazole or omeprazole in people with Helicobacter Infections as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5818817","article_title":"Effect of Genotype-Guided Warfarin Dosing on Clinical Events and Anticoagulation Control Among Patients Undergoing Hip or Knee Arthroplasty: The GIFT Randomized Clinical Trial","article_path":"articles/PMC5818817.md","variant_annotation_id":1449269193,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":28973620,"phenotype_category":"Dosage","significance":"not stated","notes":null,"sentence":"Allele A is associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729097,"variant_haplotypes":"rs9332245","gene":"CYP2C9","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotype AT is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype TT.","alleles":"AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677393,"variant_haplotypes":"rs4646","gene":"CYP19A1","drugs":"hdl cholesterol","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole alone or with lipid lowering agents (LLA), such as statins. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with decreases in HDL-cholesterol of 4.2 mg/dL (SE 1.16).","sentence":"Allele A is associated with decreased concentrations of hdl cholesterol in women with Breast Neoplasms and Menopause as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4669157","article_title":"HLA-G 3\u2019UTR Polymorphisms Impact the Prognosis of Stage II-III CRC Patients in Fluoropyrimidine-Based Treatment","article_path":"articles/PMC4669157.md","variant_annotation_id":1447678763,"variant_haplotypes":"rs1610696","gene":"HLA-G","drugs":"capecitabine, fluorouracil","pmid":26633805,"phenotype_category":"Efficacy","significance":"no","notes":"The authors examined disease free survival (DFS) as well as overall survival (OS). Neither were significantly associated with any genotype.","sentence":"Genotypes CG + GG are not associated with response to capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479884,"variant_haplotypes":"rs2572023","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4356257","article_title":"Translesion Polymerase Genes Polymorphisms and Haplotypes Influence Survival of Osteosarcoma Patients","article_path":"articles/PMC4356257.md","variant_annotation_id":1447675738,"variant_haplotypes":"rs3087386","gene":"REV1","drugs":"cisplatin","pmid":25748439,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP is not associated with event-free survival (p = 0.744) or overall survival (p = 0.189), as determined by recurrence or death. Mean follow-up time was 143 months.","sentence":"Genotypes AA + AG are not associated with increased response to cisplatin in people with Osteosarcoma as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3038469","article_title":"Genetic and nongenetic factors associated with warfarin dose requirements in Egyptian patients","article_path":"articles/PMC3038469.md","variant_annotation_id":827864548,"variant_haplotypes":"rs7900194","gene":"CYP2C9","drugs":"warfarin","pmid":21228733,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP defines CYP2C9*8. CYP2C9 *2,*3,*4,*5,*8 were grouped into three groups for testing: *1/*1 vs. *1/*2 + *1/*3 + *1/*4 + *1/*5 + *1/*8 vs *2/*2 + *2/*3 + *3/*3 + *5/*5. People having one or two variant alleles had lower dose requirements than people who were *1/*1.","sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5562097","article_title":"Race, Gender, and Genetic Polymorphism Contribute to Variability in Acetaminophen Pharmacokinetics, Metabolism, and Protein-Adduct Concentrations in Healthy African-American and European-American Volunteers","article_path":"articles/PMC5562097.md","variant_annotation_id":1448639969,"variant_haplotypes":"rs8330","gene":"UGT1A","drugs":"acetaminophen","pmid":28663312,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with metabolism of acetaminophen in healthy individuals as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3622803","article_title":"Genetic Variation in BDNF is Associated with Antipsychotic Treatment Resistance in Patients with Schizophrenia","article_path":"articles/PMC3622803.md","variant_annotation_id":1183697782,"variant_haplotypes":"rs6265","gene":"BDNF","drugs":"antipsychotics","pmid":23433505,"phenotype_category":"Efficacy","significance":"yes","notes":"The T allele is associated with increased odds of resistance to antipsychotic treatment. Resistance was assessed by whether patients were taking clozapine, since clozapine is indicated for patients poorly responsive or resistant to first-line treatments. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT is associated with increased resistance to antipsychotics in people with Schizophrenia as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6472479","article_title":"Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and Phe508del and a Residual Function Mutation","article_path":"articles/PMC6472479.md","variant_annotation_id":1449154713,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor","pmid":29099333,"phenotype_category":"Efficacy","significance":"yes","notes":"This trial was designed to evaluate the efficacy and safety of tezacaftor with ivacaftor, ivacaftor monotherapy, or placebo. It is a phase 3, randomized, multicenter, double-blind, placebo-controlled, two-period, three-intervention crossover trial (NCT02392234). Patients were 12 years of age or older with cystic fibrosis (CF) and were heterozygous for the Phe508del CFTR mutation and a second allele with a CFTR mutation with residual function as assessed by in vitro studies. Each patient received two of the three regimens (tezacaftor with ivacaftor, ivacaftor monotherapy, or placebo).","sentence":"Genotype CTT/del is associated with increased response to ivacaftor in people with Cystic Fibrosis.","alleles":"CTT/del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC8917764","article_title":"A single low dose of primaquine is safe and sufficient to reduce transmission of Plasmodium falciparum gametocytes regardless of cytochrome P450 2D6 enzyme activity in Bagamoyo district, Tanzania","article_path":"articles/PMC8917764.md","variant_annotation_id":1451727780,"variant_haplotypes":"G6PD deficiency","gene":"G6PD","drugs":"primaquine","pmid":35279143,"phenotype_category":"Efficacy","significance":"no","notes":"Authors measured \"two most common polymorphisms associated with G6PD deficiency in Africa i.e., A376G (rs1050829 A\u2009>\u2009G/T\u2009>\u2009C) and G202A (rs1050828 G\u2009>\u2009A/C\u2009>\u2009T) \" and \"The outcomes were classified as follows; For males A was defined as wild-type/normal and A\u2212 as hemizygous/deficient G6PD status, whereas for females A\u2212A\u2212 was defined as homozygous/deficient, AA\u2212 and BA\u2212 as heterozygous/intermediate and AA and BA as wild-type/normal G6PD status\". Hemizygous/homozygous G6PD deficient, n = 20, and G6PD heterozygous female, n = 21. \"none of the patients had parasitaemia on day 3\"","sentence":"G6PD deficiency is not associated with decreased clinical benefit to primaquine in children with Malaria as compared to G6PD non-deficient.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Malaria","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"non-deficient"} +{"pmcid":"PMC5975540","article_title":"Association Between ABCB1 Polymorphism and Stable Warfarin Dose Requirements in Brazilian Patients","article_path":"articles/PMC5975540.md","variant_annotation_id":1449575721,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"warfarin","pmid":29875668,"phenotype_category":"Dosage","significance":"no","notes":"Univariate analysis only. Association was significant in the overall group, and in the self-reported \"non-white\" patients, but not in the self-reported \"white\" patients.","sentence":"Genotype GG is associated with increased dose of warfarin as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5299197","article_title":"Influence of IL-18 and IL-10 Polymorphisms on Tacrolimus Elimination in Chinese Lung Transplant Patients","article_path":"articles/PMC5299197.md","variant_annotation_id":1448603528,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":28246425,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the CC genotype had higher dose-adjusted trough concentrations of tacrolimus at weeks 1 (p=0.005), 2 (p=0.008), 3 (p=0.003) and 4 (p<0.001) post-transplant as compared to those with the CT or TT genotype. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype CC is associated with increased dose-adjusted trough concentrations of tacrolimus in people with lung transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5098919","article_title":"Association of Cytochrome P450 Genetic Variants with Clopidogrel Resistance and Outcomes in Acute Ischemic Stroke","article_path":"articles/PMC5098919.md","variant_annotation_id":1447949708,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"clopidogrel","pmid":26961113,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotypes CT + TT is not associated with resistance to clopidogrel in people with Stroke as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Stroke","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5298887","article_title":"Genome-Wide Prioritization and Transcriptomics Reveal Novel Signatures Associated with Thiazide Diuretics Blood Pressure Response","article_path":"articles/PMC5298887.md","variant_annotation_id":1448568141,"variant_haplotypes":"rs10995","gene":"VASP","drugs":"hydrochlorothiazide","pmid":28115488,"phenotype_category":"Efficacy","significance":"yes","notes":"The rs10995 G-allele was associated with better blood pressure response to hydrochlorothiazide versus noncarriers (delta systolic BP/delta diastolic BP: -12.3/-8.2 versus -6.8/-3.5 mm Hg, respectively, delta systolic BP P=3\u00d710-4, delta diastolic BP P=5\u00d710-5)\". rs10995 G-allele was associated with increased mRNA expression of VASP (vasodilator-stimulated phosphoprotein).","sentence":"Genotypes AG + GG are associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC2647710","article_title":"Association between glucokinase regulatory protein (GCKR) and apolipoprotein A5 (APOA5) gene polymorphisms and triacylglycerol concentrations in fasting, postprandial, and fenofibrate-treated states1","article_path":"articles/PMC2647710.md","variant_annotation_id":982044699,"variant_haplotypes":"rs3135506","gene":"APOA5","drugs":"fenofibrate","pmid":19056598,"phenotype_category":"Efficacy","significance":"not stated","notes":"When combined with rs780094 CT + TT genotypes. This combined genotype group is associated with a greater reduction in triacylglycerol concentrations between baseline and 3 weeks of treatment, as compared to any other genotype combination. Adjusted for baseline triacylglycerol.","sentence":"Genotypes CG + GG are associated with increased response to fenofibrate in people with Hypertriglyceridemia.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438220,"variant_haplotypes":"rs2226443","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 5E-9. This variant was in strong linkage disequilibrium with rs4816969 and rs9305223.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373204,"variant_haplotypes":"rs6902403","gene":"OPRM1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not significantly associated with compliance with methadone maintenance therapy or 'negative rate of morphine urine test'.","sentence":"Allele C is not associated with response to methadone in people with Heroin Dependence as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4456129","article_title":"Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity","article_path":"articles/PMC4456129.md","variant_annotation_id":1444695471,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"methadone","pmid":25556837,"phenotype_category":"Dosage","significance":"no","notes":"Methadone maintenance dose was not associated with genotype of the SNP but it was correlated to the highest dose ever used. Multiple doses versus single dose, body weight, history of cocaine dependence and ethnicity (Asian>Caucasian>African) were independently associated with methadone dose in multiple regression analysis. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele C is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271192,"variant_haplotypes":"CYP2B6 poor metabolizer","gene":"CYP2B6","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"no","notes":"Response defined by changes in the rate of dropout from treatment between metabolizer phenotypes. Study genotyped for the CYP2B6 *1, *4, *6 and *9 alleles and then assigned metabolizer phenotypes.","sentence":"CYP2B6 poor metabolizer is not associated with response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to CYP2B6 intermediate metabolizer and normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} +{"pmcid":"PMC2515139","article_title":"A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose","article_path":"articles/PMC2515139.md","variant_annotation_id":608431778,"variant_haplotypes":"rs216013","gene":"CACNA1C","drugs":"warfarin","pmid":18535201,"phenotype_category":"Dosage","significance":"no","notes":"This intronic variant in the membrane calcium-channel gene CACNA1C was correlated with warfarin dose (p = 9.2 \u00d7 10-5) in the index population (n = 181) from a GWAS study of white patients undergoing anticoagulation therapy. Combined analysis of the index and replication populations (n = 374) yielded a p value of 8.6 \u00d7 10-7. \"However, this variant did not reach established significance threshold independently in the replication population (P = .002), nor did it achieve significance after multiple testing correction in multivariate modeling (uncorrected P = .003)\".","sentence":"Allele A is not associated with dose of warfarin.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038053,"variant_haplotypes":"rs5090","gene":"APOA4","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.","sentence":"Genotype CG is not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype GG.","alleles":"CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862194,"variant_haplotypes":"rs6269","gene":"COMT","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs2075507,rs7287550, rs5746849, rs737866, rs6269, rs740603, rs4818, rs4680, rs174699, rs165728). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here.","sentence":"Allele A is associated with decreased dose of morphine in people with Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811856,"variant_haplotypes":"rs2075572","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. The G allele was associated with increased scores in the dizzy, drunk and nausea traits on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele G is associated with increased response to ethanol as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5411458","article_title":"CYP2D6 Phenotyping Using Urine, Plasma, and Saliva Metabolic Ratios to Assess the Impact of CYP2D6\u221710 on Interindividual Variation in a Chinese Population","article_path":"articles/PMC5411458.md","variant_annotation_id":1448617678,"variant_haplotypes":"CYP2D6*1, CYP2D6*10","gene":"CYP2D6","drugs":"dextromethorphan","pmid":28512430,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Single dose study with 15mg dextromethorphan DM. Urine, Plasma, and Saliva Metabolic Ratios were accessed. Subjects were genotyped by DNA sequencing analysis for CYP2D6*1, *2, *3, *4, *6, *7, *10, *14, *18, *21, *28, *33, *34, *35, *36, *39, *41, *43, *49, *51, *52, *54, *60, *63, *65, *69, *71, and *75 and CNV were determined. *1/*1 n= 22; *10/*10 n=85. The urinary, plasma, or salivary MRs increased successively in subjects with CYP*1/*1, *1/*10, *10/*10, and *5/*10 with statistical significance (all P-values < 0.001).","sentence":"CYP2D6 *10/*10 is associated with decreased metabolism of dextromethorphan in healthy individuals as compared to CYP2D6 *1/*1.","alleles":"*10/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6046506","article_title":"Population pharmacokinetics of tacrolimus in children with nephrotic syndrome","article_path":"articles/PMC6046506.md","variant_annotation_id":1449275137,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":29637588,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"One-compartment model and first-order elimination were used for covariate analysis: body weight, CYP3A5 were significantly associated with tacrolimus pk. Monte Carlo simulation showed that patients w/the CYP3A5*3/*3 genotype receiving 0.10 mg/kg/dose 2x day and patients w/the CYP3A5*1/*1 + *1/*3A receiving 0.25 mg/kg/dose 2x day achieves target concentrations of 5-10 ng/ml. CL/F was significantly lower in CYP3A5*3/*3 vs *1/*1 +*1/*3 (0.567 \u00b1 0.216 vs. 1.050 \u00b1 0.641 L/h/kg, P = 0.005)","sentence":"CYP3A5 *3/*3 is associated with decreased clearance of tacrolimus in children with Nephrotic Syndrome as compared to CYP3A5 *1/*1.","alleles":"*3/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Nephrotic Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC10196221","article_title":"Genetic variants influenced the risk of bleeding and pharmacodynamics of rivaroxaban in patients with nonvalvular atrial fibrillation: A multicentre prospective cohort study","article_path":"articles/PMC10196221.md","variant_annotation_id":1452107306,"variant_haplotypes":"rs12703159","gene":"PRKAG2","drugs":"rivaroxaban","pmid":37203300,"phenotype_category":"Toxicity","significance":"no","notes":"as measured by peak anti\u2010FXa level. Association described as \"suggestive\". \"The incidence of bleeding events were significantly related to the peak anti\u2010FXa level, which were significantly increased in patients with bleeding events than in those without\"","sentence":"Allele C is associated with increased response to rivaroxaban in people with Atrial Fibrillation as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376632,"variant_haplotypes":"rs3758653","gene":"DRD4","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele C is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC10917709","article_title":"Cytotoxic T lymphocyte\u2010associated antigen\u20104 (CTLA-4) gene polymorphisms in a cohort of Egyptian patients with immune thrombocytopenia (ITP)","article_path":"articles/PMC10917709.md","variant_annotation_id":1452421320,"variant_haplotypes":"rs231775","gene":"CTLA4","drugs":"avatrombopag, corticosteroids, eltrombopag, rituximab","pmid":38485815,"phenotype_category":"Efficacy","significance":"no","notes":"\"There was no correlation between CTLA-4 (rs: 231775 and rs: 3087243) A/G SNPs were not correlated to the response to all lines of therapy assessed (corticosteroids, thrombopoietin receptor agonists, splenectomy, and rituximab).\"","sentence":"Allele A is not associated with increased clinical benefit to avatrombopag, corticosteroids, eltrombopag or rituximab Thrombocytopenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":"Other:Thrombocytopenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":982043660,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"no","notes":"No significant change in the likelihood of a man reaching a target mean arterial pressure concentration of <= 92 mmHg or <= 107 mmHg was seen between genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are not associated with response to amlodipine in men with Hypertension as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3548029","article_title":"Subjective Response to Alcohol among Alcohol Dependent Individuals: Effects of the Mu-Opioid Receptor (OPRM1) Gene and Alcoholism Severity","article_path":"articles/PMC3548029.md","variant_annotation_id":1450814947,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":23240711,"phenotype_category":"Toxicity","significance":"yes","notes":"Participants with the G allele reported greater alcohol-induced stimulation, vigor and positive mood than participants with the AA genotype.","sentence":"Allele G is associated with increased response to ethanol in people with Alcoholism as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5346878","article_title":"Tacrolimus dose requirements in paediatric renal allograft recipients are characterized by a biphasic course determined by age and bone maturation","article_path":"articles/PMC5346878.md","variant_annotation_id":1451441660,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"tacrolimus","pmid":27966227,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Dose-corrected tacrolimus exposure (AUC0-12/doseBW). Mapped *1B to rs2740574 C and *1A to rs2740574 T based on PharmVAR consolidation of core alleles.","sentence":"Genotype TT is associated with increased concentrations of tacrolimus in children with Kidney Transplantation as compared to genotype CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755940,"variant_haplotypes":"rs195854","gene":"POU2F2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3774043","article_title":"Intestinal CYP3A4 and Midazolam Disposition in vivo Associate with VDR Polymorphisms and Show Seasonal Variation","article_path":"articles/PMC3774043.md","variant_annotation_id":981565062,"variant_haplotypes":"rs11568820","gene":"VDR","drugs":"midazolam","pmid":22484315,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes CT + TT are associated with increased clearance of midazolam as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703607,"variant_haplotypes":"rs1050152","gene":"SLC22A4","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype was not significantly with associated with likelihood of achieving complete molecular response (CMR) within 12 months. CMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; CMR was a ratio <= 0.0032%.","sentence":"Genotype TT is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3292264","article_title":"Exploration of CYP450 and drug transporter genotypes and correlations with nevirapine exposure in Malawians","article_path":"articles/PMC3292264.md","variant_annotation_id":827823690,"variant_haplotypes":"rs3842689","gene":"NR1I2","drugs":"nevirapine","pmid":22111602,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"as measured by decreased area under the concentration time curve and increased apparent oral clearance of the drug. This was not statistically significant after multiple comparison correction. [stat_test: linear regression]","sentence":"Genotypes GAGAAG/del + del/del are associated with increased clearance of nevirapine in people with HIV Infections as compared to genotype GAGAAG/GAGAAG.","alleles":"GAGAAG/del + del/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GAGAAG/GAGAAG","comparison_metabolizer_types":null} +{"pmcid":"PMC3481266","article_title":"Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Potentiator VX-770 (Ivacaftor) Opens the Defective Channel Gate of Mutant CFTR in a Phosphorylation-dependent but ATP-independent Manner","article_path":"articles/PMC3481266.md","variant_annotation_id":981755746,"variant_haplotypes":"rs75527207","gene":"CFTR","drugs":"ivacaftor","pmid":22942289,"phenotype_category":"Efficacy","significance":"not stated","notes":"In vitro studies using proteoliposomes containing CFTR, or CFTR with the G551D mutation (rs75527207 allele A), or CFTR with the F508del mutation (rs113993960 allele del). Ivacaftor in the presence of ATP potentiated channel activity of CFTR-G551D.","sentence":"Allele A is associated with increased response to ivacaftor.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7655626","article_title":"Pharmacogenetic Interactions of Rifapentine plus Isoniazid with Efavirenz or Nevirapine","article_path":"articles/PMC7655626.md","variant_annotation_id":1451308122,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"nevirapine","pmid":32815870,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"NAT2 slow acetylators also had greater plasma efavirenz and nevirapine concentration increases from baseline to week 4, and greater decreases from baseline in clearance.","sentence":"NAT2 slow acetylator is associated with increased concentrations of nevirapine in people with HIV Infections.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2754599","article_title":"CYP2B6 Variants and Plasma Efavirenz Concentrations during Antiretroviral Therapy in Port-au-Prince, Haiti","article_path":"articles/PMC2754599.md","variant_annotation_id":1184471369,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":19659438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As determined by significantly higher efavirenz plasma levels. Composite analysis with rs3745274: extensive metabolizers were defined as having no variant alleles at positions 516 (allele G) or (983 allele T), intermediate metabolizers had a single variant at one of the positions but not both, slow metabolizers (described as \"poor\" here) had 2 variant alleles (either genotype 516TT, 983CC, or 516 GT with 983 TC). Significant after Bonferroni correction for multiple comparisons.","sentence":"Allele T (assigned as poor metabolizer phenotype) is associated with decreased metabolism of efavirenz in people with HIV Infections as compared to allele G (assigned as normal metabolizer phenotype) .","alleles":"T","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5135610","article_title":"Genetic polymorphisms in the long noncoding RNA MIR2052HG offer a pharmacogenomic basis for the response of breast cancer patients to aromatase inhibitor therapy","article_path":"articles/PMC5135610.md","variant_annotation_id":1449002477,"variant_haplotypes":"rs4476990","gene":null,"drugs":"anastrozole, exemestane","pmid":27758888,"phenotype_category":"Efficacy","significance":"no","notes":"Patients included postmenopausal women with resected stage I\u2013III breast cancer that was ERa and/or PgR positive and randomized to five years of anastrozole or exemestane. Did not reach statistical significance for GWAS (P<5 x 10^-8).","sentence":"Allele G is not associated with increased response to anastrozole and exemestane in women with Breast Neoplasms as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757050,"variant_haplotypes":"rs3756009","gene":"F11","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele G is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4425504","article_title":"Association between Polymorphisms in Vascular Endothelial Growth Factor Gene and Response to Chemotherapies in Colorectal Cancer: A Meta-Analysis","article_path":"articles/PMC4425504.md","variant_annotation_id":1444842390,"variant_haplotypes":"rs699947","gene":"VEGFA","drugs":"bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin, oxaliplatin","pmid":25955730,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to treatment was determined by RECIST criteria.","sentence":"Genotype CC is associated with increased response to bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin and oxaliplatin in people with Colorectal Neoplasms as compared to genotype AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC","comparison_metabolizer_types":null} +{"pmcid":"PMC4254688","article_title":"Ethnic and genetic factors in methadone pharmacokinetics: A population pharmacokinetic study","article_path":"articles/PMC4254688.md","variant_annotation_id":1447520749,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"methadone","pmid":25456329,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased clearance of methadone in people with Opioid-Related Disorders as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3454425","article_title":"Pharmacogenetic Analysis of Pediatric Patients with Acute Lymphoblastic Leukemia: A Possible Association between Survival Rate and ITPA Polymorphism","article_path":"articles/PMC3454425.md","variant_annotation_id":981501231,"variant_haplotypes":"TPMT*1, TPMT*3A","gene":"TPMT","drugs":"mercaptopurine, methotrexate","pmid":23029095,"phenotype_category":"Dosage","significance":"no","notes":"The median dose percent of 6-MP and MTX for the TPMT wild type was higher than variant types. There was no significant difference in the dose percents by TPMT genotypes, although there was only six *1/*3A and *1/*3C patients and one *2*2 patient.","sentence":"TPMT *1/*1 is associated with increased dose of mercaptopurine and methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT *1/*3A.","alleles":"*1/*1","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*3A","comparison_metabolizer_types":null} +{"pmcid":"PMC3555061","article_title":"Impact of the CYP2C8 *3 polymorphism on the drug\u2013drug interaction between gemfibrozil and pioglitazone","article_path":"articles/PMC3555061.md","variant_annotation_id":1449713492,"variant_haplotypes":"CYP2C8*1, CYP2C8*3","gene":"CYP2C8","drugs":"pioglitazone","pmid":22625877,"phenotype_category":"Metabolism/PK","significance":"no","notes":"When co-administered with gemfibrozil. Patients taking pioglitazone and gemfibrozil. No significant results when considering Cmax (p=0.51), AUC0-inf (p=0.99), AUC0-48h (p=0.39), CL/F (p=0.712) or t1/2 (p=0.3).","sentence":"CYP2C8 *1/*1 is not associated with metabolism of pioglitazone in healthy individuals as compared to CYP2C8 *1/*3 + *3/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*3 + *3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC7245057","article_title":"Influences of UGT2B7 rs7439366 and rs12233719 Polymorphisms on Fentanyl Sensitivity in Chinese Gynecologic Patients","article_path":"articles/PMC7245057.md","variant_annotation_id":1451147960,"variant_haplotypes":"rs7439366","gene":"UGT2B7","drugs":"fentanyl","pmid":32401749,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in postoperative fentanyl consumption or VAS scores at 24 hours post-surgery between genotypes.","sentence":"Allele T is not associated with response to fentanyl in women with Pain, Postoperative as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4365300","article_title":"TRAF1/C5 but Not PTPRC Variants Are Potential Predictors of Rheumatoid Arthritis Response to Anti-Tumor Necrosis Factor Therapy","article_path":"articles/PMC4365300.md","variant_annotation_id":1444702644,"variant_haplotypes":"rs10919563","gene":"PTPRC","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":25834819,"phenotype_category":"Efficacy","significance":"no","notes":"using either the absolute change in DAS28 or the proportion of good responders and non-responders as outcomes.","sentence":"Allele A is not associated with decreased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4541974","article_title":"Impact of CYP2C19 polymorphism on the pharmacokinetics of nelfinavir in patients with pancreatic cancer","article_path":"articles/PMC4541974.md","variant_annotation_id":1444698677,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"nelfinavir","pmid":25752914,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"All patients were genotyped for CYP2C19 by RFLP analysis. Female and male patients were initially administered 750 or 900 mg/m2 gemcitabine IV over 30 min, 50 mg/m2 leucovorin IV over 30 min, and 2700 mg/m2 5-FU IV over 24 hours on day 1 weekly for 2 of 3 weeks for three cycles (day 1-63). Oral nelfinavir was given at 625 mg or 1250 mg twice daily for 3 weeks starting 2 weeks prior to initiation of radiation (days 56-75). 625 mg is better tolerated and preferred by patients. 1250 mg is the standard dose of nelfinavir when used to treat HIV patients. Metabolic ratio, as determined by AUC0\u201312 h of M8 over AUC0\u201312 h of nelfinavir, was significantly lower in CYP2C19 *1/*2 as compared to CYP2C19 *1/*1 (0.24 vs. 0.30) in the 1250 mg group.","sentence":"CYP2C19 *1/*2 is associated with decreased metabolism of nelfinavir in people with as compared to CYP2C19 *1/*1.","alleles":"*1/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1448522347,"variant_haplotypes":"rs25487","gene":"XRCC1","drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate, overall survival or time to progression in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01.","sentence":"Genotype CC is not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5546852","article_title":"Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention","article_path":"articles/PMC5546852.md","variant_annotation_id":1448617616,"variant_haplotypes":"rs11086926","gene":"HNF4A","drugs":"metformin","pmid":28453780,"phenotype_category":"Efficacy","significance":"no","notes":"Subjects were at high risk of diabetes and were recruited from Diabetes Prevention Program (DPP) and were followed for a year. The authors measured changes in response to insulin at baseline and one year after treatment. Although the GG genotype was not associated with response to metformin, it was associated with changes in lifestyle as subjects with that genotype were less likely to develop diabetes compared with persons with the same genotype in the placebo (P=0.02) and metformin (P=0.02) groups.","sentence":"Genotype GG is not associated with response to metformin as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3603284","article_title":"Discordant Associations between SLCO1B1 521T\u2192C and Plasma Levels of Ritonavir-boosted Protease Inhibitors in AIDS Clinical Trials Group Study A5146","article_path":"articles/PMC3603284.md","variant_annotation_id":1451116020,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"amprenavir, saquinavir","pmid":23503447,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with trough concentration of amprenavir or saquinavir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271199,"variant_haplotypes":"CYP2C9 poor metabolizer","gene":"CYP2C9","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"no","notes":"Response defined by changes in the rate of dropout from treatment between metabolizer phenotypes. Study genotyped for the CYP2C9 *1, *2, *3, *4, *5 and *6 alleles and then assigned metabolizer phenotypes.","sentence":"CYP2C9 poor metabolizer is not associated with response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to CYP2C9 intermediate metabolizer and normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} +{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677354,"variant_haplotypes":"rs3759811","gene":"CYP19A1","drugs":"triglycerides","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with decreases in triglycerides of 32.3 mg/dL (SE 9.0).","sentence":"Allele C is associated with decreased concentrations of triglycerides in women with Breast Neoplasms and Menopause as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6493603","article_title":"Effects of SCN1A and GABA Receptor Genetic Polymorphisms on Carbamazepine Tolerability and Efficacy in Chinese Patients with Partial Seizures: 2\u2010Year Longitudinal Clinical Follow\u2010Up","article_path":"articles/PMC6493603.md","variant_annotation_id":982023304,"variant_haplotypes":"rs3812718","gene":"SCN1A","drugs":"carbamazepine","pmid":22591328,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the TT genotype have increased maintenance dose and serum levels of carbamazepine between 3 and 12 months of treatment. No significant difference between genotypes was seen between 15 and 24 months of treatment. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4476880","article_title":"\u03b2-2 Adrenergic receptor gene polymorphism and response to propranolol in cirrhosis","article_path":"articles/PMC4476880.md","variant_annotation_id":1447959492,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"propranolol","pmid":26109805,"phenotype_category":"Efficacy","significance":"yes","notes":"all patients had decrease in heart rate and variceal pressure in response to propranolol but decrease was greater in Gly16-GluGln27 group (rs1042713G)(rs1042714) compared to Arg16-Gln27, with compound heterozygotes as intermediate responders.","sentence":"Genotype GG is associated with increased response to propranolol in people with Liver Cirrhosis as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver Cirrhosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6006403","article_title":"Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma","article_path":"articles/PMC6006403.md","variant_annotation_id":1449577002,"variant_haplotypes":"rs17834628","gene":null,"drugs":"salbutamol","pmid":29509491,"phenotype_category":"Efficacy","significance":"yes","notes":"Direction of the response not explicit stated in the article.","sentence":"Allele A is associated with increased response to salbutamol in children with as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032084,"variant_haplotypes":"rs1491850","gene":"BDNF","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was statistically significant after permutation analysis based on 40,000 replicates, but not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction).","sentence":"Genotype CC is associated with decreased dose of methadone in people with Heroin Dependence as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4169411","article_title":"Thymidylate Synthase Genotype-Directed Chemotherapy for Patients with Gastric and Gastroesophageal Junction Cancers","article_path":"articles/PMC4169411.md","variant_annotation_id":1450821634,"variant_haplotypes":"rs11280056","gene":"TYMS","drugs":"fluorouracil, leucovorin, oxaliplatin","pmid":25232828,"phenotype_category":"Efficacy","significance":"no","notes":"This association was originally mapped to rs34489327 and subsequently migrated to the analogous SNP rs151264360. rs151264360 has now been merged into rs11280056. This annotation replaces VA 1184886864.","sentence":"Allele del is not associated with response to fluorouracil, leucovorin and oxaliplatin in people with Esophageal Neoplasms and Stomach Neoplasms.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasm of esophagus, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6647927","article_title":"Influence of (ATP)-Binding Cassette Transporter Subfamily B Member 1 (ABCB1) Gene Polymorphism on the Efficacy of Remifentanil","article_path":"articles/PMC6647927.md","variant_annotation_id":1451118692,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"remifentanil","pmid":31346154,"phenotype_category":"Efficacy","significance":"no","notes":"No significant different in analepsia time, autonomous respiratory recovery time or orientation recovery time between patients with the AG or AA genotypes, or between patients with the AG or GG genotypes.","sentence":"Genotype AG is not associated with response to remifentanil as compared to genotypes AA + GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6745302","article_title":"A functional variant in the serotonin receptor 7 gene (HTR7), rs7905446, is associated with good response to SSRIs in bipolar and unipolar depression","article_path":"articles/PMC6745302.md","variant_annotation_id":1450372683,"variant_haplotypes":"rs7905446","gene":"HTR7","drugs":"fluoxetine, paroxetine","pmid":30874608,"phenotype_category":"Efficacy","significance":"yes","notes":"A 'good' response was determined as a 50% reduction in symptoms or episode frequency during the course of the illness.; This analysis was carried out on patients who were treated with fluoxetine or paroxetine. This association remained statistically significant in the paroxetine group, but significance was lost in the fluoxetine group.","sentence":"Genotype TT is associated with decreased response to fluoxetine or paroxetine in people with Bipolar Disorder as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC4209173","article_title":"Pharmacogenetics of warfarin in a paediatric population: Time in therapeutic range, initial and stable dosing, and adverse effects","article_path":"articles/PMC4209173.md","variant_annotation_id":1184473587,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":25001883,"phenotype_category":"Dosage","significance":"yes","notes":"with an approximate decrease of daily dose of 0.82mg.","sentence":"CYP2C9 *2 is associated with decreased dose of warfarin in children as compared to CYP2C9 *1.","alleles":"*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5734971","article_title":"Genetic Analysis of Mu and Kappa Opioid Receptor and COMT Enzyme in Cancer Pain Tunisian Patients Under Opioid Treatment","article_path":"articles/PMC5734971.md","variant_annotation_id":1449182349,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"morphine","pmid":29259946,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"No association was observed between this variant and a patient's initial dose requirement or their need to escalate their dose of morphine.","sentence":"Allele G is not associated with dose of morphine in people with Pain as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2194758","article_title":"Ethnic Stratification of the Association of RGS4 Variants with Antipsychotic Treatment Response in Schizophrenia","article_path":"articles/PMC2194758.md","variant_annotation_id":655387138,"variant_haplotypes":"rs951439","gene":"RGS4","drugs":"quetiapine, ziprasidone","pmid":17588543,"phenotype_category":"Efficacy","significance":"not stated","notes":null,"sentence":"Genotype TT is associated with increased response to quetiapine and ziprasidone in people with Schizophrenia as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3779247","article_title":"Influence of Vitamin D-Related Gene Polymorphisms (CYP27B and VDR) on the Response to Interferon/Ribavirin Therapy in Chronic Hepatitis C","article_path":"articles/PMC3779247.md","variant_annotation_id":1444706626,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2b, ribavirin","pmid":24073221,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Allele T is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359106,"variant_haplotypes":"rs10064525","gene":"SLC6A3","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele G is not associated with response to heroin as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157237,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"methadone","pmid":23612435,"phenotype_category":"Efficacy","significance":"yes","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment. Patients with the CC genotype had significantly fewer positive drug screens during 24 weeks of treatment than the combined group of patients with the CT or TT genotypes.","sentence":"Genotype CC is associated with increased response to methadone in people with Opioid-Related Disorders as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163079,"variant_haplotypes":"rs117937072","gene":"ABCB1","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. This is a proxy for rs2229109 (1199G/A).","sentence":"Allele G is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6247602","article_title":"Impact of CYP3A4*1G Polymorphism on Fentanyl Analgesia Assessed by Analgesia Nociception Index in Chinese Patients Undergoing Hysteroscopy","article_path":"articles/PMC6247602.md","variant_annotation_id":1450931972,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"fentanyl","pmid":30381583,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele is also referred to in the paper as the CYP3A4*1G allele. PharmVar reassigned *1G to *36.","sentence":"Genotype TT is associated with increased response to fentanyl in women with Pain, Postoperative as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC11120965","article_title":"Impact of CYP2C19 Gene Variants on Long-Term Treatment with Atorvastatin in Patients with Acute Coronary Syndromes","article_path":"articles/PMC11120965.md","variant_annotation_id":1452485100,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*4, CYP2C19*8, CYP2C19*11","gene":"CYP2C19","drugs":"atorvastatin","pmid":38791422,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Carriers of the CYP2C19*2, CYP2C19*4, and CYP2C19*8 alleles were considered poor metabolizers, while all other patients were considered normal metabolizers.\" \"The multivariable logistic regression model showed (Table 5) that poor CYP2C19 metabolizing phenotype, patient age, and smoking increased the odds of undertreatment in patients (\u2206LDL-C (mmol/L) < 1) who received standard atorvastatin cholesterol-lowering therapy.\"","sentence":"CYP2C19 *2 + *4 + *8 (assigned as poor metabolizer phenotype) is associated with decreased clinical benefit to atorvastatin in people with Cardiovascular Diseases as compared to CYP2C19 *1 + *11.","alleles":"*2 + *4 + *8","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *11","comparison_metabolizer_types":null} +{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715496,"variant_haplotypes":"rs12645107","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Efficacy","significance":"no","notes":"There was no significant difference in PPLpost-PPLpre between the genotype groups.","sentence":"Allele A is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC8880478","article_title":"Effect of GSTA1 Variants on Busulfan-Based Conditioning Regimen Prior to Allogenic Hematopoietic Stem-Cell Transplantation in Pediatric Asians","article_path":"articles/PMC8880478.md","variant_annotation_id":1452480760,"variant_haplotypes":"rs3957357","gene":"GSTA1","drugs":"busulfan","pmid":35214132,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"The carriers of the variant allele GSTA1*B had a lower CL, which in turn reduced the elimination of busulfan; this was associated with increased AUC.\" There are two variants C-69T (rs3957357) and G-52A (rs3957356) which combine to form *A and *B alleles where -69C, -52G, designated as GSTA1*A; -69T, -52A, designated as GSTA1*B.","sentence":"Allele A is associated with decreased clearance of busulfan in children with hematopoietic stem cell transplantation as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Hematopoietic stem cell transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2810514","article_title":"Interleukin-6 (IL-6) haplotypes and the response to therapy of chronic hepatitis C virus infection","article_path":"articles/PMC2810514.md","variant_annotation_id":981861804,"variant_haplotypes":"rs1800796","gene":"IL6","drugs":"peginterferon alfa-2a","pmid":19387461,"phenotype_category":"Efficacy","significance":"yes","notes":"This association is as part of a haplotype which also includes rs1800797G and rs1800795G. This is a GC SNP so the listed associated allele may be incorrect.","sentence":"Allele G is associated with decreased response to peginterferon alfa-2a in people with Hepatitis C, Chronic as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5299197","article_title":"Influence of IL-18 and IL-10 Polymorphisms on Tacrolimus Elimination in Chinese Lung Transplant Patients","article_path":"articles/PMC5299197.md","variant_annotation_id":1448603564,"variant_haplotypes":"rs1800871","gene":"IL10","drugs":"tacrolimus","pmid":28246425,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in dose-adjusted trough concentration was seen between patients with the AG + GG genotypes and those with the AA genotype at weeks 1, 2, 3 or 4 post-transplant. This rsID is referred to as \"rs3021097\" in the paper. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AG + GG is not associated with dose-adjusted trough concentrations of tacrolimus in people with lung transplantation as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238796,"variant_haplotypes":"rs17194378","gene":"CNTN4","drugs":"ziprasidone","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele A is associated with response to ziprasidone in people with Schizophrenia.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183634117,"variant_haplotypes":"rs9933692","gene":"HS3ST4","drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"There was a trend but significance was not attained. Observations: 2.09 mm Hg increased reduction of diastolic blood pressure per A allele in PEAR + GERA, 0.05 mm Hg decreased reduction of diastolic blood pressure per A allele in NORDIL (small, opposite direction effect), and 1.36 mm Hg increased reduction of diastolic blood pressure per A allele in PEAR + GERA + NORDIL.","sentence":"Allele A is not associated with response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373217,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not significantly associated with compliance with methadone maintenance therapy or 'negative rate of morphine urine test'.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to methadone in people with Heroin Dependence as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862168,"variant_haplotypes":"rs7287550","gene":"COMT, TXNRD2","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs2075507,rs737866, rs5746849, rs740603, rs6269, rs2239393, rs4818, rs4680, rs174699, rs165728). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here.","sentence":"Allele C is associated with decreased dose of morphine in people with Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5632935","article_title":"Impact of CYP2C19 Polymorphisms on Serum Concentration of Voriconazole in Iranian Hematological Patients","article_path":"articles/PMC5632935.md","variant_annotation_id":1449146891,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":29026840,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients who were classified as intermediate metabolizers (IMs; n=9; *1/*2) had higher serum concentrations of voriconazole at day 4 of treatment as compared to those classified as extensive metabolizers (EMs; n=18; *1/*1) or ultrarapid metabolizers (UMs; n=8; *1/*17). Significant differences were observed when comparing IMs vs UMs (p<0.0001), IMs vs EMs (p<0.001) and EMs vs UMs (p<0.001). Patients had hematologic malignancies and were treated with voriconazole for invasive aspergillosis.","sentence":"CYP2C19 *1/*2 is associated with increased concentrations of voriconazole in people with Mycoses as compared to CYP2C19 *1/*1 + *1/*17.","alleles":"*1/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Mycoses","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17","comparison_metabolizer_types":null} +{"pmcid":"PMC2896457","article_title":"Dopamine D2 receptor genetic variation and clinical response to antipsychotic drug treatment: A meta-analysis","article_path":"articles/PMC2896457.md","variant_annotation_id":769168986,"variant_haplotypes":"rs1800497","gene":"ANKK1","drugs":"antipsychotics","pmid":20194480,"phenotype_category":"Efficacy","significance":"no","notes":"in a meta-analysis.","sentence":"Allele A is not associated with response to antipsychotics in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163102,"variant_haplotypes":"rs9282564","gene":"ABCB1","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767382,"variant_haplotypes":"rs904323","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele A is not associated with trough concentration of vancomycin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3071070","article_title":"Association of Pharmacogenetic Markers with Premature Discontinuation of First-line Anti-HIV Therapy: An Observational Cohort Study","article_path":"articles/PMC3071070.md","variant_annotation_id":1184747485,"variant_haplotypes":"rs899494","gene":"ABCC4","drugs":"tenofovir","pmid":21288825,"phenotype_category":"Toxicity","significance":"no","notes":null,"sentence":"Genotypes AA + AG is not associated with increased discontinuation of tenofovir in people with HIV Infections as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438711,"variant_haplotypes":"rs34940374","gene":"GIMAP6","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 6.0E-7.","sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183632007,"variant_haplotypes":"rs2776546","gene":null,"drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"yes","notes":"The association was with diastolic blood pressure response. Observations: 3.24 mm Hg greater reduction of diastolic blood pressure per A allele in PEAR + GERA, 0.88mm Hg greater reduction in diastolic blood pressure per A allele in NORDIL","sentence":"Allele A is associated with increased response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157250,"variant_haplotypes":"rs10753331","gene":null,"drugs":"methadone","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.","sentence":"Allele A is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6014560","article_title":"Genetic Variants in CPA6 and PRPF31 Are Associated With Variation in Response to Metformin in Individuals With Type 2 Diabetes","article_path":"articles/PMC6014560.md","variant_annotation_id":1449295791,"variant_haplotypes":"rs254271","gene":"PRPF31","drugs":"metformin","pmid":29650774,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP is associated with changes in HbA1C when all races are combined.","sentence":"Allele C is associated with decreased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10483403","article_title":"Genetic polymorphisms are associated with individual susceptibility to dexmedetomidine","article_path":"articles/PMC10483403.md","variant_annotation_id":1452240943,"variant_haplotypes":"rs5758550","gene":"WBP2NL","drugs":"dexmedetomidine","pmid":37693312,"phenotype_category":"Toxicity","significance":"yes","notes":"as measured by decreased in mean arterial pressure. \"homozygosity for the major allele significantly changed less in MAP during DXM sedation period than either heterozygosity or homozygosity for the minor allele (\u22128.19 \u00b1 9.96 vs. \u221212.85 \u00b1 6.68, p = 0.025). Thus, heterozygosity or homozygosity for the gene\u2019s minor allele G) may cause a higher susceptibility to the cardiovascular impact of DXM.\"","sentence":"Genotypes AG + GG is associated with increased response to dexmedetomidine in people with surgery as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:surgery","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3805522","article_title":"Evaluating Predictive Pharmacogenetic Signatures of Adverse Events in Colorectal Cancer Patients Treated with Fluoropyrimidines","article_path":"articles/PMC3805522.md","variant_annotation_id":1184471936,"variant_haplotypes":"rs11479","gene":"TYMP","drugs":"capecitabine, fluorouracil","pmid":24167597,"phenotype_category":"Dosage","significance":"yes","notes":"Clinical data about adverse events were collected from patient records and laboratory charts for 12 weeks after the initiation of therapy. Delays or reductions in the administration of 5'FU or capecitabine due to adverse events were recorded as primary outcomes, and grade 3,4,5 adverse events were analyzed as secondary outcomes. \"Dose\" here refers to dose modification.","sentence":"Genotypes AA + AG is associated with dose of capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4896103","article_title":"Combination therapy with cystic fibrosis transmembrane conductance regulator modulators augment the airway functional microanatomy","article_path":"articles/PMC4896103.md","variant_annotation_id":1447981017,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor","pmid":26968770,"phenotype_category":"Efficacy","significance":"yes","notes":"Cell based assays looking at monolayers to report that F508del cells exhibit increased mucociliary transport and decreased mucus effective viscosity when ivacaftor is added to the full regimen with C18. Result not seen with ivacaftor alone or with c18 alone.","sentence":"Allele del is associated with increased response to ivacaftor in people with Cystic Fibrosis.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163153,"variant_haplotypes":"rs4986893","gene":"CYP2C19","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. This corresponds to CYP2C19*3 and was very rare - zero people in the EA cohort had the variant and frequency in AA cohort was 0.001.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163561,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients, this was one of the variants that passed validation in both populations. Direction of effect was not stated.","sentence":"Allele T is associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4461653","article_title":"ST13 polymorphisms and their effect on exacerbations in steroid-treated asthmatic children and young adults","article_path":"articles/PMC4461653.md","variant_annotation_id":1447944175,"variant_haplotypes":"rs138337","gene":"ST13","drugs":"corticosteroids","pmid":25616159,"phenotype_category":"Efficacy","significance":"yes","notes":"Outcome measured was hospital visits for airway exacerbation. Effect is additive, measured per G allele.","sentence":"Allele G is associated with decreased response to corticosteroids in children with Asthma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6505090","article_title":"Individualized treatment based on CYP3A5 single-nucleotide polymorphisms with tacrolimus in ulcerative colitis","article_path":"articles/PMC6505090.md","variant_annotation_id":1450373276,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":30704156,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the *1/*1 or *1/*3 genotype required significantly higher doses of tacrolimus in order to maintain a stable blood trough level of 10 ng/mL. The required dosages were 0.27 (*1/*1), 0.17 (*1/*3) and 0.09 ng/mL (*3/*3). The authors used these required doses in order to test whether genotype-guided tacrolimus dosing helped achieve target levels more quickly.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased dose of tacrolimus in people with Arthritis, Rheumatoid or Colitis, Ulcerative as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis, Disease:Ulcerative Colitis","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC5421731","article_title":"Candidate\u2010Gene Study of Functional Polymorphisms in SLCO1B1 and CYP3A4/5 and the Cholesterol\u2010Lowering Response to Simvastatin","article_path":"articles/PMC5421731.md","variant_annotation_id":1451354923,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"simvastatin","pmid":28482130,"phenotype_category":"Efficacy","significance":"yes","notes":"in Whites.","sentence":"Allele C is associated with decreased response to simvastatin as compared to genotype TT.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3164277","article_title":"Prolonged Half-life of Voriconazole in a CYP2C19 Homozygous Poor Metabolizer Receiving Vincristine Chemotherapy: Avoiding a Serious Adverse Drug Interaction","article_path":"articles/PMC3164277.md","variant_annotation_id":1444828207,"variant_haplotypes":"CYP2C19*2","gene":"CYP2C19","drugs":"voriconazole","pmid":21615537,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Case report: Patient taking normal doses of voriconazole and trough concentration elevated (6.1-6.7 mcg/ml) resulting in discontinuation of drug.","sentence":"CYP2C19 *2/*2 (assigned as poor metabolizer phenotype) is associated with increased concentrations of voriconazole.","alleles":"*2/*2","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162849,"variant_haplotypes":"rs6785049","gene":"NR1I2","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele G is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114920,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and clearance of lopinavir or ritonavir in patients treated with lopinavir/ritonavir. Variant referred to in the paper as A388G.","sentence":"Allele G is not associated with clearance of lopinavir or ritonavir in children with HIV Infections as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6423619","article_title":"Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19","article_path":"articles/PMC6423619.md","variant_annotation_id":1450935713,"variant_haplotypes":"rs144928727","gene":"CYP2C19","drugs":"mephenytoin","pmid":30745309,"phenotype_category":"Metabolism/PK","significance":"no","notes":"In vitro analysis showed that intrinsic clearance of S-mephenytoin by CYP2C19 protein containing the G allele was 36.2% of that of the WT protein. However, this difference was not found to be statistically significant. Variant referred to as 65A>G in the paper.","sentence":"Allele G is associated with decreased clearance of mephenytoin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC11106956","article_title":"Population pharmacokinetics of primaquine and its metabolites in African males","article_path":"articles/PMC11106956.md","variant_annotation_id":1452488448,"variant_haplotypes":"G6PD deficiency","gene":"G6PD","drugs":"carboxyprimaquine, primaquine, primaquine n-carbamoyl glucuronide","pmid":38773528,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"In summary, the population pharmacokinetic properties of PQ, CPQ, and PQCG have been characterized and reported here. No statistically significant relationships were seen between the pharmacokinetic parameters and the change in haemoglobin levels in G6PD-deficient patients after a single low dose of primaquine. A single low dose (0.50 mg/kg) of PQ was haematologically safe in this population of G6PD-deficient African males without malaria.\"","sentence":"G6PD deficiency is not associated with increased concentrations of carboxyprimaquine, primaquine or primaquine n-carbamoyl glucuronide in men as compared to G6PD non-deficient.","alleles":null,"specialty_population":null,"metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"non-deficient"} +{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183634138,"variant_haplotypes":"rs4074471","gene":"HS3ST4","drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"There was a trend but significance was not attained. Observations: 2.09 mm Hg decreased reduction of diastolic blood pressure per T allele in PEAR + GERA, 0.05 mm Hg increased reduction of diastolic blood pressure per T allele in NORDIL (opposite, though small effect), and 1.36 mm Hg decreased reduction of diastolic blood pressure per T allele in PEAR + GERA + NORDIL.","sentence":"Allele T is not associated with response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3378722","article_title":"Prediction of Warfarin Dose Reductions in Puerto Rican Patients, Based on Combinatorial CYP2C9 and VKORC1 Genotypes","article_path":"articles/PMC3378722.md","variant_annotation_id":1184510108,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*5","gene":"CYP2C9","drugs":"warfarin","pmid":22274142,"phenotype_category":"Dosage","significance":"yes","notes":"This variant is analyzed along with VKORC1 variants.","sentence":"CYP2C9 *1/*2 + *1/*3 + *2/*3 + *2/*2 + *1/*5 + *2/*5 is associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*2 + *1/*3 + *2/*3 + *2/*2 + *1/*5 + *2/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5908896","article_title":"Association of STAT-3 rs1053004 and VDR rs11574077 With FOLFIRI-Related Gastrointestinal Toxicity in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC5908896.md","variant_annotation_id":1449557344,"variant_haplotypes":"rs11574077","gene":"VDR","drugs":"irinotecan","pmid":29706892,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The pharmacokinetic analysis focused on markers that, even if not presenting a significant effect in the replication cohort (p > 0.05), presented a concordant effect on the toxicity risk in both cohorts (same size effect according to the same genetic model). The association of these polymorphisms with the pharmacokinetic parameters was investigated in a subset of 71 patients from the discovery cohort, and the most relevant results (p < 0.1; concordant genetic model) .","sentence":"Genotype TT is associated with increased metabolism of irinotecan in people with Colorectal Neoplasms as compared to genotype CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3555061","article_title":"Impact of the CYP2C8 *3 polymorphism on the drug\u2013drug interaction between gemfibrozil and pioglitazone","article_path":"articles/PMC3555061.md","variant_annotation_id":1449713452,"variant_haplotypes":"CYP2C8*1, CYP2C8*3","gene":"CYP2C8","drugs":"pioglitazone","pmid":22625877,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Cmax","sentence":"CYP2C8 *1/*1 is not associated with concentrations of pioglitazone in healthy individuals as compared to CYP2C8 *1/*3 + *3/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*3 + *3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934380,"variant_haplotypes":"rs398123226","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the T allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Asp226Glu in the paper.","sentence":"Allele T is associated with increased response to migalastat in people with Fabry Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC8458697","article_title":"Influence of CYP2D6 and CYP3A5 Polymorphisms on the Pharmacokinetics and Pharmacodynamics of Bisoprolol in Hypertensive Chinese Patients","article_path":"articles/PMC8458697.md","variant_annotation_id":1451535660,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"bisoprolol","pmid":34568359,"phenotype_category":"Efficacy","significance":"no","notes":"There was no significant change in bisoprolol concentrations nor various blood pressure measurements due to CYP3A5 genotype categories.","sentence":"CYP3A5 *3 is not associated with response to bisoprolol in people with Hypertension as compared to CYP3A5 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438640,"variant_haplotypes":"rs58896682","gene":"FARP1, STK24","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 6.0E-7. Listed as rs144511092 in the paper, which has been merged into rs58896682.","sentence":"Allele ATTTATTTT is not associated with clearance of tenofovir in people with HIV Infections as compared to allele ATTTT.","alleles":"ATTTATTTT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"ATTTT","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436720,"variant_haplotypes":"rs8099917","gene":"IFNL3, IFNL4","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 4.5E-3.","sentence":"Allele G is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4454552","article_title":"Effects of the CYP3A4*1B Genetic Polymorphism on the Pharmacokinetics of Tacrolimus in Adult Renal Transplant Recipients: A Meta-Analysis","article_path":"articles/PMC4454552.md","variant_annotation_id":1444842712,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"tacrolimus","pmid":26039043,"phenotype_category":"Dosage","significance":"yes","notes":"The C allele (CYP3A4 *1B) was associated with a higher dose of tacrolimus at 7 days ((weight mean difference) WMD (-0.048); 95% CI: (-0.083_ -0.014), 6 months (WMD -0.058); 95% CI (-0.081_ -0.036), and 1 year (WMD -0.096_-0.027) post-transplantation.","sentence":"Allele C is associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4630174","article_title":"CYP2D6 Haplotype Determination Using Long Range Allele-Specific Amplification: Resolution of a Complex Genotype and a Discordant Genotype Involving the CYP2D6*59 Allele","article_path":"articles/PMC4630174.md","variant_annotation_id":1446899270,"variant_haplotypes":"CYP2D6*2, CYP2D6*59","gene":"CYP2D6","drugs":"dextromethorphan","pmid":26335396,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"A subject with the *2/*59 diplotype had a dextromethorphan/dextrorphan urinary metabolic ratio of 0.024 with was consistent with extensive metabolizer phenotype.","sentence":"CYP2D6 *2/*59 (assigned as normal metabolizer phenotype) is not associated with decreased metabolism of dextromethorphan.","alleles":"*2/*59","specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5875925","article_title":"Pharmacogenetics of Asthma Controller Treatment","article_path":"articles/PMC5875925.md","variant_annotation_id":1183703247,"variant_haplotypes":"rs6962027","gene":"CHRM2","drugs":"fluticasone/salmeterol","pmid":22370858,"phenotype_category":"Efficacy","significance":"yes","notes":"The \"major\" allele is associated with increased response. It is not clear whether that is A or T on the positive chromosomal strand.","sentence":"Allele A is associated with response to fluticasone/salmeterol in people with Asthma as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677221,"variant_haplotypes":"rs749292","gene":"CYP19A1","drugs":"triglycerides","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with decreases in triglycerides ranging from 39.3-20.2 mg/dL using a recessive and additive model, respectively.","sentence":"Allele A is associated with decreased concentrations of triglycerides in women with Breast Neoplasms and Menopause as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874640,"variant_haplotypes":"rs7787082","gene":"ABCB1","drugs":"clozapine","pmid":40048458,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. Table does not state which allele or direction of effect for these SNPs, so assuming minor allele and benefit, PANSS beta is in Table negative. \"four SNPs in two genes were significantly associated with the total PANSS score: rs7787082 and rs10248420 in ABCB1 and rs2133251840 and rs762502 in DRD4 (Table 5). Among these, only one SNP in DRD4 (rs2133251840) resulted in different total PANSS scores at visits 3 and 4 according to its genotype\"","sentence":"Allele A is associated with increased clinical benefit to clozapine in people with Schizophrenia or Psychotic Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2950972","article_title":"Effects of Opioid Receptor Gene Variation on Targeted Nalmefene Treatment in Heavy Drinkers","article_path":"articles/PMC2950972.md","variant_annotation_id":1449161513,"variant_haplotypes":"rs2234918","gene":"OPRD1","drugs":"nalmefene","pmid":18537939,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to nalmefene in people with Alcoholism as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3330749","article_title":"Genetic and environmental factors determining clinical outcomes and cost of warfarin therapy: a prospective study","article_path":"articles/PMC3330749.md","variant_annotation_id":1447519925,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":19752777,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930617,"variant_haplotypes":"rs2869546","gene":"CHRNA3","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele C is not associated with exposure to nicotine in men as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC10668244","article_title":"Genotype-guided new approach for dose optimisation of hydroxychloroquine administration in Chinese patients with SLE","article_path":"articles/PMC10668244.md","variant_annotation_id":1452308466,"variant_haplotypes":"rs7910936","gene":"CYP2C8","drugs":"desethylchloroquine, hydroxychloroquine","pmid":37993281,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The C allele of CYP2C8 (rs7910936) was related to higher HCQ (p=0.001) and DCQ (p=0.014). \"","sentence":"Allele C is associated with increased concentrations of desethylchloroquine or hydroxychloroquine in people with Lupus Erythematosus, Systemic as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Systemic lupus erythematosus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2681284","article_title":"Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate","article_path":"articles/PMC2681284.md","variant_annotation_id":769173673,"variant_haplotypes":"rs4673993","gene":"ATIC","drugs":"methotrexate","pmid":19193698,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele C is associated with increased response to methotrexate in people with Arthritis, Rheumatoid as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5342670","article_title":"IL-3 and CTLA4 gene polymorphisms may influence the tacrolimus dose requirement in Chinese kidney transplant recipients","article_path":"articles/PMC5342670.md","variant_annotation_id":1448613220,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"tacrolimus","pmid":28112181,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was seen for time 7, 30, and 90 days after transplantation. Exposure to CC was higher than CT, which was higher than TT.","sentence":"Genotype CC is associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC9481373","article_title":"Tacrolimus Concentration Is Effectively Predicted Using Combined Clinical and Genetic Factors in the Perioperative Period of Kidney Transplantation and Associated with Acute Rejection","article_path":"articles/PMC9481373.md","variant_annotation_id":1451893700,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":36118414,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes CT + TT (assigned as intermediate metabolizer and normal metabolizer phenotype) is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to genotype CC (assigned as poor metabolizer phenotype) .","alleles":"CT + TT","specialty_population":null,"metabolizer_types":"normal metabolizer and intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":"poor metabolizer"} +{"pmcid":"PMC7193447","article_title":"The influence of genetic polymorphisms in drug metabolism enzymes and transporters on the pharmacokinetics of different fluvastatin formulations","article_path":"articles/PMC7193447.md","variant_annotation_id":1451666721,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"fluvastatin","pmid":32373204,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The CYP2C9 *3 genotypes were only significantly associated with the AUC 0-24 after the first dose of IR ( P = 0.043), but not significant after repeated doses, or with those in the ER formulation settings.","sentence":"CYP2C9 *1/*3 is associated with increased concentrations of fluvastatin in healthy individuals as compared to CYP2C9 *1/*1.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC11310823","article_title":"Pharmacogenetic Variants and Plasma Concentrations of Antiseizure Drugs: A Systematic Review and Meta-Analysis","article_path":"articles/PMC11310823.md","variant_annotation_id":1452563845,"variant_haplotypes":"CYP2C19 intermediate metabolizer","gene":"CYP2C19","drugs":"phenytoin","pmid":39115847,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"We observed 23% (95% CI, 17%-30%) higher phenytoin plasma concentration in CYP2C19 intermediate metabolizers and 39% (95% CI, 24%-56%) higher phenytoin plasma concentration in CYP2C19 poor (Table 3).\" \"Abolished activity: CYP2C19*2: rs1799853 or CYP2C19*3: rs1057910\"","sentence":"CYP2C19 intermediate metabolizer and poor metabolizer is associated with increased concentrations of phenytoin as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163182,"variant_haplotypes":"rs12571421","gene":"CYP2C19","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. This is a proxy SNP for rs4244285 (CYP2C19*2).","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5818817","article_title":"Effect of Genotype-Guided Warfarin Dosing on Clinical Events and Anticoagulation Control Among Patients Undergoing Hip or Knee Arthroplasty: The GIFT Randomized Clinical Trial","article_path":"articles/PMC5818817.md","variant_annotation_id":1449269204,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":28973620,"phenotype_category":"Dosage","significance":"not stated","notes":null,"sentence":"Allele C is associated with dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3383686","article_title":"Meta-Analysis on Pharmacogenetics of Platinum-Based Chemotherapy in Non Small Cell Lung Cancer (NSCLC) Patients","article_path":"articles/PMC3383686.md","variant_annotation_id":982046456,"variant_haplotypes":"rs13181","gene":"ERCC2","drugs":"Platinum compounds","pmid":22761669,"phenotype_category":"Efficacy","significance":"no","notes":"No significant relationship between genotype and drug response was detected.","sentence":"Allele G is not associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4872310","article_title":"Genotype-Driven Phase I Study of Irinotecan Administered in Combination With Fluorouracil/Leucovorin in Patients With Metastatic Colorectal Cancer","article_path":"articles/PMC4872310.md","variant_annotation_id":1448261674,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan","pmid":20038727,"phenotype_category":"Dosage","significance":"not stated","notes":"This study provided maximum tolerated doses of irinotecan for the *1/*1 and *1/*28 genotypes. Patients with *28/*28 were excluded. The maximum tolerated doses were found to be considerably higher than the recommended irinotecan dose of 180 mg/m2. Patients with the *1/*28 variant or patients who received >= the maximum tolerated dose had a significantly increased likelihood of complete or partial response (OR=4.35 and OR=5.57, respectively). No significant differences in time to progression (TTP) were seen.","sentence":"UGT1A1 *1/*28 is associated with decreased dose of irinotecan in people with Colorectal Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5176308","article_title":"Influence of Polymorphisms in the HTR3A and HTR3B Genes on Experimental Pain and the Effect of the 5-HT3 Antagonist Granisetron","article_path":"articles/PMC5176308.md","variant_annotation_id":1448995554,"variant_haplotypes":"rs1062613","gene":"HTR3A","drugs":"granisetron","pmid":28002447,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype CC is not associated with response to granisetron in healthy individuals as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995836,"variant_haplotypes":"rs833069","gene":"VEGFA","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2794921","article_title":"A Genome-Wide Association Study of Citalopram Response in Major Depressive Disorder","article_path":"articles/PMC2794921.md","variant_annotation_id":981502459,"variant_haplotypes":"rs809736","gene":"RORA","drugs":"citalopram","pmid":19846067,"phenotype_category":"Efficacy","significance":"no","notes":"It was also associated with remission. Neither association was significant after correction (430,198 SNPs tested). Frequencies listed below are for responders vs. nonresponders. Authors point out the lack of placebo control.","sentence":"Allele G is associated with increased response to citalopram in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003351,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There is no association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: TT +CT 0.41 (0.09\u201334.05)) vs. CC (0.59 (0.14\u201341.63)). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotypes CT + TT are not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC10565537","article_title":"Effects of CYP3A4 and CYP2C9 genotype on systemic anastrozole and fulvestrant concentrations in SWOG S0226","article_path":"articles/PMC10565537.md","variant_annotation_id":1452234461,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"anastrozole","pmid":37615099,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"For CYP3A4, only the CYP3A4*22 variant was identified, and all carriers were heterozygous (CYP3A4*1/*22) and were assigned IM phenotype and CYP3A4 low activity\" \"In the primary analysis, there was no difference in systemic anastrozole concentrations between low and high CYP3A4 activity phenotype groups (p = 0.13; Table 2 & Figure 1A). However, the posthoc analysis revealed the expected association of low CYP3A4 activity with higher anastrozole concentration in the anastrozole-only arm\"","sentence":"CYP3A4 *1/*22 (assigned as intermediate metabolizer phenotype) is associated with decreased concentrations of anastrozole in people with Breast Neoplasms and Neoplasm Metastasis as compared to CYP3A4 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*1/*22","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Breast Neoplasms, Other:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4636889","article_title":"Polymorphisms within the human leucocyte antigen-E gene and their associations with susceptibility to rheumatoid arthritis as well as clinical outcome of anti-tumour necrosis factor therapy","article_path":"articles/PMC4636889.md","variant_annotation_id":1447947702,"variant_haplotypes":"rs1264457","gene":"HLA-E","drugs":"adalimumab, certolizumab pegol, etanercept, glucocorticoids, infliximab, methotrexate","pmid":26307125,"phenotype_category":"Efficacy","significance":"yes","notes":"Response measured after 12 weeks of treatment. Alleles described as HLA-E *01:03:01 and *01:03:02.","sentence":"Genotype AA is associated with increased response to adalimumab, certolizumab pegol, etanercept, glucocorticoids, infliximab or methotrexate in women with Arthritis, Rheumatoid as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6562943","article_title":"Patients carrying CYP2C8*3 have shorter systemic paclitaxel exposure","article_path":"articles/PMC6562943.md","variant_annotation_id":1450186361,"variant_haplotypes":"CYP2C8*4","gene":"CYP2C8","drugs":"paclitaxel","pmid":30520341,"phenotype_category":"Metabolism/PK","significance":"no","notes":"as measured by time above threshold concentration. CYP2C8*1/*4 or CYP2C8*4/*4 mean = 10.25 h, *1/*1 mean = 11.03 h.","sentence":"CYP2C8 *4 is not associated with increased exposure to paclitaxel in women with Breast Neoplasms.","alleles":"*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2949522","article_title":"Gamma-glutamyl carboxylase and its influence on warfarin dose","article_path":"articles/PMC2949522.md","variant_annotation_id":769168957,"variant_haplotypes":"rs11676382","gene":"GGCX","drugs":"warfarin","pmid":20694283,"phenotype_category":"Dosage","significance":"yes","notes":"This variant was associated with a 6.1% reduction in warfarin dose per G allele.The clinical impact was modest.","sentence":"Allele G is associated with decreased dose of warfarin as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC9537548","article_title":"A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients","article_path":"articles/PMC9537548.md","variant_annotation_id":1451919608,"variant_haplotypes":"rs11188082","gene":"CYP2C19","drugs":"warfarin","pmid":36210801,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"measured as decreased S-warfarin/R-warfarin ratio and using a genome wide significance threshold of < 3.846 \u00d7 10\u22129. Effect direction from supplementary table S14.","sentence":"Allele T is associated with decreased metabolism of warfarin in people with Atrial Fibrillation, venous thromboembolism or Heart Valve Diseases as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation, Other:Venous thromboembolism, Other:Heart Valve Diseases","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3672984","article_title":"Association of a Single-Nucleotide Polymorphism in the Pregnane X Receptor (PXR 63396C\u2192T) with Reduced Concentrations of Unboosted Atazanavir","article_path":"articles/PMC3672984.md","variant_annotation_id":1448617361,"variant_haplotypes":"rs2472677","gene":"NR1I2","drugs":"atazanavir","pmid":18831695,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Median Ctrough was lower in individuals with the TT genotype in cohort A (N=47) versus CC+CT genotypes (34 ng/mL [IQR, 25\u201363 ng/mL] vs. 152 ng/mL (IQR, 47\u2013388 ng/mL; P = .001). In cohort B the TT genotype was also associated with sub-therapeutic ATV concentrations (<150 ng/mL).","sentence":"Genotype TT is associated with decreased concentrations of atazanavir in people with HIV Infections as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3703617","article_title":"Polymorphisms of the \u00b5-opioid receptor and dopamine D4 receptor genes and subjective responses to alcohol in the natural environment","article_path":"articles/PMC3703617.md","variant_annotation_id":1450812611,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":20141248,"phenotype_category":"Efficacy","significance":"yes","notes":"Carriers of the G allele reported significantly higher vigor scores and significantly lower negative mood scores after drinking as compared with AA subjects.","sentence":"Genotypes AG + GG are associated with increased response to ethanol as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC8975736","article_title":"Identification of sex-specific genetic associations in response to opioid analgesics in a White, non-Hispanic cohort from Southeast Minnesota","article_path":"articles/PMC8975736.md","variant_annotation_id":1451692660,"variant_haplotypes":"rs1056837","gene":"CYP1B1","drugs":"codeine, tramadol","pmid":35102242,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased clinical benefit to codeine or tramadol in men with Pain as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in men with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4375304","article_title":"Inherited NUDT15 Variant Is a Genetic Determinant of Mercaptopurine Intolerance in Children With Acute Lymphoblastic Leukemia","article_path":"articles/PMC4375304.md","variant_annotation_id":1444703337,"variant_haplotypes":"rs1142345","gene":"TPMT","drugs":"mercaptopurine","pmid":25624441,"phenotype_category":"Dosage","significance":"yes","notes":"Decreased dosage was likely to be due to increased toxicity. The authors also calculated a genetic risk score based on genotype at rs1142345 and at rs116855232. Patients who were homozygous wild-type at both SNPs had the lowest genetic risk score and patients who were homozygous for the variant allele at either SNP had the highest genetic risk score. There was an inverse significant association between genetic risk score and dose reduction of mercaptopurine.","sentence":"Genotype CC is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862254,"variant_haplotypes":"rs165728","gene":"ARVCF, COMT","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs2075507,rs7287550, rs5746849, rs737866, rs6269, rs2239393, rs4818, rs4680, rs174699, rs740603). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here.","sentence":"Allele T is associated with decreased dose of morphine in people with Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC8263746","article_title":"NUDT15 polymorphism influences the metabolism and therapeutic effects of acyclovir and ganciclovir","article_path":"articles/PMC8263746.md","variant_annotation_id":1451491077,"variant_haplotypes":"NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*5","gene":"NUDT15","drugs":"acyclovir","pmid":34234136,"phenotype_category":"Efficacy","significance":"yes","notes":"The degrees of loss of NUDT15 activity is associated with improved anti-CMV effect of acyclovir. Patients with low NUD15 activity in either donor or recipient cells showed the greatest protection against CMV by ACY treatment, with viremia frequency of 20%.","sentence":"NUDT15 *2/*2 +*2/*3 +*3/*3 + *5/*5 (assigned as poor metabolizer phenotype) are associated with increased response to acyclovir as compared to NUDT15 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*2/*2 +*2/*3 +*3/*3 + *5/*5","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3249179","article_title":"The relationship between clinical pharmacokinetics of aripiprazole and CYP2D6 genetic polymorphism: effects of CYP enzyme inhibition by coadministration of paroxetine or fluvoxamine","article_path":"articles/PMC3249179.md","variant_annotation_id":1183697486,"variant_haplotypes":"CYP2D6*1, CYP2D6*10, CYP2D6*21","gene":"CYP2D6","drugs":"aripiprazole","pmid":21739267,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"The coadministration of paroxetine caused a much larger decrease in aripiprazole metabolism in extensive metabolizers as compared to intermediate metabolizers (CL/F decrease: 58% v 23%; Cmax increase: 39% v 27%; and AUC increase: 140% v 30%; respectively).","sentence":"CYP2D6 *1/*1 + *1/*10 (assigned as normal metabolizer phenotype) are associated with decreased metabolism of aripiprazole in healthy individuals also being given paroxetine as compared to CYP2D6 *10/*10 + *10/*21 (assigned as intermediate metabolizer phenotype) .","alleles":"*1/*1 + *1/*10","specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":"Other:also being given paroxetine","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*10/*10 + *10/*21","comparison_metabolizer_types":"intermediate metabolizer"} +{"pmcid":"PMC4015881","article_title":"Association of GGCX gene polymorphism with warfarin dose in atrial fibrillation population in Xinjiang","article_path":"articles/PMC4015881.md","variant_annotation_id":1184513812,"variant_haplotypes":"rs2592551","gene":"GGCX","drugs":"warfarin","pmid":24148610,"phenotype_category":"Dosage","significance":"yes","notes":"Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AA + AG is associated with increased dose of warfarin in people with Atrial Fibrillation as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928150,"variant_haplotypes":"rs4633","gene":"COMT","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"The T allele was initially significantly more frequent in patients designated as non-responders to risperidone (i.e. <50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.","sentence":"Allele T is associated with decreased response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144274,"variant_haplotypes":"rs209474","gene":null,"drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3775655","article_title":"The pharmacokinetics of codeine and its metabolites in Blacks with sickle cell disease","article_path":"articles/PMC3775655.md","variant_annotation_id":1447963867,"variant_haplotypes":"CYP2D6*17","gene":"CYP2D6","drugs":"codeine","pmid":19357842,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Plasma concentrations of the codeine metabolites M3G and M6G were significantly reduced in carriers of this allele, compared to other genotypes examined (non-carriers, *29 and *41 carriers).","sentence":"CYP2D6 *17 is associated with decreased metabolism of codeine in people with Anemia, Sickle Cell.","alleles":"*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Anemia, Sickle Cell","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4931969","article_title":"Childhood asthma exacerbations and the Arg-16 beta2 receptor polymorphism: a meta-analysis stratified by treatment","article_path":"articles/PMC4931969.md","variant_annotation_id":1447680633,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"corticosteroids","pmid":26774659,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to corticosteroids in children with Asthma as compared to genotype GG.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11677811","article_title":"Pharmacogenetics of Neoadjuvant MAP Chemotherapy in Localized Osteosarcoma: A Study Based on Data from the GEIS-33 Protocol","article_path":"articles/PMC11677811.md","variant_annotation_id":1452809560,"variant_haplotypes":"rs1799793","gene":"ERCC2","drugs":"cisplatin, doxorubicin, methotrexate","pmid":39771563,"phenotype_category":"Efficacy","significance":"no","notes":"Alleles complemented. \"For ERCC2 rs1799793, 45.2% of patients with the GG genotype presented poor pathological response, compared to 74.3% of patients with the GA or AA genotypes (p = 0.02 in a dominant model).\" \"Multivariate analyses including these two SNPs and age, gender and tumor site as covariates showed significant associations for both genetic variants: ABCC2 rs2273697 (OR 12.3, 95% CI 2.3\u201366.2; p = 0.003) and ERCC2 rs1799793 (OR 9.6, 95% CI 2.1\u201343.2; p = 0.003). However, these associations were not statistically significant after the Bonferroni test.\" \"Pathological response classification was dichotomized into good response (tumor necrosis \u2265 90%) and poor response (tumor necrosis (<90%). \"","sentence":"Genotypes CT + TT is associated with decreased clinical benefit to cisplatin, doxorubicin and methotrexate in people with Osteosarcoma as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3114195","article_title":"IL28B genetic variations are associated with high sustained virological response (SVR) of interferon-\u03b1 plus ribavirin therapy in Taiwanese chronic HCV infection","article_path":"articles/PMC3114195.md","variant_annotation_id":1444705502,"variant_haplotypes":"rs11881222","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":21346780,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype has decreased association with sustained virological response (SVR).","sentence":"Genotypes AG + GG is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3260990","article_title":"Smoking Cessation Pharmacogenetics: Analysis of Varenicline and Bupropion in Placebo-Controlled Clinical Trials","article_path":"articles/PMC3260990.md","variant_annotation_id":1450813798,"variant_haplotypes":"rs7164594","gene":"HYKK","drugs":"varenicline","pmid":22048466,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CT or TT genotypes were more likely to have quit smoking in weeks 9-12 of varenicline treatment. However, this association was not seen when smoking abstinence up to week 52 of follow-up was analyzed.","sentence":"Genotypes CT + TT are associated with increased response to varenicline in people with Tobacco Use Disorder as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6171340","article_title":"Pharmacogenetics of Antiepileptic Drug Efficacy in Childhood Absence Epilepsy","article_path":"articles/PMC6171340.md","variant_annotation_id":1451134060,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"lamotrigine","pmid":28165634,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by minor allele frequency in not\u2013seizure\u2010free vs seizure-free children. Alleles complemented to plus chromosomal strand.","sentence":"Allele A is associated with decreased clinical benefit to lamotrigine in children with Epilepsy as compared to allele C.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Efficacy:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5734971","article_title":"Genetic Analysis of Mu and Kappa Opioid Receptor and COMT Enzyme in Cancer Pain Tunisian Patients Under Opioid Treatment","article_path":"articles/PMC5734971.md","variant_annotation_id":1449182301,"variant_haplotypes":"rs1051660","gene":"OPRK1","drugs":"morphine","pmid":29259946,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.; An association was observed between this variant and a patient's need to escalate their dose of morphine, but there was no association between this variant and a patient's initial dose requirement.","sentence":"Allele A is associated with decreased dose of morphine in people with Pain as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":699639192,"variant_haplotypes":"rs2284220","gene":"CRHR2","drugs":"salbutamol","pmid":18408560,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with decreased response to salbutamol in people with Asthma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC9610285","article_title":"Polymorphism of Drug Transporters, Rather Than Metabolizing Enzymes, Conditions the Pharmacokinetics of Rasagiline","article_path":"articles/PMC9610285.md","variant_annotation_id":1451928900,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"rasagiline","pmid":36297437,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"and lower AUC0-\u221e/DW and Cmax which remained significant after Bonferroni.","sentence":"Genotype AA is associated with decreased concentrations of rasagiline in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491521,"variant_haplotypes":"rs871606","gene":"CHIC2","drugs":"atenolol","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in diastolic blood pressure (DBP) after 9 weeks of treatment.","sentence":"Allele T is not associated with response to atenolol in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5324942","article_title":"The effect of CYP2C9 and VKORC1 genetic polymorphisms on warfarin dose requirements in a pediatric population","article_path":"articles/PMC5324942.md","variant_annotation_id":1448104673,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":27182616,"phenotype_category":"Dosage","significance":"yes","notes":"The average daily warfarin dose required for maintenance therapy in patients with the CYP2C9*3was 3.98\u00b11.13, whereas it was 4.40\u00b11.39 in those without this mutation.","sentence":"CYP2C9 *3 is associated with decreased dose of warfarin in children as compared to CYP2C9 *1/*1.","alleles":"*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC10917709","article_title":"Cytotoxic T lymphocyte\u2010associated antigen\u20104 (CTLA-4) gene polymorphisms in a cohort of Egyptian patients with immune thrombocytopenia (ITP)","article_path":"articles/PMC10917709.md","variant_annotation_id":1452421300,"variant_haplotypes":"rs3087243","gene":"CTLA4","drugs":"avatrombopag, corticosteroids, eltrombopag, rituximab","pmid":38485815,"phenotype_category":"Efficacy","significance":"no","notes":"\"There was no correlation between CTLA-4 (rs: 231775 and rs: 3087243) A/G SNPs were not correlated to the response to all lines of therapy assessed (corticosteroids, thrombopoietin receptor agonists, splenectomy, and rituximab).\"","sentence":"Allele G is not associated with increased clinical benefit to avatrombopag, corticosteroids, eltrombopag or rituximab Thrombocytopenia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":"Other:Thrombocytopenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4087845","article_title":"Pharmacodynamic and kinetic effect of rabeprazole on serum gastrin level in relation to CYP2C19 polymorphism in Chinese Hans","article_path":"articles/PMC4087845.md","variant_annotation_id":1183622326,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"rabeprazole","pmid":16937451,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in median 24 hour intragastric pH or serum gastrin area under the concentration-time curve from 0-24 hours (AUC0-24) were seen between the two genotype groups. Subjects were given rabeprazole for 8 days; 24 hour intragastric pH and serum gastrin AUC were measured on day 1 and day 8 after rabeprazole administration. Please note that the *2 and *3 alleles were referred to by their previous designations (CYP2C19*m1 and *m2, respectively).","sentence":"CYP2C19 *1/*1 is not associated with response to rabeprazole in healthy individuals as compared to CYP2C19 *1/*2 + *1/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161652,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"methadone","pmid":21589866,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in concentrations of (R)-, (S)- or (R,S)-methadone between genotypes. No details about which specific variants/alleles were tested for.","sentence":"CYP2C9 *1/*3 + *2/*2 + *2/*3 + *3/*3 are not associated with concentrations of methadone in people with Opioid-Related Disorders as compared to CYP2C9 *1/*1 + *1/*2.","alleles":"*1/*3 + *2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1450950820,"variant_haplotypes":"rs1801159","gene":"DPYD","drugs":"FOLFIRI, FOLFOX, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate, overall survival or time to progression in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01.","sentence":"Genotypes CC + CT is not associated with response to FOLFIRI, FOLFOX, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449716007,"variant_haplotypes":"rs2302663","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC1773505","article_title":"Safe treatment of thiopurine S-methyltransferase deficient Crohn\u2019s disease patients with azathioprine","article_path":"articles/PMC1773505.md","variant_annotation_id":1184174025,"variant_haplotypes":"TPMT*1, TPMT*3A","gene":"TPMT","drugs":"azathioprine","pmid":12477776,"phenotype_category":"Dosage, Efficacy, Toxicity","significance":"not stated","notes":"Toxicity could be avoided and treatment was still effective if the azathioprine dose was dramatically lowered.","sentence":"TPMT *3A/*3A is associated with decreased dose of azathioprine in people with Crohn Disease as compared to TPMT *1/*1.","alleles":"*3A/*3A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Crohn Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC10159199","article_title":"Effect of ERCC1 polymorphisms on the response to platinum-based chemotherapy: A systematic review and meta-analysis based on Asian population","article_path":"articles/PMC10159199.md","variant_annotation_id":1452094881,"variant_haplotypes":"rs3212986","gene":"ERCC1","drugs":"Platinum compounds","pmid":37141338,"phenotype_category":"Efficacy","significance":"no","notes":"Authors perform meta-analysis using several models looking at response and OS and subgroup analysis by cancer type.","sentence":"Genotypes AA + AC is not associated with increased clinical benefit to Platinum compounds in people with Neoplasms as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC11852071","article_title":"Pharmacogenetics and Pharmacokinetics of Moxifloxacin in MDR-TB Patients in Indonesia: Analysis for ABCB1 and SLCO1B1","article_path":"articles/PMC11852071.md","variant_annotation_id":1452864447,"variant_haplotypes":"rs4149015","gene":"SLCO1B1","drugs":"moxifloxacin","pmid":40001447,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"This study found no association between genotype variations in ABCB1 and SLCO1B1 and the AUC0\u201324 and Cmax of moxifloxacin. Still, the analysis on SLCO1B1 rs4149015 revealed a trend that patients with the GA genotype exhibited a higher moxifloxacin AUC0\u201324 and Cmax than those with the GG genotype (Table 4). \"","sentence":"Genotype AG is associated with increased exposure to moxifloxacin in people with Drug Resistance and Tuberculosis as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Efficacy:Drug Resistance, Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3273458","article_title":"Deciphering the Interleukin 28B Variants That Better Predict Response to Pegylated Interferon-\u03b1 and Ribavirin Therapy in HCV/HIV-1 Coinfected Patients","article_path":"articles/PMC3273458.md","variant_annotation_id":1444705070,"variant_haplotypes":"rs11881222","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":22328925,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Genotype AA is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C and HIV Infections as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection, Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC9537548","article_title":"A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients","article_path":"articles/PMC9537548.md","variant_annotation_id":1451918980,"variant_haplotypes":"rs7900194","gene":"CYP2C9","drugs":"warfarin","pmid":36210801,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"for S-warfarin stereoisomer in particular, measured as increased S-warfarin/R-warfarin ratio and decreased S-7OH-warfarin/S-warfarin and using a Bonferroni-adjusted replication significance threshold p < 3.21 \u00d7 10\u22124. (CYP2C9*8)","sentence":"Allele A is associated with decreased metabolism of warfarin in people with Atrial Fibrillation, venous thromboembolism or Heart Valve Diseases as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation, Other:Venous thromboembolism, Other:Heart Valve Diseases","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451727960,"variant_haplotypes":"rs77235035","gene":"PEAR1","drugs":"ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"this was only significant for AA vs AC, but not AA vs CC. Authors state \"A/A carriers than among A/C carriers (P ANOVA < 0.05), but not among C/C carriers; hence, this SNP was excluded from multivariate analysis\"","sentence":"Genotype AA is associated with decreased concentrations of ticagrelor in healthy individuals as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC1978168","article_title":"The Effect of CYP2D6 polymorphisms on the Response to Pain Treatment for Pediatric Sickle Cell Pain Crisis","article_path":"articles/PMC1978168.md","variant_annotation_id":982046905,"variant_haplotypes":"CYP2D6*1, CYP2D6*4","gene":"CYP2D6","drugs":"codeine","pmid":17517247,"phenotype_category":"Efficacy","significance":"yes","notes":"Pediatric patients with severe sickle cell disease who have failed codeine therapy for a pain crisis while taking hydroxyurea were found to be more likely to have a reduced function allele (including *4, *5, *6, *17, *40) as compared to those with mild disease, likely due to a decreased conversion of codeine to morphine. Allele frequencies were not reported. Reduced function alleles were grouped for analysis.","sentence":"CYP2D6 *4 is associated with decreased response to codeine in children with Anemia, Sickle Cell as compared to CYP2D6 *1.","alleles":"*4","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Anemia, Sickle Cell","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC11160041","article_title":"CBR1 and CBR3 pharmacogenetics and their influence on doxorubicin disposition in Asian breast cancer patients","article_path":"articles/PMC11160041.md","variant_annotation_id":1448105620,"variant_haplotypes":"rs9024","gene":"CBR1","drugs":"doxorubicin","pmid":19016765,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype GG is associated with decreased concentrations of doxorubicin in people with Breast Neoplasms as compared to genotype AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} +{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":699638975,"variant_haplotypes":"rs4148947","gene":"CHST3","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with dbSNP, actual base not listed in paper, since frequencies are close have low confidence in this allele assignment)","sentence":"Allele T is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3909010","article_title":"Pharmacogenetic-Based Efavirenz Dose Modification: Suggestions for an African Population and the Different CYP2B6 Genotypes","article_path":"articles/PMC3909010.md","variant_annotation_id":1183771932,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":24497997,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Apparent clearance was 1.74 fold higher for CYP2B6 *1/*6 compared to CYP2B6 *6/*6.","sentence":"CYP2B6 *1/*6 is associated with increased metabolism of efavirenz in people with HIV as compared to CYP2B6 *6/*6.","alleles":"*1/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*6/*6","comparison_metabolizer_types":null} +{"pmcid":"PMC11158672","article_title":"Influence of ABCB1 and ABCG2 polymorphisms on doxorubicin disposition in Asian breast cancer patients","article_path":"articles/PMC11158672.md","variant_annotation_id":769250973,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"doxorubicin","pmid":18377430,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Significance given for the haplotype of ABCB1 c.1236C>T, c.2677G>A/T, and c.3435C>T (rs1128503, rs2032582 and rs1045642) which was associated with increased drug exposure and reduced clearance. Patients harboring the CC-GG-CC genotypes had significantly lower peak plasma concentrations of doxorubicinol compared to patients who had TT-TT-TT genotypes (P = 0.03).","sentence":"Genotype AA is associated with decreased metabolism of doxorubicin in people with Breast Neoplasms as compared to genotype CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4693492","article_title":"Personalizing initial calcineurin inhibitor dosing by adjusting to donor CYP3A\u2010status in liver transplant patients","article_path":"articles/PMC4693492.md","variant_annotation_id":1446899545,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"cyclosporine, tacrolimus","pmid":26271661,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"The genotype refers to the genotype of the donor liver. Patients who were recipients of a liver transplantation from a donor with the CC genotype AND low or intermediate CYP3A4 mRNA levels had significantly higher plasma concentrations of cyclosporine or tacrolimus as compared to patients who whose liver donors had the rs776746 CC genotype AND high CYP3A4 mRNA levels, or rs776746 CT/TT genotypes regardless of CYP3A4 mRNA levels.","sentence":"Genotype CC is associated with increased concentrations of cyclosporine or tacrolimus in people with liver transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755929,"variant_haplotypes":"rs1057451","gene":"LRP1","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2949522","article_title":"Gamma-glutamyl carboxylase and its influence on warfarin dose","article_path":"articles/PMC2949522.md","variant_annotation_id":769168963,"variant_haplotypes":"rs12714145","gene":"GGCX","drugs":"warfarin","pmid":20694283,"phenotype_category":"Dosage","significance":"no","notes":"This variant was not a significant predictor of warfarin dose","sentence":"Allele T is not associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359466,"variant_haplotypes":"rs5320","gene":"DBH","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of heroin in people with Heroin Dependence as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6493603","article_title":"Effects of SCN1A and GABA Receptor Genetic Polymorphisms on Carbamazepine Tolerability and Efficacy in Chinese Patients with Partial Seizures: 2\u2010Year Longitudinal Clinical Follow\u2010Up","article_path":"articles/PMC6493603.md","variant_annotation_id":982023280,"variant_haplotypes":"rs3812718","gene":"SCN1A","drugs":"carbamazepine","pmid":22591328,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CC and CT genotypes have increased tolerability to carbamazepine. Tolerability was assessed by retention rates, or the proportion of patients that continued to take carbamazepine for seizures over the preceding 3 months. Patients were assessed every 3 months for 24 months. The retention rates for the CC + CT genotypes were significantly greater than the retention rate for the TT genotype during months 9 - 15 of treatment. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CT are associated with increased response to carbamazepine in people with Epilepsy as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC1251635","article_title":"A C1173T Dimorphism in the VKORC1 Gene Determines Coumarin Sensitivity and Bleeding Risk","article_path":"articles/PMC1251635.md","variant_annotation_id":1043737589,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"acenocoumarol, phenprocoumon","pmid":16201835,"phenotype_category":"Dosage, Toxicity","significance":"yes","notes":"Patients homozygous for the G allele required significantly higher doses to reach stable anticoagulation as compared to patients carrying the A allele. There was a gene dose effect: GG>AG>AA. It was also seen that patients carrying the A allele were at significantly higher risk of developing bleeding as compared to patients homozygous for the G allele (OR below is for major hemorrhage for carriers of at least one A allele). Patients taking phenprocoumon seemed to be more likely to achieve stability in their dose, but were also more likely to develop bleeding than patients receiving acenocoumarol.","sentence":"Genotype GG is associated with increased dose of acenocoumarol or phenprocoumon as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5519037","article_title":"Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer","article_path":"articles/PMC5519037.md","variant_annotation_id":1448636673,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"everolimus","pmid":28727815,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note: alleles have been complemented to the positive chromosomal strand.","sentence":"Genotypes AA + AG are not associated with concentrations of everolimus in women with Breast Neoplasms as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3107291","article_title":"Human Mu Opioid Receptor (OPRM1 A118G) polymorphism is associated with brain mu-opioid receptor binding potential in smokers","article_path":"articles/PMC3107291.md","variant_annotation_id":1450812933,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"nicotine","pmid":21576462,"phenotype_category":"Efficacy","significance":"no","notes":"There was no significant difference in subjective reward from nicotine between the genotype groups.","sentence":"Allele G is not associated with response to nicotine as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5483245","article_title":"Independent and interactive effects of OPRM1 and DAT1 polymorphisms on alcohol consumption and subjective responses in social drinkers","article_path":"articles/PMC5483245.md","variant_annotation_id":1450826488,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":28376280,"phenotype_category":"Toxicity","significance":"yes","notes":"Subjects carrying the G allele had a significantly decreased odds ratio for reporting more heavy drinking days compared to subjects with the AA genotype. There was no significant association between rs1799971 and number of drinks per drinking day or number of drinking days.","sentence":"Genotypes AG + GG is associated with decreased exposure to ethanol in healthy individuals as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3383686","article_title":"Meta-Analysis on Pharmacogenetics of Platinum-Based Chemotherapy in Non Small Cell Lung Cancer (NSCLC) Patients","article_path":"articles/PMC3383686.md","variant_annotation_id":982046503,"variant_haplotypes":"rs1695","gene":"GSTP1","drugs":"Platinum compounds","pmid":22761669,"phenotype_category":"Efficacy","significance":"no","notes":"This association was only significant in the Asian population. When studied together with the Caucasian population significance was lost.","sentence":"Genotype AA is associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703536,"variant_haplotypes":"rs3213619","gene":"ABCB1","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype was not significantly with associated with likelihood of achieving complete molecular response (CMR), major cytogenetic response (MCgR) or complete cytogenetic response (CCgR) within 12 months. CMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; CMR was a ratio <= 0.0032%. Cytogenetic response was based on bone marrow assessment, where CCgR was 0% Ph+ cells. MCgR was defined as achieving either a complete or partial cytogenetic response (CCgR; PCgR), where PCgR was >0 to 35% Ph+ cells.","sentence":"Genotype AA is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3836273","article_title":"The SCARB1 gene is associated with lipid response to dietary and pharmacological interventions","article_path":"articles/PMC3836273.md","variant_annotation_id":982037675,"variant_haplotypes":"rs4238001","gene":"SCARB1","drugs":"fenofibrate","pmid":18542840,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects carrying the T allele had a significantly greater decrease in triglyceride levels and a significantly greater increase in high density lipoprotein cholesterol (HDL-C) levels after fenofibrate treatment for 3 weeks, as compared to CC homozygotes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359501,"variant_haplotypes":"rs27072","gene":"SLC6A3","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of methadone in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501809,"variant_haplotypes":"rs4148740","gene":"ABCB1","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as measured by a higher carbamazepine-10,11-transdihydrodiol:carbamazepine-10-11 epoxide metabolite ratio. This association was only significant in the African American patients and not in Caucasian patients.","sentence":"Genotype AG is associated with increased metabolism of carbamazepine in people with Epilepsy as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC1975838","article_title":"Genetic-based dosing in orthopedic patients beginning warfarin therapy","article_path":"articles/PMC1975838.md","variant_annotation_id":1183699310,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":17387222,"phenotype_category":"Dosage","significance":"yes","notes":"*2 was associated with 17.4 %(95% CI 8.3-25.6%) reduction in therapeutic dose (defined as the dose that gave an INR in the target therapeutic range after 7 consecutive days) per copy.","sentence":"CYP2C9 *2 is associated with decreased dose of warfarin in people with total knee or hip arthroplasty as compared to CYP2C9 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:total knee or hip arthroplasty","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5101708","article_title":"Low heritability in pharmacokinetics of talinolol: a pharmacogenetic twin study on the heritability of the pharmacokinetics of talinolol, a putative probe drug of MDR1 and other membrane transporters","article_path":"articles/PMC5101708.md","variant_annotation_id":1448612424,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"talinolol","pmid":27825374,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was a twin study of monozygotic and dizygotic twins.","sentence":"Allele A is not associated with clearance of talinolol in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5862636","article_title":"Integrated analysis of genetic variation and gene expression reveals novel variant for increased warfarin dose requirement in African Americans","article_path":"articles/PMC5862636.md","variant_annotation_id":1448573250,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":28135054,"phenotype_category":"Dosage","significance":"yes","notes":"in African American patients.","sentence":"Genotypes CT + TT are associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3880259","article_title":"Association of ABCC2 \u221224C>T Polymorphism with High-Dose Methotrexate Plasma Concentrations and Toxicities in Childhood Acute Lymphoblastic Leukemia","article_path":"articles/PMC3880259.md","variant_annotation_id":1184175504,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"methotrexate","pmid":24404132,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"All patients received four cycles of high dose MTX (5000mg per square meter of body surface area). 1/10th of the dose was administered over 30 minutes (rapid infusion) and the rest was administered continuously over 24hrs. Leucovorin rescue was administered every 6hrs starting 48 hrs after initiation of MTX infusion.","sentence":"Allele T is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7115450","article_title":"Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial","article_path":"articles/PMC7115450.md","variant_annotation_id":1452053742,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"escitalopram","pmid":31721892,"phenotype_category":"Efficacy","significance":"no","notes":"The 5-HTTLPR was not associated with significant differences in response (HAMD) in patients receiving escitalopram.","sentence":"SLC6A4 HTTLPR long form (L allele) is not associated with response to escitalopram in people with Depression as compared to SLC6A4 HTTLPR short form (S allele).","alleles":"HTTLPR long form (L allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR short form (S allele)","comparison_metabolizer_types":null} +{"pmcid":"PMC6714673","article_title":"Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients","article_path":"articles/PMC6714673.md","variant_annotation_id":1449251734,"variant_haplotypes":"rs6046","gene":"F7","drugs":"warfarin","pmid":28049362,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5604731","article_title":"Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients","article_path":"articles/PMC5604731.md","variant_annotation_id":827863309,"variant_haplotypes":"rs11545078","gene":"GGH","drugs":"methotrexate","pmid":22450926,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981739388,"variant_haplotypes":"rs292449","gene":"NEDD4L","drugs":"hydrochlorothiazide","pmid":23353631,"phenotype_category":"Efficacy","significance":"yes","notes":"CC and CG patients had significantly greater reduction in Systolic and in Diastolic Blood pressure than those with GG genotype. A significant association was also seen between the haplotype rs4149601G/rs292449C and greater response to hydrachlorothiazide in Whites. The GC SNP creates ambiguity in knowing which strand is being reported on. The SNP is in a positive chromosomal strand gene, so hopefully the genotypes are being reported in relation to the positive strand.","sentence":"Genotypes CC + CG are associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5346382","article_title":"Effects of FMO3 Polymorphisms on Pharmacokinetics of Sulindac in Chinese Healthy Male Volunteers","article_path":"articles/PMC5346382.md","variant_annotation_id":1448613020,"variant_haplotypes":"rs2266782","gene":"FMO3","drugs":"sulindac","pmid":28331852,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Measures of exposure were AUC, Cmax, Tmax, and T1/2.","sentence":"Genotype AA is associated with increased exposure to sulindac in healthy individuals as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114760,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and AUC0-12 of lopinavir or ritonavir in patients treated with lopinavir/ritonavir. Variant referred to in the paper as A6986G.","sentence":"Allele C is not associated with exposure to lopinavir or ritonavir in children with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896040,"variant_haplotypes":"rs239022","gene":"LINC00478","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5807179","article_title":"Genome-wide association study of a nicotine metabolism biomarker in African American smokers: impact of chromosome 19 genetic influences","article_path":"articles/PMC5807179.md","variant_annotation_id":1448996481,"variant_haplotypes":"rs12459249","gene":null,"drugs":"nicotine","pmid":28921760,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Nicotine metabolism was assessed by measuring participants' nicotine metabolite ratio.","sentence":"Allele C is associated with decreased metabolism of nicotine as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3506814","article_title":"Pharmacogenetic Influence of LOC387715/HTRA1 on the Efficacy of Bevacizumab Treatment for Age-Related Macular Degeneration in a Korean Population","article_path":"articles/PMC3506814.md","variant_annotation_id":1183699677,"variant_haplotypes":"rs10490924","gene":"ARMS2","drugs":"bevacizumab","pmid":23204795,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in change in central macular thickness (measured by optical coherence tomography) were seen between any the genotypes, over either 6 or 12 months of treatment.","sentence":"Genotypes GT + TT are not associated with response to bevacizumab in people with Macular Degeneration as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4304713","article_title":"Prediction Formulas for Individual Opioid Analgesic Requirements Based on Genetic Polymorphism Analyses","article_path":"articles/PMC4304713.md","variant_annotation_id":1444694062,"variant_haplotypes":"rs11959113","gene":null,"drugs":"fentanyl","pmid":25615449,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"A formula was developed to predict individual opioid use during the first 24-h post-operative period for patients who underwent craniofacial surgery. The post-operative period R squared values were higher when genotype information was included. In the first group fentanyl was administered by IV, on demand, with a bolus dose of 20 micrograms and a 10 minute lockout period 24-h post-op.","sentence":"Genotype AA is associated with increased dose of fentanyl in people with Pain, Postoperative as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Side Effect:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767407,"variant_haplotypes":"rs3002130","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele C is not associated with trough concentration of vancomycin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5763318","article_title":"Pharmacokinetics and Safety of Brexpiprazole Following Multiple\u2010Dose Administration to Japanese Patients With Schizophrenia","article_path":"articles/PMC5763318.md","variant_annotation_id":1451230740,"variant_haplotypes":"CYP2D6 intermediate metabolizer","gene":"CYP2D6","drugs":"brexpiprazole","pmid":28750151,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"15 and 6 patients were classified as NMs (genotypes including at least 1 active allele) and IMs (genotypes with 2 decreased-activity alleles or 1 decreased-activity allele and 1 inactive allele or 1decreased-activity allele and 1 unknown-activity allele). Metabolic activity was defined as the normal alleles *1 and *2, the decreased-activity alleles *10 and *41, the inactive alleles *4, *5, and *14A, and the unknown-activity alleles *14B, *18, and *21. For PK parameters of brexpiprazole, both Cmax/D and AUC24h/D were higher in IM patients than in EM patients. The Cmax and AUC24h in EM and IM patients of brexpiprazole following multiple administrations of brexpiprazole were 2.6\u20132.8 and 4.5\u20135.8 times higher, respectively, on day 14 compared with day 1 based on the accumulation index. CL/F waslower in IM patients than in EM patients.","sentence":"CYP2D6 intermediate metabolizer is associated with decreased metabolism of brexpiprazole in people with Schizophrenia as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":699639201,"variant_haplotypes":"rs255100","gene":"CRHR2","drugs":"salbutamol","pmid":18408560,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele of this variant is associated with reduced bronchodilator response in CAMP cohort. However, this association is not significant in the other two cohorts tested.","sentence":"Allele A is associated with decreased response to salbutamol in people with Asthma as compared to allele T.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114966,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association between this variant and clearance of ritonavir in patients treated with lopinavir/ritonavir. Variant referred to in the paper as T512C.","sentence":"Allele C is not associated with clearance of ritonavir in children with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356769,"variant_haplotypes":"rs28362491","gene":"NFKB1","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele (ATTG)1 is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele ATTGATTG.","alleles":"(ATTG)1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"ATTGATTG","comparison_metabolizer_types":null} +{"pmcid":"PMC5562097","article_title":"Race, Gender, and Genetic Polymorphism Contribute to Variability in Acetaminophen Pharmacokinetics, Metabolism, and Protein-Adduct Concentrations in Healthy African-American and European-American Volunteers","article_path":"articles/PMC5562097.md","variant_annotation_id":1450936406,"variant_haplotypes":"rs1042028","gene":"SULT1A1","drugs":"acetaminophen","pmid":28663312,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Metabolism here, refers to AUC ratio of Sulfate: APAP. Association was nominally significant initially, but did not remain statistically significant in multiple linear regression. The T allele is also referred to as the *2 allele. Please note: alleles have been complemented to the + chromosomal strand. This variant was originally mapped to rs9282861, which has now been merged into rs1042028.","sentence":"Genotype TT is not associated with decreased metabolism of acetaminophen in healthy individuals as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC10309098","article_title":"Pharmacogenetic interactions of efavirenz or rifampin and isoniazid with levonorgestrel emergency contraception during treatment of HIV or tuberculosis","article_path":"articles/PMC10309098.md","variant_annotation_id":1452472967,"variant_haplotypes":"NAT2 intermediate acetylator","gene":"NAT2","drugs":"levonorgestrel","pmid":37306344,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Study investigated the effect on steady-state drugs used to treat HIV or tuberculosis on the pharmacokinetics of single dose levonorgestrel. Association found in the cohort treated with Isoniazid and rifampin.; Intermediate acetylators were defined as heterozygous for the NAT2*5, *6, *7 or *14 alleles.","sentence":"NAT2 intermediate acetylator is not associated with clearance of levonorgestrel in women with Tuberculosis as compared to NAT2 rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate acetylator","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"rapid acetylator"} +{"pmcid":"PMC9298338","article_title":"No significant influence of OCT1 genotypes on the pharmacokinetics of morphine in adult surgical patients","article_path":"articles/PMC9298338.md","variant_annotation_id":1451648769,"variant_haplotypes":"rs72552763","gene":"SLC22A1","drugs":"morphine","pmid":34599645,"phenotype_category":"Dosage","significance":"no","notes":"Analyzed as part of haplotypes with rs12208357, rs34059508 and rs34130495. No significant association between haplotypes and PCA doses of morphine.","sentence":"Allele del is not associated with dose of morphine in people with Pain, Postoperative as compared to allele GAT.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GAT","comparison_metabolizer_types":null} +{"pmcid":"PMC4959996","article_title":"ABCC3 Genetic Variants are Associated with Postoperative Morphine-induced Respiratory Depression and Morphine Pharmacokinetics in Children","article_path":"articles/PMC4959996.md","variant_annotation_id":1450342045,"variant_haplotypes":"rs4148412","gene":"ABCC3","drugs":"morphine-3-glucuronide","pmid":26810133,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant was not significant in the spine surgery cohort. Increases in M6G were also observed but were not significant in either cohort. Alleles were described in paper as A and G, with AA for risk genotype.","sentence":"Genotype TT is associated with increased concentrations of morphine-3-glucuronide in children with tonsillectomy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:tonsillectomy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC2673121","article_title":"Relative contribution of CYP2C9 and VKORC1 genotypes and early INR response to the prediction of warfarin sensitivity during initiation of therapy","article_path":"articles/PMC2673121.md","variant_annotation_id":1447573633,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":19074728,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166015,"variant_haplotypes":"rs10420097","gene":"ZNF211","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele G is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5342670","article_title":"IL-3 and CTLA4 gene polymorphisms may influence the tacrolimus dose requirement in Chinese kidney transplant recipients","article_path":"articles/PMC5342670.md","variant_annotation_id":1448613226,"variant_haplotypes":"rs4646437","gene":"CYP3A4","drugs":"tacrolimus","pmid":28112181,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was seen for time 7, 30, and 90 days after transplantation. Exposure to CC was higher than CT, which was higher than TT.","sentence":"Genotype GG is associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003516,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Median concentrations of lumefantrine 7 days after beginning treatment with artemether-lumefantrine were not significantly different and no more likely to have median concentrations of lumefantrine >600 ng/ml between genotypes.","sentence":"Allele C is not associated with concentrations of lumefantrine in women with Malaria and Pregnancy as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Other:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238701,"variant_haplotypes":"rs11774231","gene":null,"drugs":"perphenazine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele C is associated with response to perphenazine in people with Schizophrenia.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451973946,"variant_haplotypes":"rs2046934","gene":"P2RY12","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":"no AA individuals were observed.","sentence":"Genotype AG is not associated with increased resistance to clopidogrel in people with Coronary Disease as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3603284","article_title":"Discordant Associations between SLCO1B1 521T\u2192C and Plasma Levels of Ritonavir-boosted Protease Inhibitors in AIDS Clinical Trials Group Study A5146","article_path":"articles/PMC3603284.md","variant_annotation_id":1451115880,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"amprenavir","pmid":23503447,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Association was significant in white patients treated with fosamprenavir only. Only 3 Hispanic patients carried the C allele, so statistical analysis could not be carried out. However, the authors note that these patients also tended to have low trough concentrations of amprenavir.","sentence":"Allele C is associated with decreased trough concentration of amprenavir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5378677","article_title":"A genetic variant in Rassf1a predicts outcome in mCRC patients treated with cetuximab plus chemotherapy: results from FIRE-3 and JACCRO 05 and 06 trials","article_path":"articles/PMC5378677.md","variant_annotation_id":1449750606,"variant_haplotypes":"rs3811715","gene":"WWTR1","drugs":"cetuximab","pmid":27698403,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in tumor response, progression-free survival or overall survival was seen between the genotype groups. Patients also receiving treatment with fluorouracil, leucovorin and irinotecan (FOLFIRI). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with response to cetuximab in people with Colorectal Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491528,"variant_haplotypes":"rs3184504","gene":"SH2B3","drugs":"hydrochlorothiazide","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in diastolic blood pressure (DBP) after 9 weeks of treatment.","sentence":"Allele T is not associated with response to hydrochlorothiazide in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4432150","article_title":"Influence of ABCC2 and ABCC4 Polymorphisms on Tenofovir Plasma Concentrations in Thai HIV-Infected Patients","article_path":"articles/PMC4432150.md","variant_annotation_id":1444703280,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"tenofovir","pmid":25801567,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes CT + TT is not associated with concentrations of tenofovir in people with HIV Infections as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4533232","article_title":"Investigation of CYP 3A5 and ABCB1 gene polymorphisms in the long-term following renal transplantation: Effects on tacrolimus exposure and kidney function","article_path":"articles/PMC4533232.md","variant_annotation_id":1447674287,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"tacrolimus","pmid":26622455,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in dose, trough concentrations or dose-adjusted trough concentrations of tacrolimus were seen between the genotype groups, when adjusting for the influence of the CYP3A5 *3/*3 genotype (i.e. individuals who were carriers of the *1/*3 genotype, or \"expressers\", were excluded from the analysis). Prior to adjustment for the influence of *3/*3, those with the AG or GG genotype had decreased dose-adjusted trough concentrations of tacrolimus at 24 months post transplant and increased dose requirements at 6 months post-transplant (p<0.05).","sentence":"Genotypes AG + GG is not associated with metabolism of tacrolimus in people with Kidney Transplantation as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4500334","article_title":"Pharmacogenetics of plasma efavirenz exposure in HIV-infected adults and children in South Africa","article_path":"articles/PMC4500334.md","variant_annotation_id":1446905210,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"efavirenz","pmid":25611810,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"When considered as part of a composite (rs3745274 T, rs28399499 C, and rs4803419 T), the C allele was strongly associated with plasma efavirenz concentrations (plasma [EFV]) [beta=0.28, 95% CI (0.21, 0.35) p=2.4 E-11]. In a final multivariable model the C allele was associated with a 46% increased in plasma [EFV] (beta=0.27). Post-hoc sensitivity analysis, in which two extreme outliers were excluded from analysis (N=111), showed that the C allele was associated with a 48% increase in plasma [EFV]. Multi-level mixed effects models predicted plasma [EFV] as a function of 1) fixed age effect, time after dose, CYP2B6 composite genotype T,C,T and 2) random effects of the individual to account for w/in individual correlations, genotype CT was associated with a 2.1 fold increase in plasma [EFV].","sentence":"Allele C is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4867099","article_title":"Pharmacogenetics of unboosted atazanavir in HIV-infected individuals in resource-limited settings: a sub-study of the AIDS Clinical Trials Group (ACTG) PEARLS study (NWCS 342)","article_path":"articles/PMC4867099.md","variant_annotation_id":1447947662,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"atazanavir","pmid":26892777,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Looked at CL/F, concentration at 24 hours, and ratios of metabolites M1 and M2 to atazanavir. No CC genotypes identified.","sentence":"Genotype CT (assigned as deficiency phenotype) is not associated with concentrations of atazanavir in people with HIV Infections as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4055378","article_title":"Prediction of Methotrexate Clinical Response in Portuguese Rheumatoid Arthritis Patients: Implication of MTHFR rs1801133 and ATIC rs4673993 Polymorphisms","article_path":"articles/PMC4055378.md","variant_annotation_id":1451258120,"variant_haplotypes":"rs4673993","gene":"ATIC","drugs":"methotrexate","pmid":24967362,"phenotype_category":"Efficacy","significance":"yes","notes":"\"ATIC 675T carriers were associated with over 4-fold increased risk for nonresponse. \"","sentence":"Genotype CC is associated with increased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6132901","article_title":"NUDT15 codon 139 is the best pharmacogenetic marker for predicting thiopurine-induced severe adverse events in Japanese patients with inflammatory bowel disease: a multicenter study","article_path":"articles/PMC6132901.md","variant_annotation_id":1449575844,"variant_haplotypes":"rs116855232","gene":"NUDT15","drugs":"azathioprine, mercaptopurine","pmid":29923122,"phenotype_category":"Dosage","significance":"yes","notes":"The doses of thiopurines at the time when severe leukopenia was diagnosed were 39.4 \u00b1 3.1 mg/day in TT which was significantly lower than 69.1 \u00b1 28.1 mg/day in CC (8.50E-06) and 54.6 \u00b1 19.1 mg/day in CT (p = 2.46E-02 ),","sentence":"Genotype TT is associated with decreased dose of azathioprine or mercaptopurine in people with Inflammatory Bowel Diseases as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Inflammatory Bowel Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4368615","article_title":"The CYP19 RS4646 Polymorphism IS Related to the Prognosis of Stage I\u2013II and Operable Stage III Breast Cancer","article_path":"articles/PMC4368615.md","variant_annotation_id":1444702623,"variant_haplotypes":"rs4646","gene":"CYP19A1","drugs":"anastrozole, letrozole, tamoxifen","pmid":25793413,"phenotype_category":"Efficacy","significance":"yes","notes":"Median follow up time was 96 months and the association was with disease free survival (DFS). Overall there was no difference in DFS by genotype, however when women were split into the pre-menopausal and post-menopausal group, an association was seen between the AA genotype and DFS, but in opposite directions. The AA genotype was associated with shorter DFS in the post-menopausal women and longer DFS in the pre-menopausal women when compared to the AC and CC genotypes (87 months in pre-menopausal AA women, and 48.7 months in pre-menopausal AC+CC women). Chemotherapy included Cyclophosphamide, Doxorubicin/epirubicin and Fluoracil or Doxorubicin, Cyclophosphamide with/without docetaxel, Cyclophosphamide, Epirubicin or Doxorubicin, Cyclophosphamide followed by Docetaxel or weekly Paclitaxel, CAF (Cyclophosphamide, Doxorubicin/Epirubicin and Fluoracil) followed by Docetaxel or weekly Paclitaxel treatment and others, 10 (2.5%) remained unknown.","sentence":"Genotype AA is associated with increased response to anastrozole, letrozole or tamoxifen in women with Breast Neoplasms as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121689,"variant_haplotypes":"rs737865","gene":"COMT","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test, subjective effects of oxycodone. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to oxycodone as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6714673","article_title":"Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients","article_path":"articles/PMC6714673.md","variant_annotation_id":1449250615,"variant_haplotypes":"rs11676382","gene":"GGCX","drugs":"warfarin","pmid":28049362,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of warfarin as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677374,"variant_haplotypes":"rs4775936","gene":"CYP19A1","drugs":"triglycerides","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole and lipid lowering agents (LLA), such as statins. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with decreases in triglycerides of 33.2 mg/dL (SE 8.9).","sentence":"Allele C is associated with decreased concentrations of triglycerides in women with Breast Neoplasms and Menopause as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC7039325","article_title":"A functional polymorphism in the ABCB1 transporter predicts pharmacologic response to combination of nortriptyline and morphine in neuropathic pain patients","article_path":"articles/PMC7039325.md","variant_annotation_id":1451133757,"variant_haplotypes":"CYP2C19 poor metabolizer","gene":"CYP2C19","drugs":"morphine, nortriptyline","pmid":31738228,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in improvement in pain scores between metabolizer groups.","sentence":"CYP2C19 poor metabolizer is not associated with response to morphine and nortriptyline in people with Pain as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5392306","article_title":"Pharmacogenetics of dipeptidyl peptidase 4 inhibitors in a Taiwanese population with type 2 diabetes","article_path":"articles/PMC5392306.md","variant_annotation_id":1452876660,"variant_haplotypes":"rs57803087","gene":"PRKD1","drugs":"linagliptin, saxagliptin, sitagliptin, vildagliptin","pmid":28160554,"phenotype_category":"Efficacy","significance":"yes","notes":"\"After the GWAS (stage I) and replication (stage II) results were combined, rs57803087, located within PRKD1, remained significantly associated with the DPP-4 inhibitor response (Table 4).\" Effect allele is not specified in paper.","sentence":"Allele G is associated with increased response to linagliptin, saxagliptin, sitagliptin or vildagliptin in people with Diabetes Mellitus, Type 2 as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4525256","article_title":"Leveraging an Electronic Health Record-Linked Biorepository to Generate a Metformin Pharmacogenomics Hypothesis","article_path":"articles/PMC4525256.md","variant_annotation_id":1446903452,"variant_haplotypes":"rs12752688","gene":null,"drugs":"metformin","pmid":26306225,"phenotype_category":"Efficacy","significance":"no","notes":"EHR-linked and EHR-based phenotyping methods were used to study common variants within FMO5. Efficacy was assessed by A1c levels extracted from EHR records.","sentence":"Allele T is not associated with response to metformin in people with Diabetes Mellitus as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4846779","article_title":"Dose Optimization of Efavirenz Based on Individual CYP2B6 Polymorphisms in Chinese Patients Positive for HIV","article_path":"articles/PMC4846779.md","variant_annotation_id":1448104256,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":27299708,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Values of oral clearance were 10.2 L/h, 7.33 L/h and 2.38 L/h for GG, GT, and TT patients, respectively.","sentence":"Genotype GG is associated with increased clearance of efavirenz in people with HIV Infections as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2515139","article_title":"A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose","article_path":"articles/PMC2515139.md","variant_annotation_id":637880256,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":18535201,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4298011","article_title":"Adrenergic receptor genotype influences heart failure severity and \u03b2-blocker response in children with dilated cardiomyopathy","article_path":"articles/PMC4298011.md","variant_annotation_id":1451544780,"variant_haplotypes":"rs61767072","gene":"ADRA2C","drugs":"Beta Blocking Agents","pmid":25406899,"phenotype_category":"Efficacy","significance":"yes","notes":"Study looked at effect of 'high-risk' genotypes (i.e. genotypes of one or more of rs61767072 del, rs1801253 C or rs1042713 A alleles) on response to beta-blockers. Patients with more 'high-risk' alleles showed a greater response to beta-blockers than those with fewer 'high-risk' alleles. Note that this variant is incorrectly referred to as rs6846820 in the paper and has been mapped to the correct rsID by PharmGKB.","sentence":"Allele del is associated with increased response to Beta Blocking Agents in children with Cardiomyopathy, Dilated as compared to allele GGGGCGGGGCCG.","alleles":"del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Cardiomyopathy, Dilated","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GGGGCGGGGCCG","comparison_metabolizer_types":null} +{"pmcid":"PMC5727754","article_title":"Effect of AGTR1 and BDKRB2 gene polymorphisms on atorvastatin metabolism in a Mexican population","article_path":"articles/PMC5727754.md","variant_annotation_id":1449169556,"variant_haplotypes":"rs699","gene":"AGT","drugs":"atorvastatin","pmid":29250329,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with AUC, Cmax, clearance, elimination rate constant, or half-life of atorvastatin. However, the AG genotype was associated with higher AUC ad well as lower clearance of atorvastatin vs. AA or GG genotypes.","sentence":"Genotype AG is not associated with exposure to atorvastatin in healthy individuals as compared to genotypes AA + GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3899768","article_title":"SLC28A3 genotype and gemcitabine rate of infusion affect dFdCTP metabolite disposition in patients with solid tumours","article_path":"articles/PMC3899768.md","variant_annotation_id":1184174892,"variant_haplotypes":"rs11853372","gene":"SLC28A1","drugs":"gemcitabine","pmid":24300978,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Gemcitabine, dFdCTP, and dFdU plasma concentrations were measured before (5, 15, 30, 45 min) and after gemcitabine infusion (1, 1.25, 1.5, 2, 6, 24, 48, 72 hrs). Population pharmacokinetic analysis of gemcitabine and metabolites (dFdU, dFdCTP) were performed by non-linear mixed effects modeling. rs11853372 is not associated with metabolism of gemcitabine.","sentence":"Genotype TT is not associated with metabolism of gemcitabine as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC6472479","article_title":"Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and Phe508del and a Residual Function Mutation","article_path":"articles/PMC6472479.md","variant_annotation_id":1449154699,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor, tezacaftor","pmid":29099333,"phenotype_category":"Efficacy","significance":"yes","notes":"This trial was designed to evaluate the efficacy and safety of tezacaftor with ivacaftor, ivacaftor monotherapy, or placebo. It is a phase 3, randomized, multicenter, double-blind, placebo-controlled, two-period, three-intervention crossover trial (NCT02392234). Patients were 12 years of age or older with cystic fibrosis (CF) and were heterozygous for the Phe508del CFTR mutation and a second allele with a CFTR mutation with residual function as assessed by in vitro studies. Each patient received two of the three regimens (tezacaftor with ivacaftor, ivacaftor monotherapy, or placebo).","sentence":"Genotype CTT/del is associated with increased response to ivacaftor and tezacaftor in people with Cystic Fibrosis.","alleles":"CTT/del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4274707","article_title":"IFNL4 ss469415590 Variant Is Associated with Treatment Response in Japanese HCV Genotype 1 Infected Individuals Treated with IFN-Including Regimens","article_path":"articles/PMC4274707.md","variant_annotation_id":1444843675,"variant_haplotypes":"rs11322783","gene":"IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":25548683,"phenotype_category":"Efficacy","significance":"yes","notes":"in Japanese hepatitis C genotype 1 patients.","sentence":"Genotype TT/TT is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b, ribavirin and telaprevir in people with Hepatitis C as compared to genotypes G/TT + GG.","alleles":"TT/TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G/TT + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3656883","article_title":"Novel Associations of VKORC1 Variants with Higher Acenocoumarol Requirements","article_path":"articles/PMC3656883.md","variant_annotation_id":1185002375,"variant_haplotypes":"rs104894542","gene":"VKORC1","drugs":"acenocoumarol","pmid":23691226,"phenotype_category":"Dosage","significance":"not stated","notes":"This variant is found in 1 patient of the group (all with higher doses than expected).","sentence":"Genotypes AC + CC is associated with increased dose of acenocoumarol as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5051541","article_title":"Using EHR-Linked Biobank Data to Study Metformin Pharmacogenomics","article_path":"articles/PMC5051541.md","variant_annotation_id":1452726100,"variant_haplotypes":"rs11749180","gene":"PRKAA1","drugs":"metformin","pmid":25991289,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. \"For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome.\" Table 2 shows rs11749180 as top SNP for PRKAA1","sentence":"Allele A is associated with decreased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4833149","article_title":"The pharmacokinetic and pharmacodynamic interaction of clopidogrel and cilostazol in relation to CYP2C19 and CYP3A5 genotypes","article_path":"articles/PMC4833149.md","variant_annotation_id":1446906210,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"cilostazol","pmid":26426352,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"either when cilostazole is administered alone or in combination with clopidogrel. The authors significant differences in AUC (ng*hr/ml) values of cilostazole metabolites when comparing between CYP3A5 genotype groups. The differences in concentrations of cilostazole metabolite AUC between the CYP3A5 *1/*3 and CYP3A5 *3/*3 was significant when clopidogrel was administered alone or in combiation with cilostazole. Differences in the AUC (ng*hr/ml) of 4\" trans hydroxy cilostazole were only significant for within genotype group comparisons between treatment (CYP3A5 *1/*3 cilostrazole only (684.33) versus cilostrazole and clopidogrel (513.85); p=0.004); CYP3A5 *3/*3 cilostrazole only (576.38) versus cilostrazole and clopidogrel (526.17); p=0.023)","sentence":"CYP3A5 *1/*3 (assigned as intermediate metabolizer phenotype) is associated with decreased concentrations of cilostazol in healthy individuals as compared to CYP3A5 *3/*3 (assigned as poor metabolizer phenotype) .","alleles":"*1/*3","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":"poor metabolizer"} +{"pmcid":"PMC2726911","article_title":"Effect of casopitant, a novel NK-1 antagonist, on the pharmacokinetics of dolasetron and granisetron","article_path":"articles/PMC2726911.md","variant_annotation_id":1447275651,"variant_haplotypes":"CYP2D6 poor metabolizers","gene":"CYP2D6","drugs":"casopitant, dolasetron","pmid":19205754,"phenotype_category":"Metabolism/PK","significance":"no","notes":"While CYP2D6 PMs had slightly higher AUCs than CYP2D6 EMs when dolasetron was administered alone, there was no clinically relevant difference when casopitant was co-administered.; \"The current study showed that coadministration of dolasetron with a 3-day regimen of casopitant resulted in no clinically relevant change in the exposure of hydrodolasetron. The largest observed changes were a 14% increase in hydrodolasetron AUC on day 1 and 18% and 22% increases in hydrodolasetron Cmax on days 1 and 3, respectively. These changes are not considered clinically relevant, were not associated with any increase in adverse events, and were within the same range of within-subject variability for dolasetron exposure.\"; Metabolizer status defined as: \"CYP2D6 PMs (*3, *4, *5, *6, or *7 homozygotes) or CYP2D6 EMs (absence or heterozygotes for *3, *4, *5, *6, or *7 alleles and devoid of CYP2D6 gene duplication) by genotypic analysis.\"","sentence":"CYP2D6 poor metabolizer is not associated with increased exposure to casopitant and dolasetron in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":"and","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5807179","article_title":"Genome-wide association study of a nicotine metabolism biomarker in African American smokers: impact of chromosome 19 genetic influences","article_path":"articles/PMC5807179.md","variant_annotation_id":1448996508,"variant_haplotypes":"rs111645190","gene":null,"drugs":"nicotine","pmid":28921760,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Nicotine metabolism was assessed by measuring participants' nicotine metabolite ratio.","sentence":"Allele A is not associated with metabolism of nicotine as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5563830","article_title":"Association of ABCB1 Gene Polymorphisms with Efficacy and Adverse Reaction to Risperidone or Paliperidone in Han Chinese Schizophrenic Patients","article_path":"articles/PMC5563830.md","variant_annotation_id":1448604016,"variant_haplotypes":"rs2235048","gene":"ABCB1","drugs":"risperidone","pmid":27456824,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles given as reverse strand C and T. Efficacy measured with reduction in PANSS total score reduced rate.","sentence":"Genotypes AG + GG are associated with increased response to risperidone in people with Schizophrenia as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679401,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"omeprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the *1/*1 genotype had a significantly lower eradication rate of Helicobacter pylori (H. pylori), as compared to those with the *1/*2 or *1/*3 genotype. This was a meta-analysis and included 6 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received the antibiotics amoxicillin and clarithromycin as part of triple therapy.levofloxacin.","sentence":"CYP2C19 *1/*1 is associated with decreased response to omeprazole in people with Helicobacter Infections as compared to CYP2C19 *1/*2 + *1/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC3959225","article_title":"Pharmacogenomics of insulin-like growth factor-I generation during GH treatment in children with GH deficiency or Turner syndrome","article_path":"articles/PMC3959225.md","variant_annotation_id":1449164471,"variant_haplotypes":"rs2270777","gene":"CDK4","drugs":"somatropin recombinant","pmid":23567489,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to growth hormone treatment assessed by 1-month insulin-like growth factor-I (IGF-I) generation. Multiple test correction was done for 1171 SNPs. Corrected p values was given.","sentence":"Genotype TT is associated with increased response to somatropin recombinant in children with growth hormone deficiency as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Growth hormone deficiency","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930642,"variant_haplotypes":"rs692780","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"The G allele was initially associated with an increased likelihood of being a smoker but this lost significance following correction for multiple testing.","sentence":"Allele C is not associated with exposure to nicotine in men as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756016,"variant_haplotypes":"rs7305534","gene":"AQP2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC9481373","article_title":"Tacrolimus Concentration Is Effectively Predicted Using Combined Clinical and Genetic Factors in the Perioperative Period of Kidney Transplantation and Associated with Acute Rejection","article_path":"articles/PMC9481373.md","variant_annotation_id":1451893780,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"tacrolimus","pmid":36118414,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"alleles complemented to plus chromosomal strand.","sentence":"Genotypes AG + GG is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811823,"variant_haplotypes":"rs642489","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. No significant association between this variant and any individual item or total score on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele T is not associated with response to ethanol as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11269678","article_title":"HLA-DQA1*05 correlates with increased risk of anti-drug antibody development and reduced response to infliximab in Chinese patients with Crohn\u2019s disease","article_path":"articles/PMC11269678.md","variant_annotation_id":1452542845,"variant_haplotypes":"rs2097432","gene":null,"drugs":"infliximab","pmid":39055374,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Furthermore, HLA-DQA1*05 G carriage was significantly associated with an elevated risk of loss response to IFX treatment (adjusted HR\u2009=\u20092.55, 95% CI 1.78\u20133.68, P\u2009<\u20090.001; Figure 3B and Supplementary Table 2).\" Authors describe locus as HLADQ A1*05A>G (rs2097432). Alleles complemented","sentence":"Genotypes CC + CT is associated with decreased response to infliximab in people with Crohn Disease as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Crohn Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6054772","article_title":"Efficacy and Safety Profile of Z-215 (Azeloprazole Sodium), a Proton Pump Inhibitor, Compared with Rabeprazole Sodium in Patients with Reflux Esophagitis: A Phase II, Multicenter, Randomized, Double-Blind, Comparative Study","article_path":"articles/PMC6054772.md","variant_annotation_id":1451343500,"variant_haplotypes":"CYP2C19*1","gene":"CYP2C19","drugs":"rabeprazole","pmid":30038671,"phenotype_category":"Efficacy","significance":"no","notes":"as compared to patients with the *1/*2 or *1/*3 genotype, or those with the *2/*2, *2/*3 or *3/*3 genotype. To assess the effects of CYP2C19 genotype, the endoscopic healing rate was assessed by the investigator at Week 8 according to CYP2C19 genotype (homozygous EM and heterozygous EM and PM). The endoscopic healing rate was not dependent on CYP2C19 genotype in any group (10 mg Z-215: 125 patients, 20 mg Z-215: 126 patients, 40 mg Z-215: 126 patients, and 10 mg rabeprazole: 126 patients). Please note that the authors did not specify whether every one of these genotypes was present in the population, only that they genotyped for them.","sentence":"CYP2C19 *1/*1 is not associated with response to rabeprazole in people with Gastroesophageal Reflux as compared to CYP2C19 *1/*1.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Gastroesophageal Reflux","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6092108","article_title":"SLCO1B1 genetic variation and hormone therapy in menopausal women","article_path":"articles/PMC6092108.md","variant_annotation_id":1449311435,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"conjugated estrogens","pmid":29738412,"phenotype_category":"Efficacy","significance":"yes","notes":"Women with the CT genotype had a significantly increased reduction in night sweats following hormonal therapy than women with the TT genotype.","sentence":"Genotype CT is associated with increased response to conjugated estrogens in women with Menopause as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Menopause","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3248259","article_title":"Pharmacokinetics and pharmacodynamics following maintenance doses of prasugrel and clopidogrel in Chinese carriers of CYP2C19 variants","article_path":"articles/PMC3248259.md","variant_annotation_id":1450664694,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"clopidogrel","pmid":21689142,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"PMs and IMs had lower con-centrations of active metabolite than did *1/*1 and PMs had lower concentrations than did IMs. CYP2C19 *2/*3 is associated with increased area under the plasma concentration-time curve and Cmax as compared to CYP2C19 *1/*1.; Note: P values were NOT provided in the study. Authors chose to report of confidence interval cut-off of 90%, (not classical cut-off of 95%). Confidence interval of 90% does not cross 1 so that suggesting significance.","sentence":"CYP2C19 *2/*2 + *2/*3 is associated with decreased metabolism of clopidogrel in healthy individuals as compared to CYP2C19 *1/*1.","alleles":"*2/*2 + *2/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479730,"variant_haplotypes":"rs2069526","gene":"CYP1A2","drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3513646","article_title":"Lower Calcineurin Inhibitor Doses in Older Compared to Younger Kidney Transplant Recipients Yield Similar Troughs","article_path":"articles/PMC3513646.md","variant_annotation_id":1450376200,"variant_haplotypes":"CYP3A5*1","gene":"CYP3A5","drugs":"tacrolimus","pmid":22947444,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"During first 6 months post-transplant.","sentence":"CYP3A5 *1 is associated with decreased trough concentration of tacrolimus in people with Kidney Transplantation.","alleles":"*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002388,"variant_haplotypes":"rs2291078","gene":"UMPS","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"no","notes":"pfSNP identified 2800 SNPS associated with key-words: 5-FU, capecitabine and oxilaplatin and colorectal cancer. Various criteria were used to determine 1536 SNPs to genotype. These SNPs were genotyped in a discovery cohort (N=62) and tested in a validation cohort (N=27). Both cohorts consisted of patients with colorectal cancer metastasis in liver. 36 SNPs were initially significantly associated with drug response but only 3 remained significant in the validation cohort (before Bonferroni correction): rs2291078 A, rs3772809 G, rs3772810 G. All three SNPs were in perfect LD, and were initially associated with the non-responder phenotype, but the association did not remain significant after Bonferroni correction.","sentence":"Allele A is associated with decreased response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4631184","article_title":"In vivo assessment of the metabolic activity of CYP2D6 diplotypes and alleles","article_path":"articles/PMC4631184.md","variant_annotation_id":1444711216,"variant_haplotypes":"CYP2D6 poor metabolizers","gene":"CYP2D6","drugs":"endoxifen","pmid":25907378,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The patients of the cohort (83% White, 15% Black) were genotype with AmpliChip CYP450 test. The variations used to define the star alleles are not reported. The diplotypes of the patients are not reported. The alleles found in the cohort are not explicit reported but graphic 3 shows *1, *2, *35, *9, *10, *17, *29, and *41. The study included UMs and PM but no CYP2D6 star allele is reported for those phenotypes. *1, *2, *35 are grouped as active alleles and any combination of these defines the extensive metabolizer. *9, *10, *17, *29, and *41 are grouped as reduced function alleles. The article subgroups the IMs into EM/IM, EM/PM, IM/IM, IM/PM.","sentence":"CYP2D6 poor metabolizer is associated with decreased concentrations of endoxifen in women Breast Neoplasms as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4943245","article_title":"Individualized Angiotensin\u2010Converting Enzyme (ACE)\u2010Inhibitor Therapy in Stable Coronary Artery Disease Based on Clinical and Pharmacogenetic Determinants: The PERindopril GENEtic (PERGENE) Risk Model","article_path":"articles/PMC4943245.md","variant_annotation_id":1447964483,"variant_haplotypes":"rs12050217","gene":"BDKRB1","drugs":"perindopril","pmid":27021566,"phenotype_category":"Efficacy","significance":"yes","notes":"Three SNPS are combined for a risk score ranging between 0 and 6: rs275651, rs5182, and rs12050217. Patients with risk scores of 0 and 1 and treated with perindopril had absolute risk reductions of 7.50% (95% CI: 3.69-11.73) and 4.30% (95% CI: 2.00-6.53), respectively. Nonsignificant estimated absolute risk increase of 1.32% was observed in patients with a PGXscore >=3. Lower risk score had better response to treatment by primary endpoint of cardiovascular mortality, nonfatal MI, and resuscitated cardiac arrest. Part of PERGENE trial for cardiovascular outcomes.","sentence":"Genotypes AA + AG is associated with decreased response to perindopril in people with Coronary Artery Disease as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4208722","article_title":"GRIK4 polymorphism and its association with antidepressant response in depressed patients: a meta-analysis","article_path":"articles/PMC4208722.md","variant_annotation_id":1184998246,"variant_haplotypes":"rs1954787","gene":"GRIK4","drugs":"antidepressants","pmid":25303296,"phenotype_category":"Efficacy","significance":"yes","notes":"Meta-analysis combining 5 studies.","sentence":"Allele C is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4181635","article_title":"Clinical significance of UGT1A1 gene polymorphisms on irinotecan-based regimens as the treatment in metastatic colorectal cancer","article_path":"articles/PMC4181635.md","variant_annotation_id":1451214031,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"FOLFIRI, irinotecan","pmid":25285015,"phenotype_category":"Efficacy","significance":"no","notes":"Response rates were complete and partial response (CR + PR), or complete and partial response and stable disease (CR + PR + SD). No significant differences between any of the genotypes ((TA)6/(TA)6, (TA)6/(TA)7, (TA)7/(TA)7) were seen for either type of response rate.","sentence":"UGT1A1 *28 is not associated with increased response to FOLFIRI or irinotecan in people with Colorectal Neoplasms as compared to UGT1A1 *1.","alleles":"*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC11730665","article_title":"Comparative efficacy and safety of sitagliptin or gliclazide combined with metformin in treatment-naive patients with type 2 diabetes: A single-center, prospective, randomized, controlled, noninferiority study with genetic polymorphism analysis","article_path":"articles/PMC11730665.md","variant_annotation_id":1453075960,"variant_haplotypes":"rs163184","gene":"KCNQ1","drugs":"sitagliptin","pmid":39792745,"phenotype_category":"Efficacy","significance":"yes","notes":"\"KCNQ1 gene polymorphisms also significantly affected treatment outcomes. Patients with the rs163184 GG allele in the study group had a median HbA1c improvement of 0.81 (IQR, 0.62\u20130.92) compared with 1.16 (IQR, 0.91\u20131.32) in the control group (P\u2005<\u2005.001), suggesting lower responsiveness to sitagliptin and better response to gliclazide.\"","sentence":"Genotype GG is associated with decreased response to sitagliptin in people with Diabetes Mellitus, Type 2.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183631253,"variant_haplotypes":"rs16960228","gene":"PRKCA","drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"yes","notes":"Observations: 4.46 mm Hg increased reduction of diastolic blood pressure per A allele in PEAR + GERA, 3.26 mm Hg increased reduction of diastolic blood pressure per A allele in NORDIL, and 4.16 mm Hg increased reduction of diastolic blood pressure per A allele in PEAR + GERA + NORDIL.The association did not reach genome-wide significance when only PEAR + GERA were analyzed, but this SNP was selected for replication in NORDIL and here the association reached significance. It did not reach genome-wide significance in the meta-analysis of PEAR + GERA + NORDIL. It was then tested for replication in the GENRES and Milan cohorts, reaching significance in GENRES but not in the Milan cohort.","sentence":"Allele A is associated with increased response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4959996","article_title":"ABCC3 Genetic Variants are Associated with Postoperative Morphine-induced Respiratory Depression and Morphine Pharmacokinetics in Children","article_path":"articles/PMC4959996.md","variant_annotation_id":1450342061,"variant_haplotypes":"rs4793665","gene":"ABCC3","drugs":"morphine-3-glucuronide, morphine-6-glucuronide","pmid":26810133,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype CC is associated with increased concentrations of morphine-3-glucuronide and morphine-6-glucuronide in children with Scoliosis or tonsillectomy as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Scoliosis, Disease:tonsillectomy","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2757655","article_title":"Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European American and African Americans","article_path":"articles/PMC2757655.md","variant_annotation_id":1447519652,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*5, CYP2C9*6, CYP2C9*11","gene":"CYP2C9","drugs":"warfarin","pmid":18466099,"phenotype_category":"Dosage","significance":"yes","notes":"in European Americans.","sentence":"CYP2C9 *2 + *3 + *5 + *6 + *11 are associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*2 + *3 + *5 + *6 + *11","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4764723","article_title":"The Impacts of SLC22A1 rs594709 and SLC47A1 rs2289669 Polymorphisms on Metformin Therapeutic Efficacy in Chinese Type 2 Diabetes Patients","article_path":"articles/PMC4764723.md","variant_annotation_id":1447980961,"variant_haplotypes":"rs2289669","gene":"SLC47A1","drugs":"metformin","pmid":26977146,"phenotype_category":"Efficacy","significance":"yes","notes":"Looked at changes in the following as measures of metformin response between AA/GA (n=50) and GG genotype (n=3): fasting blood glucose (p=0.112), postprandial blood glucose (p=0.171), fasting insulting (p=0.015), postprandial insulin (p=0.259), glycosylated hemoglobin (p=0.227), triglycerides (p=p=0.434), total cholesterol (p=0.224), low-density lipoprotein (p=0.451), high-density lipoprotein (p=0.399), homeostasis model assessment of insulin resistance (p=0.081), homeostasis model assessment of insulin sensitivity (p=0.001), homeostasis model assessment of B cell function (p=0.493), and quantitative insulin sensitivity check index (p=0.002). Also, found an interaction between this SNP and SLC47A1 rs2289669, with patients with rs594709 AA genotypes and rs2289669 AA genotypes showing higher decrease in FBG (p=0.015), PINS (p=0.041), and HOMA-IR (p-0.014) than patients with rs2289669 GA or GG genotypes. Patients with rs594709 G allele carriers and also rs2289669 AA genotype showed greater decrease in TChol (p=0.013) than GA or GG genotypes.","sentence":"Genotype GG is associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5346037","article_title":"Genome-Wide Analysis of Clopidogrel Active Metabolite Levels Identifies Novel Variants that Influence Antiplatelet Response","article_path":"articles/PMC5346037.md","variant_annotation_id":1448602481,"variant_haplotypes":"rs9732195","gene":null,"drugs":"clopidogrel thiol metabolite H4","pmid":28207573,"phenotype_category":"Metabolism/PK","significance":"no","notes":"In this GWAS, locus on chromosome 10 near the CYP2C9-CYP2C18-CYP2C19 gene cluster was significantly associated with active metabolite concentration; (rs137891020, P =9.5 \u00d7 10\u201315,according to dbSNP: rs137891020 has merged into rs9732195). This variant is non-significant after adjusting for CYP2C19*2 SNV.","sentence":"Allele T is associated with concentrations of clopidogrel thiol metabolite H4 in healthy individuals as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4615595","article_title":"Association of Common C-Reactive Protein (CRP) Gene Polymorphisms With Baseline Plasma CRP Levels and Fenofibrate Response","article_path":"articles/PMC4615595.md","variant_annotation_id":982044478,"variant_haplotypes":"rs3093059","gene":"CRP","drugs":"fenofibrate","pmid":18285551,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change of C-reactive protein (CRP) levels between baseline and 3 weeks of treatment, was seen between genotypes. In strong linkage disequilibrium with rs3091244 (r2 = 0.935, p < 0.001) and in weak linkage disequilibrium with rs1417938 and rs1205 (r2 = 0.17, p < 0.05).","sentence":"Genotype AA is not associated with response to fenofibrate in people with Metabolic Syndrome as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metabolic Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3698861","article_title":"Association of nicotine metabolite ratio and CYP2A6 genotype with smoking cessation treatment in African-American light smokers","article_path":"articles/PMC3698861.md","variant_annotation_id":1451665280,"variant_haplotypes":"CYP2A6*1, CYP2A6*46","gene":"CYP2A6","drugs":"nicotine","pmid":19279561,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note that the *46 allele is described as the *1B1 allele in the paper and has subsequently been reassigned by PharmVar.","sentence":"CYP2A6 *1/*46 + *46/*46 are associated with increased metabolism of nicotine as compared to CYP2A6 *1/*1.","alleles":"*1/*46 + *46/*46","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359274,"variant_haplotypes":"rs1611114","gene":"DBH","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of heroin in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375534,"variant_haplotypes":"rs45499402","gene":"ABCG2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment. This SNP is in perfect LD with rs2231142.","sentence":"Allele C is associated with decreased response to allopurinol.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679483,"variant_haplotypes":"CYP2C19*1","gene":"CYP2C19","drugs":"esomeprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"no","notes":"as compared to the *1/*2 or *1/*3 genotype, or the *2/*2, *2/*3 or *3/*3 genotype. No significant differences in eradication rate of Helicobacter pylori (H. pylori) were seen between any of the genotype groups.This was a meta-analysis and included 4 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received the antibiotics amoxicillin and clarithromycin or amoxicillin and levofloxacin as part of triple therapy.","sentence":"CYP2C19 *1/*1 is not associated with response to esomeprazole in people with Helicobacter Infections.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5509475","article_title":"ABCB1 Genotype is Associated with Fentanyl Requirements in Critically Ill Children","article_path":"articles/PMC5509475.md","variant_annotation_id":1450826590,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"fentanyl","pmid":28388599,"phenotype_category":"Dosage","significance":"no","notes":"No significant difference in fentanyl infusion dose between genotype groups.","sentence":"Allele G is not associated with dose of fentanyl in children as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5883590","article_title":"Effect of CYP3 A4, CYP3 A5 and ABCB1 gene polymorphisms on the clinical efficacy of tacrolimus in the treatment of nephrotic syndrome","article_path":"articles/PMC5883590.md","variant_annotation_id":1449748460,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"tacrolimus","pmid":29615122,"phenotype_category":"Efficacy","significance":"no","notes":"This variant did not affect the clinical efficacy of tacrolimus. Effective response included patients with complete or partial remission, and ineffective response included patients with no remission or recurrence. The publication reports the finding for CYP3A4*1G. PharmVar re-assigned CYP3A4*1G to CYP3A4*36. Previously, this annotation used CYP3A4*36 which has been retired by PharmVar. All references to *36 have been replaced by rs2242480 alleles.","sentence":"Allele T is not associated with response to tacrolimus in people with Nephrotic Syndrome as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Nephrotic Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5425333","article_title":"Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta\u2010Analysis","article_path":"articles/PMC5425333.md","variant_annotation_id":1448631778,"variant_haplotypes":"rs12943590","gene":"SLC47A2","drugs":"metformin","pmid":27859023,"phenotype_category":"Efficacy","significance":"no","notes":"This variant is not associated with metformin glycemic response assessed as HbA1c reduction in patients on metformin monotherapy.","sentence":"Allele A is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5604731","article_title":"Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients","article_path":"articles/PMC5604731.md","variant_annotation_id":827863316,"variant_haplotypes":"rs17602729","gene":"AMPD1","drugs":"methotrexate","pmid":22450926,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11652804","article_title":"Sex\u2010Dependent Effects of CYP2D6 on the Pharmacokinetics of Berberine in Humans","article_path":"articles/PMC11652804.md","variant_annotation_id":1452699060,"variant_haplotypes":"SLC22A1 deficiency","gene":"SLC22A1","drugs":"berberine","pmid":39488825,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"No significant differences were observed in berberine plasma con-centrations or AUC 0\u201348h between poor OCT1 transporters, poorCYP2D6 metabolizers, and the reference group (Figure 4a,b,Table 1).\" \"Poor OCT1 transporters were defined as homozygous or compound het-erozygous carriers of OCT1 alleles *3, *4, *5, or *6. \" \"OCT1 alleles *1 (reference allele), *2 (Met420del),*3 (Arg61Cys), *4 (Gly401Ser), *5 (Gly465Arg, Met420del), *6 (Cys88Arg, Met420del)\"","sentence":"SLC22A1 deficiency is not associated with decreased concentrations of berberine in healthy individuals as compared to SLC22A1 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113819,"variant_haplotypes":"rs524731","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele A is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4613195","article_title":"Impact of Single Nucleotide Polymorphisms (SNPs) on Immunosuppressive Therapy in Lung Transplantation","article_path":"articles/PMC4613195.md","variant_annotation_id":1448099963,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"tacrolimus","pmid":26307985,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles given as the reverse strand C and T. Concentrations measured as trough blood drug concentrations. Differences in concentrations between CT and CC patients were seen 6 months after transplant.","sentence":"Genotypes AA + AG are associated with increased concentrations of tacrolimus in people with lung transplantation as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5411458","article_title":"CYP2D6 Phenotyping Using Urine, Plasma, and Saliva Metabolic Ratios to Assess the Impact of CYP2D6\u221710 on Interindividual Variation in a Chinese Population","article_path":"articles/PMC5411458.md","variant_annotation_id":1448617711,"variant_haplotypes":"CYP2D6*1, CYP2D6*5, CYP2D6*10","gene":"CYP2D6","drugs":"dextromethorphan","pmid":28512430,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Single dose study with 15mg dextromethorphan DM. Urine, Plasma, and Saliva Metabolic Ratios were accessed. Subjects were genotyped by DNA sequencing analysis for CYP2D6*1, *2, *3, *4, *6, *7, *10, *14, *18, *21, *28, *33, *34, *35, *36, *39, *41, *43, *49, *51, *52, *54, *60, *63, *65, *69, *71, and *75 and CNV were determined. NM n= 190; *5/*10 n=35. The urinary, plasma, or salivary MRs increased successively in subjects with CYP*1/*1, *1/*10, *10/*10, and *5/*10 with statistical significance (all P-values < 0.001).","sentence":"CYP2D6 *5/*10 is associated with decreased metabolism of dextromethorphan in healthy individuals as compared to CYP2D6 *1/*1 + *1/*10 + *10/*10.","alleles":"*5/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*10 + *10/*10","comparison_metabolizer_types":null} +{"pmcid":"PMC4667947","article_title":"Methadone pharmacogenetics: CYP2B6 polymorphisms determine plasma concentrations, clearance and metabolism","article_path":"articles/PMC4667947.md","variant_annotation_id":1447944325,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"methadone","pmid":26389554,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"PK measures were AUC, clearance, peak concentration, exposure.","sentence":"CYP2B6 *1/*6 + *6/*6 is associated with decreased clearance of methadone in healthy individuals as compared to CYP2B6 *1/*1.","alleles":"*1/*6 + *6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2773991","article_title":"Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770","article_path":"articles/PMC2773991.md","variant_annotation_id":981755699,"variant_haplotypes":"rs75527207","gene":"CFTR","drugs":"ivacaftor","pmid":19846789,"phenotype_category":"Efficacy","significance":"yes","notes":"In vitro assays that show ivacaftor potentiates CFTR with the G551D mutation (rs75527207 allele A) - see details described in study parameters.","sentence":"Allele A is associated with increased response to ivacaftor.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4965653","article_title":"Genetic Variations in Attention Deficit Hyperactivity Disorder Subtypes and Treatment Resistant Cases","article_path":"articles/PMC4965653.md","variant_annotation_id":1450376730,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"methylphenidate","pmid":27482244,"phenotype_category":"Efficacy","significance":"not stated","notes":"Using multiple logistic regression analysis to examine the relationship between various clinical parameters and treatment response showed that ADRA2A GG genotype (OR=5.6), the presence of a psychiatric comorbidity (OR=5.6) and low SES (OR=2.3) were associated with reduced response to methylphenidate treatment.","sentence":"Genotype GG is associated with decreased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171089,"variant_haplotypes":"rs2279344","gene":"CYP2B6","drugs":"S-EDDP","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with concentrations of (S)-EDDP as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5135610","article_title":"Genetic polymorphisms in the long noncoding RNA MIR2052HG offer a pharmacogenomic basis for the response of breast cancer patients to aromatase inhibitor therapy","article_path":"articles/PMC5135610.md","variant_annotation_id":1449002508,"variant_haplotypes":"rs3802201","gene":null,"drugs":"anastrozole, exemestane","pmid":27758888,"phenotype_category":"Efficacy","significance":"no","notes":"Patients included postmenopausal women with resected stage I\u2013III breast cancer that was ERa and/or PgR positive and randomized to five years of anastrozole or exemestane. Did not reach statistical significance for GWAS (P<5 x 10^-8).","sentence":"Allele C is not associated with increased response to anastrozole and exemestane in women with Breast Neoplasms as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3330749","article_title":"Genetic and environmental factors determining clinical outcomes and cost of warfarin therapy: a prospective study","article_path":"articles/PMC3330749.md","variant_annotation_id":1447519944,"variant_haplotypes":"rs2359612","gene":"VKORC1","drugs":"warfarin","pmid":19752777,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4169706","article_title":"Genome-wide association analysis of anti-TNF drug response in rheumatoid arthritis patients","article_path":"articles/PMC4169706.md","variant_annotation_id":981483823,"variant_haplotypes":"rs1813443","gene":"CNTN5","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":23233654,"phenotype_category":"Efficacy","significance":"no","notes":"This is one of three SNPs that showed directional consistency of association in 4 cohorts studied, along with improved p value in a 3 stage meta-analysis compared to the first GWAS stage. Since this is a CG SNP, the associated allele may be incorrect; it was reported as C and the SNP is in +-strand gene. p did not reach genome-wide significance.","sentence":"Allele C is associated with response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5558541","article_title":"Rooted in risk: genetic predisposition for low-density lipoprotein cholesterol level associates with diminished low-density lipoprotein cholesterol response to statin treatment","article_path":"articles/PMC5558541.md","variant_annotation_id":1448263716,"variant_haplotypes":"rs2072183","gene":"NPC1L1","drugs":"hmg coa reductase inhibitors","pmid":27648687,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by lesser reductions in LDL-C. These individuals were also more likely to start out with higher LDL-C before treatment. NPC1L1 is on the minus strand therefore alleles were complemented and shown here on plus chromosomal strand. Paper shows C as effect allele and also minor allele in European-ancestry individuals.","sentence":"Allele G is associated with decreased response to hmg coa reductase inhibitors in people with Cardiovascular Diseases and Hypercholesterolemia as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease, Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11524821","article_title":"Evaluation of the role of metabolizing enzymes and transporter variants in ezetimibe pharmacokinetics","article_path":"articles/PMC11524821.md","variant_annotation_id":1452829247,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"ezetimibe","pmid":39484171,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles complemented. \"A tendency towards higher Cmax/DW in ABCB1 rs2032582 G/G; + A/A+ G/A subjects compared to ABCB1 T/T (p univariate (puv) =; 0.056, p multivariate (pmv) = 0.049, \u03b2 = 0.243, R2 = 0.067) (Table 4)\" This is a trialleleic and difficult to represent in the structured sentence. Table 4 shows allele frequencies for \"TT n=17, T/G + T/A 28, G/G + A/A+ G/A 50\"","sentence":"Genotype AA is associated with decreased dose-adjusted trough concentrations of ezetimibe in healthy individuals as compared to genotypes CC + TT.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340000,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, CYP2C9*3 allele is associated with 12.5mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"CYP2C9 *1/*3 is associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511048,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of CYP3A4*1B TT, AC and CC did not influence donepezil clearance in a covariate model. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491185,"variant_haplotypes":"rs4580760","gene":"SV2C","drugs":"olanzapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype CC is not associated with response to olanzapine in people with Schizophrenia as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC5469860","article_title":"Association of Polymorphisms in Pharmacogenetic Candidate Genes with Propofol Susceptibility","article_path":"articles/PMC5469860.md","variant_annotation_id":1448639517,"variant_haplotypes":"rs6746030","gene":"SCN9A","drugs":"propofol","pmid":28611364,"phenotype_category":"Other","significance":"yes","notes":"The AA and AG genotypes were associated with lower BIS values, indicating increased susceptibility to propofol compared to the GG genotypes (51.13\u00b115.37 vs. 61.30\u00b110.39). Please note: the authors examined 58 SNPs but did not do multiple testing corrections.","sentence":"Genotypes AA + AG are associated with increased response to propofol as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC8108700","article_title":"The OPRD1 rs678849 variant influences outcome of disulfiram treatment for cocaine dependency in methadone-maintained patients","article_path":"articles/PMC8108700.md","variant_annotation_id":1451635420,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"disulfiram","pmid":33953123,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CC genotype had a significantly reduced number of cocaine-positive urine samples when treated with disulfiram.","sentence":"Genotype CC is associated with increased response to disulfiram in people with Cocaine-Related Disorders as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cocaine dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6855320","article_title":"CYP2C19 and STAT6 Variants Influence the Outcome of Proton Pump Inhibitor Therapy in Pediatric Eosinophilic Esophagitis","article_path":"articles/PMC6855320.md","variant_annotation_id":1451273860,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"esomeprazole","pmid":31490856,"phenotype_category":"Efficacy","significance":"no","notes":"carriage of CYP2C19\udbff\udc0017 GOF was not associated with either PPI-REE or complete PPI-REE outcomes in the non-pH cohort (PPI-REE OR [95% CI] = 1.38 [0.34,5.61], P = 0.65; complete PPI-REE OR =1.54 (0.37-6.46) p=0.56","sentence":"CYP2C19 *17 is not associated with response to esomeprazole in children with eosinophilic esophagitis as compared to CYP2C19 *1/*1.","alleles":"*17","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:eosinophilic esophagitis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5727754","article_title":"Effect of AGTR1 and BDKRB2 gene polymorphisms on atorvastatin metabolism in a Mexican population","article_path":"articles/PMC5727754.md","variant_annotation_id":1449169568,"variant_haplotypes":"rs5186","gene":"AGTR1","drugs":"atorvastatin","pmid":29250329,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"AUC (0-time t) and AUC (0-infinity) values were significantly higher in the AC genotype (186.44\u00b192.45 and 204.55\u00b194.76 ng/ml/h, respectively) vs the CC genotype (95.57\u00b143.10 and 109.28\u00b140.84 ng/ml/h) (P<0.05 each) as well as when compared to AA + CC genotypes combined (159.28\u00b179.71 ng/ml/h) (P<0.05). Clearance was significantly lower in the AC genotype (473.67\u00b1220.44 l/h) vs CC (810.19\u00b1275.81 l/h) or vs. AA+CC (614.68\u00b1277.11 l/h); (P<0.05). Genotype was not associated with half-life, Cmax, or elimination rate constant of atorvastatin.","sentence":"Genotype AC is associated with increased exposure to atorvastatin in healthy individuals as compared to genotypes AA + CC.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3506814","article_title":"Pharmacogenetic Influence of LOC387715/HTRA1 on the Efficacy of Bevacizumab Treatment for Age-Related Macular Degeneration in a Korean Population","article_path":"articles/PMC3506814.md","variant_annotation_id":1183699670,"variant_haplotypes":"rs10490924","gene":"ARMS2","drugs":"bevacizumab","pmid":23204795,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the GT and TT genotype had greater improvements in visual acuity (using a Snellen eye exam chart then converted to a logarithm of the minimal angle of resolution value) between baseline and 6 months of treatment, as compared to those with the GG genotype. Patients with the TT genotype had the greatest visual acuity improvement, followed by the GT and then the GG genotype. No significant differences were seen when considering improvement over 12 months of treatment.","sentence":"Genotypes GT + TT are associated with increased response to bevacizumab in people with Macular Degeneration as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930657,"variant_haplotypes":"rs16969968","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"The A allele was initially associated with an increased likelihood of being a smoker but this lost significance following correction for multiple testing.","sentence":"Allele A is not associated with exposure to nicotine in men as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6493375","article_title":"ABCC2 Polymorphisms and Haplotype are Associated with Drug Resistance in Chinese Epileptic Patients","article_path":"articles/PMC6493375.md","variant_annotation_id":827921768,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"antiepileptics","pmid":22630058,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with increased resistance to antiepileptics in people with Epilepsy as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7993015","article_title":"Genetic Variant in CHRNA5 and Response to Varenicline and Combination Nicotine Replacement in a randomized placebo-controlled trial","article_path":"articles/PMC7993015.md","variant_annotation_id":1451347680,"variant_haplotypes":"rs16969968","gene":"CHRNA5","drugs":"nicotine","pmid":32602170,"phenotype_category":"Efficacy","significance":"yes","notes":"compared to placebo. In African American smokers, combination nicotine replacement therapy (patch and lozenge) was more effective in smokers with rs16969968 GG genotype than was placebo. There was no significant genotype-by-treatment interaction in smokers of European ancestry.","sentence":"Genotype GG is associated with increased response to nicotine in people with Tobacco Use Disorder.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271273,"variant_haplotypes":"rs6311","gene":"HTR2A","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"no","notes":"Response defined by changes in the rate of dropout from treatment between genotypes. Subsequent pairwise analysis resulted in a nominally significant association for the TT genotype compared to the CT genotype in the methadone group and the total cohort, but not in the buprenorphine group.","sentence":"Genotype TT is not associated with response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557975,"variant_haplotypes":"rs699517","gene":"TYMS","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677307,"variant_haplotypes":"rs10046","gene":"CYP19A1","drugs":"triglycerides","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole alone or with lipid lowering agents (LLA), such as statins. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with decreases in triglycerides of 36.4 mg/dL (SE 7.8).","sentence":"Allele A is associated with decreased concentrations of triglycerides in women with Breast Neoplasms and Menopause as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3273458","article_title":"Deciphering the Interleukin 28B Variants That Better Predict Response to Pegylated Interferon-\u03b1 and Ribavirin Therapy in HCV/HIV-1 Coinfected Patients","article_path":"articles/PMC3273458.md","variant_annotation_id":1444705057,"variant_haplotypes":"rs4803217","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":22328925,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C and HIV Infections as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection, Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC3858547","article_title":"High imatinib dose overcomes insufficient response associated with ABCG2 haplotype in chronic myelogenous leukemia patients","article_path":"articles/PMC3858547.md","variant_annotation_id":1184513472,"variant_haplotypes":"rs2725252","gene":"ABCG2","drugs":"imatinib","pmid":24123600,"phenotype_category":"Efficacy","significance":"yes","notes":"As part of a haplotype with rs12505410: those with the G-C haplotype (rs12505410-rs2725252) had a significantly higher cumulative incidence major molecular response (CI-MMR) as compared to those with any other haplotype (i.e. G-A, T-C, T-A). This study was done in an exploratory cohort (n=105) and a validation cohort (n=239); within the validation cohort, patients were either taking a 400mg/day dose of imatinib (n=132) or a 600mg/day dose (n=107). Results were NOT significant for those taking a 600mg/day dose. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is associated with increased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4931969","article_title":"Childhood asthma exacerbations and the Arg-16 beta2 receptor polymorphism: a meta-analysis stratified by treatment","article_path":"articles/PMC4931969.md","variant_annotation_id":1447680618,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"corticosteroids, selective beta-2-adrenoreceptor agonists","pmid":26774659,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased response to corticosteroids and selective beta-2-adrenoreceptor agonists in children with Asthma as compared to genotype GG.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10747255","article_title":"CYP3A5*3 and CYP3A4*22 Cluster Polymorphism Effects on LCP-Tac Tacrolimus Exposure: Population Pharmacokinetic Approach","article_path":"articles/PMC10747255.md","variant_annotation_id":1452348200,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":38140040,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\" CYP3A4*22 carriers vs. CYP3A4*22 non-carriers C0 normalized by dose showed significant differences when compared (p < 0.01).\"","sentence":"CYP3A4 *1/*22 is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1/*1.","alleles":"*1/*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2048549","article_title":"Atomoxetine pharmacokinetics in healthy Chinese subjects and effect of the CYP2D6*10 allele","article_path":"articles/PMC2048549.md","variant_annotation_id":1447813900,"variant_haplotypes":"CYP2D6*1, CYP2D6*10","gene":"CYP2D6","drugs":"atomoxetine","pmid":17610534,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Mean clearance was about 50% lower in *10/*10 compared to *1/*10 and *1/*1. Genotyped using AmpliChip for *2, *3, *4, *5, *6, *7, *8, *9,*10, *11, *14A, *14B, *15, *17, *19, *20, *25, *26, *29, *30, *31, *35, *36, *40 and *41. If subjects had two nonfunctional alleles in any combination of *3, *4, *5, *6, *7, *8, *11, *14A, *15, *19, *20 and *40 alleles, a PM genotype was assigned; otherwise, an EM genotype was assigned. Eight subjects identified as homozygous CYP2D6*10, 13 subjects as heterozygous CYP2D6*10 and three as homozygous CYP2D6*1. Each subject received atomoxetine, 40 mg once daily (qd) or placebo for 3 days (days 1, 2 and 3), followed by atomoxetine or placebo, 80 mg qd for 7 days (days 4\u201310).","sentence":"CYP2D6 *10/*10 is associated with decreased clearance of atomoxetine in healthy individuals as compared to CYP2D6 *1/*1 + *1/*10.","alleles":"*10/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*10","comparison_metabolizer_types":null} +{"pmcid":"PMC3988537","article_title":"Influence of RGS2 on Sertraline Treatment for Social Anxiety Disorder","article_path":"articles/PMC3988537.md","variant_annotation_id":1452043346,"variant_haplotypes":"rs3742278","gene":"HTR2A","drugs":"sertraline","pmid":24154666,"phenotype_category":"Efficacy","significance":"no","notes":"rs3742278 was not associated with significant differences in change in LSAS score in patients receiving sertraline.","sentence":"Allele G is not associated with response to sertraline in people with Anxiety Disorders as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Anxiety Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3734608","article_title":"Efficacy and Safety of Ivacaftor in Patients Aged 6 to 11 Years with Cystic Fibrosis with a G551D Mutation","article_path":"articles/PMC3734608.md","variant_annotation_id":982009991,"variant_haplotypes":"rs75527207","gene":"CFTR","drugs":"ivacaftor","pmid":23590265,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients aged 6-11 at time of screening who had at least one allele with the G551D mutation (allele A at position rs75527207) were recruited for this trial. Ivacaftor is only indicated in CF patients with this mutation. Significant improvements in lung function were seen in the ivacaftor treatment group compared to placebo.","sentence":"Allele A is associated with response to ivacaftor in children with Cystic Fibrosis.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6071997","article_title":"Germline single nucleotide polymorphisms in ERBB3 and BARD1 genes result in a worse relapse free survival response for HER2-positive breast cancer patients treated with adjuvant based docetaxel, carboplatin and trastuzumab (TCH)","article_path":"articles/PMC6071997.md","variant_annotation_id":1449713641,"variant_haplotypes":"rs2229571","gene":"BARD1","drugs":"carboplatin, docetaxel, trastuzumab","pmid":30071039,"phenotype_category":"Efficacy","significance":"no","notes":"When compared to women who received different treatment regimens. Response was defined as likelihood of achieving relapse-free survival. As the paper gives the G allele as the reference allele for this SNP, it is assumed that the alleles are presented as being on the positive strand.","sentence":"Allele C is not associated with decreased response to carboplatin, docetaxel and trastuzumab in women with Breast Neoplasms.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3603284","article_title":"Discordant Associations between SLCO1B1 521T\u2192C and Plasma Levels of Ritonavir-boosted Protease Inhibitors in AIDS Clinical Trials Group Study A5146","article_path":"articles/PMC3603284.md","variant_annotation_id":1451115963,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"lopinavir","pmid":23503447,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and trough concentrations of lopinavir in black or Hispanic patients. Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with trough concentration of lopinavir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2556451","article_title":"ARG1 Is a Novel Bronchodilator Response Gene: Screening and Replication in Four Asthma Cohorts","article_path":"articles/PMC2556451.md","variant_annotation_id":769146107,"variant_haplotypes":"rs2781659","gene":"ARG1","drugs":"selective beta-2-adrenoreceptor agonists","pmid":18617639,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with increased response to selective beta-2-adrenoreceptor agonists in people with Asthma as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6714673","article_title":"Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients","article_path":"articles/PMC6714673.md","variant_annotation_id":1449192273,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":28049362,"phenotype_category":"Dosage, Other","significance":"yes","notes":"Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2760462","article_title":"Atazanavir pharmacokinetics in genetically determined CYP3A5 expressors versus non-expressors","article_path":"articles/PMC2760462.md","variant_annotation_id":1450985140,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"ritonavir","pmid":19710077,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"For the haplotype \"1236C/2677G/3435C\" \"overall ritonavir CL/F was \u223c1.9-fold faster in subjects with zero versus two CGC haplotype\"\"and was 1.47-fold faster in subjects with zero versus one CGC copy\". In this two-phase study, healthy participants were given atazanavir only for 7 days and then were co-administered ritonavir as a booster for days 8-14. The results here are for day 8-14 (atazanavir plus ritonavir).","sentence":"Genotype AA is associated with increased clearance of ritonavir in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4788379","article_title":"PTPRD gene associated with blood pressure response to atenolol and resistant hypertension","article_path":"articles/PMC4788379.md","variant_annotation_id":1446902864,"variant_haplotypes":"rs10739150","gene":null,"drugs":"atenolol","pmid":26425837,"phenotype_category":"Efficacy","significance":"yes","notes":"in black patients. Black participants with rs10739150 GG, TG, and TT genotypes had a BP response of -8.7/-7.2,-4.6/-4.8, and 1.4/-1.5 mmHg, respectively, after atenolol monotherapy.","sentence":"Genotypes GG + GT are associated with increased response to atenolol in people with Hypertension as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6927671","article_title":"Common polymorphisms of CYP2B6 influence stereoselective bupropion disposition","article_path":"articles/PMC6927671.md","variant_annotation_id":1449564044,"variant_haplotypes":"rs1057868","gene":"POR","drugs":"bupropion","pmid":29756345,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"There's no difference in plasma hydroxybupropion/bupropion AUC ratios, or urine R,R- or S,S hydroxybupropion formation clearances in carriers of POR*28 (A503V 1508C>T (rs1057868)) as compared to *1/*1.","sentence":"Genotypes CT + TT are not associated with metabolism of bupropion in healthy individuals as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3478502","article_title":"Combinational effect of intestinal and hepatic CYP3A5 genotypes on tacrolimus pharmacokinetics in recipients of living donor liver transplantation","article_path":"articles/PMC3478502.md","variant_annotation_id":1184514690,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":22992768,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"After 4 months post-transplantation, C/D ratios of donor CYP3A5 expresser were lower than those of nonexpresser regardless of recipients' genotype. Given the same donor genotype, C/D ratios of recipient CYP3A5 expresser were lower than those of nonexpresser. C/D is the ratio of blood concentration/dose.","sentence":"Genotypes CT + TT are associated with increased dose of tacrolimus in people with liver transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3895354","article_title":"Population pharmacokinetic and pharmacogenetic analysis of tacrolimus in paediatric liver transplant patients","article_path":"articles/PMC3895354.md","variant_annotation_id":1184998546,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":23738951,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Population pharmacokinetic modeling showed time post transplantation and CYP3A5*1 as influential covariates on tacrolimus apparent clearance. Apparent clearance of tacrolimus increased 1.53 times in an individual with the *1/*1 or *1/*3 genotype as compared to those with the *3/*3 genotype.","sentence":"Genotypes CT + TT is associated with increased clearance of tacrolimus in children with liver transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC2762391","article_title":"Germline genomic variations associated with childhood acute lymphoblastic leukemia","article_path":"articles/PMC2762391.md","variant_annotation_id":981478035,"variant_haplotypes":"rs10994982","gene":"ARID5B","drugs":"methotrexate","pmid":19684603,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"A was associated with greater methotrexate polyglutamate accumulation in lymphoblasts from patients with B-hyperdiploid ALL.","sentence":"Allele A is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4469933","article_title":"Association between opioid receptor mu 1 (OPRM1) gene polymorphisms and tobacco and alcohol consumption in a Spanish population","article_path":"articles/PMC4469933.md","variant_annotation_id":1450822114,"variant_haplotypes":"rs510769","gene":"OPRM1","drugs":"ethanol","pmid":26042510,"phenotype_category":"Dosage","significance":"no","notes":"No significant association between this variant and alcohol consumption.","sentence":"Allele T is not associated with dose of ethanol as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC8359222","article_title":"Avoiding Tacrolimus Underexposure and Overexposure with a Dosing Algorithm for Renal Transplant Recipients: A Single Arm Prospective Intervention Trial","article_path":"articles/PMC8359222.md","variant_annotation_id":1451642920,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":33452682,"phenotype_category":"Dosage","significance":"not stated","notes":"see Rx annotation for algorithm.","sentence":"CYP3A4 *22 is associated with decreased dose of tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1.","alleles":"*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4345081","article_title":"Polymorphisms of GLP-1 Receptor Gene and Response to GLP-1 Analogue in Patients with Poorly Controlled Type 2 Diabetes","article_path":"articles/PMC4345081.md","variant_annotation_id":1452878280,"variant_haplotypes":"rs761386","gene":"GLP1R","drugs":"exenatide","pmid":25785276,"phenotype_category":"PD","significance":"no","notes":"\"The effects of GLP1R genotypes on glucose, insulin, and C-peptide concentrations during the 75\u2009g OGTT after GLP-1 analogue treatment are shown in Figure 3.\" Figure 3 shows CC with increasing insulin while CT/TT has lower increases. \"Quantitative trait loci analysis of GLP1R gene variation with clinical response of GLP1 analogue showed the missense rs3765467 and rs761386 significantly associated with changes in the standard deviation of plasma glucose (SDPG(baseline) - SDPG(treatment with GLP-1 analogue)) (P = 0.041 and 0.019, resp.). The reported P values became insignificant after multiple testing adjustments.\"","sentence":"Genotypes CT + TT is associated with increased response to exenatide in people with Diabetes Mellitus, Type 2 as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930694,"variant_haplotypes":"rs3827020","gene":"CHRNA4","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele C is not associated with exposure to nicotine in men as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3114195","article_title":"IL28B genetic variations are associated with high sustained virological response (SVR) of interferon-\u03b1 plus ribavirin therapy in Taiwanese chronic HCV infection","article_path":"articles/PMC3114195.md","variant_annotation_id":1444705477,"variant_haplotypes":"rs4803219","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":21346780,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype has decreased association with sustained virological response (SVR).","sentence":"Genotype CT is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356721,"variant_haplotypes":"rs1800587","gene":"IL1A","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4892230","article_title":"CYP2B6*6 and CYP2B6*18 Predict Long-Term Efavirenz Exposure Measured in Hair Samples in HIV-Positive South African Women","article_path":"articles/PMC4892230.md","variant_annotation_id":1449157006,"variant_haplotypes":"CYP2B6*1, CYP2B6*2","gene":"CYP2B6","drugs":"efavirenz","pmid":26655325,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2B6 *2 is not associated with concentrations of efavirenz in people with HIV as compared to CYP2B6 *1/*1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4628029","article_title":"CYP3A5 and ABCB1 genotype influence tacrolimus and sirolimus pharmacokinetics in renal transplant recipients","article_path":"articles/PMC4628029.md","variant_annotation_id":1447520826,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"sirolimus, tacrolimus","pmid":26543771,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased dose of sirolimus or tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340130,"variant_haplotypes":"rs12777823","gene":null,"drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, this variant is associated with 12.7mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"Genotypes AA + AG are associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3530397","article_title":"GENOMIC ASSOCIATION ANALYSIS IDENTIFIES MULTIPLE LOCI INFLUENCING ANTIHYPERTENSIVE RESPONSE TO AN ANGIOTENSIN II RECEPTOR BLOCKER","article_path":"articles/PMC3530397.md","variant_annotation_id":827921925,"variant_haplotypes":"rs3758785","gene":"GPR83","drugs":"candesartan","pmid":22566498,"phenotype_category":"Efficacy","significance":"yes","notes":"Heterozygotes had intermediate response and pattern was the same for both SBP and DBP.","sentence":"Genotype GG is associated with increased response to candesartan in people with Essential hypertension as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1448522397,"variant_haplotypes":"rs11615","gene":"ERCC1","drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate, overall survival or time to progression in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928121,"variant_haplotypes":"rs362267","gene":"HTT","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"The T allele was initially significantly more frequent in patients designated as non-responders to risperidone (i.e. <50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.","sentence":"Allele T is associated with decreased response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4190075","article_title":"ABCC3 and OCT1 genotypes influence pharmacokinetics of morphine in children","article_path":"articles/PMC4190075.md","variant_annotation_id":1184998684,"variant_haplotypes":"rs4793665","gene":"ABCC3","drugs":"morphine","pmid":25155932,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Children with the CC genotype had higher levels of morphine-3-glucuronide and morphine-6-glucuronide metabolite formation compared to the CT and TT genotype.","sentence":"Genotype CC is associated with increased metabolism of morphine in children as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC1874262","article_title":"CYP2C9 polymorphism and warfarin dose requirements","article_path":"articles/PMC1874262.md","variant_annotation_id":982038144,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"warfarin","pmid":11966680,"phenotype_category":"Dosage","significance":"not stated","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981794086,"variant_haplotypes":"rs4742","gene":"DCTD","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Tumor response to therapy, progression free survival, and risk of neutropenia development did not significantly differ between genotype groups. This study presented this SNP as rs7663494, but dbSNP has merged that rsID with rs4742.","sentence":"Genotype GG is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449002998,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"no","notes":"However, the presence of the G (5.92 days) allele was associated with a prolonged duration of hospitalization as compared to the A allele (5.51 days) (P = 0.006). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele G is not associated with response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5610780","article_title":"Correlation between Rs2108622 Locus of CYP4F2 Gene Single Nucleotide Polymorphism and Warfarin Dosage in Iranian Cardiovascular Patients","article_path":"articles/PMC5610780.md","variant_annotation_id":1449192000,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":29201113,"phenotype_category":"Dosage","significance":"yes","notes":"Patients were divided into two groups: those who required more than 5 mg/day of warfarin (Group B) and those who required less than 5 mg/day of warfarin (Group A). Within Group B, the frequency of the T allele was 44% vs. 30% in Group A.","sentence":"Allele T is associated with increased dose of warfarin in people with Cardiovascular Diseases as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4236071","article_title":"Adiponectin Gene Polymorphism rs2241766 T/G Is Associated with Response to Pioglitazone Treatment in Type 2 Diabetic Patients from Southern China","article_path":"articles/PMC4236071.md","variant_annotation_id":1444666874,"variant_haplotypes":"rs1501299","gene":"ADIPOQ","drugs":"pioglitazone","pmid":25405601,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as \"any decrease greater than (or equal to) 15%\" of glycated hemoglobin (HbA1C%).","sentence":"Genotypes GT + TT are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotype TT.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002444,"variant_haplotypes":"rs2289310","gene":"DLG5","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"not stated","notes":"pfSNP identified 2800 SNPS associated with key-words: 5-FU, capecitabine and oxilaplatin and colorectal cancer. Various criteria were used to determine 1536 SNPs to genotype. These SNPs were genotyped in a discovery cohort (N=62) and tested in a validation cohort (N=27). Both cohorts consisted of patients with colorectal cancer metastasis in liver. Five SNPs (rs2289310 G>T; rs1047840 G>A; rs17431184 T>C; rs17160359 G>T; rs2236722 A>G) were identified to be more common in the \"non-responder\" phenotype using a logistic regression multivariate model. The AUC for the receiver operating characteristic curve of the 5 SNPs is 0.875. This logistic-based multivariate model is said to be able to identify 39.1% of non-responders.","sentence":"Allele T is associated with increased response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11481807","article_title":"Serotonin transporter 5-HTTLPR polymorphism and escitalopram treatment response in patients with major depressive disorder","article_path":"articles/PMC11481807.md","variant_annotation_id":1452647505,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"escitalopram","pmid":39407134,"phenotype_category":"Efficacy","significance":"no","notes":"\"No significant differences were observed in the distribution of predicted CYP2C19 and CYP2D6 metabolizer phenotypes between responder and non-responder groups.\"","sentence":"CYP2D6 poor metabolizer is not associated with decreased response to escitalopram in people with Major Depressive Disorder as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995786,"variant_haplotypes":"rs13269021","gene":"ANGPT2","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6089815","article_title":"Interaction between ABCG2 421C>A polymorphism and valproate in their effects on steady\u2010state disposition of lamotrigine in adults with epilepsy","article_path":"articles/PMC6089815.md","variant_annotation_id":1449560381,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"lamotrigine","pmid":29791014,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with concentrations of lamotrigine in people with Epilepsy as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5432414","article_title":"ABC Transporter Polymorphisms are Associated with Irinotecan Pharmacokinetics and Neutropenia","article_path":"articles/PMC5432414.md","variant_annotation_id":1448432559,"variant_haplotypes":"rs35621","gene":"ABCC1","drugs":"SN-38","pmid":27845419,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"AUC of SN-38 was adjusted for irinotecan dose.","sentence":"Genotypes CT + TT are associated with increased exposure to SN-38 in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC11102100","article_title":"Evaluation of CYP2C19 Genetic Variant and Its Lack of Association with Valproic Acid Plasma Concentrations Among Zhuang and Han Schizophrenia Patients in Guangxi","article_path":"articles/PMC11102100.md","variant_annotation_id":1452488240,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"valproic acid","pmid":38765788,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"The standardized VPA blood concentrations for the NM, IM, and PM metabolic phenotypes exhibited a gradual increase without statistical significance. Furthermore, while differences in blood concentrations among different age groups were not statistically significant, females had significantly higher blood concentrations than males, with statistical significance. Table 6.\"","sentence":"CYP2C19 *2/*2 + *2/*3 (assigned as poor metabolizer phenotype) is associated with increased concentrations of valproic acid in people with Schizophrenia as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*2/*2 + *2/*3","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550271,"variant_haplotypes":"rs362626","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele C is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3944214","article_title":"Characterization of Statin Dose-response within Electronic Medical Records","article_path":"articles/PMC3944214.md","variant_annotation_id":1451355120,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"simvastatin","pmid":24096969,"phenotype_category":"Efficacy","significance":"yes","notes":"This variant is associated with simvastatin potency (ED50) from dose-response curves in EMRs.","sentence":"Genotypes CC + CT are associated with decreased response to simvastatin.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2492917","article_title":"Lack of tacrolimus circadian pharmacokinetics and CYP3A5 pharmacogenetics in the early and maintenance stages in Japanese renal transplant recipients","article_path":"articles/PMC2492917.md","variant_annotation_id":1183959847,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"tacrolimus","pmid":18429967,"phenotype_category":"Toxicity, Metabolism/PK","significance":"no","notes":"+ AA. No significant differences in dose-adjusted area under the concentration-time curve from 0-12 hours (AUC0-12/D), dose-adjusted trough level (C0/D), dose-adjusted maximum plasma concentration (Cmax/D), body weight-adjusted clearance or AUC0-12 were seen between any of the CC, CT, AC, AT or AA genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CT is not associated with metabolism of tacrolimus in people with Kidney Transplantation as compared to genotypes AC + AT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + AT","comparison_metabolizer_types":null} +{"pmcid":"PMC3675749","article_title":"Influences of Organic Cation Transporter Polymorphisms on the Population Pharmacokinetics of Metformin in Healthy Subjects","article_path":"articles/PMC3675749.md","variant_annotation_id":1183682344,"variant_haplotypes":"rs12943590","gene":"SLC47A2","drugs":"metformin","pmid":23417334,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in area under the serum concentration-time curve from zero to infinity (AUCinf) or peak concentration (Cmax) of metformin was seen between the two genotype groups.","sentence":"Genotype GG is not associated with increased clearance of metformin in healthy individuals as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4224698","article_title":"FTO rs9939609 polymorphism is associated with metabolic disturbances and response to HCV therapy in HIV/HCV-coinfected patients","article_path":"articles/PMC4224698.md","variant_annotation_id":1444668581,"variant_haplotypes":"rs9939609","gene":"FTO","drugs":"\"interferon alfa-2a, recombinant\", \"interferon alfa-2b, recombinant\", \"ribavirin\"","pmid":25367448,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AA + AT is associated with decreased response to interferon alfa-2a, recombinant, interferon alfa-2b, recombinant and ribavirin in people with Hepatitis C, Chronic and HIV Infections as compared to genotype TT.","alleles":"AA + AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection, Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3061841","article_title":"The Relation Between CYP2C19 Genotype and Phenotype in Stented Patients on Maintenance Dual Antiplatelet Therapy","article_path":"articles/PMC3061841.md","variant_annotation_id":769245444,"variant_haplotypes":"rs12248560","gene":"CYP2C19","drugs":"aspirin","pmid":21392617,"phenotype_category":"Efficacy","significance":"no","notes":"Aspirin 81-325 mg/d for at least 2 weeks. ADP-induced ex vivo platelet aggregation was measured. *17 SNP. Comparison was between T carriers and non-carriers. [stat_test: chi-square]","sentence":"Allele T is not associated with increased response to aspirin in people with Coronary Artery Disease as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5264271","article_title":"Assessment of Human Tribbles Homolog 3 Genetic Variation (rs2295490) Effects on Type 2 Diabetes Patients with Glucose Control and Blood Pressure Lowering Treatment","article_path":"articles/PMC5264271.md","variant_annotation_id":1448602034,"variant_haplotypes":"rs2295490","gene":"TRIB3","drugs":"indapamide, perindopril","pmid":27793583,"phenotype_category":"Efficacy","significance":"no","notes":"SBP presented no remarkable difference between AA and AG+GG genotype groups. In the group receiving therapy, AA genotype carriers had a mean decrease of DBP of 0.8mmHg. No difference was seen in SBP.","sentence":"Genotype AA is associated with increased response to indapamide and perindopril in people with Diabetes Mellitus, Type 2 as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4488893","article_title":"Drug Metabolizing Enzyme and Transporter Gene Variation, Nicotine Metabolism, Prospective Abstinence, and Cigarette Consumption","article_path":"articles/PMC4488893.md","variant_annotation_id":1447984307,"variant_haplotypes":"rs4803381","gene":"CYP2A6","drugs":"bupropion, Drugs used in nicotine dependence","pmid":26132489,"phenotype_category":"Efficacy","significance":"yes","notes":"The T allele was nominally significantly associated with six month abstinence in one arm of 66 individuals first treated with combined nicotine replacement therapy (NRT) and bupropion from baseline to 12 weeks and then randomized to chronic bupropion (P = 0.023).","sentence":"Allele T is associated with increased response to bupropion and Drugs used in nicotine dependence in people with Tobacco Use Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3779247","article_title":"Influence of Vitamin D-Related Gene Polymorphisms (CYP27B and VDR) on the Response to Interferon/Ribavirin Therapy in Chronic Hepatitis C","article_path":"articles/PMC3779247.md","variant_annotation_id":1444706633,"variant_haplotypes":"rs2228570","gene":"VDR","drugs":"peginterferon alfa-2b, ribavirin","pmid":24073221,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Allele A is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5378677","article_title":"A genetic variant in Rassf1a predicts outcome in mCRC patients treated with cetuximab plus chemotherapy: results from FIRE-3 and JACCRO 05 and 06 trials","article_path":"articles/PMC5378677.md","variant_annotation_id":1449750580,"variant_haplotypes":"rs2073498","gene":"RASSF1","drugs":"cetuximab","pmid":27698403,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in tumor response, progression-free survival or overall survival was seen between the genotype groups. Patients also receiving treatment with fluorouracil, leucovorin and irinotecan (FOLFIRI).","sentence":"Genotypes AA + AC is not associated with response to cetuximab in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4574839","article_title":"Progressive decline in tacrolimus clearance after renal transplantation is partially explained by decreasing CYP3A4 activity and increasing haematocrit","article_path":"articles/PMC4574839.md","variant_annotation_id":1447673635,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":26114223,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the *3/*3 genotype had increased trough concentrations (both dose-corrected and non-dose-corrected), increased area under the concentration-time curve from 0-12 hours (AUC0-12; both dose-corrected and non-dose-corrected), decreased clearance (both weight-adjusted and non-weight-adjusted) and decreased dose as compared to those with the *1/*3 genotype.","sentence":"CYP3A5 *3/*3 is associated with decreased metabolism of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC11314417","article_title":"Allergic bronchopulmonary aspergillosis as an initial manifestation of cystic fibrosis: Diagnostic and therapeutic implications in the era of CFTR modulators","article_path":"articles/PMC11314417.md","variant_annotation_id":1452562212,"variant_haplotypes":"CFTR D1152H, CFTR R347H","gene":"CFTR","drugs":"elexacaftor / tezacaftor / ivacaftor","pmid":39131200,"phenotype_category":"Efficacy","significance":"no","notes":"\"We present the case of a 20-year-old male with ABPA and bronchiectasis that was initially misdiagnosed as a result of normal sweat chloride values and negative first-level genetic testing results. Comprehensive CFTR gene sequencing revealed 2 pathogenic variants, R347H and D1152H, which together with the clinical phenotype and functional tests, supported the diagnosis of CF. Treatment with elexacaftor/tezacaftor/ivacaftor resulted in significant clinical and functional improvement, including a marked decrease in total IgE levels, suggesting a potential role for CFTR modulators in controlling ABPA. \"","sentence":"CFTR R347H + D1152H is associated with increased clinical benefit to elexacaftor / tezacaftor / ivacaftor in people with Cystic Fibrosis and Aspergillosis.","alleles":"R347H + D1152H","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cystic Fibrosis, Other:Aspergillosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC9028965","article_title":"Influence of Receptor Polymorphisms on the Response to \u03b1-Adrenergic Receptor Blockers in Pheochromocytoma Patients","article_path":"articles/PMC9028965.md","variant_annotation_id":1451770120,"variant_haplotypes":"rs553668","gene":"ADRA2A","drugs":"doxazosin, phenoxybenzamine","pmid":35453646,"phenotype_category":"Dosage","significance":"no","notes":"\"The G alleles of rs10515807 in the ADRA1B gene and rs553668 in the ADRA2A gene both caused a three times lower risk of being in a higher dosage step than allele A\" \"However, none of these significances survived the multiple testing correction.\"","sentence":"Allele G is associated with decreased dose of doxazosin or phenoxybenzamine in people with Pheochromocytoma or Paraganglioma as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pheochromocytoma, Other:Paraganglioma","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5546852","article_title":"Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention","article_path":"articles/PMC5546852.md","variant_annotation_id":1448617649,"variant_haplotypes":"rs3212185","gene":"HNF4A","drugs":"metformin","pmid":28453780,"phenotype_category":"Efficacy","significance":"no","notes":"Subjects were at high risk of diabetes and were recruited from Diabetes Prevention Program (DPP) and were followed for a year. The authors measured changes in response to insulin at baseline and one year after treatment. The C allele was not associated with response to Metformin (vs. Placebo) and after multiple testing corrections.","sentence":"Genotype CT is not associated with response to metformin as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5898372","article_title":"Genotypic and Phenotypic Factors Influencing Drug Response in Mexican Patients With Type 2 Diabetes Mellitus","article_path":"articles/PMC5898372.md","variant_annotation_id":1449310660,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"sulfonamides, urea derivatives","pmid":29681852,"phenotype_category":"Efficacy","significance":"no","notes":"This is the defining SNP of CYP2C9*3","sentence":"Allele C is not associated with response to sulfonamides, urea derivatives in people with Diabetes Mellitus as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699018,"variant_haplotypes":"rs7855716","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438420,"variant_haplotypes":"rs12777823","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 4.5E-3.","sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1448522322,"variant_haplotypes":"GSTM1 non-null, GSTM1 null","gene":"GSTM1","drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate, overall survival or time to progression in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01.","sentence":"GSTM1 null/null is not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to GSTM1 non-null/non-null + non-null/null.","alleles":"null/null","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"non-null/non-null + non-null/null","comparison_metabolizer_types":null} +{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715471,"variant_haplotypes":"rs4296738","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Efficacy","significance":"no","notes":"There was no significant difference in PPLpost-PPLpre between the genotype groups.","sentence":"Allele A is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC9297921","article_title":"CYP2C19 Loss\u2010of\u2010function Polymorphisms are Associated with Reduced Risk of Sulfonylurea Treatment Failure in Chinese Patients with Type 2 Diabetes","article_path":"articles/PMC9297921.md","variant_annotation_id":1451905400,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"sulfonamides, urea derivatives","pmid":34656068,"phenotype_category":"Efficacy","significance":"yes","notes":"CYP2C19 poor metabolizers had lower risk of SU treatment failure and were more likely to reach the HbA1c treatment target < 7% than wild-type carriers (CYP2C19 *1/*1).","sentence":"CYP2C19 *2/*2 + *2/*3 + *3/*3 (assigned as poor metabolizer phenotype) are associated with increased response to sulfonamides, urea derivatives in people with Diabetes Mellitus, Type 2 as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC2773991","article_title":"Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770","article_path":"articles/PMC2773991.md","variant_annotation_id":981755710,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor","pmid":19846789,"phenotype_category":"Efficacy","significance":"yes","notes":"In vitro assays that show that ivacaftor potentiates CFTR with the F508del mutation (rs113993960 del) *in cells that have been temperature corrected to enhance expression of F508del CFTR at the plasma membrane* - see details described in study parameters.","sentence":"Allele del is associated with increased response to ivacaftor.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3246196","article_title":"Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition","article_path":"articles/PMC3246196.md","variant_annotation_id":1184747038,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*23, SLCO1B1*37","gene":"SLCO1B1","drugs":"methotrexate","pmid":22147369,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note *1B was mentioned in the article. SLCO1B1*1B was consolidated into SLCO1B1*37 by PharmVar in 2021.","sentence":"SLCO1B1 *23 is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to SLCO1B1 *1 + *37.","alleles":"*23","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *37","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672860,"variant_haplotypes":"rs140471703","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. This is the defining SNP of the CYP2A6*41 allele.","sentence":"Allele T is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7655626","article_title":"Pharmacogenetic Interactions of Rifapentine plus Isoniazid with Efavirenz or Nevirapine","article_path":"articles/PMC7655626.md","variant_annotation_id":1451308144,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"efavirenz","pmid":32815870,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"NAT2 slow acetylators also had greater plasma efavirenz and nevirapine concentration increases from baseline to week 4, and greater decreases from baseline in clearance.","sentence":"NAT2 slow acetylator is associated with increased concentrations of efavirenz in people with HIV Infections.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11862786","article_title":"Population pharmacokinetics of tacrolimus whole blood and peripheral blood mononuclear cell concentrations in stable kidney\u2010transplanted patients","article_path":"articles/PMC11862786.md","variant_annotation_id":1452640280,"variant_haplotypes":"rs3814055","gene":"NR1I2","drugs":"tacrolimus","pmid":39390741,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"Interestingly, patients homozygousfor the NR1I2-25 385T allele had 60.7% higher RC:PBMC than carriersof the C allele (Table 2 and Figure 4D). \" RC:PBMC = ratio of tacrolimus whole blood to PBMCconcentration","sentence":"Genotype TT is associated with increased concentrations of tacrolimus in people with Kidney Transplantation as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC2014382","article_title":"Fluoxetine inhibits the metabolism of tolterodine\u2014pharmacokinetic implications and proposed clinical relevance","article_path":"articles/PMC2014382.md","variant_annotation_id":1183689806,"variant_haplotypes":"CYP2D6*1, CYP2D6*3, CYP2D6*4","gene":"CYP2D6","drugs":"tolterodine","pmid":10583026,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Study genotyped for *3 and *4 and grouped two non-functional alleles as PM. Study did not report exact genotype of patients.","sentence":"CYP2D6 *3 + *4 are associated with decreased metabolism of tolterodine in women as compared to CYP2D6 *1/*1.","alleles":"*3 + *4","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC11317398","article_title":"Genetic variability in the glucocorticoid pathway and treatment outcomes in hospitalized patients with COVID-19: a pilot study","article_path":"articles/PMC11317398.md","variant_annotation_id":1452563140,"variant_haplotypes":"rs6198","gene":"NR3C1","drugs":"dexamethasone","pmid":39135792,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Homozygotes for polymorphic NR3C1 rs6198 allele needed significantly longer hospitalization (median 45 days) compared to heterozygotes (11 days) or non-polymorphic homozygotes (9 days) (p adj = 0.001). \"","sentence":"Genotype CC is associated with increased time to response to dexamethasone in people with COVID-19 as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"time to response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:COVID-19","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2291379","article_title":"Influence of the CYP2D6*4 polymorphism on dose, switching and discontinuation of antidepressants","article_path":"articles/PMC2291379.md","variant_annotation_id":981476423,"variant_haplotypes":"rs3892097","gene":"CYP2D6","drugs":"amitriptyline, clomipramine, doxepin, imipramine, maprotiline, nortriptyline, opipramol","pmid":18070221,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"(*4*4 vs. *1*1; this SNP was the only SNP assayed and this method could not detect *5.) Tricyclic antidepressants were grouped together for this analysis (45.9 % of patients were taking Amitriptyline; 8.2% Maprotiline;6.6% Clomipramine; 2.9% Nortriptyline;2.4% Imipramine;0.7% Dosulepin;0.3% Doxepin;0.2% Opipramol. Mean TCA dose was significantly lower at the 3rd and 4th prescription (difference 0.11 DDD). Genotypes were not in Hardy-Weinberg equilibrium; frequency below is for a larger population that included patients treated with other antidepressants.","sentence":"Genotype TT is associated with decreased dose of amitriptyline, clomipramine, doxepin, imipramine, maprotiline, nortriptyline or opipramol in people with Depression as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356745,"variant_haplotypes":"rs1800871","gene":"IL10","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC10532840","article_title":"TNF\u03b1 rs1800629 Polymorphism and Response to Anti-TNF\u03b1 Treatment in Beh\u00e7et Syndrome: Data from an Italian Cohort Study","article_path":"articles/PMC10532840.md","variant_annotation_id":1452262396,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"adalimumab, certolizumab pegol, golimumab, infliximab","pmid":37763115,"phenotype_category":"Efficacy","significance":"yes","notes":"\"We identified that 50/58 (86.2%) responders showed the GG genotype and 8/58 (13.8%) responder patients showed the GA genotype, while 9/16 (56.25%) non-responder patients showed the GG genotype and 7/16 (43.75%) the GA genotype\"","sentence":"Genotype GG is associated with increased clinical benefit to adalimumab, certolizumab pegol, golimumab or infliximab in people with Behcet Syndrome as compared to genotype AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Behcet Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} +{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934350,"variant_haplotypes":"rs398123217","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the C allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Tyr216Cys.","sentence":"Allele C is associated with increased response to migalastat in people with Fabry Disease.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4345081","article_title":"Polymorphisms of GLP-1 Receptor Gene and Response to GLP-1 Analogue in Patients with Poorly Controlled Type 2 Diabetes","article_path":"articles/PMC4345081.md","variant_annotation_id":1452878220,"variant_haplotypes":"rs3765467","gene":"GLP1R","drugs":"exenatide","pmid":25785276,"phenotype_category":"PD","significance":"no","notes":"Alleles complemented. \"The effects of GLP1R genotypes on glucose, insulin, and C-peptide concentrations during the 75\u2009g OGTT after GLP-1 analogue treatment are shown in Figure 3.\" Figure 3 shows CC with increasing insulin while CT/TT has lower increases. \"Quantitative trait loci analysis of GLP1R gene variation with clinical response of GLP1 analogue showed the missense rs3765467 and rs761386 significantly associated with changes in the standard deviation of plasma glucose (SDPG(baseline) - SDPG(treatment with GLP-1 analogue)) (P = 0.041 and 0.019, resp.). The reported P values became insignificant after multiple testing adjustments.\"","sentence":"Genotypes AA + AG is associated with decreased response to exenatide in people with Diabetes Mellitus, Type 2 as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4025175","article_title":"The influence of CYP3A, PPARA, and POR genetic variants on the pharmacokinetics of tacrolimus and cyclosporine in renal transplant recipients","article_path":"articles/PMC4025175.md","variant_annotation_id":1184470375,"variant_haplotypes":"rs4823613","gene":"PPARA","drugs":"cyclosporine","pmid":24658827,"phenotype_category":"Metabolism/PK","significance":"no","notes":"A single steady-state concentration of cyclosporine was collected for each patient 2-7 wks post-transplant and compared to dose of cyclosporine administered to patients at Oslo University Hospital. Reported concentrations are \"steady-state dose-adjusted concentration\" of cyclosporine. Steady-state is defined as at least 3 days after last dose adjustment for Tac and 4 days for cyclosporine.","sentence":"Allele G is not associated with decreased metabolism of cyclosporine in people with Kidney Transplantation as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC11544447","article_title":"Effect of A118G (rs1799971) single\u2010nucleotide polymorphism of the \u03bc\u2010opioid receptor OPRM1 gene on intraoperative remifentanil requirements in Japanese women undergoing laparoscopic gynecological surgery","article_path":"articles/PMC11544447.md","variant_annotation_id":1452554060,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"remifentanil","pmid":39093709,"phenotype_category":"Dosage","significance":"yes","notes":"\"The average remifentanil infusion rate tended to be higher in patients with the AG genotype than the AA genotype (p\u2009=\u20090.096) and was significantly higher in patients with the GG genotype than the AA genotype (p\u2009=\u20090.019; Figure 1B). Consequently, it was significantly higher in patients with the AG or GG genotype than the AA genotype (p\u2009=\u20090.028; Figure 1B). \" This is during laparoscopic gynecological surgery where there was propofol and remifentanil infusion.","sentence":"Genotypes AG + GG is associated with increased dose of remifentanil in women with surgery as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:surgery","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4183989","article_title":"Genetic variant in folate homeostasis is associated with lower warfarin dose in African Americans","article_path":"articles/PMC4183989.md","variant_annotation_id":1184512426,"variant_haplotypes":"rs7856096","gene":"FPGS","drugs":"warfarin","pmid":25079360,"phenotype_category":"Dosage","significance":"yes","notes":"In the combined cohort each minor allele of rs7856096 contributed to -5.81 mg/week change in predicted dose (p= 3.93E-5) using the IWPC algorithm.","sentence":"Allele G is associated with decreased dose of warfarin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679361,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"esomeprazole, lansoprazole, omeprazole, rabeprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the *1/*1 genotype had a significantly lower eradication rate of Helicobacter pylori (H. pylori), as compared to those with the *1/*2 or *1/*3 genotype. This was a meta-analysis and included 16 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received antibiotics as part of triple therapy: either amoxicillin and clarithromycin, amoxicillin and metronidazole, or amoxicillin and levofloxacin.","sentence":"CYP2C19 *1/*1 is associated with decreased response to esomeprazole, lansoprazole, omeprazole or rabeprazole in people with Helicobacter Infections as compared to CYP2C19 *1/*2 + *1/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC2943151","article_title":"Dual specificity phosphatase-1 as a pharmacogenetic modifier of inhaled steroid response among asthma patients","article_path":"articles/PMC2943151.md","variant_annotation_id":769174165,"variant_haplotypes":"rs881152","gene":"DUSP1","drugs":"salbutamol","pmid":20673984,"phenotype_category":"Efficacy","significance":"no","notes":"Subjects were taking inhaled corticosteroids.","sentence":"Allele G is not associated with increased response to salbutamol in people with Asthma as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6071997","article_title":"Germline single nucleotide polymorphisms in ERBB3 and BARD1 genes result in a worse relapse free survival response for HER2-positive breast cancer patients treated with adjuvant based docetaxel, carboplatin and trastuzumab (TCH)","article_path":"articles/PMC6071997.md","variant_annotation_id":1449713604,"variant_haplotypes":"rs1136201","gene":"ERBB2","drugs":"carboplatin, docetaxel, trastuzumab","pmid":30071039,"phenotype_category":"Efficacy","significance":"yes","notes":"When compared to women who received different treatment regimens. Response was defined as likelihood of achieving relapse-free survival.","sentence":"Allele G is associated with decreased response to carboplatin, docetaxel and trastuzumab in women with Breast Neoplasms.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3727245","article_title":"CYP2C8*3 predicts benefit/risk profile in breast cancer patients receiving neoadjuvant paclitaxel","article_path":"articles/PMC3727245.md","variant_annotation_id":827922834,"variant_haplotypes":"rs1056836","gene":"CYP1B1","drugs":"paclitaxel","pmid":22527101,"phenotype_category":"Efficacy","significance":"no","notes":"Response = complete clinical response (cCR). Some patients who had HER2 overexpressing tumors received trastuzumab at the same time as the paclitaxel. Also reported in article as CYP1B1*3;C>G. Gene is on negative strand, so annotated as *3 = C.","sentence":"Genotypes CC + CG are not associated with increased response to paclitaxel in women with Breast Neoplasms as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767243,"variant_haplotypes":"rs12518285","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele T is not associated with trough concentration of vancomycin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4365300","article_title":"TRAF1/C5 but Not PTPRC Variants Are Potential Predictors of Rheumatoid Arthritis Response to Anti-Tumor Necrosis Factor Therapy","article_path":"articles/PMC4365300.md","variant_annotation_id":1444702671,"variant_haplotypes":"rs2240340","gene":"PADI4","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":25834819,"phenotype_category":"Efficacy","significance":"no","notes":"using either the absolute change in DAS28 or the proportion of good responders and non-responders as outcomes.","sentence":"Allele T is not associated with decreased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161620,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"methadone","pmid":21589866,"phenotype_category":"Dosage","significance":"no","notes":"No significant difference in methadone dose between genotypes. No details about which specific variants/alleles were tested for.","sentence":"CYP3A5 *3/*3 is not associated with dose of methadone in people with Opioid-Related Disorders as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC3776990","article_title":"S-1 plus irinotecan and oxaliplatin for the first-line treatment of patients with metastatic colorectal cancer: a prospective phase II study and pharmacogenetic analysis","article_path":"articles/PMC3776990.md","variant_annotation_id":1184510946,"variant_haplotypes":"UGT1A6*2a","gene":"UGT1A6","drugs":"irinotecan, oxaliplatin, tegafur / gimeracil / oteracil","pmid":23963147,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the objective response rate was seen between those with the *2 allele (82% responders) and those without one (63%).","sentence":"UGT1A6 *2a is not associated with response to irinotecan, oxaliplatin and s 1 (combination) in people with Colorectal Neoplasms.","alleles":"*2a","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC8553963","article_title":"Influence of Cytochrome P450 2C19 Genotype on Helicobacter pylori Proton Pump Inhibitor-Amoxicillin-Clarithromycin Eradication Therapy: A Meta-Analysis","article_path":"articles/PMC8553963.md","variant_annotation_id":1451581580,"variant_haplotypes":"CYP2C19 normal metabolizer genotype","gene":"CYP2C19","drugs":"amoxicillin, clarithromycin, lansoprazole","pmid":34721043,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Meta-analysis of studies that used omeprazole and lansoprazole as the first-generation PPI showed that the RR of failed eradication in CYP2C19 EMs compared with PMs\"","sentence":"CYP2C19 normal metabolizer is associated with decreased clinical benefit to amoxicillin, clarithromycin and lansoprazole in people with Helicobacter Infections as compared to CYP2C19 poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Efficacy:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"poor metabolizer"} +{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983338,"variant_haplotypes":"rs2112460","gene":"CACNA1A","drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here (A). Response considered to be successful with a 50% reduction at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele A is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5145728","article_title":"GENOME-WIDE AND GENE-BASED META-ANALYSES IDENTIFY NOVEL LOCI INFLUENCING BLOOD PRESSURE RESPONSE TO HYDROCHLOROTHIAZIDE","article_path":"articles/PMC5145728.md","variant_annotation_id":1448423646,"variant_haplotypes":"rs177852","gene":"TTC6","drugs":"hydrochlorothiazide","pmid":27802415,"phenotype_category":"Efficacy","significance":"yes","notes":"Participants were from the PEAR-1 black cohort. This association was associated with DBP response.","sentence":"Genotypes CC + CT is associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC9031832","article_title":"Influence of COMT (rs4680) and DRD2 (rs1076560, rs1800497) Gene Polymorphisms on Safety and Efficacy of Methylphenidate Treatment in Children with Fetal Alcohol Spectrum Disorders","article_path":"articles/PMC9031832.md","variant_annotation_id":1451769162,"variant_haplotypes":"rs1800497","gene":"DRD2","drugs":"methylphenidate","pmid":35457347,"phenotype_category":"Efficacy","significance":"no","notes":"\"No association of the studied polymorphisms: DRD2 rs1076560:C > A or DRD2 rs1800497:G > A with the efficacy or safety of MPH treatment was observed\"","sentence":"Allele A is not associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity and Fetal Alcohol Syndrome as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Attention Deficit Disorder with Hyperactivity, Other:Fetal Alcohol Syndrome","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356733,"variant_haplotypes":"rs419598","gene":"IL1RN","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5903228","article_title":"The impact of diuretic use and ABCG2 genotype on the predictive performance of a published allopurinol dosing tool","article_path":"articles/PMC5903228.md","variant_annotation_id":1449166167,"variant_haplotypes":"rs10011796","gene":"ABCG2","drugs":"allopurinol","pmid":29341237,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of allopurinol in people with Gout as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Gout","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5526237","article_title":"Association between the XRCC1 polymorphisms and clinical outcomes of advanced NSCLC treated with platinum-based chemotherapy: a meta-analysis based on the PRISMA statement","article_path":"articles/PMC5526237.md","variant_annotation_id":1448640030,"variant_haplotypes":"rs25487","gene":"XRCC1","drugs":"platinum","pmid":28743242,"phenotype_category":"Efficacy","significance":"yes","notes":"Pooled odds ratios (ORs) were performed for an allele model, a homozygous model, a heterozygous model, a recessive model and a dominant model. The association was significant for response rate and overall survival with the recessive model, but was not associated with progression free survival.","sentence":"Genotypes CT + TT is associated with decreased response to platinum in people with Lung Neoplasms as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3656883","article_title":"Novel Associations of VKORC1 Variants with Higher Acenocoumarol Requirements","article_path":"articles/PMC3656883.md","variant_annotation_id":1185002313,"variant_haplotypes":"rs55894764","gene":"VKORC1","drugs":"acenocoumarol","pmid":23691226,"phenotype_category":"Dosage","significance":"yes","notes":"16 vs 14 mg/week.","sentence":"Genotypes CT + TT is associated with increased dose of acenocoumarol as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1448613410,"variant_haplotypes":"rs4986893","gene":"CYP2C19","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with AUC, AUC0-12 when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together. Only P-values for AUC presented here.","sentence":"Allele G is not associated with metabolism of selumetinib in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166106,"variant_haplotypes":"rs1048786","gene":"PDIA2","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3506814","article_title":"Pharmacogenetic Influence of LOC387715/HTRA1 on the Efficacy of Bevacizumab Treatment for Age-Related Macular Degeneration in a Korean Population","article_path":"articles/PMC3506814.md","variant_annotation_id":1183699659,"variant_haplotypes":"rs1061170","gene":"CFH","drugs":"bevacizumab","pmid":23204795,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in improvement in visual acuity (using a Snellen eye exam chart then converted to a logarithm of the minimal angle of resolution value) or changes in central macular thickness (measured by optical coherence tomography) were seen between the genotypes, over either 6 or 12 months of treatment.","sentence":"Genotype CT is not associated with response to bevacizumab in people with Macular Degeneration as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4735517","article_title":"Genome-Wide Meta-Analysis of Cotinine Levels in Cigarette Smokers Identifies Locus at 4q13.2","article_path":"articles/PMC4735517.md","variant_annotation_id":1447814214,"variant_haplotypes":"rs57064725","gene":"PSMA4","drugs":"cotinine","pmid":26833182,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors conducted a GWAS meta-analysis to identify genetic variants associated with cotinine in current daily smokers (Caucasian). The following study cohorts were analyzed: ALSPAC, CARDIA, FinnTwin, Framingham, GenMets, MESA, NESDA, NTR, TwinsUK, YFS. This SNP was detected as a residual association after accounting for rs10851907.","sentence":"Allele A is associated with increased concentrations of cotinine in people with Tobacco Use Disorder as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4168390","article_title":"Characterizing variability in warfarin dose requirements in children using modelling and simulation","article_path":"articles/PMC4168390.md","variant_annotation_id":1184654392,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":24330000,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"A model was created to predict maintenance doses for children of different ages, all with a baseline INR of 1 and a target INR of 2.5, based on longitudinal data from children taking warfarin. Due to the nature of the model, the quantitative CYP2C9 allele effects on clearance were assumed to be the same as for adults - n=23 children had the *1/*3 genotype in the data cohort. CYP2C9 genotype, VKORC1 genotype, bodyweight, age, baseline INR, target INR and time since initiation of therapy were all found to be significant causes of warfarin dose variability in children. This association is based on a table presenting results from the model predicting warfarin dose for children of 2, 8 and 14 years old with different rs9923231 genotype and CYP2C9 genotype presented in the paper. CYP2C9*2 was defined as rs1799853 and *3 as rs1057910.","sentence":"CYP2C9 *1/*3 is associated with decreased dose of warfarin in children with Heart Diseases as compared to CYP2C9 *1/*1.","alleles":"*1/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715478,"variant_haplotypes":"rs11931604","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Efficacy","significance":"no","notes":"There was no significant difference in PPLpost-PPLpre between the genotype groups.","sentence":"Allele C is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3433845","article_title":"Interplay of Genetic Risk Factors (CHRNA5-CHRNA3-CHRNB4) and Cessation Treatments in Smoking Cessation Success","article_path":"articles/PMC3433845.md","variant_annotation_id":827921996,"variant_haplotypes":"rs16969968","gene":"CHRNA3, CHRNA5","drugs":"Drugs used in nicotine dependence","pmid":22648373,"phenotype_category":"Other","significance":"yes","notes":"in haplotype analysis; individuals with haplotype 2 (rs16969968 allele G - rs680244 allele T) were more likely to respond to active treatment/ had a lower risk of relapse (ability to quit smoking as measured by time to relapse to smoking over 60 days) than those with haplotype 2 that were treated with placebo. The ability to quit cigarette smoking was not significantly different in individuals with haplotype 1 (rs16969968 allele G - rs680244 allele C) that underwent active treatment compared to placebo (p=0.36).","sentence":"Allele G is associated with increased response to Drugs used in nicotine dependence in people with Tobacco Use Disorder.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5425333","article_title":"Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta\u2010Analysis","article_path":"articles/PMC5425333.md","variant_annotation_id":1448631741,"variant_haplotypes":"rs12208357","gene":"SLC22A1","drugs":"metformin","pmid":27859023,"phenotype_category":"Efficacy","significance":"no","notes":"This variant is not associated with metformin glycemic response assessed as HbA1c reduction in patients on metformin monotherapy.","sentence":"Allele T is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5520553","article_title":"Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma","article_path":"articles/PMC5520553.md","variant_annotation_id":1448820472,"variant_haplotypes":"rs9200","gene":"C6","drugs":"tacrolimus","pmid":28685716,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"When considering RECIPIENT genotype - those with the CC or CT genotype had decreased concentration/dose ratios as compared to those with the TT genotype at weeks 1, 2 and 3 of treatment. No significant difference was seen at week 4. In multiple linear regression analysis, recipient rs9200 genotype was associated with concentration/dose ratio at week 1 (p=0.005), 2 (p=0.045) and 3 (p=0.033) of treatment. Patients with hepatocellular carcinoma. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CT are associated with decreased dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6411020","article_title":"Genetic Polymorphisms in Aquaporin 1 as Risk Factors for Malignant Mesothelioma and Biomarkers of Response to Cisplatin Treatment","article_path":"articles/PMC6411020.md","variant_annotation_id":1450936460,"variant_haplotypes":"rs28362731","gene":"AQP1","drugs":"cisplatin","pmid":30840592,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between genotype and progress-free survival, overall survival or chemotherapy response in patients with malignant mesothelioma who were treated with cisplatin-based chemotherapy.","sentence":"Genotype AG is not associated with response to cisplatin in people with Mesothelioma as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Mesothelioma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356805,"variant_haplotypes":"rs696","gene":"NFKBIA","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype TT is associated with increased dose of sufentanil in people with Pain, Postoperative as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC9468554","article_title":"Impact of the novel CYP2C:TG haplotype and CYP2B6 variants on sertraline exposure in a large patient population","article_path":"articles/PMC9468554.md","variant_annotation_id":1452027063,"variant_haplotypes":"rs11188059","gene":"CYP2C18","drugs":"sertraline","pmid":35668575,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Compared with the reference group (CYP2C19*1/*1), a lower sertraline serum concentration was observed in CYP2C19*17/*17 (21.6% decrease, n = 44, p = 0.003), CYP2C:TG/CYP2C:TG (rs2860840 and rs11188059 together; 21.2% decrease, n = 26, p = 0.022), CYP2C19*17/ CYP2C:TG (20.0% decrease, n = 65, p = 0.003), and CYP2C19*1/*17 (17.0% decrease, n = 150, p < 0.001) patients, while no significant impact of CYP2C19*1/ CYP2C:TG genotype was detected in this patient population (n = 142, p > 0.1).","sentence":"Genotype GG is associated with decreased concentrations of sertraline as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6489578","article_title":"VKORC1 variants as significant predictors of warfarin dose in Emiratis","article_path":"articles/PMC6489578.md","variant_annotation_id":1451589740,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":31114289,"phenotype_category":"Dosage","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotype AA is associated with decreased dose of warfarin as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC9321338","article_title":"Genetic Polymorphisms Associated with Vincristine Pharmacokinetics and Vincristine-Induced Peripheral Neuropathy in Pediatric Oncology Patients","article_path":"articles/PMC9321338.md","variant_annotation_id":1452110320,"variant_haplotypes":"rs8192552","gene":"MTNR1B","drugs":"vincristine","pmid":35884569,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in a subset of study of vincristine-induced peripheral neuropathy with PK measurements.","sentence":"Genotype AG is associated with increased exposure to vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma, Hodgkin Disease, Rhabdomyosarcoma, Medulloblastoma or Glioma as compared to genotype GG.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia, Other:Hodgkin Disease, Other:Rhabdomyosarcoma, Other:Medulloblastoma, Other:Glioma","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC7497848","article_title":"Potential role of polymorphisms in the transporter genes ENT1 and MATE1/OCT2 in predicting TAS-102 efficacy and toxicity in patients with refractory metastatic colorectal cancer","article_path":"articles/PMC7497848.md","variant_annotation_id":1449146823,"variant_haplotypes":"rs316019","gene":"SLC22A2","drugs":"tipiracil hydrochloride, trifluridine","pmid":28992563,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was tested for association alone and with three other SNPs after univariate and multivariate analysis in a training (N= 52, Japan) and testing cohorts (N = 127, Italy). It was not significantly associated with progression-free or overall survival in either cohort.","sentence":"Allele A is not associated with response to tipiracil hydrochloride and trifluridine in people with Colorectal Neoplasms as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC8185249","article_title":"Genome-wide association study of letrozole plasma concentrations identifies non-exonic variants that may affect CYP2A6 metabolic activity","article_path":"articles/PMC8185249.md","variant_annotation_id":1451928000,"variant_haplotypes":"rs56113850","gene":"CYP2A6","drugs":"letrozole","pmid":34096894,"phenotype_category":null,"significance":"not stated","notes":"Study indicates lower metabolic activity for the T allele, as indicated by higher letrozole concentrations (\u03b2 = 1.45)","sentence":"Allele T is associated with increased concentrations of letrozole in women with Breast Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5101708","article_title":"Low heritability in pharmacokinetics of talinolol: a pharmacogenetic twin study on the heritability of the pharmacokinetics of talinolol, a putative probe drug of MDR1 and other membrane transporters","article_path":"articles/PMC5101708.md","variant_annotation_id":1448612409,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"talinolol","pmid":27825374,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was a twin study of monozygotic and dizygotic twins.","sentence":"Allele C is not associated with clearance of talinolol in healthy individuals as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5875353","article_title":"ADCY9 Genetic Variants and Cardiovascular Outcomes With Evacetrapib in Patients With High-Risk Vascular Disease: A Nested Case-Control Study","article_path":"articles/PMC5875353.md","variant_annotation_id":1449189139,"variant_haplotypes":"rs1967309","gene":null,"drugs":"evacetrapib","pmid":29525816,"phenotype_category":"Efficacy","significance":"no","notes":"After adjusting for risk factors, the OR for the AA genotype was 0.93 (95% CI, 0.73-1.19), for the AG genotype 1.05 (95% CI, 0.91-1.22), and for the GG genotype 1.02 (95% CI 0.85-1.24); P-value for interaction was P=0.71 and for trend P = 0.59. There was no association with changes in HDL-c, LDL-c, hsCRP, systolic or diastolic blood pressure.","sentence":"Allele A is not associated with response to evacetrapib in people with Cardiovascular Diseases as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163245,"variant_haplotypes":"rs1946519","gene":"IL18","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. This SNP is a proxy for rs1946518 (A-607C).","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4868001","article_title":"Frequencies of CYP2C9 polymorphisms in North Indian population and their association with drug levels in children on phenytoin monotherapy","article_path":"articles/PMC4868001.md","variant_annotation_id":1449565868,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"phenytoin","pmid":27179628,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2C9 *1/*2 is not associated with dose of phenytoin in children with as compared to CYP2C9 *1/*1.","alleles":"*1/*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6231319","article_title":"ADRB2 Gene Polymorphisms and Salbutamol Responsiveness in Serbian Children with Asthma","article_path":"articles/PMC6231319.md","variant_annotation_id":1451341447,"variant_haplotypes":"rs1042714","gene":"ADRB2","drugs":"salmeterol","pmid":30425908,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association of +79C>G polymorphisms with the asthma severity and bronchodilator response to inhaled salbutamol was found.","sentence":"Allele G is not associated with increased response to salmeterol in children Asthma as compared to allele C.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11685162","article_title":"RAD51 and RAD50 genetic polymorphisms from homologous recombination repair pathway are associated with disease outcomes and organ toxicities in AML","article_path":"articles/PMC11685162.md","variant_annotation_id":1452800940,"variant_haplotypes":"rs2299014","gene":"RAD50","drugs":"cytarabine, daunorubicin","pmid":39738991,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. \"All patients received remission induction chemotherapy with daunorubicin (45 mg/m2 per day for 3 days) and standard-dose cytosine arabinoside (200 mg/m2 per day for 7 days) with or without recombinant human granulocyte colony-stimulating factor.\" \"As demonstrated in Table 2, RAD50 rs2299014 (p\u2009<\u20090.01) and RAD51 rs1801320 (p\u2009=\u20090.012) variant alleles were associated with resistant disease.\"","sentence":"Genotypes AA + AC is associated with increased resistance to cytarabine and daunorubicin in people with Leukemia, Myeloid, Acute as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163587,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients, this variant passed validation in the EA cohort. Direction of effect was not stated.","sentence":"Allele T is associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11240873","article_title":"Precision Dosing for Tacrolimus Using Genotypes and Clinical Factors in Kidney Transplant Recipients of European Ancestry","article_path":"articles/PMC11240873.md","variant_annotation_id":1451714346,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"tacrolimus","pmid":33512723,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The A allele is equivalent to the CYP3A4*22 allele.","sentence":"Genotypes AA + AG are associated with decreased clearance of tacrolimus in people with Kidney Transplantation as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC8100460","article_title":"CYP3A5 and UGT1A9 Polymorphisms Influence Immunosuppressive Therapy in Pediatric Kidney Transplant Recipients","article_path":"articles/PMC8100460.md","variant_annotation_id":1451652220,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":33967795,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP3A5 *1/*1 + *1/*3 is associated with decreased dose-adjusted trough concentrations of tacrolimus in children with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC6248022","article_title":"A Low Fixed Tacrolimus Starting Dose Is Effective and Safe in Chinese Renal Transplantation Recipients","article_path":"articles/PMC6248022.md","variant_annotation_id":1449749486,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":29735966,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in renal function after transplantation, rate of delayed graft function, or rate of acute rejection within 30 days after transplant was found between the two genotype groups.","sentence":"CYP3A5 *3/*3 is not associated with response to tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC4087845","article_title":"Pharmacodynamic and kinetic effect of rabeprazole on serum gastrin level in relation to CYP2C19 polymorphism in Chinese Hans","article_path":"articles/PMC4087845.md","variant_annotation_id":1183622310,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"rabeprazole","pmid":16937451,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in median 24 hour intragastric pH or serum gastrin area under the concentration-time curve from 0-24 hours (AUC0-24) were seen between genotypes. Subjects were given rabeprazole for 8 days; 24 hour intragastric pH and serum gastrin AUC were measured on day 1 and day 8 after rabeprazole administration. Please note that the *2 allele was referred to by its previous designation (CYP2C19*m1).","sentence":"CYP2C19 *1/*1 is not associated with response to rabeprazole in healthy individuals as compared to CYP2C19 *2/*2.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672960,"variant_haplotypes":"rs148693084","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is associated with decreased metabolism of nicotine as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4503374","article_title":"Individual and combined associations of genetic variants in CYP3A4, CYP3A5, and SLCO1B1 with simvastatin and simvastatin acid plasma concentrations","article_path":"articles/PMC4503374.md","variant_annotation_id":1446896983,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"simvastatin, simvastatin acid","pmid":26164721,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients were followed for 6 weeks (40 mg simvastatin at bedtime) and seen at the clinic at 2 week intervals. Patients with the CT and CC genotypes had 71% and 248% higher plasma simvastatin acid at 12 hours, respectively, as compared to those with the TT genotypes.; In a separate analysis, the authors combined patients into groups based on their expected simvastatin acid/ simvastatin ratios (SVA/SV). The groups were low, intermediate, or high. The high and medium SVA/SV group included carriers of the C allele. There was a significant difference in 12 hr plasma SVA/SV ratios between the low, intermediate, and high SVA/SV ratio genotype groups","sentence":"Allele C is associated with increased concentrations of simvastatin and simvastatin acid in people with Hypercholesterolemia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4169706","article_title":"Genome-wide association analysis of anti-TNF drug response in rheumatoid arthritis patients","article_path":"articles/PMC4169706.md","variant_annotation_id":981483830,"variant_haplotypes":"rs4411591","gene":null,"drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":23233654,"phenotype_category":"Efficacy","significance":"no","notes":"This is one of three SNPs that showed directional consistency of association in 4 cohorts studied, along with improved p value in a 3 stage meta-analysis compared to the first GWAS stage. p did not reach genome-wide significance.","sentence":"Allele C is associated with response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4330076","article_title":"Pharmacogenomics of Hypertension: A Genome\u2010Wide, Placebo\u2010Controlled Cross\u2010Over Study, Using Four Classes of Antihypertensive Drugs","article_path":"articles/PMC4330076.md","variant_annotation_id":1448099742,"variant_haplotypes":"rs3814995","gene":"NPHS1","drugs":"losartan","pmid":25622599,"phenotype_category":"Efficacy","significance":"no","notes":"Because of the GWAS design, these p-values are suggestive, not significant. Each participant received losartan 50 mg, bisoprolol 5 mg, hydrochlorothiazide 25 mg, and amlodipine 5 mg daily, each as a monotherapy in randomized order for 4 weeks. The study started with a 4-week run-in placebo period, and all 4 drug treatments were separated by 4-week placebo periods. 24-hour ABP readings were recorded at the end of each treatment period.","sentence":"Allele T is associated with increased response to losartan in men with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4557249","article_title":"Association of serotonin transporter (SLC6A4) & receptor (5HTR1A, 5HTR2A) polymorphisms with response to treatment with escitalopram in patients with major depressive disorder: A preliminary study","article_path":"articles/PMC4557249.md","variant_annotation_id":1452040188,"variant_haplotypes":"rs6313","gene":"HTR2A","drugs":"escitalopram","pmid":26261165,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to escitalopram Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10526247","article_title":"Polymorphisms in the Drug Transporter Gene ABCB1 Are Associated with Drug Response in Saudi Epileptic Pediatric Patients","article_path":"articles/PMC10526247.md","variant_annotation_id":1452263400,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"antiepileptics","pmid":37760947,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented to plus chromosomal strand. \"good responders were classified as those who were totally free from seizures for at least 1 year during treatment with ASMs as a monotherapy or in combination at optimal tolerated therapeutic doses.\" \"good responders were significantly more likely to have the TT genotypes at rs1045642 and rs2032582 SNPs compared to poor responders.\" Specific antiseizure medications not mentioned.","sentence":"Genotype AA is associated with increased clinical benefit to antiepileptics in children with Epilepsy as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165138,"variant_haplotypes":"rs622342","gene":"SLC22A1","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with exposure to metformin as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038097,"variant_haplotypes":"rs5128","gene":"APOC3","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.","sentence":"Genotypes CC + CG are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162717,"variant_haplotypes":"rs11265572","gene":"NR1I3","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767387,"variant_haplotypes":"rs3002145","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele T is not associated with trough concentration of vancomycin.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3175513","article_title":"Influence of genetic, biological and pharmacological factors on warfarin dose in a Southern Brazilian population of European ancestry","article_path":"articles/PMC3175513.md","variant_annotation_id":1184510339,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":21320153,"phenotype_category":"Dosage","significance":"yes","notes":"in a Southern Brazilian population of European ancestry.","sentence":"Genotypes CT + TT is associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3544007","article_title":"The MTHFR C677T Variant is Associated with Responsiveness to Disulfiram Treatment for Cocaine Dependency","article_path":"articles/PMC3544007.md","variant_annotation_id":981502284,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"disulfiram","pmid":23335901,"phenotype_category":"Efficacy","significance":"yes","notes":"The drop in percentage of cocaine-positive urines for patients with the CT and TT genotypes over the 10 weeks of disulfiram treatment was significantly greater compared to those with the CC genotype. Please note alleles have been complemented to the positive chromosomal strand.","sentence":"Genotypes AA + AG are associated with increased response to disulfiram in people with Cocaine-Related Disorders as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cocaine dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6591035","article_title":"Pharmacogenetic role of dopamine transporter (SLC6A3) variation on response to disulfiram treatment for cocaine addiction","article_path":"articles/PMC6591035.md","variant_annotation_id":1451106680,"variant_haplotypes":"rs28363170","gene":"SLC6A3","drugs":"disulfiram","pmid":31087723,"phenotype_category":"Efficacy","significance":"yes","notes":"GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT allele referred to in the paper as the 10-repeat allele. Patients with the 10,10-repeat genotype showed a significantly greater decrease in the number of cocaine-positive urine tests and a significantly greater increase in the number of cocaine-negative urine tests than patients with either the 9,9-repeat or 9,10-repeat genotypes. This association was not seen in genotyped patients treated with placebo.","sentence":"Genotype GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT/GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT is associated with increased response to disulfiram in people with Cocaine-Related Disorders as compared to genotypes GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT/del + del/del.","alleles":"GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT/GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cocaine dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT/del + del/del","comparison_metabolizer_types":null} +{"pmcid":"PMC4470685","article_title":"Genome-Wide Association Study Identifies Novel Pharmacogenomic Loci For Therapeutic Response to Montelukast in Asthma","article_path":"articles/PMC4470685.md","variant_annotation_id":1444929392,"variant_haplotypes":"rs6475448","gene":"MLLT3","drugs":"montelukast","pmid":26083242,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients who were homozygous for rs6475448 showed markedly increased mean d forced expiratory volume (FEV1) from baseline after 8 weeks of montelukast. The largest increase was observed for Leukotriene Modifier or Corticosteroid or Corticosteroid-Salmeterol (LOCCS); the rs6475448-AA genotype was associated with a LS-mean delta FEV1 of 344 mL vs. -4.66 mL for rs6475448-GG genotype. Study Cohort: Discovery cohort (N=133): American Lung Association Asthma Clinical Research Center (ALA-ACRC)-supported trials, the Leukotriene Modifier Or Corticosteroid or Corticosteroid-Salmeterol Trial (LOCCS) and Effectiveness of Low Dose Theophylline as Add On Therapy for the Treatment of Asthma (LODO) trials. Replication cohort (N=184): Childhood Asthma Research and Education (CARE) Network- Characterizing the Response to a LT Receptor Antagonist and an Inhaled Corticosteroid and Pediatric Asthma Controller Trial (CLIC and PACT)","sentence":"Genotype AA is associated with increased response to montelukast in people with Asthma as compared to genotype GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2791975","article_title":"A novel polymorphism in ABCB1 gene, CYP2B6*6 and sex predict single-dose efavirenz population pharmacokinetics in Ugandans","article_path":"articles/PMC2791975.md","variant_annotation_id":1448995871,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":19916993,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Subjects homozygous for CYP2B6*6 (G516T, A785G) displayed 21% lower apparent oral clearance.","sentence":"CYP2B6 *6 is associated with decreased clearance of efavirenz in healthy individuals as compared to CYP2B6 *1/*1.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC7319006","article_title":"Influence of SLCO1B1 polymorphisms on lopinavir C trough in Serbian HIV/AIDS patients","article_path":"articles/PMC7319006.md","variant_annotation_id":1451116369,"variant_haplotypes":"rs4149032","gene":"SLCO1B1","drugs":"lopinavir","pmid":32022294,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Although the T allele was initially found to be significantly associated with decreased trough concentrations of lopinavir, this significance was lost following multivariate regression analysis.","sentence":"Allele T is not associated with trough concentration of lopinavir in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491195,"variant_haplotypes":"rs10214163","gene":"SV2C","drugs":"olanzapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype TT is not associated with response to olanzapine in people with Schizophrenia as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4278770","article_title":"Oxidative Stress-Related Genetic Polymorphisms Are Associated with the Prognosis of Metastatic Gastric Cancer Patients Treated with Epirubicin, Oxaliplatin and 5-Fluorouracil Combination Chemotherapy","article_path":"articles/PMC4278770.md","variant_annotation_id":1444694865,"variant_haplotypes":"rs1799895","gene":"SOD3","drugs":"epirubicin, fluorouracil, oxaliplatin","pmid":25545243,"phenotype_category":"Efficacy","significance":"not stated","notes":null,"sentence":"Allele G is not associated with response to epirubicin, fluorouracil and oxaliplatin in people with Neoplasm Metastasis and Stomach Neoplasms.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121640,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test.","sentence":"Allele A is not associated with response to oxycodone as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3988270","article_title":"Genetic variation in OPRD1 and the response to treatment for opioid dependence with buprenorphine in European American females","article_path":"articles/PMC3988270.md","variant_annotation_id":1184513638,"variant_haplotypes":"rs581111","gene":"OPRD1","drugs":"buprenorphine","pmid":24126707,"phenotype_category":"Efficacy","significance":"yes","notes":"Opioid dependence. Four cohorts were analyzed. The first three were women taking buprenorphine or methadone, women taking only buprenorphine and women taking only methadone, where opiod-positive urine drug screens or missing urine drug screens were both considered a \"positive\" drug screen. The fourth was women taking only buprenorphine were missing urine drug screens were coded as \"missing\" and not as \"positive\". No significant results were seen when considering women only taking methadone, but significant results were seen for all other cohorts: women with the AA and AG genotypes were more likely to have opioid-; \"positive\" urine drug screens, as compared to those with the GG genotype. Patients were treated with buprenorphine or methadone for 24 weeks.","sentence":"Genotypes AA + AG is associated with decreased response to buprenorphine in women with Opioid-Related Disorders as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4931969","article_title":"Childhood asthma exacerbations and the Arg-16 beta2 receptor polymorphism: a meta-analysis stratified by treatment","article_path":"articles/PMC4931969.md","variant_annotation_id":1447680639,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"corticosteroids, Leukotriene receptor antagonists, selective beta-2-adrenoreceptor agonists","pmid":26774659,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to corticosteroids, Leukotriene receptor antagonists and selective beta-2-adrenoreceptor agonists in children with Asthma as compared to genotype GG.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002413,"variant_haplotypes":"rs3218592","gene":"REV3L","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"no","notes":"pfSNP identified 2800 SNPS associated with key-words: 5-FU, capecitabine and oxilaplatin and colorectal cancer. Various criteria were used to determine 1536 SNPs to genotype. These SNPs were genotyped in a discovery cohort (N=62) and tested in a validation cohort (N=27). Both cohorts consisted of patients with colorectal cancer metastasis in liver. Three non-responder SNPs combined with any one of three SNPs in LD in the UMPS gene (rs2291078 A, rs3772809 G, rs3772810 G) account for 37.5% of all patients that were classified as non-responders to capecitabine/fluorouracil therapy. Combined multivariate collapsing analyses revealed a statistical significance between those SNPs and the \"non-responder\" phenotype.","sentence":"Allele T is associated with decreased response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3766937","article_title":"Metabolic capacity of CYP2D6 within an Iranian population (Mazandaran Province)","article_path":"articles/PMC3766937.md","variant_annotation_id":1452861060,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"dextromethorphan","pmid":24024018,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Subjects with metabolic ratio > 0.3 in log scale were classified as PMs and the remaining subjects with metabolic ratios \u2264 0.3 were classified as extensive metabolizers. Metabolic ratio of dextromethorphan/dextrorphan.","sentence":"CYP2D6 poor metabolizer is associated with decreased metabolism of dextromethorphan in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407705,"variant_haplotypes":"rs1051660","gene":"OPRK1","drugs":"butorphanol","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Study-wide significance was set to p<0.017.","sentence":"Allele A is not associated with response to butorphanol in healthy individuals as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5192124","article_title":"Population Pharmacokinetics and Pharmacogenetics Analysis of Rilpivirine in HIV-1-Infected Individuals","article_path":"articles/PMC5192124.md","variant_annotation_id":1448423579,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"rilpivirine","pmid":27799217,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of rilpivirine in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7613628","article_title":"Influence of CYP2B6 and CYP3A4 polymorphisms on the virologic and immunological responses of patients treated with efavirenz containing regimen","article_path":"articles/PMC7613628.md","variant_annotation_id":1451965060,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"efavirenz, lamivudine, tenofovir","pmid":35852913,"phenotype_category":"Efficacy","significance":"yes","notes":"Cases = VLS: viral load suppression (HIV-1 RNA copies ml-1less than 50 copies), controls = No VLS (HIV-1 RNA copies ml-1higher than 50 copies) at 6 months treatment. GG v AA was not significant but AG v AA was.","sentence":"Genotypes AG + GG is associated with increased clinical benefit to efavirenz, lamivudine and tenofovir in people with HIV Infections as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566623,"variant_haplotypes":"rs1229976","gene":"ADH1A","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this snp is NOT significant after Bonferroni correction (<0.00049). Also, the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele C is associated with metabolism of ethanol.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436780,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 3.3E-3.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC10970167","article_title":"PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis","article_path":"articles/PMC10970167.md","variant_annotation_id":1452433786,"variant_haplotypes":"rs1063192","gene":"CDKN2B, CDKN2B-AS1","drugs":"apremilast","pmid":38540428,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Allele-based association tests detected 64 SNPs displaying nominal p values < 0.05 (Table 2) including 10 SNPs with p values \u2264 0.01. \" Table 2 shows frequency of minor allele is responders and non-responders. Responder status maybe defined by PASI score improvement greater than 75% after 24\u201336 weeks of treatment.","sentence":"Allele G is associated with increased clinical benefit to apremilast in people with Psoriasis as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC9820603","article_title":"Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks","article_path":"articles/PMC9820603.md","variant_annotation_id":1452303340,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"aspirin, diclofenac, ibuprofen, indomethacin, ketorolac, naproxen","pmid":36614097,"phenotype_category":"Efficacy","significance":"yes","notes":"\"episodic migraine patients carrying the A allele of the TNF-\u03b1 promoter \u2212308 A/G polymorphism showed a significant association with a lack of efficacy after NSAID administration in migraine attacks compared to the G allele\"","sentence":"Allele A is associated with decreased clinical benefit to aspirin, diclofenac, ibuprofen, indomethacin, ketorolac or naproxen in people with Migraine without Aura as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4469933","article_title":"Association between opioid receptor mu 1 (OPRM1) gene polymorphisms and tobacco and alcohol consumption in a Spanish population","article_path":"articles/PMC4469933.md","variant_annotation_id":1450822109,"variant_haplotypes":"rs510769","gene":"OPRM1","drugs":"nicotine","pmid":26042510,"phenotype_category":"Dosage","significance":"no","notes":"No significant association between this variant and tobacco consumption.","sentence":"Allele T is not associated with dose of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5548439","article_title":"Genetic coding variants in the niacin receptor, hydroxyl-carboxylic acid receptor 2 (HCAR2), and response to niacin therapy","article_path":"articles/PMC5548439.md","variant_annotation_id":1448635798,"variant_haplotypes":"rs2454727","gene":"HCAR2","drugs":"niacin","pmid":28628560,"phenotype_category":"Efficacy","significance":"no","notes":"The study compared statin + placebo treated patients with statin + extended release niacin treated patients from the from the Atherothrombosis Intervention in Metabolic Syndrome with Low HDL/High Triglycerides and Impact on Global Health Outcomes (AIM-HIGH) trial. No association of this variant (p.M317I) with changes in low-density lipoprotein cholesterol, triglycerides, or high-density lipoprotein cholesterol at 1 year were found.","sentence":"Genotypes CT + TT is not associated with response to niacin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4104334","article_title":"Identification of Candidate Single-Nucleotide Polymorphisms in NRXN1 Related to Antipsychotic Treatment Response in Patients with Schizophrenia","article_path":"articles/PMC4104334.md","variant_annotation_id":1447674758,"variant_haplotypes":"rs12467557","gene":"NRXN1","drugs":"antipsychotics","pmid":24633560,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients homozygous for the A allele had significant improvement in positive symptoms (p=0.002), general psychopathology (p=0.005), thought disturbance (p=0.005), activation (p=0.005) and negative symptoms (p=0.005), while patients carrying the G allele showed no overall response. No significant results were seen for anergia (p=0.0505), paranoid belligerence (p=0.1212) or depression (p=0.1183). Additionally, no significant results were seen when the associations for positive and negative symptoms and general psychopathology were tested for replication in a different cohort (CATIE study).","sentence":"Genotype AA is associated with increased response to antipsychotics in people with Schizophrenia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511033,"variant_haplotypes":"CYP2D6*1, CYP2D6*1xN","gene":"CYP2D6","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note; diplotypes were described as *1/*XN, *XN/*XN. Pharmacokinetic model: gender and CYP2D6 metabolizer status explained 11% of the overall variability in donepezil clearance. Model-based simulations were also performed to compared predicted average plasma concentrations with a 10mg once daily dosage regimen suggesting a 41% decrease in average plasma concentrations for ultrarapid metabolizers. Extensive metabolizers were grouped together (diplotypes *1/*3, *1/*4, *1/*5, *1/*6, *1/*1, *4/*1xN, *6/*1xN).","sentence":"CYP2D6 *1/*1xN + *1xN/*1xN (assigned as ultrarapid metabolizer phenotype) is associated with increased clearance of donepezil in people with Alzheimer Disease.","alleles":"*1/*1xN + *1xN/*1xN","specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452437040,"variant_haplotypes":"rs2356369","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 6E-7.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5716599","article_title":"Measurements of 6-thioguanine nucleotide levels with TPMT and NUDT15 genotyping in patients with Crohn\u2019s disease","article_path":"articles/PMC5716599.md","variant_annotation_id":1449157093,"variant_haplotypes":"TPMT*1, TPMT*3A, TPMT*3C","gene":"TPMT","drugs":"thioguanine","pmid":29206869,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Study participants were genotyped at rs1142345 for the presence of the TPMT *3 allele. This SNP is found in the TPMT *3A, *3C, *3D and *3E haplotypes and it is not stated which of these haplotypes was found in the study cohort. All participants had either the *1/*1 or *1/*3 genotypes.","sentence":"TPMT *1/*3A + *1/*3C are associated with increased concentrations of thioguanine in people with Crohn Disease as compared to TPMT *1/*1.","alleles":"*1/*3A + *1/*3C","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Crohn Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3672984","article_title":"Association of a Single-Nucleotide Polymorphism in the Pregnane X Receptor (PXR 63396C\u2192T) with Reduced Concentrations of Unboosted Atazanavir","article_path":"articles/PMC3672984.md","variant_annotation_id":1448617354,"variant_haplotypes":"rs1523130","gene":"NR1I2","drugs":"atazanavir","pmid":18831695,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with concentrations of atazanavir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757023,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele G is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6081148","article_title":"Role of TNFRSF1A and TNFRSF1B polymorphisms in susceptibility, severity, and therapeutic efficacy of etanercept in human leukocyte antigen-B27-positive Chinese Han patients with ankylosing spondylitis","article_path":"articles/PMC6081148.md","variant_annotation_id":1449713732,"variant_haplotypes":"rs1061622","gene":"TNFRSF1B","drugs":"etanercept","pmid":30075559,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to etanercept was determined using the Assessment in Ankylosing Spondylitis 20 (ASAS20) and Assessment in Ankylosing Spondylitis 40 (ASAS40). Patients with the GT genotype had a significantly decreased response to etanercept at 12 months after the initiation of etanercept treatment compared to patients with the GG or TT genotypes. However, there was no significant difference in response between the different genotypes at 3 months after initiation of treatment.","sentence":"Genotype GT is associated with decreased response to etanercept in people with Spondylitis, Ankylosing as compared to genotypes GG + TT.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Spondylitis, Ankylosing","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4010098","article_title":"Clinical Pharmacology of an Atrasentan and Docetaxel Regimen in Men with Hormone-Refractory Prostate Cancer","article_path":"articles/PMC4010098.md","variant_annotation_id":1185235759,"variant_haplotypes":"rs2250242","gene":"ORM2","drugs":"docetaxel","pmid":24619498,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Systemic docetaxel clearance was 70.0 L/h in those with the AA genotype as compared to 44.5 L/h in those having at least one copy of the wild-type allele.","sentence":"Genotype AA is associated with increased clearance of docetaxel in men with Prostatic Neoplasms as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC7215378","article_title":"Naltrexone Use in Treating Hypersexuality Induced by Dopamine Replacement Therapy: Impact of OPRM1 A/G Polymorphism on Its Effectiveness","article_path":"articles/PMC7215378.md","variant_annotation_id":1451353640,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"naltrexone","pmid":32344532,"phenotype_category":"Efficacy","significance":"not stated","notes":"Case study of a patient with hypersexuality caused by dopamine replacement therapy who was successfully treated with naltrexone. The authors hypothesize that the response may be mediated by the patient's AG genotype.","sentence":"Genotype AG is associated with increased response to naltrexone in men with hypersexuality state and Parkinson Disease.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Amplification of sexual behavior, Other:Parkinson Disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4343187","article_title":"CHRNA4 rs1044396 is associated with smoking cessation in varenicline therapy","article_path":"articles/PMC4343187.md","variant_annotation_id":1445402189,"variant_haplotypes":"rs2072661","gene":"CHRNB2","drugs":"varenicline","pmid":25774163,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotypes AA + AG are not associated with response to varenicline in people with Tobacco Use Disorder as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10179231","article_title":"Genome-Wide Association Study Identifies Genetic Polymorphisms Associated with Estimated Minimum Effective Concentration of Fentanyl in Patients Undergoing Laparoscopic-Assisted Colectomy","article_path":"articles/PMC10179231.md","variant_annotation_id":1452101191,"variant_haplotypes":"rs966775","gene":"DRD1","drugs":"fentanyl","pmid":37176129,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Compared with non-carriers, G-allele carriers of this SNP were associated with higher plasma and/or effect-site MECs of fentanyl, suggesting that G allele carriers would feel pain at a higher plasma/effect-site fentanyl concentration and thus would require more frequent self-dosing of fentanyl for adequate pain control. \"","sentence":"Genotypes AG + GG is associated with increased concentrations of fentanyl in people with Pain, Postoperative as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4160394","article_title":"CYP3A4*22 and CYP3A5*3 are associated with increased levels of plasma simvastatin concentrations in the cholesterol and pharmacogenetics study cohort","article_path":"articles/PMC4160394.md","variant_annotation_id":1184746917,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"simvastatin","pmid":25051018,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP3A4*22 carriers had 14% higher concentrations; of simvastatin acid (P = 0.04) and 20% higher concentrations of simvastatin lactone; (P= 0.06) compared with noncarriers.","sentence":"CYP3A4 *1/*22 + *22/*22 is associated with concentrations of simvastatin as compared to CYP3A4 *1/*1.","alleles":"*1/*22 + *22/*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC8295171","article_title":"CYP2D6 GENOTYPE AND REDUCED CODEINE ANALGESIC EFFECT IN REAL-WORLD CLINICAL PRACTICE","article_path":"articles/PMC8295171.md","variant_annotation_id":1451404282,"variant_haplotypes":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2D6","drugs":"codeine","pmid":33750887,"phenotype_category":"Efficacy","significance":"not stated","notes":"Fewer patients in the pooled PM/IM group were categorized as responders to codeine compared to the pooled NM/UM group. Authors tested for the following alleles: *2, *3, *4, *5, *6, *9, *10, *17, *29, *35, *41, and *42 as well as copy number variation. Diplotypes were mapped to phenotpye groups using the methods in the CPIC/DPWG CYP2D6 Standardization Project.","sentence":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes are associated with decreased response to codeine in people with Pain as compared to CYP2D6 normal metabolizer and ultrarapid metabolizer genotypes.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and ultrarapid metabolizer"} +{"pmcid":"PMC4788379","article_title":"PTPRD gene associated with blood pressure response to atenolol and resistant hypertension","article_path":"articles/PMC4788379.md","variant_annotation_id":1446902873,"variant_haplotypes":"rs12346562","gene":null,"drugs":"bisoprolol","pmid":26425837,"phenotype_category":"Efficacy","significance":"no","notes":"rs12346562 had a trend in association with response to bisoprolol in 207 Finnish men in the genetics of drug responsiveness in essential hypertension study.","sentence":"Genotypes AA + AC is associated with increased response to bisoprolol in people with Hypertension as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161472,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*2xN","gene":"CYP2D6","drugs":"methadone","pmid":21589866,"phenotype_category":"Dosage","significance":"yes","notes":"CYP2D6 ultrarapid metabolizers had significantly higher doses of methadone compared to those classed as normal metabolizers. No details about which specific variants/alleles were tested for are given and it is not apparent how different genotypes were categorized into metabolizer phenotypes.","sentence":"CYP2D6 *1/*2xN + *2/*2xN (assigned as ultrarapid metabolizer phenotype) are associated with increased dose of methadone in people with Opioid-Related Disorders as compared to CYP2D6 normal metabolizer.","alleles":"*1/*2xN + *2/*2xN","specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815045,"variant_haplotypes":"rs17382202","gene":"PDE4D","drugs":"quetiapine","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of T alleles present in a patient was negatively associated with PGI score. Please note that this variant is in high linkage disequilibrium with rs17742120 and rs2164660.","sentence":"Allele T is associated with increased response to quetiapine in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC1401654","article_title":"Further evidence for an acetylator phenotype difference in the metabolism of hydralazine in man","article_path":"articles/PMC1401654.md","variant_annotation_id":1451140360,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"hydralazine","pmid":7259927,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Note, NAT2 not specified just categorized in slow and rapid acetylator. Patients' acetylator status was determined by the sulphamethazine method. Subjects were undergoing maintenance therapy with hydralazine, twice daily 100 mg. Patients had been receiving in conjunction with hydralazine a number of other drugs: (numbers of patients indicated):chlorethiazole 1+; bendrofluazide 8; atenolol 7; clonidine 1+; glyceryltrinitrate 1*; propranolol 6; methyldopa 6; oxprenolo l2; digoxin 2+; frusemide 2; naproxen 1+; diazepam 1*; navidrex 2*, moduretic 4; SlowK 7; bethanidine 2 and hydrochlorothiazide 1* (+These drugs were only administered to rapid acetylators; *these drugs were only administered to slow acetylators). The level of the acetylated metabolites NAcHPZ and TP (terminal product of the primary acetylation pathway) are higher in the rapid compared with the slow acetylator phenotype. Conversely the level of PZ is significantly higher in slow compared with rapid acetylators.","sentence":"NAT2 slow acetylator is associated with decreased metabolism of hydralazine in people with Hypertension as compared to NAT2 rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"rapid acetylator"} +{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715576,"variant_haplotypes":"rs12645107","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Dosage","significance":"no","notes":"There was no significant difference in 24 hour fentanyl use between the genotype groups.","sentence":"Allele A is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3237821","article_title":"ASSOCIATIONS OF ABCB1 3435C>T AND IL-10 -1082G>A POLYMORPHISMS WITH LONG-TERM SIROLIMUS DOSE REQUIREMENTS IN RENAL TRANSPLANT PATIENTS","article_path":"articles/PMC3237821.md","variant_annotation_id":1448567934,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"sirolimus","pmid":22094953,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in log-transformed dose-adjusted trough concentrations was seen between any of the genotypes *1/*1, *1/*3 or *3/*3.","sentence":"CYP3A5 *1 is not associated with dose-adjusted trough concentrations of sirolimus in people with Kidney Transplantation as compared to CYP3A5 *3.","alleles":"*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3","comparison_metabolizer_types":null} +{"pmcid":"PMC9481373","article_title":"Tacrolimus Concentration Is Effectively Predicted Using Combined Clinical and Genetic Factors in the Perioperative Period of Kidney Transplantation and Associated with Acute Rejection","article_path":"articles/PMC9481373.md","variant_annotation_id":1451893787,"variant_haplotypes":"rs3740066","gene":"ABCC2","drugs":"tacrolimus","pmid":36118414,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"heterozygote had increased C/D but not significantly so.","sentence":"Genotype TT is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC2751283","article_title":"CYP2D6 Genotyping as an alternative to phenotyping for determination of metabolic status in a clinical trial setting","article_path":"articles/PMC2751283.md","variant_annotation_id":1183629536,"variant_haplotypes":"CYP2D6*4","gene":"CYP2D6","drugs":"debrisoquine, dextromethorphan","pmid":11741249,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Out of 558 subjects previously phenotyped for clinical studies and genotyped for this study, 46 PM were found. 30 of these 46 were *4/*4. One *4/*4 had been phenotyped on dextromethorphan as EM.","sentence":"CYP2D6 *4/*4 is associated with decreased metabolism of debrisoquine or dextromethorphan.","alleles":"*4/*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC9768477","article_title":"Roles of the m6A methyltransferases METTL3, METTL14, and WTAP in pulmonary tuberculosis","article_path":"articles/PMC9768477.md","variant_annotation_id":1451974780,"variant_haplotypes":"rs1139130","gene":"METTL3","drugs":"Drugs For Treatment Of Tuberculosis","pmid":36569923,"phenotype_category":"Efficacy","significance":"yes","notes":"drug regimen is not specified.","sentence":"Genotype GG is associated with increased resistance to Drugs For Treatment Of Tuberculosis in people with Tuberculosis as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4116670","article_title":"OCT1 genetic variants influence the pharmacokinetics of morphine in children","article_path":"articles/PMC4116670.md","variant_annotation_id":1451097480,"variant_haplotypes":"rs72552763","gene":"SLC22A1","drugs":"morphine","pmid":23859569,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Children with two loss of function SLC22A1 alleles (*2 rs72552763 GAT>del, *3 rs12208357C>T, *4 rs34130495 G>A, or *5 rs34059508 G>A) were grouped together and had significantly lower clearance compared to children with the *1/*1 or *1/variant genotype.","sentence":"Genotype del/del is associated with decreased clearance of morphine in children with adenotonsillectomy as compared to genotypes GAT/GAT + GAT/del.","alleles":"del/del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:adenotonsillectomy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GAT/GAT + GAT/del","comparison_metabolizer_types":null} +{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491237,"variant_haplotypes":"rs11960832","gene":"SV2C","drugs":"quetiapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype TT is not associated with response to quetiapine in people with Schizophrenia as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5074472","article_title":"Pharmacokinetics of Bupropion and Its Pharmacologically Active Metabolites in Pregnancy","article_path":"articles/PMC5074472.md","variant_annotation_id":1448257502,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"bupropion","pmid":27528039,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2B6 *6 is associated with decreased metabolism of bupropion in women with Pregnancy as compared to CYP2B6 *1.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3358293","article_title":"Therapeutic Dosing of Acenocoumarol: Proposal of a Population Specific Pharmacogenetic Dosing Algorithm and Its Validation in North Indians","article_path":"articles/PMC3358293.md","variant_annotation_id":981954427,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"acenocoumarol","pmid":22629463,"phenotype_category":"Dosage","significance":"yes","notes":"Variants at this position in the VKORC1 gene were found to exhibit a gene-dose effect in the following manner: CC>CT>TT. This study also provides an algorithm for predicting the maintenance dose of acenocoumarol using genotypes as well as clinical factors as predictive variables.","sentence":"Genotype CC is associated with increased dose of acenocoumarol as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC11269006","article_title":"IL17RB genetic variants are associated with acamprosate treatment response in patients with alcohol use disorder: A proteomics-informed genomics study","article_path":"articles/PMC11269006.md","variant_annotation_id":1452504507,"variant_haplotypes":"rs6801605","gene":"CHDH, IL17RB","drugs":"acamprosate","pmid":38852760,"phenotype_category":"Efficacy","significance":"yes","notes":"\"IL17RB SNPs were associated with acamprosate treatment outcomes. (A) The locus zoom plot shows the top SNPs of the GWAS for IL17RB on chromosome 3. \"\"Our results indicated that the rs6801605 SNP was associated with time until relapse to alcohol use during the three months of acamprosate treatment (p: 0.038) (Fig. 3B).\"","sentence":"Allele A is associated with increased clinical benefit to acamprosate in people with Alcoholism as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11628867","article_title":"Correlation of the DRD2 gene polymorphism with psychopathology and predictive antimanic responses in patients with bipolar mania","article_path":"articles/PMC11628867.md","variant_annotation_id":1452788680,"variant_haplotypes":"rs1800497","gene":"DRD2","drugs":"lithium, olanzapine","pmid":39660002,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The early response in the 2nd week correlates with genotype GG (see Table 5). The higher early response in the 2nd week in patients with genotype GG of DRD2 gene polymorphism rs1800497 was found than that in patients with genotype AA + AG. Remission in the 8th week also correlates with genotyp GG (see Table 6). The higher remission in the 8th week in patients with genotype GG of DRD2 gene polymorphism rs1800497 was found than that in patients with genotype AA + AG.\" \"Manic patients with genotype GG had a greater improvement in the YMRS score due to a greater early effective response and remission, which was not related to higher doses and serum concentrations of olanzapine and lithium.\"","sentence":"Genotype GG is associated with increased clinical benefit to lithium and olanzapine in people with Bipolar Disorder as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5009007","article_title":"A Pharmacogenetic Investigation of Intravenous Furosemide in Decompensated Heart Failure: A Meta-Analysis of 3 Clinical Trials","article_path":"articles/PMC5009007.md","variant_annotation_id":1448424016,"variant_haplotypes":"rs17268282","gene":"ABCC4","drugs":"furosemide","pmid":26927285,"phenotype_category":"Efficacy","significance":"yes","notes":"Decompensated heart failure. Meta-analysis of the DOSE, CARRESS and ROSE randomized trials. Carriers of the T allele experienced a greater amount of weight loss, and therefore an increased response to furosemide, as compared to those with the G allele. No association was seen between this variant and net fluid loss (p=0.12). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele T is associated with increased response to furosemide in people with Heart Failure as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC9328121","article_title":"Analysis of Genetic and Clinical Factors Associated with Buprenorphine Response","article_path":"articles/PMC9328121.md","variant_annotation_id":1451647600,"variant_haplotypes":"rs11782370","gene":null,"drugs":"buprenorphine","pmid":34488071,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors note that this association is nominally significant.","sentence":"Allele T is associated with increased response to buprenorphine in people with Opioid-Related Disorders as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5468510","article_title":"A polymorphism in the OPRM1 3\u2032 untranslated region is associated with methadone efficacy in treating opioid dependence","article_path":"articles/PMC5468510.md","variant_annotation_id":1448526029,"variant_haplotypes":"rs10485058","gene":"OPRM1","drugs":"buprenorphine","pmid":27958381,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the percentage of opioid-positive urine drug screens over 24 weeks was seen between patients with the AA and AG+GG genotypes. This SNP was associated with response to methadone treatment.","sentence":"Genotype AA is not associated with response to buprenorphine in people with Opioid-Related Disorders as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183632057,"variant_haplotypes":"rs4791040","gene":"PRKCA","drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"yes","notes":"The association was with diastolic blood pressure response. It did not reach genome-wide significance when only PEAR + GERA were analyzed, but this SNP was selected for replication in NORDIL and this association was significant. Observations: 4.46 mm Hg decreased reduction of diastolic blood pressure per T allele in PEAR + GERA, 3.30 mm Hg decreased reduction of diastolic blood pressure per T allele in NORDIL, and 4.17 mm Hg decreased reduction of diastolic blood pressure per T allele in PEAR + GERA + NORDIL.","sentence":"Allele T is associated with decreased response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3988270","article_title":"Genetic variation in OPRD1 and the response to treatment for opioid dependence with buprenorphine in European American females","article_path":"articles/PMC3988270.md","variant_annotation_id":1184513727,"variant_haplotypes":"rs529520","gene":"OPRD1","drugs":"buprenorphine, methadone","pmid":24126707,"phenotype_category":"Efficacy","significance":"no","notes":"Opioid dependence. This genetic variant did not have a significant effect on the percentage of opioid-positive urine drug screens or missing urine drug screens in males. Note that significant results were seen for females. Patients were treated with buprenorphine or methadone for 24 weeks.","sentence":"Allele A is not associated with response to buprenorphine or methadone in men with Opioid-Related Disorders as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in men with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5614982","article_title":"Impact of Gastric H+/K+-ATPase rs2733743 on the Intragastric pH-Values of Dexlansoprazole Injection in Chinese Subjects","article_path":"articles/PMC5614982.md","variant_annotation_id":1451136987,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"dexlansoprazole","pmid":29018343,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with metabolism of dexlansoprazole in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6347826","article_title":"Effect of TCF7L2 polymorphism on pancreatic hormones after exenatide in type 2 diabetes","article_path":"articles/PMC6347826.md","variant_annotation_id":1452878400,"variant_haplotypes":"rs7903146","gene":"TCF7L2","drugs":"exenatide","pmid":30700996,"phenotype_category":"Efficacy","significance":"yes","notes":"\"After treatment with exenatide, only CT/TT individuals demonstrated a significant insulin reduction at 30\u2013180 min during the meal test compared with CC subjects (p\u2009<\u20090.05). Patients with the CC genotype presented no differences in insulin concentrations before and after treatment. The area under the insulin curve between 0 and 180 min was similar between groups before exenatide but decreased only in the CT/TT group after exenatide (p\u2009<\u20090.001) (Fig. 1b).\"","sentence":"Genotypes CT + TT is associated with increased response to exenatide in people with Diabetes Mellitus, Type 2 as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703568,"variant_haplotypes":"rs12505746","gene":"TET2","drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in systolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele A is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5346034","article_title":"Effect of UGT2B10, UGT2B17, FMO3, and OCT2 Genetic Variation on Nicotine and Cotinine Pharmacokinetics and Smoking in African Americans","article_path":"articles/PMC5346034.md","variant_annotation_id":1448602091,"variant_haplotypes":"rs2266782","gene":"FMO3","drugs":"cotinine","pmid":28178031,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This SNP is not associated with the pharmacokinetic measures of cotinine. Measures include half-life, Cmax, AUC, non renal clearance, and total clearance.","sentence":"Allele G is not associated with metabolism of cotinine in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375616,"variant_haplotypes":"rs10011796","gene":"ABCG2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele T is associated with decreased response to allopurinol as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375599,"variant_haplotypes":"rs4148157","gene":"ABCG2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele A is associated with decreased response to allopurinol as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4296935","article_title":"Warfarin Dosage Response Related Pharmacogenetics in Chinese Population","article_path":"articles/PMC4296935.md","variant_annotation_id":1444694728,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":25594941,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"130 plasma samples were obtained 12 hours after the last dose of warfarin. The plasma warfarin concentrations of these samples were comparing plasma concentration within the group of patients with INR between 1.5\u20132.5 (n = 92) between genotype groups. rs9923231 was associated with a significant reduction of warfarin plasma concentration ( genotype AA 1117.29\u00b1323.23 ng/ml vs genotype AG 1675.73\u00b1431.09 ng/ml, p < 0.001). rs9923231 was not included in the multiple linear regression analysis because of collinearity. Patients were grouped according to INR and genotypes and those with the G allele needed a higher plasma concentration to achieve the similar goal INR.","sentence":"Genotype TT is associated with decreased concentrations of warfarin in people with as compared to genotype CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981747509,"variant_haplotypes":"rs1008899","gene":"NEDD4L","drugs":"hydrochlorothiazide","pmid":23353631,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to hydrochlorothiazide in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6510382","article_title":"VKORC1 and Novel CYP2C9 Variation Predict Warfarin Response in Alaska Native and American Indian People","article_path":"articles/PMC6510382.md","variant_annotation_id":1450370833,"variant_haplotypes":"rs8104361","gene":"CYP4F11","drugs":"warfarin","pmid":30821933,"phenotype_category":"Dosage","significance":"no","notes":"in Alaska Native and American Indian People.","sentence":"Allele A is not associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121699,"variant_haplotypes":"rs963549","gene":"OPRK1","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test, subjective effects of oxycodone.","sentence":"Allele T is not associated with response to oxycodone as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003357,"variant_haplotypes":"rs3788200","gene":"SLC19A1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There is no association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: AG+GG (0.45 (0.09\u201341.63)) vs. AA (0.47 (0.11\u201334.05)).","sentence":"Genotypes AG + GG are not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5449482","article_title":"Effect of Genetic Variability in the CYP4F2, CYP4F11, and CYP4F12 Genes on Liver mRNA Levels and Warfarin Response","article_path":"articles/PMC5449482.md","variant_annotation_id":1448633907,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":28620303,"phenotype_category":"Dosage","significance":"yes","notes":"The T allele was associated with increased stable dose (mg/day) of warfarin and explained 4.3% of the variance in dose. CC=3.7\u00b10.1 CT=4.3\u00b10.2 TT=5.3\u00b10.4. The addition of rs2108622 to PGx algorithm (included CYP2C9, VKORC1) explained a further 0.5\u20130.7% of variability. When conditioned on rs7248867, the association w/ rs2108622 & warfarin dose decreased (beta initial = 0.078, beta conditional = 0.065, initial P-value = 0.003, conditional P-value = 0.015). When conditioned on rs2074568, decrease of magnitude and significance also rs2108622 (beta conditional = 0.069, conditional P-value= 0.009). Suggests that rs7248867 and rs2074568 are correlated with rs2108622.","sentence":"Allele T is associated with increased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11730665","article_title":"Comparative efficacy and safety of sitagliptin or gliclazide combined with metformin in treatment-naive patients with type 2 diabetes: A single-center, prospective, randomized, controlled, noninferiority study with genetic polymorphism analysis","article_path":"articles/PMC11730665.md","variant_annotation_id":1453075980,"variant_haplotypes":"rs2285676","gene":"KCNJ11","drugs":"sitagliptin","pmid":39792745,"phenotype_category":"Efficacy","significance":"yes","notes":"\"For KCNJ11 gene polymorphisms, patients with the rs2285676 CC genotype in the study group had a median HbA1c improvement of 1.02 (IQR, 0.90\u20131.22), while the control group showed 1.31 (IQR, 1.08\u20131.42; P\u2005<\u2005.001), indicating more substantial insulin secretion capability with sitagliptin.\"","sentence":"Genotype CC is associated with decreased response to sitagliptin in people with Diabetes Mellitus, Type 2.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4503374","article_title":"Individual and combined associations of genetic variants in CYP3A4, CYP3A5, and SLCO1B1 with simvastatin and simvastatin acid plasma concentrations","article_path":"articles/PMC4503374.md","variant_annotation_id":1446897010,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"simvastatin, simvastatin acid","pmid":26164721,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Patients were followed for 6 weeks (40 mg simvastatin at bedtime) and seen at the clinic at 2 week intervals.","sentence":"CYP3A5 *3 is not associated with concentrations of simvastatin or simvastatin acid in people with Hypercholesterolemia as compared to CYP3A5 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC8445626","article_title":"The genetics of cardiac failure: Role of a G protein-coupled receptor polymorphism in therapeutic response in an Indian population","article_path":"articles/PMC8445626.md","variant_annotation_id":1451863980,"variant_haplotypes":"rs2230345","gene":"GRK5","drugs":"Beta Blocking Agents","pmid":34541364,"phenotype_category":"Efficacy","significance":"yes","notes":"Heart failure patients taking beta blockers were evaluated for cardiac output and hospitalization-free survival.","sentence":"Genotypes AT + TT are associated with increased response to Beta Blocking Agents in people with Heart Failure as compared to genotype AA.","alleles":"AT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC8184575","article_title":"Effect of race and glucuronidation rates on the relationship between nicotine metabolite ratio and nicotine clearance","article_path":"articles/PMC8184575.md","variant_annotation_id":1451700120,"variant_haplotypes":"rs2942857","gene":"UGT2B10","drugs":"nicotine","pmid":33675323,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No effect of the UGT2B10 variant genotypes on the ability of plasma nicotine metabolite ratio to predict nicotine clearance.","sentence":"Allele A is not associated with clearance of nicotine as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC9536193","article_title":"Germline Polymorphisms as Biomarkers of Tumor Response in Colorectal Cancer Patients Treated with Anti-EGFR Monoclonal Antibodies: A Systematic Review and Meta-Analysis","article_path":"articles/PMC9536193.md","variant_annotation_id":1449165345,"variant_haplotypes":"rs20417","gene":"PTGS2","drugs":"cetuximab, panitumumab","pmid":27897268,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis with 3 studies. The authors did not provide the exact number of patients but stated that \"the median number of patients per analysis was 110 (range 50 - 740)\". Most definitions of response were variations of the RECIST criteria.","sentence":"Allele C is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2681284","article_title":"Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate","article_path":"articles/PMC2681284.md","variant_annotation_id":769173671,"variant_haplotypes":"rs1127354","gene":"ITPA","drugs":"methotrexate","pmid":19193698,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5355121","article_title":"Impact of NUDT15 polymorphisms on thiopurines-induced myelotoxicity and thiopurines tolerance dose","article_path":"articles/PMC5355121.md","variant_annotation_id":1448531631,"variant_haplotypes":"rs116855232","gene":"NUDT15","drugs":"azathioprine","pmid":28088792,"phenotype_category":"Dosage","significance":"yes","notes":"Meta-analysis with 13 studies. T allele carriers required 28% lower mean daily thiopurine dose as compared to those with the CC genotype. When patients with acute lymphoblastic leukemia (ALL) and inflammatory bowel disease (IBD) were separated, there was a similar statistically significant dose reduction for both groups.","sentence":"Genotypes CT + TT are associated with decreased dose of azathioprine in people with Inflammatory Bowel Diseases and Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Inflammatory Bowel Diseases, Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4631197","article_title":"Sulfasalazine disposition in a subject with 376C>T (nonsense mutation) and 421C>A variants in the ABCG2 gene","article_path":"articles/PMC4631197.md","variant_annotation_id":1444843306,"variant_haplotypes":"rs72552713","gene":"ABCG2","drugs":"sulfasalazine","pmid":25872459,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"A single individual was compound heterozygous at rs72552713 (CT) and rs2231142 (GT) in BCRP as compared to other individuals who were heterozygous only at rs2231142 (GT). The individual had a higher AUC(0,48 h) as compared to other other individuals who were only heterozygous at rs2231142 (GT) (779 vs.292 \u00b1 97 \u00b5gml\u20131h, respectively) as well as a higher Cmax (50.3 vs.24.0\u00b19.3 \u00b5gml\u20131, respectively), and a lower apparent oral clearance (2.44 vs. 7.3 \u00b12.2 l h\u20131, respectively). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AG is associated with decreased metabolism of sulfasalazine in healthy individuals.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3161212","article_title":"Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency","article_path":"articles/PMC3161212.md","variant_annotation_id":827806085,"variant_haplotypes":"CYP3A7*1A, CYP3A7*1C","gene":"CYP3A7","drugs":"cortisone acetate","pmid":21915484,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"CYP3A7 *1C is associated with decreased dose of cortisone acetate in children with Adrenal Hyperplasia, Congenital as compared to CYP3A7 *1A.","alleles":"*1C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Adrenal Hyperplasia, Congenital","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1A","comparison_metabolizer_types":null} +{"pmcid":"PMC10982510","article_title":"The frequency of NUDT15 rs116855232 and its impact on mercaptopurine-induced toxicity in Syrian children with acute lymphoblastic leukemia","article_path":"articles/PMC10982510.md","variant_annotation_id":1452436900,"variant_haplotypes":"rs116855232","gene":"NUDT15","drugs":"mercaptopurine","pmid":38562167,"phenotype_category":"Dosage","significance":"yes","notes":"\"Therapeutic dose of 6-mercaptopurine during maintenance therapy according to NUDT15 rs116855232 genotype in 92 pediatric acute lymphoblastic leukemia cases. The median 6MP dose intensity was 5%, 54.69% and 100% for the genotypes TT (n=1), CT (n=5) and CC (n=86), respectively (P=0.009).\" Study also measured rs768324690, rs147390019, rs139551410, rs61973267 but these were monomorphic.","sentence":"Genotype TT is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4628029","article_title":"CYP3A5 and ABCB1 genotype influence tacrolimus and sirolimus pharmacokinetics in renal transplant recipients","article_path":"articles/PMC4628029.md","variant_annotation_id":1447520859,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"sirolimus, tacrolimus","pmid":26543771,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No associations with tacrolimus or sirolimus pharmacokinetic parameters were seen for this SNP. Genotypes present were CC, CT, TT and A carriers. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is not associated with metabolism of sirolimus or tacrolimus in people with Kidney Transplantation as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144268,"variant_haplotypes":"rs1611255","gene":null,"drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that this SNP is given the ID rs144373461 in the paper.","sentence":"Allele A is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":1448634968,"variant_haplotypes":"rs7793837","gene":"CRHR2","drugs":"salbutamol, selective beta-2-adrenoreceptor agonists","pmid":18408560,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with decreased response to salbutamol and selective beta-2-adrenoreceptor agonists in people with Asthma as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767314,"variant_haplotypes":"rs3748631","gene":"AIDA","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated. Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Allele A is not associated with trough concentration of vancomycin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":982043600,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"no","notes":"No significant change in the likelihood of a patient reaching a target mean arterial pressure concentration of <= 92 mmHg or <= 107 mmHg was seen between genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is not associated with response to amlodipine in people with Hypertension as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5598801","article_title":"Effect of UDP-Glucuronosyltransferase (UGT) 1A Polymorphism (rs8330 and rs10929303) on Glucuronidation Status of Acetaminophen","article_path":"articles/PMC5598801.md","variant_annotation_id":1451342940,"variant_haplotypes":"rs8330","gene":"MROH2A, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9","drugs":"acetaminophen glucuronide","pmid":28932176,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Caution there is a possible strand issue with this C/G variant, authors describe variant as 2042C>G with C as major allele. Complemented here. Authors do not measure significance rather calculate the k value of concordance between genotype and speed of glucuronidation : homozygote reference = fast, heterozygote = intermediate and homozygote minor allele = slow.","sentence":"Genotype GG is associated with increased formation of acetaminophen glucuronide in healthy individuals as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"formation of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} +{"pmcid":"PMC6451710","article_title":"Impact of CYP3A4*22 on Pazopanib Pharmacokinetics in Cancer Patients","article_path":"articles/PMC6451710.md","variant_annotation_id":1451639920,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"pazopanib","pmid":30367352,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles complemented to plus chromosomal strand.","sentence":"Genotypes GT + TT is not associated with decreased clearance of pazopanib in people with Neoplasms as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104973,"variant_haplotypes":"rs3813929","gene":"HTR2C","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele T is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238783,"variant_haplotypes":"rs4925300","gene":"CDH4","drugs":"ziprasidone","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele A is associated with response to ziprasidone in people with Schizophrenia.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983346,"variant_haplotypes":"rs521093","gene":null,"drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here (T). Response considered to be successful with a 50% reduction at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele T is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2586993","article_title":"Polymorphisms and Clinical Outcome in Recurrent Ovarian Cancer Treated with Cyclophosphamide and Bevacizumab","article_path":"articles/PMC2586993.md","variant_annotation_id":827822867,"variant_haplotypes":"rs4073","gene":"CXCL8","drugs":"bevacizumab, cyclophosphamide","pmid":19010874,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AA + AT are associated with decreased response to bevacizumab and cyclophosphamide in women with Ovarian Neoplasms as compared to genotype TT.","alleles":"AA + AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Ovarian Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4746878","article_title":"A pharmacogenetic pilot study reveals MTHFR, DRD3, and MDR1 polymorphisms as biomarker candidates for slow atorvastatin metabolizers","article_path":"articles/PMC4746878.md","variant_annotation_id":1451352886,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"atorvastatin","pmid":26857559,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes AA + AG are associated with decreased concentrations of atorvastatin in healthy individuals as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114889,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"lopinavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the CT genotype had a significantly increased AUC0-12 of lopinavir compared to the TT genotype in patients treated with lopinavir/ritonavir. Variant referred to in the paper as T512C.","sentence":"Genotype CT is associated with increased exposure to lopinavir in children with HIV Infections as compared to genotype TT.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC9552901","article_title":"NAMPT single-nucleotide polymorphism rs1319501 and visfatin/NAMPT affect nitric oxide\u00a0formation, sFlt-1 and antihypertensive therapy response in preeclampsia","article_path":"articles/PMC9552901.md","variant_annotation_id":1451454162,"variant_haplotypes":"rs1319501","gene":"NAMPT","drugs":"nitric oxide","pmid":33944612,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors state \"The TT genotype for the NAMPT SNP rs1319501 (T>C) was associated with higher nitrite concentrations in pregnant with PE nonresponsive to antihypertensive therapy.\"\" We found no significant effects of genotypes for the NAMPT SNPs on nitrite concentrations in HP or PE patients.\"","sentence":"Genotype TT is associated with increased concentrations of nitric oxide in women with Pre-Eclampsia as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pre-Eclampsia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756047,"variant_haplotypes":"rs7314734","gene":"AQP2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2830598","article_title":"Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and FOLFOX response in colorectal cancer patients","article_path":"articles/PMC2830598.md","variant_annotation_id":769166388,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"fluorouracil, leucovorin, oxaliplatin","pmid":20078613,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with increased response to fluorouracil, leucovorin and oxaliplatin in people with Colorectal Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6773496","article_title":"\u03b22-Adrenergic Receptor Gene Affects the Heart Rate Response of \u03b2-Blockers: Evidence From 3 Clinical Studies","article_path":"articles/PMC6773496.md","variant_annotation_id":1451106720,"variant_haplotypes":"rs1042714","gene":"ADRB2","drugs":"atenolol, metoprolol","pmid":31090079,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CC genotype had a significantly greater decrease in heart rate than patients with the CG or GG genotypes. Note that this association was only significant in white patients.","sentence":"Genotype CC is associated with increased response to atenolol or metoprolol in people with Tachycardia as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tachycardia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3320544","article_title":"Effects of genetic variation in H3K79 methylation regulatory genes on clinical blood pressure and blood pressure response to hydrochlorothiazide","article_path":"articles/PMC3320544.md","variant_annotation_id":981238979,"variant_haplotypes":"rs2269879","gene":"DOT1L","drugs":"hydrochlorothiazide","pmid":22440088,"phenotype_category":"Efficacy","significance":"yes","notes":"In the PEAR cohort, in Whites: 5.5 mmHg greater mean systolic bp response(p = 0.0002 uncorrected) and a 3.5 mmHg greater mean diastolic bp response (p = 0.0016 uncorrected). [stat_test:linear regression]. More than 90% of participants were receiving 25 mg/day HCTZ (the rest received 12.5 mg/day). This did not replicate significantly in a second cohort(GERA) and authors concluded that there could possibly be an association between this SNP and blood pressure response to HCTZ in Caucasians, but that it requires further investigation. Significance for this segment of the study was set at p < 0.01 for a partially corrected p, and in Whites, this level was met when a partial correction for multiple testing was done. But for a compound, corrected p predetermined by the authors to be the significance point for both segments of the study, the significance test failed.","sentence":"Genotypes CT + TT are associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451973700,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"yes","notes":"*2 was significant in Co-dominat, Dominant, and Recessive models.","sentence":"CYP2C19 *2 is associated with increased resistance to clopidogrel in people with Coronary Disease as compared to CYP2C19 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4055378","article_title":"Prediction of Methotrexate Clinical Response in Portuguese Rheumatoid Arthritis Patients: Implication of MTHFR rs1801133 and ATIC rs4673993 Polymorphisms","article_path":"articles/PMC4055378.md","variant_annotation_id":1451258160,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"methotrexate","pmid":24967362,"phenotype_category":"Efficacy","significance":"yes","notes":"\"MTHFR 677TT ... associated with over 4-fold increased risk for nonresponse. \" Alleles complemented to plus chromosomal strand.","sentence":"Genotypes AG + GG is associated with increased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4425056","article_title":"APOE Polymorphisms Contribute to Reduced Atorvastatin Response in Chilean Amerindian Subjects","article_path":"articles/PMC4425056.md","variant_annotation_id":1450973740,"variant_haplotypes":"rs429358","gene":"APOE","drugs":"atorvastatin","pmid":25860945,"phenotype_category":"Efficacy","significance":"yes","notes":"Effect reported for E3/E4 compared to E3/E3 (there were no E4/E4 subjects in cohort).","sentence":"Genotype CT is associated with decreased response to atorvastatin in people with Hypercholesterolemia as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4270923","article_title":"G Protein-Coupled Receptor Kinase 5 Gene Polymorphisms Are Associated with Postoperative Atrial Fibrillation Following Coronary Artery Bypass Graft Surgery in Patients Receiving Beta-Blockers","article_path":"articles/PMC4270923.md","variant_annotation_id":1451843560,"variant_haplotypes":"rs11198893","gene":"GRK5","drugs":"Beta Blocking Agents","pmid":25049040,"phenotype_category":"Efficacy","significance":"yes","notes":"Single-nucleotide polymorphisms in 10 candidate genes were tested for association with atrial fibrillation after coronary artery bypass grafting despite perioperative beta blocker therapy.","sentence":"Allele A is associated with decreased response to Beta Blocking Agents in people with Coronary Artery Disease as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC8185249","article_title":"Genome-wide association study of letrozole plasma concentrations identifies non-exonic variants that may affect CYP2A6 metabolic activity","article_path":"articles/PMC8185249.md","variant_annotation_id":1451927928,"variant_haplotypes":"rs7937","gene":null,"drugs":"letrozole","pmid":34096894,"phenotype_category":null,"significance":"yes","notes":"rs7937 was associated with age- and BMI-adjusted letrozole levels even after adjusting for genotype-predicted CYP2A6 metabolic phenotype (P = 3.86 \u00d7 10\u221210). Median (interquartile range) letrozole concentration in patients with genotypes CC, CT and TT were 107.9 (48.5), 90.5 (46.4) and 73.2 (33.4)ng/ml.","sentence":"Allele C is associated with increased concentrations of letrozole in women with Breast Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC11059713","article_title":"Therapeutic efficacy of generic artemether\u2013lumefantrine in the treatment of uncomplicated malaria in Ghana: assessing anti-malarial efficacy amidst pharmacogenetic variations","article_path":"articles/PMC11059713.md","variant_annotation_id":1452466280,"variant_haplotypes":"CYP3A5*1, CYP3A5*3, CYP3A5*6","gene":"CYP3A5","drugs":"desbutyl lumefantrine","pmid":38685044,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Figure 5 shows the plasma lumefantrine and DBL for CYP3A5 expressor status. There were significant differences in plasma DBL concentrations on day 3 between *1/*1 versus *1/*6 (p\u2009=\u20090.002), *1/*3 versus *1/*6 (p\u2009=\u20090.006) and *1/*7 versus *1/*6 (p\u2009=\u20090.008). There was an observed significance on day 7 desbutyl plasma concentrations among *1/*6 and *1/*3 (p\u2009=\u20090.026) expressors.\"","sentence":"CYP3A5 *1/*3 is associated with decreased concentrations of desbutyl lumefantrine in people with Malaria, Falciparum as compared to CYP3A5 *1/*1 + *1/*6.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Malaria, Falciparum","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*6","comparison_metabolizer_types":null} +{"pmcid":"PMC4682920","article_title":"Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study","article_path":"articles/PMC4682920.md","variant_annotation_id":1447682452,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":26670100,"phenotype_category":"Efficacy","significance":"yes","notes":"The favorable allele C of rs12979860 was significantly associated with SVR to triple therapy including telaprevir or boceprevir in patients with compensated cirrhosis chronically infected with HCV-1. The effect of rs12979860 on triple therapy-induced clearance in treatment-experienced patients is restricted to those who experienced prior PegIFN/RBV relapse.","sentence":"Allele C is associated with increased response to boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2715837","article_title":"G-Protein-Coupled Receptor Kinase 4 Polymorphisms and Blood Pressure Response to Metoprolol Among African Americans: Sex-Specificity and Interactions","article_path":"articles/PMC2715837.md","variant_annotation_id":827864109,"variant_haplotypes":"rs1801058","gene":"GRK4","drugs":"metoprolol","pmid":19119263,"phenotype_category":"Efficacy","significance":"yes","notes":"Note; there were no female TT (V486) homozygotes. Response was measured by time to reach a mean arterial pressure of < or = 107 mm Hg.","sentence":"Genotype CT is associated with decreased response to metoprolol in women with hypertensive nephrosclerosis as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:hypertensive nephrosclerosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679469,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"lansoprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in eradication rate of Helicobacter pylori (H. pylori) were seen between the two genotype groups.This was a meta-analysis and included 9 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received the antibiotics amoxicillin and clarithromycin as part of triple therapy.","sentence":"CYP2C19 *1/*2 + *1/*3 is not associated with response to lansoprazole in people with Helicobacter Infections as compared to CYP2C19 *2/*2 + *2/*3 + *3/*3.","alleles":"*1/*2 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*2 + *2/*3 + *3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC5590735","article_title":"Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin","article_path":"articles/PMC5590735.md","variant_annotation_id":1448994381,"variant_haplotypes":"rs28399433","gene":"CYP2A6","drugs":"efavirenz","pmid":28886044,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Allele also known as CYP2A6*9.","sentence":"Genotype AC is associated with increased concentrations of efavirenz in children with HIV Infections.","alleles":"AC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11730665","article_title":"Comparative efficacy and safety of sitagliptin or gliclazide combined with metformin in treatment-naive patients with type 2 diabetes: A single-center, prospective, randomized, controlled, noninferiority study with genetic polymorphism analysis","article_path":"articles/PMC11730665.md","variant_annotation_id":1453073660,"variant_haplotypes":"rs2909451","gene":"DPP4","drugs":"sitagliptin","pmid":39792745,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Patients with the rs2909451 TT genotype in the study group (treated with sitagliptin) exhibited a median HbA1c improvement of 0.57 (interquartile range [IQR], 0.18\u20130.85), whereas the control group (treated with gliclazide) showed a median improvement of 1.11 (IQR, 0.86\u20131.35; P\u2005<\u2005.001).\"","sentence":"Genotype TT is associated with decreased response to sitagliptin in people with Diabetes Mellitus, Type 2.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC9891445","article_title":"Effects of genetic polymorphisms on methotrexate levels and toxicity in Chinese patients with acute lymphoblastic leukemia","article_path":"articles/PMC9891445.md","variant_annotation_id":1452009000,"variant_haplotypes":"rs2838958","gene":"SLC19A1","drugs":"methotrexate","pmid":36742186,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"at 24 hours.","sentence":"Genotypes AA + AG is associated with increased concentrations of methotrexate in people with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491275,"variant_haplotypes":"rs12522597","gene":"SV2C","drugs":"ziprasidone","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype GG is not associated with response to ziprasidone in people with Schizophrenia as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC11359404","article_title":"Genetic Variation in CYP2D6, UGT1A4, SLC6A2 and SLCO1B1 Alters the Pharmacokinetics and Safety of Mirabegron","article_path":"articles/PMC11359404.md","variant_annotation_id":1452574575,"variant_haplotypes":"rs12708954","gene":"SLC6A2","drugs":"mirabegron","pmid":39204422,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"A lower AUC/DW and a higher CL/F were observed in the SLC6A2 rs12708954 C/C genotype compared to the C/A genotype (puv = 0.015 and puv = 0.016, respectively).\"","sentence":"Genotype CC is associated with increased clearance of mirabegron in healthy individuals as compared to genotype AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC","comparison_metabolizer_types":null} +{"pmcid":"PMC5101708","article_title":"Low heritability in pharmacokinetics of talinolol: a pharmacogenetic twin study on the heritability of the pharmacokinetics of talinolol, a putative probe drug of MDR1 and other membrane transporters","article_path":"articles/PMC5101708.md","variant_annotation_id":1448612434,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"talinolol","pmid":27825374,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was a twin study of monozygotic and dizygotic twins.","sentence":"Allele G is not associated with clearance of talinolol in healthy individuals as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC9809306","article_title":"Exonuclease 1 genetic variant is associated with clinical outcomes of pemetrexed chemotherapy in lung adenocarcinoma","article_path":"articles/PMC9809306.md","variant_annotation_id":1451978280,"variant_haplotypes":"rs1047840","gene":"EXO1","drugs":"pemetrexed","pmid":36606188,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AA + AG is associated with decreased clinical benefit to pemetrexed in people with Lung Neoplasms as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6489578","article_title":"VKORC1 variants as significant predictors of warfarin dose in Emiratis","article_path":"articles/PMC6489578.md","variant_annotation_id":1451589820,"variant_haplotypes":"rs188009042","gene":"VKORC1","drugs":"warfarin","pmid":31114289,"phenotype_category":"Dosage","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with dose of warfarin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC1884285","article_title":"A discordance between cytochrome P450 2D6 genotype and phenotype in patients undergoing methadone maintenance treatment","article_path":"articles/PMC1884285.md","variant_annotation_id":1452873623,"variant_haplotypes":"CYP2D6*1, CYP2D6*4","gene":"CYP2D6","drugs":"dextromethorphan","pmid":12895196,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Multiple regression analysis indicated that CYP2D6*4 alleles and being female were associated with lower CYP2D6 activity as measured by the log (MR); (P < 0.001; r2 = 0.75).; Study only typed for CYP2D6*3, *4, and *6. Mix of genotyping and phenotyping with DEX/DOR MR (0.1 was used as the antimode separating NM and PM). 3 patients were *4/*4 (*3 and *6 were not detected); phenotyped *4/*4 subject had a MR of above 1 (fig1) . 16 out of the 28 phenotyped patients show a MR >0.1 and were classified as PM but did not align with genotype for the smaller subset that had genotype and phenotype data. Patients took methadone and other medications.","sentence":"CYP2D6 *4 is associated with decreased metabolism of dextromethorphan in women as compared to CYP2D6 *1.","alleles":"*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862160,"variant_haplotypes":"rs737866","gene":"COMT","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs2075507,rs7287550, rs5746849, rs740603, rs6269, rs2239393, rs4818, rs4680, rs174699, rs165728). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here.","sentence":"Allele T is associated with decreased dose of morphine in people with Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2992873","article_title":"Genetic Variation of VKORC1 and CYP4F2 Genes Related to Warfarin Maintenance Dose in Patients with Myocardial Infarction","article_path":"articles/PMC2992873.md","variant_annotation_id":1450979020,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":21127708,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This is shown for *2/*2, *2/*3 and *2/*4 vs *3/*3, *3/*4 and *4/*4. Authors define *2 as VKORC1*2 (rs9934438/6484 C\u2009>\u2009T). Alleles complemented.","sentence":"Genotypes AA + AG is associated with decreased dose of warfarin in people with Myocardial Infarction as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Myocardial Infarction","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680778,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype CC is associated with increased concentrations of efavirenz in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3608305","article_title":"Effect of eNOS polymorphisms on salbutamol evoked endothelium dependent vasodilation in South Indian healthy subjects","article_path":"articles/PMC3608305.md","variant_annotation_id":1183682080,"variant_haplotypes":"rs1799983","gene":"NOS3","drugs":"salbutamol","pmid":23543259,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in the change in digital volume pulse parameters - reflection index and stiffness index - before and after salbutamol administration were seen between the two genotype groups. This indicates that this SNP does not affect salbutamol-evoked endothelium-dependent vasodilation.","sentence":"Genotype GG is not associated with response to salbutamol in healthy individuals as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472455,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*5","gene":"CYP2C9","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"yes","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"CYP2C9 *3 + *5 + *2 + *1 is associated with dose of warfarin.","alleles":"*3 + *5 + *2 + *1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4713720","article_title":"Population pharmacokinetics and pharmacogenetics of once daily tacrolimus formulation in stable liver transplant recipients","article_path":"articles/PMC4713720.md","variant_annotation_id":1447679054,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":26521259,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The *1A/*1A + *1A/*3A genotypes were associated with a significantly higher apparent clearance as compared to the *3A/*3A genotype. This was true when analyzing the effect of the genotypes of liver donors, liver recipients, as well as when genotypes were combined.","sentence":"CYP3A5 *1/*1 + *1/*3 are associated with increased clearance of tacrolimus in people with liver transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC3597465","article_title":"COMT Val158Met, BDNF Val66Met, and OPRM1 Asn40Asp and Methamphetamine Dependence Treatment Response: Preliminary Investigation","article_path":"articles/PMC3597465.md","variant_annotation_id":1450813969,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"modafinil","pmid":22217949,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and Treatment Effectiveness Scores following modafinil treatment compared to placebo in Non-Hispanic Caucasian subjects.","sentence":"Genotype GG is not associated with response to modafinil in people with methamphetamine dependence as compared to allele A.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Methamphetamine dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511052,"variant_haplotypes":"rs4646437","gene":"CYP3A4","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of GG, AG and AA did not influence donepezil clearance in a covariate model. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6489578","article_title":"VKORC1 variants as significant predictors of warfarin dose in Emiratis","article_path":"articles/PMC6489578.md","variant_annotation_id":1451589745,"variant_haplotypes":"rs2359612","gene":"VKORC1","drugs":"warfarin","pmid":31114289,"phenotype_category":"Dosage","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes AG + GG are associated with increased dose of warfarin as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6595468","article_title":"Relevance of CYP2B6 and CYP2D6 genotypes to methadone pharmacokinetics and response in the OPAL study","article_path":"articles/PMC6595468.md","variant_annotation_id":1450374180,"variant_haplotypes":"CYP2D6 poor and ultrarapid metabolizers","gene":"CYP2D6","drugs":"methadone","pmid":30907440,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was no significant association between CYP2D6 phenotype and cessation of opioid use.","sentence":"CYP2D6 poor metabolizer and ultrarapid metabolizer are not associated with response to methadone in people with Opioid-Related Disorders as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer and ultrarapid metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4694426","article_title":"Relationships of related genetic polymorphisms and individualized medication of tacrolimus in patients with renal transplantation","article_path":"articles/PMC4694426.md","variant_annotation_id":1447946656,"variant_haplotypes":"CYP3A4*1, CYP3A4*18","gene":"CYP3A4","drugs":"tacrolimus","pmid":26770526,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP3A4*18B was negatively correlated with tacrolimus dose-adjusted trough concentrations (C/D). However, in the best multiple regression model, this allele no longer retained statistical significance. Factors that retained statistical significance were CYP3A5*3, hematocrit and albumin. PharmVar has consolidated CYP3A4*18B under CYP3A4*18 .001","sentence":"CYP3A4 *18 is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1.","alleles":"*18","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5604731","article_title":"Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients","article_path":"articles/PMC5604731.md","variant_annotation_id":1450821553,"variant_haplotypes":"rs11280056","gene":"TYMS","drugs":"methotrexate","pmid":22450926,"phenotype_category":"Efficacy","significance":"no","notes":"Variant was originally mapped to TTAAAG allele of rs151264360, which has now been merged into rs11280056. This annotation replaces VA 827863352.","sentence":"Allele del is not associated with response to methotrexate in people with Arthritis, Rheumatoid.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407680,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"butorphanol","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Study-wide significance was set to p<0.017.","sentence":"Allele G is not associated with response to butorphanol in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC10858860","article_title":"The effects of OPRM1 118A>G on methadone response in pain management in advanced cancer at end of life","article_path":"articles/PMC10858860.md","variant_annotation_id":1452386200,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"methadone","pmid":38341456,"phenotype_category":"Dosage","significance":"no","notes":"\"We did not find an association with methadone dose or pain scores for our study\"","sentence":"Genotypes AA + AG is not associated with increased dose of methadone in people with Neoplasms and Pain as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms, Other:Pain","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3433845","article_title":"Interplay of Genetic Risk Factors (CHRNA5-CHRNA3-CHRNB4) and Cessation Treatments in Smoking Cessation Success","article_path":"articles/PMC3433845.md","variant_annotation_id":827921971,"variant_haplotypes":"rs16969968","gene":"CHRNA3, CHRNA5","drugs":"Drugs used in nicotine dependence","pmid":22648373,"phenotype_category":"Other","significance":"yes","notes":"in haplotype analysis; individuals with haplotype 3 (rs16969968 allele A - rs680244 allele C) were more likely to respond to active treatment/ had a lower risk of relapse (remain abstinent from smoking cigarettes) than those with haplotype 3 that were treated with placebo. The odds of abstinence from cigarette smoking were not significantly different in individuals with haplotype 1 (rs16969968 allele G - rs680244 allele C) that underwent active treatment or placebo.","sentence":"Allele A is associated with increased response to Drugs used in nicotine dependence in people with Tobacco Use Disorder.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703603,"variant_haplotypes":"rs1050152","gene":"SLC22A4","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the TT genotype had a decreased likelihood of achieving major molecular response (MMR) within 12 months, as compared to those with the CC or CT genotype. MMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; MMR was a ratio <= 0.1%.","sentence":"Genotype TT is associated with decreased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5901893","article_title":"Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC5901893.md","variant_annotation_id":1450930521,"variant_haplotypes":"rs7606603","gene":"XIRP2","drugs":"atenolol","pmid":29650764,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of atenolol in people with Hypertension as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699014,"variant_haplotypes":"rs1537416","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550220,"variant_haplotypes":"rs362719","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele A is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11850035","article_title":"Analgesic therapy failure in a COMT HPS/HPS diplotype carrier heterozygous for the CYP2D6 *4 allele with fibromyalgia\u2014a case report","article_path":"articles/PMC11850035.md","variant_annotation_id":1452865989,"variant_haplotypes":"CYP2D6*1, CYP2D6*4","gene":"CYP2D6","drugs":"acetaminophen, duloxetine, ibuprofen, oxycodone, pregabalin","pmid":39995492,"phenotype_category":"Efficacy","significance":"no","notes":"\"40-year-old female patient was diagnosed with chronic lumbalgia and fibromyalgia\" \" insufficient pain relief\" \"COMT HPS/HPS diplotype carrier implicating lower COMT activity and higher pain sensitivity\" Genotypes from table 2: rs6269 AA, rs4633 CC, rs4818 CC, rs4680 GG and CYP2D6 *1/*4","sentence":"CYP2D6 *1/*4 (assigned as intermediate metabolizer phenotype) is associated with decreased clinical benefit to acetaminophen, duloxetine, ibuprofen, oxycodone and pregabalin in women with Fibromyalgia and Low Back Pain.","alleles":"*1/*4","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Other:Fibromyalgia, Other:Low Back Pain","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC9328121","article_title":"Analysis of Genetic and Clinical Factors Associated with Buprenorphine Response","article_path":"articles/PMC9328121.md","variant_annotation_id":1451647569,"variant_haplotypes":"rs6973474","gene":null,"drugs":"buprenorphine","pmid":34488071,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors note that this association is nominally significant.","sentence":"Allele T is associated with increased response to buprenorphine in people with Opioid-Related Disorders as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":982046699,"variant_haplotypes":"rs1799808","gene":"PROC","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Patients with the CC genotype require significantly higher daily doses of phenprocoumon as compared to patients with the CT or TT genotype. While it seems that there may be a gene dose effect (CC>CT>TT), the paper did not specify whether or not this is the case. Daily dose is also negatively correlated with age. This study published an algorithm for daily dose that includes height, although height was not significant in univariate analysis. This SNP is not associated with differences in phenprocoumon concentration.","sentence":"Genotype CC is associated with increased dose of phenprocoumon as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3603284","article_title":"Discordant Associations between SLCO1B1 521T\u2192C and Plasma Levels of Ritonavir-boosted Protease Inhibitors in AIDS Clinical Trials Group Study A5146","article_path":"articles/PMC3603284.md","variant_annotation_id":1451115303,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"lopinavir","pmid":23503447,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Association was significant in white patients only. Only 1/31 black patients and 1/17 Hispanic patients carried the C allele, so statistical analysis could not be carried out. However, the authors note that these patients had amongst the highest trough concentrations of lopinavir.","sentence":"Allele C is associated with increased trough concentration of lopinavir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2599947","article_title":"ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence","article_path":"articles/PMC2599947.md","variant_annotation_id":1450811579,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"methadone","pmid":18424454,"phenotype_category":"Dosage","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotype AA is associated with increased dose of methadone in people with Heroin Dependence as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC9537548","article_title":"A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients","article_path":"articles/PMC9537548.md","variant_annotation_id":1451919840,"variant_haplotypes":"rs368245720","gene":null,"drugs":"6-hydroxy s-warfarin","pmid":36210801,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"measured as increased S-6OH-warfarin and using a genome wide significance threshold of < 3.846 \u00d7 10\u22129. Effect direction from supplementary table S9. There were five SNPs in the same intergenic region on chromosome 10 with same p value (rs368245720, rs541817388, 10:107692518:AC:A, rs112552343, rs372488899).","sentence":"Allele A is associated with increased concentrations of 6-hydroxy s-warfarin in people with Atrial Fibrillation, venous thromboembolism or Heart Valve Diseases as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation, Other:Venous thromboembolism, Other:Heart Valve Diseases","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5306492","article_title":"Polymorphisms in ABCB1 and CYP19A1 genes affect anastrozole plasma concentrations and clinical outcomes in postmenopausal breast cancer patients","article_path":"articles/PMC5306492.md","variant_annotation_id":1448614987,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"anastrozole","pmid":27747906,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles have been complemented to the positive strand.","sentence":"Genotype AA is associated with increased concentrations of anastrozole in women with Breast Neoplasms as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6647927","article_title":"Influence of (ATP)-Binding Cassette Transporter Subfamily B Member 1 (ABCB1) Gene Polymorphism on the Efficacy of Remifentanil","article_path":"articles/PMC6647927.md","variant_annotation_id":1451118680,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"remifentanil","pmid":31346154,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the GG genotype had significantly increased consumption of remifentanil during surgery than patients with the AA genotype.","sentence":"Genotype GG is associated with increased dose of remifentanil as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC10381361","article_title":"Pilot Study: Personalized Medicine in Endoscopy, Can Pharmacogenomics Predict Response to Conscious Sedation?","article_path":"articles/PMC10381361.md","variant_annotation_id":1452197225,"variant_haplotypes":"UGT1A1 poor metabolizer","gene":"UGT1A1","drugs":"fentanyl, meperidine, midazolam","pmid":37511720,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Patients were divided into two groups based on sedation requirements during endoscopy (high vs. normal sedation). The high sedation requirement group was defined by a sedation requirement of midazolam >10 mg, fentanyl >100 mcg, meperidine >100 mg, or an aborted procedure due to failed moderate sedation and/or the transition to propofol sedation to complete the procedure. The normal sedation requirement group was defined as the complete absence of the above conditions that define the high sedation requirement group.\" \"Patients with reduced CYP2C19 metabolism (poor + intermediate metabolizers) (OR = 0.38, 95% CI: 0.16\u20130.91, p = 0.03), poor CYP3A5 metabolism (OR = 0.25, 95% CI: 0.095\u20130.65, p = 0.0046), and poor UGT1A1 (OR = 2.76, 95% CI: 1.07\u20137.13, p = 0.08) had higher odds of requiring normal sedation compared to those with CYP2C19 increased metabolism, CYP3A5 intermediate metabolism, and UGT1A1 intermediate metabolism\"","sentence":"UGT1A1 poor metabolizer is associated with decreased dose of fentanyl, meperidine or midazolam in people with sedation as compared to UGT1A1 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:sedation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3872414","article_title":"Polymorphisms of MTHFR Associated with Higher Relapse/Death Ratio and Delayed Weekly MTX Administration in Pediatric Lymphoid Malignancies","article_path":"articles/PMC3872414.md","variant_annotation_id":1451506620,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"methotrexate","pmid":24386571,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in relapse-free survival between genotype groups.","sentence":"Allele C is not associated with response to methotrexate in children with Lymphoma, Non-Hodgkin or Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Non-Hodgkin Lymphoma, Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3667657","article_title":"Plasma Letrozole Concentrations in Postmenopausal Women With Breast Cancer Are Associated With CYP2A6 Genetic Variants, Body Mass Index, and Age","article_path":"articles/PMC3667657.md","variant_annotation_id":827864335,"variant_haplotypes":"CYP2A6*1, CYP2A6*26","gene":"CYP2A6","drugs":"letrozole","pmid":21975350,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"CYP2A6*1/*26 is associated with normal metabolism of letrozole (compared to slow metabolism of nicotine).","sentence":"CYP2A6 *1/*26 is associated with metabolism of letrozole in women with Breast Neoplasms.","alleles":"*1/*26","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5323433","article_title":"Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer","article_path":"articles/PMC5323433.md","variant_annotation_id":1448497497,"variant_haplotypes":"rs162555","gene":"CYP1B1","drugs":"exemestane","pmid":27549341,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in exemestane concentrations were seen between the three genotypes. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are not associated with concentrations of exemestane in women with Breast Neoplasms as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375663,"variant_haplotypes":"rs4659982","gene":"GREM2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele C is associated with increased response to allopurinol.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11730665","article_title":"Comparative efficacy and safety of sitagliptin or gliclazide combined with metformin in treatment-naive patients with type 2 diabetes: A single-center, prospective, randomized, controlled, noninferiority study with genetic polymorphism analysis","article_path":"articles/PMC11730665.md","variant_annotation_id":1453076020,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"sitagliptin","pmid":39792745,"phenotype_category":"Efficacy","significance":"yes","notes":"\"CYP2C9 gene polymorphisms also significantly influenced treatment efficacy. Patients with the rs1799853 TT genotype in the study group had a median HbA1c improvement of 0.70 (IQR, 0.69\u20130.72), while the control group showed 1.07 (IQR, 0.82\u20131.42; P\u2005<\u2005.001).\"","sentence":"Genotype TT is associated with decreased response to sitagliptin in people with Diabetes Mellitus, Type 2.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5519037","article_title":"Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer","article_path":"articles/PMC5519037.md","variant_annotation_id":1448636661,"variant_haplotypes":"rs11572080","gene":"CYP2C8","drugs":"everolimus","pmid":28727815,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note: alleles have been complemented to the positive chromosomal strand.","sentence":"Genotypes CT + TT are not associated with concentrations of everolimus in women with Breast Neoplasms as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4350512","article_title":"Genetic markers associated with abstinence length in alcohol-dependent subjects treated with acamprosate","article_path":"articles/PMC4350512.md","variant_annotation_id":1184988646,"variant_haplotypes":"rs17035723","gene":"GLRB","drugs":"acamprosate","pmid":25290263,"phenotype_category":"Efficacy","significance":"no","notes":"Tag SNPs (518 total) were selected within genes associated with alcoholism as well as genes encoding enzymes involved in glycine metabolism, glycine transporters, subunits of glycine receptors, NMDA receptors, genes involved in glutamate reuptake, synthesis or degradation and genes with reported associations with acamprosate treatment outcomes in human or animal studies. The length of time to first alcohol use \u201csurvival analysis method\u201d was used to examine associations between clinical variables and genetic markers with efficacy of acomprasate (its ability to length the duration of abstinence from alcohol). The analyses were replicated in a subset of 110 participants from PREDICT, a double-blind randomized controlled trial that compared treatment outcomes including length of abstinence among alcohol- dependent subjects of German descent recruited from inpatient facilities and treated with acamprosate, naltrexone or placebo for 3 months. rs17035723 A allele was nominally associated with shorter abstinence after Bonferroni correction for the number of SNPs included in the analyses in the male only cohort (N=148) of the discovery sample (P = 9.8 \u00d7 10 - 5, corrected P = 0.0507).","sentence":"Allele T is not associated with response to acamprosate in people with Alcoholism as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5932771","article_title":"Optimal predictor for 6-mercaptopurine intolerance in Chinese children with acute lymphoblastic leukemia: NUDT15, TPMT, or ITPA genetic variants?","article_path":"articles/PMC5932771.md","variant_annotation_id":1449750266,"variant_haplotypes":"rs116855232","gene":"NUDT15","drugs":"mercaptopurine","pmid":29720126,"phenotype_category":"Dosage, Toxicity","significance":"no","notes":"as measured by 6-MP dose intensity, which is a measure dose adjustment due to toxicity calculated by the ratio of the prescribed 6-MP dose over the protocol dose of 50 mg/m2/d. TT had lowest intensity, heterozygotes had intermediate intensity and CC highest intensity.","sentence":"Allele T is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438543,"variant_haplotypes":"rs2297595","gene":"DPYD","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 3.3E-3.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677275,"variant_haplotypes":"rs10046","gene":"CYP19A1","drugs":"hdl cholesterol","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole and lipid lowering agents (LLA), such as statins. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with decreases in HDL-cholesterol of 6.2 mg/dL (SE 1.6).","sentence":"Allele G is associated with decreased concentrations of hdl cholesterol in women with Breast Neoplasms and Menopause as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930637,"variant_haplotypes":"rs680244","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"The T allele was initially associated with an increased likelihood of being a smoker but this lost significance following correction for multiple testing.","sentence":"Allele T is not associated with exposure to nicotine in men as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC8890732","article_title":"Effects of cytochrome P450 2B6 and constitutive androstane receptor genetic variation on Efavirenz plasma concentrations among HIV patients in Kenya","article_path":"articles/PMC8890732.md","variant_annotation_id":1451707346,"variant_haplotypes":"rs8192719","gene":"CYP2B6","drugs":"efavirenz","pmid":35235559,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Described as 21563C>T","sentence":"Allele T is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699046,"variant_haplotypes":"rs10776845","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4690185","article_title":"First-line eradication for Helicobacter pylori-positive gastritis by esomeprazole-based triple therapy is influenced by CYP2C19 genotype","article_path":"articles/PMC4690185.md","variant_annotation_id":1448532221,"variant_haplotypes":"CYP2C19 normal metabolizer genotype","gene":"CYP2C19","drugs":"amoxicillin, clarithromycin, esomeprazole","pmid":26730167,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients tested positive for h. pylori and were treated with 400 mg/d EPZ, 1500 mg/d AMPC, and 400 mg/d CAM for 7 days. All drugs were given twice per day.","sentence":"CYP2C19 normal metabolizer is associated with decreased response to amoxicillin, clarithromycin and esomeprazole in people with Gastritis as compared to CYP2C19 intermediate metabolizer and poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Gastritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer and poor metabolizer"} +{"pmcid":"PMC11809887","article_title":"PCK1 and SLC22A2 gene variants associated with response to metformin treatment in type 2 diabetes","article_path":"articles/PMC11809887.md","variant_annotation_id":1452849180,"variant_haplotypes":"rs4810083","gene":"PCK1","drugs":"metformin","pmid":39928707,"phenotype_category":"Efficacy","significance":"yes","notes":"\"NRs were predominantly homozygous for the alternative allele (55.0%). In comparison, in responders, only 18.0% were homozygous for the alternative allele. Thus, individuals that are homozygous carriers of the PCK1-rs4810083 alternative allele have 5.6 times more risk of being NRs to metformin than the 2 other genotype\u2019s carriers (recessive model: OR =\u2009 5.56, IC 95% [1.86\u201316.63]).\"","sentence":"Genotypes CT + TT is associated with increased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3575609","article_title":"Polymorphism of \u03bc-Opioid Receptor Gene (OPRM1:c.118A>G) Might Not Protect against or Enhance Morphine-Induced Nausea or Vomiting","article_path":"articles/PMC3575609.md","variant_annotation_id":1449188786,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"morphine","pmid":23431434,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of morphine in women with Pain, Postoperative as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC8672325","article_title":"Adverse Cardiovascular Outcomes and Antihypertensive Treatment: A Genome-Wide Interaction Meta-Analysis in the International Consortium for Antihypertensive Pharmacogenomics Studies","article_path":"articles/PMC8672325.md","variant_annotation_id":1451506720,"variant_haplotypes":"rs139945292","gene":null,"drugs":"Beta Blocking Agents","pmid":34231218,"phenotype_category":"Efficacy","significance":"yes","notes":"The T-allele of this variant was associated with less BP reduction (systolic BP response P = 6 \u00d7 10\u22124, Beta = 3.09, diastolic BP response P = 5 \u00d7 10\u22123, Beta = 1.53) after treatment with \u03b2-blockers.","sentence":"Allele T is associated with decreased response to Beta Blocking Agents in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5619051","article_title":"Influence of common and rare genetic variation on warfarin dose among African\u2013Americans and European\u2013Americans using the exome array","article_path":"articles/PMC5619051.md","variant_annotation_id":1448636895,"variant_haplotypes":"rs12772169","gene":null,"drugs":"warfarin","pmid":28686080,"phenotype_category":"Dosage","significance":"yes","notes":"in patients initiating warfarin treatment with a target international normalized ratio (INR) of 2 to 3. Direction of the relationship of allele to dose is not explicitly stated. Table 4 lists minor allele as A, dbSNP lists as C/T with T as minor allele.","sentence":"Allele T is associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032504,"variant_haplotypes":"rs4877900","gene":"NTRK2","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was not statistically significant after permutation analysis based on 40,000 replicates, and not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction). Note; this SNP was in LD with rs4358872, rs1948308, and rs2378676 (r^2>0.7).","sentence":"Genotype CC is associated with decreased dose of methadone in people with Heroin Dependence as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2792638","article_title":"Angiotensin-converting enzyme gene polymorphism predicts the time-course of blood pressure response to angiotensin converting enzyme inhibition in the AASK trial","article_path":"articles/PMC2792638.md","variant_annotation_id":982048083,"variant_haplotypes":"rs4363","gene":"ACE","drugs":"ramipril","pmid":17885551,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was also reported as ACE G20037A. No association was seen between this SNP and time to target blood pressure.","sentence":"Genotypes AA + AG are not associated with increased response to ramipril in people with Hypertension as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981728486,"variant_haplotypes":"rs4149601","gene":"NEDD4L","drugs":"hydrochlorothiazide","pmid":23353631,"phenotype_category":"Efficacy","significance":"yes","notes":"AG and GG patients had significantly greater reduction in Systolic and in Diastolic Blood pressure than those with AA genotype. As this association was tested as a replication attempt, p was not adjusted for multiple testing as it was for the other SNPs in this study.; A significant association was also seen between the haplotype rs4149601G/rs292449C and greater response to hydrachlorothiazide in Whites.","sentence":"Genotypes AG + GG are associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4087845","article_title":"Pharmacodynamic and kinetic effect of rabeprazole on serum gastrin level in relation to CYP2C19 polymorphism in Chinese Hans","article_path":"articles/PMC4087845.md","variant_annotation_id":1183622300,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"rabeprazole","pmid":16937451,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in area under the concentration-time curve (AUC) for rabeprazole were seen between the two genotype groups. Subjects were given rabeprazole for 8 days; AUC was measured on day 1 and day 8 after rabeprazole administration. Please note that the *2 and *3 alleles were referred to by their previous designations (CYP2C19*m1 and *m2, respectively).","sentence":"CYP2C19 *1/*2 + *1/*3 is not associated with metabolism of rabeprazole in healthy individuals as compared to CYP2C19 *2/*2.","alleles":"*1/*2 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC4737107","article_title":"Thiopurine dose intensity and treatment outcome in childhood lymphoblastic leukaemia: the influence of thiopurine methyltransferase pharmacogenetics","article_path":"articles/PMC4737107.md","variant_annotation_id":1356539101,"variant_haplotypes":"TPMT*1, TPMT*3C","gene":"TPMT","drugs":"mercaptopurine, thioguanine","pmid":25441457,"phenotype_category":"Dosage","significance":"yes","notes":"As compared to those with the wild-type genotype (*1/*1), those patients with the *1/*3C genotype had a lower average dose (72.5% vs 78.0%, where dose given as the % of standard protocol dose).","sentence":"TPMT *1/*3C is associated with decreased dose of mercaptopurine or thioguanine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT *1/*1.","alleles":"*1/*3C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5903579","article_title":"Genome-wide and candidate gene approaches of clopidogrel efficacy using pharmacodynamic and clinical endpoints - Rationale and design of the International Clopidogrel Pharmacogenomics Consortium (ICPC)","article_path":"articles/PMC5903579.md","variant_annotation_id":1449296254,"variant_haplotypes":"CYP2C19*2","gene":"CYP2C19","drugs":"clopidogrel","pmid":29653637,"phenotype_category":"Efficacy","significance":"yes","notes":"Validation of ICPC central database. CYP2C19*2 was associated with increased on-treatment platelet reactivity.","sentence":"CYP2C19 *2 is associated with decreased response to clopidogrel.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC9328121","article_title":"Analysis of Genetic and Clinical Factors Associated with Buprenorphine Response","article_path":"articles/PMC9328121.md","variant_annotation_id":1451647580,"variant_haplotypes":"rs62368105","gene":null,"drugs":"buprenorphine","pmid":34488071,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors note that this association is nominally significant.","sentence":"Allele G is associated with increased response to buprenorphine in people with Opioid-Related Disorders as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC7718230","article_title":"Association of clozapine-related metabolic disturbances with CYP3A4 expression in patients with schizophrenia","article_path":"articles/PMC7718230.md","variant_annotation_id":1451684740,"variant_haplotypes":"CYP1A2 low activity","gene":"CYP1A2","drugs":"n-desmethylclozapine","pmid":33277605,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"comapring n-desemethylclozapine in patients\u2019 peripheral leukocytes with low and normal/high CYP1A2 expression where all had normal/high CYP3A4 expression. AUthors describe \"further contribution of CYP1A2 to norclozapine production was also demonstrated\". Authors did genotype for some CYP1A2 and CYP3A4/5 alleles but these \"alleles did not explain the inter-individual differences in CYP3A4 mRNA levels\" and \"hepatic CYP1A2 and CYP3A4 activities were therefore estimated from mRNA levels in patients\u2019 leukocytes, categorizing the patients into low, normal and high expresser groups\"","sentence":"CYP1A2 low activity is associated with decreased concentrations of n-desmethylclozapine in people with Schizophrenia as compared to CYP1A2 high activity.","alleles":null,"specialty_population":null,"metabolizer_types":"low activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"high activity"} +{"pmcid":"PMC3049596","article_title":"Phase II study of S-1 combined with oxaliplatin as therapy for patients with metastatic biliary tract cancer: influence of the CYP2A6 polymorphism on pharmacokinetics and clinical activity","article_path":"articles/PMC3049596.md","variant_annotation_id":827698683,"variant_haplotypes":"CYP2A6*1, CYP2A6*4, CYP2A6*7, CYP2A6*9, CYP2A6*10","gene":"CYP2A6","drugs":"tegafur","pmid":21326246,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"*1/*1 carriers had a metabolic ratio of fluorouracil/tegafur around 1.85-fold higher compared to carriers of *4, *7, *9 and *10 alleles.","sentence":"CYP2A6 *1/*1 is associated with increased metabolism of tegafur in people with biliary tract neoplasms as compared to CYP2A6 *1/*10 + *1/*4 + *1/*7 + *1/*9 + *4/*9 + *7/*10 + *7/*9 + *9/*9.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Biliary tract neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*10 + *1/*4 + *1/*7 + *1/*9 + *4/*9 + *7/*10 + *7/*9 + *9/*9","comparison_metabolizer_types":null} +{"pmcid":"PMC7377539","article_title":"Impact of Polymorphism of CYP2D6 on Equilibrium Concentration of Duloxetine in Patients Suffering from Major Depressive Disorder","article_path":"articles/PMC7377539.md","variant_annotation_id":1451664620,"variant_haplotypes":"rs3892097","gene":"CYP2D6","drugs":"duloxetine","pmid":32733111,"phenotype_category":"Efficacy","significance":"yes","notes":"CC had greater decreases in score on HAMD after 8 weeks. Alleles complemented. No TT were observed.","sentence":"Genotype CC is associated with increased clinical benefit to duloxetine in men with Alcoholism and Depressive Disorder as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Alcohol abuse, Other:Depressive Disorder","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5600689","article_title":"Impact of Single Nucleotide Polymorphisms on Plasma Concentrations of Efavirenz and Lopinavir/ritonavir in Chinese Children Infected with the Human Immunodeficiency Virus","article_path":"articles/PMC5600689.md","variant_annotation_id":1448821812,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"lopinavir","pmid":28718515,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes CC + CT are not associated with concentrations of lopinavir in children with HIV Infections as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4746878","article_title":"A pharmacogenetic pilot study reveals MTHFR, DRD3, and MDR1 polymorphisms as biomarker candidates for slow atorvastatin metabolizers","article_path":"articles/PMC4746878.md","variant_annotation_id":1451352900,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"atorvastatin","pmid":26857559,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes AA + AG are associated with increased concentrations of atorvastatin in healthy individuals as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5138058","article_title":"Role of rs3846662 and HMGCR alternative splicing in statin efficacy and baseline lipid levels in familial hypercholesterolemia","article_path":"articles/PMC5138058.md","variant_annotation_id":1446907782,"variant_haplotypes":"rs3846662","gene":"HMGCR","drugs":"hmg coa reductase inhibitors","pmid":26466344,"phenotype_category":"Efficacy","significance":"yes","notes":"The percentage reduction in LDL-cholesterol upon statin treatment was significantly decreased in women with the AA genotype","sentence":"Genotype AA is associated with decreased response to hmg coa reductase inhibitors in women with familial hypercholesterolemia as compared to allele G.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Familial hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2743299","article_title":"GENE AND GENE BY SEX ASSOCIATIONS WITH INITIAL SENSITIVITY TO NICOTINE IN NONSMOKERS","article_path":"articles/PMC2743299.md","variant_annotation_id":1450812289,"variant_haplotypes":"rs6277","gene":"DRD2","drugs":"nicotine","pmid":18690117,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. No significant association between this variant and nicotine reward, perception, mood or reinforcement or physiological responses to nicotine.","sentence":"Allele A is not associated with response to nicotine in women as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501834,"variant_haplotypes":"rs3740066","gene":"ABCC2","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as measured by a lower carbamazepine-10-11 epoxide:carbamazepine metabolite ratio. This association was only significant in male patients.","sentence":"Genotypes CT + TT are associated with decreased metabolism of carbamazepine in men with Epilepsy as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5432414","article_title":"ABC Transporter Polymorphisms are Associated with Irinotecan Pharmacokinetics and Neutropenia","article_path":"articles/PMC5432414.md","variant_annotation_id":1448432529,"variant_haplotypes":"rs12720066","gene":"ABCB1","drugs":"SN-38","pmid":27845419,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"AUC of SN-38 was adjusted for irinotecan dose.","sentence":"Genotypes AC + CC are associated with decreased exposure to SN-38 in people with Colorectal Neoplasms as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995822,"variant_haplotypes":"rs17577","gene":"MMP9","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":"Listed as rs2274756 in paper.","sentence":"Allele A is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511076,"variant_haplotypes":"rs1523130","gene":"NR1I2","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of CC, CT and TT did not influence donepezil clearance in a covariate model.","sentence":"Genotype CC is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3584248","article_title":"CYP2D6 genotypes, endoxifen levels, and disease recurrence in 224 Filipino and Vietnamese women receiving adjuvant tamoxifen for operable breast cancer","article_path":"articles/PMC3584248.md","variant_annotation_id":1444930474,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*5, CYP2D6*10, CYP2D6*41","gene":"CYP2D6","drugs":"4-hydroxytamoxifen, N-desmethyltamoxifen, tamoxifen","pmid":23476897,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No information on menopausal status or if tamoxifen only treatment. No co-treatment with CYP2D6 inhibitors CYP2D6 alleles *2, *3, *4, *5, *6, *10, and *41 are genotyped with predeveloped TaqMan Genotyping Assays. Genotypes were categorized as normal (fully functional CYP2D6 alleles: *1 and *2 -*1/*1, *1/*2, *2/*2), intermediate (alleles associated with reduced enzyme activity: heterozygous for *10 and *41-*1/*10, *2/*10, *1/*41), and slow (homozygous for *10, *41 variants and one or more non-functional null alleles: *3-*6-*10/*10, *10/*41, *1/*5, *2/*5, *5/*10). [pre-menopausal][post-menopausal] [adjuvant] [DNA source: leukocytes] [HWE: Vietnamese *1, 2, 4, 5, 10, 41 yes Filipino *1 and *2 no rest yes]","sentence":"CYP2D6 *10/*10 + *10/*41 + *1/*5 + *2/*5 + *5/*10 are not associated with decreased concentrations of 4-hydroxytamoxifen, n-desmethyltamoxifen and tamoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*1 + *1/*2 + *2/*2.","alleles":"*10/*10 + *10/*41 + *1/*5 + *2/*5 + *5/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2 + *2/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC6033076","article_title":"Comprehensive Pharmacogenomic Study Reveals an Important Role of UGT1A3 in Montelukast Pharmacokinetics","article_path":"articles/PMC6033076.md","variant_annotation_id":1449576511,"variant_haplotypes":"UGT1A3*1, UGT1A3*2","gene":"UGT1A3","drugs":"montelukast","pmid":28940478,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The UGT1A3*2 is associated with reduced area under the plasma concentration-time curve (AUC) of montelukast (17% reduction per copy of each allele, P=2.99 \u00d7 10-10). This allele is strongly associated with increased UGT1A3 expression in vitro.","sentence":"UGT1A3 *2 is associated with decreased concentrations of montelukast in healthy individuals as compared to UGT1A3 *1/*1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934476,"variant_haplotypes":"rs398123223","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the G allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Leu300Pro in the paper.","sentence":"Allele G is associated with increased response to migalastat in people with Fabry Disease.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359640,"variant_haplotypes":"rs129915","gene":"DBH","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of methadone in people with Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC9841299","article_title":"Impact of NFIB and CYP1A variants on clozapine serum concentration\u2014A retrospective naturalistic cohort study on 526 patients with known smoking habits","article_path":"articles/PMC9841299.md","variant_annotation_id":1451893986,"variant_haplotypes":"rs28379954","gene":"NFIB","drugs":"clozapine","pmid":36152308,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"significance is only given for combination of both CYP1A rs2472297 C>T and NFIB rs28379954 T>C genotypes","sentence":"Genotype CT is associated with decreased dose-adjusted trough concentrations of clozapine as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472404,"variant_haplotypes":"rs2189784","gene":"CYP4F2","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"no","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"Allele A is not associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3180021","article_title":"IL28B polymorphisms associated with therapy response in Chilean chronic hepatitis C patients","article_path":"articles/PMC3180021.md","variant_annotation_id":1444705817,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2a, ribavirin","pmid":21987611,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Genotype TT is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to genotypes GT + TT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2364770","article_title":"UGT1A1 gene variations and irinotecan treatment in patients with metastatic colorectal cancer","article_path":"articles/PMC2364770.md","variant_annotation_id":1451206460,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan","pmid":15280927,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical response - when a patient had either a complete or a partial remission.","sentence":"UGT1A1 *1/*28 + *28/*28 are not associated with response to irinotecan in people with Colorectal Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28 + *28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC7039663","article_title":"Pharmacogenetics predictors of methylphenidate efficacy in childhood ADHD","article_path":"articles/PMC7039663.md","variant_annotation_id":1450180302,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"methylphenidate","pmid":29230023,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele and G allele are reported in the paper as the Val allele and Met allele respectively.","sentence":"Genotype GG is associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5604731","article_title":"Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients","article_path":"articles/PMC5604731.md","variant_annotation_id":827863348,"variant_haplotypes":"rs45445694","gene":"C18orf56, TYMS","drugs":"methotrexate","pmid":22450926,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype (CCGCGCCACTTCGCCTGCCTCCGTCCCG)3 is not associated with response to methotrexate in people with Arthritis, Rheumatoid.","alleles":"(CCGCGCCACTTCGCCTGCCTCCGTCCCG)3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407800,"variant_haplotypes":"rs702764","gene":"OPRK1","drugs":"butorphanol","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Nominally significant difference in heat pain threshold between genotype groups, but this association was not seen in other pain modalities. Study-wide significance was set to p<0.017.","sentence":"Genotype CC is associated with increased response to butorphanol in healthy individuals as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4115247","article_title":"GENETIC VARIATION IN CYP4A11 AND BLOOD PRESSURE RESPONSE TO MINERALOCORTICOID RECEPTOR ANTAGONISM OR ENAC INHIBITION: AN EXPLORATORY PILOT STUDY IN AFRICAN AMERICANS","article_path":"articles/PMC4115247.md","variant_annotation_id":1450821075,"variant_haplotypes":"rs1126742","gene":"CYP4A11","drugs":"amiloride, spironolactone","pmid":25064769,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. An expected increase in aldosterone levels in response to treatment was not seen in patients with the GG genotype. This variant was in complete disequilibrium with rs3890011.","sentence":"Genotype GG is associated with decreased response to amiloride or spironolactone in people with Hypertension as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703560,"variant_haplotypes":"rs1050152","gene":"SLC22A4","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype was not significantly with associated with likelihood of achieving major cytogenetic response (MCgR) within 12 months. MCgR was defined as achieving either a complete or partial cytogenetic response (CCgR; PCgR). Cytogenetic response was based on bone marrow assessment, where CCgR was 0% Ph+ cells, and PCgR was >0 to 35% Ph+ cells.","sentence":"Genotype TT is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271224,"variant_haplotypes":"CYP3A4 poor metabolizers and intermediate metabolizers","gene":"CYP3A4","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"no","notes":"Response defined by changes in the rate of dropout from treatment between metabolizer phenotypes. Study genotyped for the CYP3A4 *1, *13, *15A and *22 alleles and then assigned metabolizer phenotypes.","sentence":"CYP3A4 intermediate metabolizer and poor metabolizer is not associated with response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to CYP3A4 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767276,"variant_haplotypes":"rs3002142","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele C is not associated with trough concentration of vancomycin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4613221","article_title":"SLCO1B1 c.388A>G Polymorphism Is Associated with HDL-C Levels in Response to Atorvastatin in Chilean Individuals","article_path":"articles/PMC4613221.md","variant_annotation_id":1446896334,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"atorvastatin","pmid":26334272,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in percent change between the genotypes for total cholesterol (p=0.58), high-density lipoprotein cholesterol (HDL-C; p=0.15), low-density lipoprotein cholesterol (LDL-C; p=0.34) or triglycerides (p=0.92). Patients were treated with atorvastatin for 4 weeks at 10 mg/day.","sentence":"Genotypes CC + CT is not associated with response to atorvastatin in people with Hypercholesterolemia as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3749570","article_title":"VEGF-A polymorphisms predict progression-free survival among advanced castration-resistant prostate cancer patients treated with metronomic cyclophosphamide","article_path":"articles/PMC3749570.md","variant_annotation_id":1183699169,"variant_haplotypes":"rs3025039","gene":"VEGFA","drugs":"cyclophosphamide","pmid":23860526,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference genotype frequencies were seen between patients who were responders to chemotherapy, and those who were non-responders. Patients with advanced prostate cancer undergoing metronomic chemotherapy. Responders were classified as patients who had a decrease in prostrate-specific antigen (PSA) of >= 50% and a PSA stabilization of >= 6 months. Patients also received celecoxib and dexamethasone, and some patients received docetaxel-, mitoxantrone-, and vinorelbine-based chemotherapeutic regimens.","sentence":"Genotype TT is not associated with response to cyclophosphamide in people with Prostatic Neoplasms as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC10838100","article_title":"Association of HTR1A Gene Polymorphisms with Efficacy and Plasma Concentrations of Atypical Antipsychotics in the Treatment of Male Patients with Schizophrenia","article_path":"articles/PMC10838100.md","variant_annotation_id":1452378440,"variant_haplotypes":"rs10042486","gene":"HTR1A","drugs":"quetiapine","pmid":38312123,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Plasma concentrations of the TT genotype at rs10042486 locus were significantly higher than those of the CT genotype at postrandomized week 6 (t = 3.126, P = 0.005).\"","sentence":"Genotype TT is associated with increased concentrations of quetiapine in men with Schizophrenia as compared to genotype CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC7616417","article_title":"Prenatal efavirenz exposure is independently associated with maternal, but not fetal CYP2B6 genotype","article_path":"articles/PMC7616417.md","variant_annotation_id":1452517924,"variant_haplotypes":"CYP2B6 poor metabolizer","gene":"CYP2B6","drugs":"efavirenz","pmid":38934229,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Efavirenz newborn concentration varies based on both CYP2B6 516 G>T (rs3745274) and CYP2B6 983 T>C (rs28399499) newborn genotype (Table 3). The median (IQR) efavirenz DBS concentration in newborn stratified as fast (CYP2B6 516 GG, n\u2005=\u200525), intermediate (CYP2B6 516 GT, n\u2005=\u200536), and slow metabolizers (CYP2B6 516 TT, n\u2005=\u200519). 17.4\u2005h after maternal dose were 999.7\u2005ng/ml (744\u20131285), 1240\u2005ng/ml (709\u20131984), and 1792\u2005ng/ml (1201\u20133188), respectively. Similarly, newborn efavirenz DBS concentration varied based on maternal CYP2B6 genotypes: fast metabolizers (n\u2005=\u200526), 747\u2005ng/ml (602\u20131060); intermediate metabolizers (n\u2005=\u200550), 1177 (898\u20131765); and slow metabolizers (n\u2005=\u200514), 3094 (2126 3812). Additionally, we observed a genotype effect on efavirenz concentrations in newborns when stratified by CYP2B6 genotype within each maternal reference group (fast, intermediate, and slow). Newborns with a slow metabolizer status, born to mothers with intermediate or slow metabolizer statuses, had higher efavirenz plasma exposure.\"","sentence":"CYP2B6 poor metabolizer is associated with increased exposure to efavirenz in infants as compared to CYP2B6 normal metabolizer and intermediate metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in infants","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} +{"pmcid":"PMC11435314","article_title":"An Investigational Study on the Role of CYP2D6, CYP3A4 and UGTs Genetic Variation on Fesoterodine Pharmacokinetics in Young Healthy Volunteers","article_path":"articles/PMC11435314.md","variant_annotation_id":1452616400,"variant_haplotypes":"CYP2D6 ultrarapid metabolizer","gene":"CYP2D6","drugs":"fesoterodine","pmid":39338398,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Lastly, Cl/F was significantly higher in the CYP2D6 UMs compared to the NMs and IMs/PMs (puv = 0.008 and puv < 0.001, respectively; \u03b2 = \u22120.131, R2 =0.409, pmv = 0.001) and lower in the CYP2D6 IMs/PMs compared to the NMs (puv = 0.005) (Table 3).\" The 21 SNPs for CYP2D6 measured are listed in table 5 and methods states that \"deletion (*5), duplication, and the presence of hybrid structures were analyzed\".","sentence":"CYP2D6 ultrarapid metabolizer is associated with increased clearance of fesoterodine in healthy individuals as compared to CYP2D6 normal metabolizer and intermediate metabolizer and poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer and poor metabolizer"} +{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373183,"variant_haplotypes":"rs2236257","gene":"OPRM1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not significantly associated with compliance with methadone maintenance therapy or 'negative rate of morphine urine test'.","sentence":"Allele C is not associated with response to methadone in people with Heroin Dependence as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2715837","article_title":"G-Protein-Coupled Receptor Kinase 4 Polymorphisms and Blood Pressure Response to Metoprolol Among African Americans: Sex-Specificity and Interactions","article_path":"articles/PMC2715837.md","variant_annotation_id":827864080,"variant_haplotypes":"rs2960306","gene":"GRK4","drugs":"metoprolol","pmid":19119263,"phenotype_category":"Efficacy","significance":"yes","notes":"in cox regression analysis when examining the rs1024323 genotype (variant interaction analysis - no association was found examining this variant on its own). Response was measured by time to reach a mean arterial pressure of < or = 107 mm Hg.","sentence":"Genotypes GT + TT are associated with decreased response to metoprolol in men with hypertensive nephrosclerosis.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:hypertensive nephrosclerosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4012056","article_title":"Determination of the Most Influential Sources of Variability in Tacrolimus Trough Blood Concentrations in Adult Liver Transplant Recipients: A Bottom-Up Approach","article_path":"articles/PMC4012056.md","variant_annotation_id":1184470927,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"tacrolimus","pmid":24526611,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"There was a significant difference in the mean apparent clearance between the three different genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AG + GG is associated with increased clearance of tacrolimus in people with liver transplantation as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4615595","article_title":"Association of Common C-Reactive Protein (CRP) Gene Polymorphisms With Baseline Plasma CRP Levels and Fenofibrate Response","article_path":"articles/PMC4615595.md","variant_annotation_id":982044416,"variant_haplotypes":"rs3091244","gene":"CRP","drugs":"fenofibrate","pmid":18285551,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the GG, GA and GT genotypes had a greater reduction in C-reactive protein (CRP) levels between baseline and 3 weeks of treatment, as compared to those with the AA and AT genotypes. In strong linkage disequilibrium with rs1205 and rs1417938 (r2 = 0.4 - 0.9, p < 0.001) and rs3093059 (r2 = 0.935, p < 0.001).","sentence":"Genotypes GG + GT are associated with increased response to fenofibrate in people with Metabolic Syndrome as compared to genotypes AA + AT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metabolic Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AT","comparison_metabolizer_types":null} +{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449715954,"variant_haplotypes":"rs7583431","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Efficacy","significance":"yes","notes":"Increased copy number of the A allele correlated with an increase in the analgesic effect of fentanyl.","sentence":"Allele A is associated with increased response to fentanyl in people with Pain, Postoperative as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11221861","article_title":"ABCG2 polymorphism and rivaroxaban pharmacokinetics in healthy individuals after a single dose","article_path":"articles/PMC11221861.md","variant_annotation_id":1452523920,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"rivaroxaban","pmid":38958362,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"In our dataset, individuals with the ABCG2 421 A/A genotype had considerably higher average values of Vd/F (508.27\u00b172.79 L; P=0.001) and t1/2 (41.04\u00b123.73 h; P=0.000) compared to those with the other genotypes, 421 C/A and 421 C/C, with no statistically significant difference between means.\" \"Individuals carrying two mutant alleles in the ABCG2 SNP tended to have lower AUC, Cmax, and Cl/F (as shown in Table 4) compared to carriers of the wild-type genotype. However, it is essential to note that these differences did not achieve statistical significance (P>0.05).\" This was reported for the fasting group which had 2 TT individuals, the fed group had no TT individuals.","sentence":"Genotype TT is associated with increased half-life time of rivaroxaban in healthy individuals as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"half-life time of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC3760447","article_title":"CYP2C19 polymorphisms in the Thai population and the clinical response to clopidogrel in patients with atherothrombotic-risk factors","article_path":"articles/PMC3760447.md","variant_annotation_id":1183681642,"variant_haplotypes":"CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"clopidogrel","pmid":24019752,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the *2/*2, *2/*3 or *3/*3 genotype had a greater likelihood of being a non-responder to clopidogrel (a platelet inhibition percentage of < 10% pre- and post-treatment) than a responder (a platelet inhibition percentage of >= 10% pre- and post-treatment).","sentence":"CYP2C19 *2/*2 + *2/*3 + *3/*3 is associated with decreased response to clopidogrel in people with Cardiovascular Diseases.","alleles":"*2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10970167","article_title":"PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis","article_path":"articles/PMC10970167.md","variant_annotation_id":1452433596,"variant_haplotypes":"rs1045895","gene":"LEPR, LEPROT","drugs":"apremilast","pmid":38540428,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Allele-based association tests detected 64 SNPs displaying nominal p values < 0.05 (Table 2) including 10 SNPs with p values \u2264 0.01. \" Table 2 shows frequency of minor allele is responders and non-responders. Responder status maybe defined by PASI score improvement greater than 75% after 24\u201336 weeks of treatment. \"Apart from the allelic association, SNP rs1045895 also shows association with the response under the dominant model of inheritance\"","sentence":"Genotypes AA + AG is associated with decreased clinical benefit to apremilast in people with Psoriasis as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5908314","article_title":"Pharmacogenetics-based area-under-curve model can predict efficacy and adverse events from axitinib in individual patients with advanced renal cell carcinoma","article_path":"articles/PMC5908314.md","variant_annotation_id":1449310581,"variant_haplotypes":"rs17868323","gene":"UGT1A7","drugs":"axitinib","pmid":29682213,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors develop a prediction model and calculated area under the concentration curve (AUC) using 6 SNPs (rs17868323, rs3832043, rs2231142, rs2032582, rs1045642, rs35305980) was compared with actual AUC in 16 patients prospectively which significantly correlated with the objective response rate (P = 0.0002), hand-foot syndrome, P = 0.0055 and hypothyroidism, P = 0.0381, and correlated with actual AUC (P < 0.0001) - the validation study, calculated AUC prior to axitinib treatment precisely predicted actual AUC after axitinib treatment (P = 0.0066).","sentence":"Allele G is associated with concentrations of axitinib in people with Carcinoma, Renal Cell as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896014,"variant_haplotypes":"rs10512361","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit). Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Allele C is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767362,"variant_haplotypes":"rs1053316","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele A is not associated with trough concentration of vancomycin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359571,"variant_haplotypes":"rs3842727","gene":"TH","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of methadone in people with Heroin Dependence as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3774043","article_title":"Intestinal CYP3A4 and Midazolam Disposition in vivo Associate with VDR Polymorphisms and Show Seasonal Variation","article_path":"articles/PMC3774043.md","variant_annotation_id":981505339,"variant_haplotypes":"rs4516035","gene":"VDR","drugs":"midazolam","pmid":22484315,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"TT > TC > CC.","sentence":"Allele T is associated with increased clearance of midazolam as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3690108","article_title":"Correlation of aldo-ketoreductase (AKR) 1C3 genetic variant with doxorubicin pharmacodynamics in Asian breast cancer patients","article_path":"articles/PMC3690108.md","variant_annotation_id":1451608120,"variant_haplotypes":"rs1937840","gene":"AKR1C3","drugs":"docetaxel, doxorubicin","pmid":23116553,"phenotype_category":"Efficacy","significance":"yes","notes":"GG genotype was associated with increases in both overall survival and progression-free survival. IMPORTANT NOTE: Multiple correction was NOT conducted in this study (Many different time points, many different measurement/calculations and 7 different SNPs were analyzed)","sentence":"Genotype GG is associated with increased response to docetaxel and doxorubicin in women with Breast Neoplasms as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} +{"pmcid":"PMC6786370","article_title":"Influences of an NR1I2 polymorphism on heterogeneous antiplatelet reactivity responses to clopidogrel and clinical outcomes in acute ischemic stroke patients","article_path":"articles/PMC6786370.md","variant_annotation_id":1450129827,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"clopidogrel","pmid":30487649,"phenotype_category":"Efficacy","significance":"yes","notes":"This variant is associated with decreased H4 concentration, and decreased antiplatelet effects of clopidogrel with a higher PRU.","sentence":"Genotypes AA + AG is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4220988","article_title":"Impact of the Superoxide Dismutase 2 Val16Ala Polymorphism on the Relationship between Valproic Acid Exposure and Elevation of \u03b3-Glutamyltransferase in Patients with Epilepsy: A Population Pharmacokinetic-Pharmacodynamic Analysis","article_path":"articles/PMC4220988.md","variant_annotation_id":1444608497,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"valproic acid","pmid":25372290,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Clearance here refers to apparent oral clearance as assayed by serum concentration of valproic acid (VPA) (micrograms/ml). The authors used NONEM to assess serum concentration of VPA.","sentence":"CYP2C19 *2 + *3 are not associated with clearance of valproic acid in people with Epilepsy as compared to CYP2C19 *1.","alleles":"*2 + *3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767309,"variant_haplotypes":"rs3008607","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele A is not associated with trough concentration of vancomycin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5531276","article_title":"Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to photodynamic therapy","article_path":"articles/PMC5531276.md","variant_annotation_id":981478575,"variant_haplotypes":"rs10490924","gene":"ARMS2","drugs":"Photodynamic therapy","pmid":18292785,"phenotype_category":"Efficacy","significance":"no","notes":"While there was no significant association between genotype and response to PDT, there was a trend between visual acuity post treatment and genotype. Visual acuity post-PDT declined 1.0 line for the TT genotype, 2.1 lines for the GT genotype and 4.1 lines for the GG genotype. This is interesting because, while it is not statistically significant (P=0.08), the allele that puts patients at higher risk of developing age-related macular degeneration (allele T) seems to also confer a better treatment outcome.","sentence":"Genotypes GG + GT are not associated with response to photodynamic therapy in people with Macular Degeneration as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356757,"variant_haplotypes":"rs1800896","gene":"IL10","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161400,"variant_haplotypes":"CYP2B6*1, CYP2B6*4, CYP2B6*6","gene":"CYP2B6","drugs":"methadone","pmid":21589866,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in genotype or phenotype frequencies between responders and non-responders, as defined by drug misuse during methadone maintenance therapy. No details about which specific variants/alleles were tested for, however the authors state that genotyping of *1/*6 individuals did not exclude the possibility of them actually being *4/*9.","sentence":"CYP2B6 *1/*4 + *1/*6 + *4/*6 + *6/*6 are not associated with response to methadone in people with Opioid-Related Disorders as compared to CYP2B6 *1/*1.","alleles":"*1/*4 + *1/*6 + *4/*6 + *6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5382092","article_title":"Variation in CYP2A6 and nicotine metabolism among two American Indian tribal groups differing in smoking patterns and risk for tobacco-related cancer","article_path":"articles/PMC5382092.md","variant_annotation_id":1448601760,"variant_haplotypes":"CYP2A6*1, CYP2A6*46","gene":"CYP2A6","drugs":"nicotine","pmid":28181923,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Study was among smokers. Please note that the *46 allele is described as the *1B1 allele in the paper and has subsequently been reassigned by PharmVar.","sentence":"CYP2A6 *46/*46 is associated with increased metabolism of nicotine in healthy individuals as compared to CYP2A6 *1/*1.","alleles":"*46/*46","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165120,"variant_haplotypes":"rs12208357","gene":"SLC22A1","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele T is associated with increased exposure to metformin in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6400024","article_title":"Effect of Multidrug-Resistant 1 (MDR1) and CYP3A4*1B Polymorphisms on Cyclosporine-Based Immunosuppressive Therapy in Renal Transplant Patients","article_path":"articles/PMC6400024.md","variant_annotation_id":1451440801,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"cyclosporine","pmid":30799432,"phenotype_category":"Dosage","significance":"no","notes":"Patients with the *1/*1 genotype had lower mean cyclosporine A doses than patients with the *1/*1B genotype. Mapped *1B to rs2740574 C and *1A to rs2740574 T based on PharmVAR consolidation of core alleles. However, this was not a significant association.","sentence":"Genotype TT is associated with decreased dose of cyclosporine in people with Kidney Transplantation as compared to genotype CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3401172","article_title":"An Acenocoumarol Dosing Algorithm Using Clinical and Pharmacogenetic Data in Spanish Patients with Thromboembolic Disease","article_path":"articles/PMC3401172.md","variant_annotation_id":1448259324,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"acenocoumarol","pmid":22911785,"phenotype_category":"Dosage","significance":"yes","notes":"This variant was significantly associated with acenocoumarol dose, and explained 22% of the variability in dose. Clinical variables (Age, BMI, Enzyme inducers status and Amiodarone status) explained 22% of the variability in dose. This study developed an algorithm for acenocoumarol dosing using clinical and pharmacogenetic data.","sentence":"Allele T is associated with dose of acenocoumarol.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3873034","article_title":"Genome-wide association study identifies a potent locus associated with human opioid sensitivity","article_path":"articles/PMC3873034.md","variant_annotation_id":1451747900,"variant_haplotypes":"rs2952768","gene":null,"drugs":"opioids","pmid":23183491,"phenotype_category":"Efficacy","significance":"yes","notes":"The C/C genotype of this SNP was also significantly associated with the elevated expression of a neighboring gene, CREB1.","sentence":"Genotype CC is associated with decreased response to opioids in people with Pain, Postoperative as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4867099","article_title":"Pharmacogenetics of unboosted atazanavir in HIV-infected individuals in resource-limited settings: a sub-study of the AIDS Clinical Trials Group (ACTG) PEARLS study (NWCS 342)","article_path":"articles/PMC4867099.md","variant_annotation_id":1447947686,"variant_haplotypes":"rs1523130","gene":"NR1I2","drugs":"atazanavir","pmid":26892777,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Looked at CL/F, concentration at 24 hours, and ratios of metabolites M1 and M2 to atazanavir.","sentence":"Genotype CC (assigned as deficiency phenotype) is not associated with concentrations of atazanavir in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6586010","article_title":"No Clinical Impact of CYP3A5 Gene Polymorphisms on the Pharmacokinetics and/or Efficacy of Maraviroc in Healthy Volunteers and HIV\u20101\u2013Infected Subjects","article_path":"articles/PMC6586010.md","variant_annotation_id":1450371727,"variant_haplotypes":"CYP3A5 poor metabolizers and intermediate metabolizers","gene":"CYP3A5","drugs":"efavirenz, maraviroc","pmid":30192390,"phenotype_category":"Efficacy","significance":"no","notes":"There was no statistical significant difference in the number of subjects with HIV-1 RNA <50 and <400 copies/mL at weeks 48 and 96 of maraviroc and efavirenz treatment between CYP3A5 metabolizer phenotypes.","sentence":"CYP3A5 intermediate metabolizer and poor metabolizer are not associated with response to efavirenz or maraviroc in people with HIV Infections as compared to CYP3A5 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":982043709,"variant_haplotypes":"rs2246709","gene":"CYP3A4","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"no","notes":"No significant change in the likelihood of a patient reaching a target mean arterial pressure concentration of <= 107 mmHg was seen between genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AG + GG are not associated with response to amlodipine in people with Hypertension as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6586010","article_title":"No Clinical Impact of CYP3A5 Gene Polymorphisms on the Pharmacokinetics and/or Efficacy of Maraviroc in Healthy Volunteers and HIV\u20101\u2013Infected Subjects","article_path":"articles/PMC6586010.md","variant_annotation_id":1450371753,"variant_haplotypes":"CYP3A5 poor metabolizers","gene":"CYP3A5","drugs":"maraviroc","pmid":30192390,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In study A4001026, CYP3A5 poor metabolizers had a significant decrease in average maraviroc plasma concentrations compared to extensive metabolizers, contrary to what would be expected. The authors suggest that that this result may have been influenced by a number of variables, including HIV infection, in the study. This significance was lost when the 'black' and 'white' cohorts were analyzed separately. The authors determined this difference in maraviroc concentrations to not be clinically significant.","sentence":"CYP3A5 poor metabolizer is associated with decreased concentrations of maraviroc in people with HIV Infections as compared to CYP3A5 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4350512","article_title":"Genetic markers associated with abstinence length in alcohol-dependent subjects treated with acamprosate","article_path":"articles/PMC4350512.md","variant_annotation_id":1184988665,"variant_haplotypes":"rs2160733","gene":"GRIN2B","drugs":"acamprosate","pmid":25290263,"phenotype_category":"Efficacy","significance":"no","notes":"Tag SNPs (518 total) were selected within genes associated with alcoholism as well as genes encoding enzymes involved in glycine metabolism, glycine transporters, subunits of glycine receptors, NMDA receptors, genes involved in glutamate reuptake, synthesis or degradation and genes with reported associations with acamprosate treatment outcomes in human or animal studies. The length of time to first alcohol use \u201csurvival analysis method\u201d was used to examine associations between clinical variables and genetic markers with efficacy of acomprasate (its ability to length the duration of abstinence from alcohol). The analyses were replicated in a subset of 110 participants from PREDICT, a double-blind randomized controlled trial that compared treatment outcomes including length of abstinence among alcohol- dependent subjects of German descent recruited from inpatient facilities and treated with acamprosate, naltrexone or placebo for 3 months.","sentence":"Allele C is not associated with response to acamprosate in people with Alcoholism as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557869,"variant_haplotypes":"rs1801394","gene":"MTRR","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele was independently associated with worse response using two distinct measures of response 1) the difference in Disease Activity Score 28 between baseline and 6 months later (deltaDAS28) and 2) the European League Against Rheumatism (EULAR) criteria. For DAS28, each A allele corresponded to 0.14 deltaDAS28 units in an additive model vs the G allele (indicating worse response assoc. with A allele). Using EULAR criteria the A allele also had an increased OR=1.39 for non-response (95% CI 1.11\u20131.75).","sentence":"Allele A is associated with decreased response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6562943","article_title":"Patients carrying CYP2C8*3 have shorter systemic paclitaxel exposure","article_path":"articles/PMC6562943.md","variant_annotation_id":1450180334,"variant_haplotypes":"CYP2C8*3","gene":"CYP2C8","drugs":"paclitaxel","pmid":30520341,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as measured by time above threshold concentration. CYP2C8*1/*3 or CYP2C8*3/*3 mean = 8.92 h, CYP2C8*1/*1 mean = 11.03 h","sentence":"CYP2C8 *3 is associated with decreased exposure to paclitaxel in women with Breast Neoplasms.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359426,"variant_haplotypes":"rs3842727","gene":"TH","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of heroin in people with Heroin Dependence as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928288,"variant_haplotypes":"rs6295","gene":"HTR1A","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":982043591,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"yes","notes":"Women who were carriers for the T allele were more likely to reach the target mean arterial pressure of <= 107 mm Hg when treated with amlodipine. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are associated with increased response to amlodipine in women with Hypertension as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032576,"variant_haplotypes":"rs2283265","gene":"DRD2","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was not statistically significant after permutation analysis based on 40,000 replicates, and not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction). Note; this association may be linked to the association with rs7118900 in the ANKK1 gene. Alleles were reported as T/G, here they are complemented for the positive chromosomal strand with A representing T and C representing G.","sentence":"Genotypes AA + AC are associated with decreased dose of methadone in people with Heroin Dependence as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC9515473","article_title":"Genetic determinants of apixaban plasma levels and their relationship to bleeding and thromboembolic events","article_path":"articles/PMC9515473.md","variant_annotation_id":1451913100,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"apixaban","pmid":36186466,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"was significant for 3 measures of PK : AUCss, Cmax,ss, and Cmin,ss.","sentence":"Allele G is associated with decreased concentrations of apixaban in people with Atrial Fibrillation as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1448613482,"variant_haplotypes":"rs4986893","gene":"CYP2C19","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with normalized dose when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together.","sentence":"Allele G is not associated with dose of selumetinib in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491220,"variant_haplotypes":"rs10214163","gene":"SV2C","drugs":"quetiapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype TT is not associated with response to quetiapine in people with Schizophrenia as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC7115450","article_title":"Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial","article_path":"articles/PMC7115450.md","variant_annotation_id":1451148543,"variant_haplotypes":"rs1800532","gene":"TPH1","drugs":"escitalopram","pmid":31721892,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes GT + TT are associated with decreased response to escitalopram in people with Depression as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3048137","article_title":"Association of IL28B gene variations with mathematical modeling of viral kinetics in chronic hepatitis C patients with IFN plus ribavirin therapy","article_path":"articles/PMC3048137.md","variant_annotation_id":981481554,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2a, ribavirin","pmid":21321200,"phenotype_category":"Efficacy","significance":"yes","notes":"no GG patients were seen. SVR (at 24 weeks) was seen in 87% TT vs. 50% GT.","sentence":"Genotype TT is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to genotype GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT","comparison_metabolizer_types":null} +{"pmcid":"PMC1884506","article_title":"Effects of various factors on steady-state plasma concentrations of risperidone and 9-hydroxyrisperidone: lack of impact of MDR-1 genotypes","article_path":"articles/PMC1884506.md","variant_annotation_id":1183620382,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"risperidone","pmid":15089809,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association was seen between this SNP and metabolism of risperidone.","sentence":"Allele G is not associated with increased metabolism of risperidone in people with Schizophrenia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2949912","article_title":"New genetic variant that might improve warfarin dose prediction in African Americans","article_path":"articles/PMC2949912.md","variant_annotation_id":827808098,"variant_haplotypes":"rs17886199","gene":"PRSS53, VKORC1","drugs":"warfarin","pmid":20716240,"phenotype_category":"Dosage","significance":"yes","notes":"independent of the VKORC1 1173C>T and CYP2C9*2 and *3 variants in African Americans.","sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3997354","article_title":"Genetic Polymorphism of Cytochrome P450 4F2, Vitamin E Level and Histological Response in Adults and Children with Nonalcoholic Fatty Liver Disease Who Participated in PIVENS and TONIC Clinical Trials","article_path":"articles/PMC3997354.md","variant_annotation_id":1184472053,"variant_haplotypes":"rs3093105","gene":"CYP4F2","drugs":"vitamin e","pmid":24759732,"phenotype_category":"Efficacy","significance":"no","notes":"The C allele is not significantly associated with improved liver histology in pediatric or adult patients receiving vitamin E (alpha-tocopherol) supplements.","sentence":"Allele C is not associated with response to vitamin e in people with Fatty liver disease as compared to allele A.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fatty liver disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC9809306","article_title":"Exonuclease 1 genetic variant is associated with clinical outcomes of pemetrexed chemotherapy in lung adenocarcinoma","article_path":"articles/PMC9809306.md","variant_annotation_id":1451978320,"variant_haplotypes":"rs1653586","gene":"CAMKK2","drugs":"pemetrexed","pmid":36606188,"phenotype_category":"Efficacy","significance":"yes","notes":"Figure 1 has \"GG vs GT+TT\" but table 4 shows that no TT individuals were reported.","sentence":"Genotype GT is associated with decreased clinical benefit to pemetrexed in people with Lung Neoplasms as compared to genotype GG.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2748889","article_title":"Association of serum cotinine level with a cluster of three nicotinic acetylcholine receptor genes (CHRNA3/CHRNA5/CHRNB4) on chromosome 15","article_path":"articles/PMC2748889.md","variant_annotation_id":981750833,"variant_haplotypes":"rs1051730","gene":"CHRNA3","drugs":"nicotine","pmid":19628476,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Serum Cotinine levels were measured to test for association between nicotine intake and this SNP. AA>AG>GG for serum cotinine levels in daily smokers. Authors noted that the variance was very high (R-squared = 4.3%). Effect size of this SNP was 0.30 . Cigarettes per day was also associated but not significantly so after correction for multiple testing.","sentence":"Allele A is associated with increased dose of nicotine as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715526,"variant_haplotypes":"rs10028494","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Efficacy","significance":"yes","notes":"There was a significant difference in PPLpost-PPLpre between the genotype groups.","sentence":"Genotype CC is associated with decreased response to fentanyl in people with Pain, Postoperative as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC2943151","article_title":"Dual specificity phosphatase-1 as a pharmacogenetic modifier of inhaled steroid response among asthma patients","article_path":"articles/PMC2943151.md","variant_annotation_id":769174162,"variant_haplotypes":"rs881152","gene":"DUSP1","drugs":"salbutamol","pmid":20673984,"phenotype_category":"Efficacy","significance":"not stated","notes":"Subjects were taking inhaled corticosteroids.","sentence":"Allele G is associated with increased response to salbutamol in people with Asthma as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5432414","article_title":"ABC Transporter Polymorphisms are Associated with Irinotecan Pharmacokinetics and Neutropenia","article_path":"articles/PMC5432414.md","variant_annotation_id":1448432589,"variant_haplotypes":"rs8187843","gene":"ABCC1","drugs":"SN-38","pmid":27845419,"phenotype_category":"Metabolism/PK","significance":"no","notes":"AUC of SN-38 was adjusted for irinotecan dose.","sentence":"Genotypes AA + AG are not associated with exposure to SN-38 in people with Colorectal Neoplasms as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166112,"variant_haplotypes":"rs9901673","gene":"SENP3","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele A is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":982043679,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"no","notes":"No significant change in the likelihood of a woman reaching a target mean arterial pressure concentration of <= 92 mmHg was seen between genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are not associated with response to amlodipine in women with Hypertension as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359330,"variant_haplotypes":"rs1042098","gene":"SLC6A3","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of heroin in people with Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC11773121","article_title":"Sub\u2010 and supratherapeutic efavirenz plasma concentrations with risk for HIV therapy failure are mainly genetically explained in Ugandan children: The prospective GENEFA cohort study","article_path":"articles/PMC11773121.md","variant_annotation_id":1452639900,"variant_haplotypes":"CYP2B6 intermediate metabolizer","gene":"CYP2B6","drugs":"efavirenz","pmid":39380207,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"extensive metabolizer (EM), 516GGj983TT, intermediate metabolizer (IM), 516GGj983TC or 516GTj983TT, slow metabolizer (SM) 516GTj983TC or 516TTj983TT. \" \" Both IM and SM phenotype were significantly associated with higher loge EFV plasma concentra-tion compared to EM (P = .03 and .00, respectively).\"","sentence":"CYP2B6 intermediate metabolizer and poor metabolizer is associated with increased concentrations of efavirenz in children with HIV infectious disease as compared to CYP2B6 normal metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC2000718","article_title":"Effect of ABCB1 (MDR1) haplotypes derived from G2677T/C3435T on the pharmacokinetics of amlodipine in healthy subjects","article_path":"articles/PMC2000718.md","variant_annotation_id":982043554,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"amlodipine","pmid":16869811,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"When analyzed in combination with genotypes from rs1045642. The haplotypes were: 2677CC/3435GG, 2677AC/3435AG, 2677AA/3435AA, where rs2032582 = position 2677 and rs1045642 = position 3435.; Individuals with the 2677CC/3435GG haplotype had increased area under the time-concentration curve from 0 to 144 hours (AUC0-144) and from 0 to infinity (AUC0-infinity) and decreased oral clearance (CL/F) as compared to haplotypes 2677AA/3435AA + 2677AC/3435AG, and increased peak plasma concentration (Cmax) as compared to haplotype 2677AA/3435AA ONLY. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype CC is associated with decreased clearance of amlodipine in healthy individuals as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC3116045","article_title":"The Contribution of Common CYP2A6 Alleles to Variation in Nicotine Metabolism Among European Americans","article_path":"articles/PMC3116045.md","variant_annotation_id":1451675720,"variant_haplotypes":"CYP2A6*1, CYP2A6*2, CYP2A6*4, CYP2A6*9, CYP2A6*14, CYP2A6*38, CYP2A6*46","gene":"CYP2A6","drugs":"nicotine","pmid":21597399,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"*2 and *4 are used as examples of 'null' alleles. Please note that this study uses the *1B allele (subsequently reassigned as *46 by PharmVar) as the 'reference allele' and that the *38 allele is described in the paper as '*1D-Y351H'.","sentence":"CYP2A6 *1 + *46 + *9 + *14 + *38 are associated with increased metabolism of nicotine as compared to CYP2A6 *2 + *4.","alleles":"*1 + *46 + *9 + *14 + *38","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2 + *4","comparison_metabolizer_types":null} +{"pmcid":"PMC3984266","article_title":"Germline Variation in Colorectal Risk Loci Does Not Influence Treatment Effect or Survival in Metastatic Colorectal Cancer","article_path":"articles/PMC3984266.md","variant_annotation_id":1446895539,"variant_haplotypes":"rs4939827","gene":"SMAD7","drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":24727911,"phenotype_category":"Efficacy","significance":"no","notes":"SNPs were investigated for their effects on response rate, time to progression and overall survival. After accounting for multiple testing there was no association with any SNPs and outcomes of patients with metastatic colorectal cancer.","sentence":"Allele C is not associated with response to fluorouracil, irinotecan and oxaliplatin in people with Colorectal Neoplasms and Neoplasm Metastasis as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms, Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930612,"variant_haplotypes":"rs660652","gene":"CHRNA3","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele A is not associated with exposure to nicotine in men as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6501809","article_title":"Pharmacokinetic-Pharmacodynamic interaction associated with venlafaxine-XR remission in patients with major depressive disorder with history of citalopram / escitalopram treatment failure","article_path":"articles/PMC6501809.md","variant_annotation_id":1452046232,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"venlafaxine","pmid":30578947,"phenotype_category":"Efficacy","significance":"no","notes":"The 5-HTTLPR was not associated with significant differences in remission (QIDS-C16) in patients receiving duloxetine (duloxetine after SSRI failure).","sentence":"SLC6A4 HTTLPR long form (L allele) is not associated with response to venlafaxine in people with Depressive Disorder, Major as compared to SLC6A4 HTTLPR short form (S allele).","alleles":"HTTLPR long form (L allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR short form (S allele)","comparison_metabolizer_types":null} +{"pmcid":"PMC3403289","article_title":"CHRNB2 Promoter Region: Association with subjective effects to nicotine and expression differences","article_path":"articles/PMC3403289.md","variant_annotation_id":981483837,"variant_haplotypes":"rs2072658","gene":"CHRNB2","drugs":"nicotine","pmid":20854418,"phenotype_category":"Other","significance":"yes","notes":"Response(sweating, heart pounding and nausea) to the first experimental cigarette was measured using the NEQ(nicotine effects scale). There were no AA subjects.","sentence":"Genotype AG is associated with increased response to nicotine in people with daily smoking as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:daily smoking","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC556232","article_title":"Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin","article_path":"articles/PMC556232.md","variant_annotation_id":613978599,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"phenytoin","pmid":15805193,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with increased dose of phenytoin in people with Epilepsy as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC8472669","article_title":"Genetic Polymorphisms of GGH and ABCC2 Are Associated with Methotrexate Intolerance in Patients with Rheumatoid Arthritis","article_path":"articles/PMC8472669.md","variant_annotation_id":1451535140,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"methotrexate","pmid":34575187,"phenotype_category":"Toxicity","significance":"yes","notes":"Patients receiving MTX and bDMARD treatment (combined treatment) at the time of the study were considered \u201ctolerant\u201d to MTX. Patients receiving bDMARD monotherapy at the study visit were asked about the reason for MTX discontinuation. In cases of discontinuation due to adverse events or toxicity (such as nausea; vomiting; dyspepsia; alopecia; oral ulcers; leukopenia; hepatic alterations, defined as alanine aminotransferase levels greater than 1.5 times the upper normal limit; or pulmonary toxicity), these patients were considered \u201cintolerant\u201d to MTX.","sentence":"Genotypes CT + TT is associated with decreased discontinuation of methotrexate in people with Arthritis, Rheumatoid as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Side Effect:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862244,"variant_haplotypes":"rs174699","gene":"ARVCF, COMT","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs2075507,rs7287550, rs5746849, rs737866, rs6269, rs2239393, rs4818, rs4680, rs737866, rs165728). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here.","sentence":"Allele T is associated with decreased dose of morphine in people with Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC9373641","article_title":"The effect of alpha-2A adrenergic receptor (ADRA2A) genetic polymorphisms on the depth of sedation of dexmedetomidine: a genetic observational pilot study","article_path":"articles/PMC9373641.md","variant_annotation_id":1451444938,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"dexmedetomidine","pmid":33915198,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of dexmedetomidine in men as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10898793","article_title":"Polymorphisms in the A118G SNP of the OPRM1 gene produce different experiences of opioids: A human laboratory phenotype\u2013genotype assessment","article_path":"articles/PMC10898793.md","variant_annotation_id":1452358900,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"hydromorphone","pmid":38221808,"phenotype_category":"PD","significance":"yes","notes":"\"Participants with AG/GG rated low and moderate doses of hydromorphone as significantly more positive (e.g., Good Effects VAS, coasting, drive, friendly, talkative, stimulation) with fewer negative effects (e.g., itchy skin, nausea, sleepiness), and were also observed as being more talkative and energetic relative to persons with AA.\"","sentence":"Genotypes AG + GG is associated with increased response to hydromorphone in healthy individuals as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3760990","article_title":"Influence of CYP2C8*2 on the pharmacokinetics of pioglitazone in healthy African American volunteers","article_path":"articles/PMC3760990.md","variant_annotation_id":1450417453,"variant_haplotypes":"CYP2D6*1, CYP2D6*2","gene":"CYP2D6","drugs":"pioglitazone","pmid":23712614,"phenotype_category":"Metabolism/PK","significance":"no","notes":"CYP2D6 *1A/*2 + *2/*2 is not associated with pioglitazone plasma exposure (area under the plasma concentration-time curve (AUC)0-infinity) and half-life (t1/2 ) in healthy African-American volunteers when exposed to pioglitazone in healthy individuals as compared to CYP2D6 *1A/*1A.","sentence":"CYP2D6 *1/*2 + *2/*2 are not associated with metabolism of pioglitazone in healthy individuals as compared to CYP2D6 *1/*1.","alleles":"*1/*2 + *2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171079,"variant_haplotypes":"rs8192709","gene":"CYP2B6","drugs":"methadone","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with concentrations of methadone as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114894,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association between this variant and ACU0-12 of ritonavir in patients treated with lopinavir/ritonavir. Variant referred to in the paper as T512C.","sentence":"Allele C is not associated with exposure to ritonavir in children with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114860,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and clearance of lopinavir or ritonavir in patients treated with lopinavir/ritonavir. Variant referred to in the paper as G2677T.","sentence":"Allele A is not associated with clearance of lopinavir or ritonavir in children with HIV Infections as compared to allele C.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2906637","article_title":"ASSOCIATION BETWEEN POLYMORPHIC VARIATION IN VDR AND RXRA AND CIRCULATING LEVELS OF VITAMIN D METABOLITES","article_path":"articles/PMC2906637.md","variant_annotation_id":981755649,"variant_haplotypes":"rs9409929","gene":null,"drugs":"vitamin d and analogues","pmid":20307661,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was described as a trend towards increasing 1,25 (OH)2D levels with each additional copy of the A allele. p was not significant after correction for multiple testing.","sentence":"Allele A is associated with increased metabolism of vitamin d and analogues in people with Adenoma as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Adenoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC1873375","article_title":"Non-linear fluvoxamine disposition","article_path":"articles/PMC1873375.md","variant_annotation_id":1452643620,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"fluvoxamine","pmid":9517369,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Subjects are phenotyped with dextromethorphan. 2Pms and 8EMs. Fluvoxamine dose was steadily increased over 4 weeks.\"The two CYP2D6 PMs had AUC values in the same range as the EMs.\"","sentence":"CYP2D6 poor metabolizer is not associated with increased concentrations of fluvoxamine in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4716887","article_title":"Influence of ADME genomic variants on tacrolimus/sirolimus blood levels and GVHD after allogeneic hematopoietic cell transplantation","article_path":"articles/PMC4716887.md","variant_annotation_id":1447674595,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":26325438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the *3/*3 genotype had higher median drug levels of tacrolimus as compared to those with the *1/*1 or *1/*3 genotype. Significant results were also observed for the dose-adjusted concentrations (C/D) of tacrolimus (p=0.01).","sentence":"CYP3A5 *3/*3 is associated with increased concentrations of tacrolimus in people with hematopoietic stem cell transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hematopoietic stem cell transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003535,"variant_haplotypes":"rs41303343","gene":"CYP3A5","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Median concentrations of lumefantrine 7 days after beginning treatment with artemether-lumefantrine was significantly higher in carriers of the A allele as compared to non-carriers.","sentence":"Allele A is associated with increased concentrations of lumefantrine in women with Malaria and Pregnancy as compared to allele del.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Other:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} +{"pmcid":"PMC4043918","article_title":"The impact of age and CYP2C9 and VKORC1 variants on stable warfarin dose in the paediatric population","article_path":"articles/PMC4043918.md","variant_annotation_id":1185235744,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":24601977,"phenotype_category":"Dosage","significance":"no","notes":"CYP4F2 genotype was not associated with stable warfarin dose.","sentence":"Allele C is not associated with dose of warfarin in children as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5866313","article_title":"Genome\u2010Wide Association Approach Identified Novel Genetic Predictors of Heart Rate Response to \u03b2\u2010Blockers","article_path":"articles/PMC5866313.md","variant_annotation_id":1450943585,"variant_haplotypes":"rs17117817","gene":"OR10P1","drugs":"atenolol, metoprolol","pmid":29478026,"phenotype_category":"PD","significance":"yes","notes":"as measured by decreased heart rate.","sentence":"Allele G is associated with decreased response to atenolol or metoprolol in people with Hypertension as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5600689","article_title":"Impact of Single Nucleotide Polymorphisms on Plasma Concentrations of Efavirenz and Lopinavir/ritonavir in Chinese Children Infected with the Human Immunodeficiency Virus","article_path":"articles/PMC5600689.md","variant_annotation_id":1448821568,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":28718515,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes GT + TT is associated with increased concentrations of efavirenz in children with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002437,"variant_haplotypes":"rs501415","gene":"WDR7","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3992925","article_title":"IL-4 receptor polymorphisms predict reduction in asthma exacerbations during response to an anti\u2013IL-4 receptor \u03b1 antagonist","article_path":"articles/PMC3992925.md","variant_annotation_id":981477298,"variant_haplotypes":"rs2239347","gene":"IL4R","drugs":"pitrakinra","pmid":22541248,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the AA genotype have a reduced frequency of asthma exacerbations compared to those with the AC + CC genotypes.","sentence":"Genotype AA is associated with increased response to pitrakinra in people with Asthma as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6387687","article_title":"Carfilzomib and lenalidomide response related to VEGF and VEGFR2 germline polymorphisms","article_path":"articles/PMC6387687.md","variant_annotation_id":1448634646,"variant_haplotypes":"rs833061","gene":"VEGFA","drugs":"carfilzomib, dexamethasone, lenalidomide","pmid":28488026,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors indicate repose as CR/nCR/sCR but do not define these and non-response as VGPR and PR/SD (which assume to mean progression/stable disease). They also test \"minimum residual disease negativity\" MRD- as measure of response.","sentence":"Genotypes CT + TT is associated with increased response to carfilzomib, dexamethasone and lenalidomide in people with Multiple Myeloma as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Multiple Myeloma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163518,"variant_haplotypes":"rs41303343","gene":"CYP3A5","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients, this was one of the variants that passed validation. Direction of effect was not stated. This variant was only present in the AA population.","sentence":"Allele A is associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele del.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} +{"pmcid":"PMC4445755","article_title":"Genetic variants in combination with early partial improvement as a clinical utility predictor of treatment outcome in major depressive disorder: the result of two pooled RCTs","article_path":"articles/PMC4445755.md","variant_annotation_id":1447681340,"variant_haplotypes":"rs6295","gene":"HTR1A","drugs":"milnacipran","pmid":25710119,"phenotype_category":"Efficacy","significance":"yes","notes":"depressive symptoms measured on Hamilton Rating Scale for Depression and outcome as change in symptoms, as measured 6 weeks after drug, following 10 days washout.","sentence":"Genotypes CC + CG are associated with increased response to milnacipran in people with Depressive Disorder as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC1364713","article_title":"Disposition of clozapine in man: lack of association with debrisoquine and S-mephenytoin hydroxylation polymorphisms","article_path":"articles/PMC1364713.md","variant_annotation_id":1183617637,"variant_haplotypes":"CYP2D6*1","gene":"CYP2D6","drugs":"clozapine","pmid":8148222,"phenotype_category":"Metabolism/PK","significance":"no","notes":"CYP2D6 genotype does not impact clozapine disposition.","sentence":"CYP2D6 *1 is not associated with metabolism of clozapine in healthy individuals.","alleles":"*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491506,"variant_haplotypes":"rs1458038","gene":"FGF5","drugs":"hydrochlorothiazide","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in systolic blood pressure (SBP) and diastolic blood pressure (DBP) after 9 weeks of treatment.","sentence":"Allele C is not associated with response to hydrochlorothiazide in people with Hypertension as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271238,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"no","notes":"Response defined by changes in the rate of dropout from treatment between genotypes.","sentence":"Genotype GG is not associated with response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} +{"pmcid":"PMC9468554","article_title":"Impact of the novel CYP2C:TG haplotype and CYP2B6 variants on sertraline exposure in a large patient population","article_path":"articles/PMC9468554.md","variant_annotation_id":1452014820,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*4","gene":"CYP2C19","drugs":"sertraline","pmid":35668575,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Compared to the reference group (CYP2C19*1/*1), patients homozygous for the non-functional CYP2C19 alleles (*2, *3, or *4) had a 2.3-fold (n = 29, p < 0.001) increase in serum concentrations of sertraline. Patients heterozygous for the non-functional alleles of CYP2C19 in combination with either CYP2C:TG or *1 had 1.21-fold and 1.37-fold increased sertraline concentration, respectively.","sentence":"CYP2C19 *2 + *3 + *4 are associated with increased concentrations of sertraline as compared to CYP2C19 *1/*1.","alleles":"*2 + *3 + *4","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5500390","article_title":"CYP2D6 Genetic Variation and Beta-Blocker Maintenance Dose in Patients with Heart Failure","article_path":"articles/PMC5500390.md","variant_annotation_id":1449717747,"variant_haplotypes":"CYP2D6*4","gene":"CYP2D6","drugs":"metoprolol","pmid":28181117,"phenotype_category":"Dosage","significance":"yes","notes":"Patients treated with metoprolol with 7.7 times more likely to have a lower maintenance dose of metoprolol for every *4 allele present.","sentence":"CYP2D6 *4 is associated with decreased dose of metoprolol in people with Heart Failure.","alleles":"*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC8081740","article_title":"Effects of NT5C2 germline variants on 6-mecaptopurine metabolism in children with acute lymphoblastic leukemia","article_path":"articles/PMC8081740.md","variant_annotation_id":1451502880,"variant_haplotypes":"rs58700372","gene":"CNNM2","drugs":"mercaptopurine","pmid":33124053,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant is associated with a significant decrease in TGN metabolite levels during 6-MP treatment in Children With Acute Lymphoblastic Leukemia. The study also showed that rs58700372 directly altered the activity of an intronic enhancer, with the variant allele linked to higher transcription activity and reduced 6-MP metabolism (lower TGN).","sentence":"Genotypes CC + CT are associated with decreased metabolism of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6510382","article_title":"VKORC1 and Novel CYP2C9 Variation Predict Warfarin Response in Alaska Native and American Indian People","article_path":"articles/PMC6510382.md","variant_annotation_id":1450370804,"variant_haplotypes":"rs2189784","gene":"CYP4F2","drugs":"warfarin","pmid":30821933,"phenotype_category":"Dosage","significance":"no","notes":"in Alaska Native and American Indian People.","sentence":"Allele G is not associated with dose of warfarin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5061780","article_title":"L\u2010thyroxine doses required for TSH suppression in patients with differentiated thyroid cancer: Effect of a novel UGT1 marker, rs11563250A > G","article_path":"articles/PMC5061780.md","variant_annotation_id":1448427044,"variant_haplotypes":"rs11563250","gene":"MROH2A, UGT1A","drugs":"levothyroxine","pmid":27527610,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with increased dose of levothyroxine in people with Thyroid Neoplasms.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Thyroid tumor","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11921366","article_title":"Novel LZTR1 germline mutation as a mechanism of resistance to osimertinib in EGFR-mutated lung adenocarcinoma: a case report","article_path":"articles/PMC11921366.md","variant_annotation_id":1453076500,"variant_haplotypes":"rs1411200130","gene":"LZTR1","drugs":"osimertinib","pmid":40114953,"phenotype_category":"Efficacy","significance":"no","notes":"\"Here we present a patient with initial stage IIIA (T1b cN2 M0) adenocarcinoma of the lung, with confirmed EGFR exon 19 mutation (c.2236\u20132250del) with potential resistance to TKIs due to her leucine-zipper-like transcriptional regulator-1 (LZTR1) c.1653C>G variant. \" Mapped by search of ClinVar.","sentence":"Allele G is associated with increased resistance to osimertinib in women with Non-Small Cell Lung Carcinoma.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC9298338","article_title":"No significant influence of OCT1 genotypes on the pharmacokinetics of morphine in adult surgical patients","article_path":"articles/PMC9298338.md","variant_annotation_id":1451648703,"variant_haplotypes":"rs34059508","gene":"SLC22A1","drugs":"morphine","pmid":34599645,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Analyzed as part of haplotypes with rs12208357, rs72552763 and rs34130495. There was a non-significant trend for patients carrying reduced function alleles to have increased exposure to morphine, but the change in exposure is not large enough to be of clinical importance.","sentence":"Allele A is not associated with exposure to morphine in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3774043","article_title":"Intestinal CYP3A4 and Midazolam Disposition in vivo Associate with VDR Polymorphisms and Show Seasonal Variation","article_path":"articles/PMC3774043.md","variant_annotation_id":981505272,"variant_haplotypes":"rs1544410","gene":"VDR","drugs":"midazolam","pmid":22484315,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CC > CT > TT.","sentence":"Allele C is associated with increased clearance of midazolam as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3658129","article_title":"Neurotrophic Tyrosine Kinase Receptor Type 2 (NTRK2) Gene Associated with Treatment Response to Mood Stabilizers in Patients with Bipolar I Disorder","article_path":"articles/PMC3658129.md","variant_annotation_id":981954249,"variant_haplotypes":"rs1387923","gene":"NTRK2","drugs":"lithium","pmid":23315174,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype AA is not associated with response to lithium in people with Bipolar Disorder as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC7274090","article_title":"Association of CYP2C19 Polymorphisms and Lansoprazole-Associated Respiratory Adverse Effects in Children","article_path":"articles/PMC7274090.md","variant_annotation_id":982047769,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*8, CYP2C19*9","gene":"CYP2C19","drugs":"lansoprazole","pmid":23623526,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP2C19 poor metabolizers (defined as having one or more of the following alleles: *2, *3, *8, or *9) were found to have significantly higher mean plasma concentrations of lansoprazole as compared to extensive metabolizers (defined as having two wildtype alleles). Some patients in the cohort included in the analysis also had the *17 allele, but how these were taken into consideration in terms of phenotype was not detailed.","sentence":"CYP2C19 *2 + *3 + *8 + *9 (assigned as poor metabolizer phenotype) is associated with decreased metabolism of lansoprazole in children with Asthma as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*2 + *3 + *8 + *9","specialty_population":"Pediatric","metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4737107","article_title":"Thiopurine dose intensity and treatment outcome in childhood lymphoblastic leukaemia: the influence of thiopurine methyltransferase pharmacogenetics","article_path":"articles/PMC4737107.md","variant_annotation_id":1333193294,"variant_haplotypes":"TPMT*1, TPMT*2, TPMT*3A, TPMT*3C, TPMT*9, TPMT*21, TPMT*33, TPMT*34","gene":"TPMT","drugs":"mercaptopurine, thioguanine","pmid":25441457,"phenotype_category":"Dosage","significance":"yes","notes":"As compared to those with the wild-type genotype (*1/*1), those patients heterozygous for the TPMT variant alleles had a 1) a lower average dose (70.4% vs 78.0%, where dose given as the % of standard protocol dose), 2) a greater percentage of time spent at no dose (20.8% vs 15.5%) and 3) a smaller percentage of time where the dose was escalated (2.4% vs 5.8%).","sentence":"TPMT *1/*2 + *1/*3A + *1/*3C + *1/*9 + *1/*21 + *1/*33 + *1/*34 is associated with decreased dose of mercaptopurine or thioguanine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT *1/*1.","alleles":"*1/*2 + *1/*3A + *1/*3C + *1/*9 + *1/*21 + *1/*33 + *1/*34","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550253,"variant_haplotypes":"rs2535764","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele T is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11049954","article_title":"Association of CYP3A4-392A/G, CYP3A5-6986A/G, and ABCB1-3435C/T Polymorphisms with Tacrolimus Dose, Serum Concentration, and Biochemical Parameters in Mexican Patients with Kidney Transplant","article_path":"articles/PMC11049954.md","variant_annotation_id":1452457641,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"tacrolimus","pmid":38674430,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles complemented.","sentence":"Genotype TT is not associated with increased concentrations of tacrolimus in people with Kidney Transplantation as compared to genotype CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375524,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment. This SNP is in perfect LD with rs45499402.","sentence":"Allele T is associated with decreased response to allopurinol as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4892970","article_title":"Disposition Kinetics and Metabolism of Nicotine and Cotinine in African American smokers: Impact of CYP2A6 Genetic Variation and Enzymatic Activity","article_path":"articles/PMC4892970.md","variant_annotation_id":1447982613,"variant_haplotypes":"CYP2A6*4, CYP2A6*9, CYP2A6*17, CYP2A6*26","gene":"CYP2A6","drugs":"nicotine","pmid":27035242,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"The two slowest metabolizers in the study (*4/*17 and *9/*26 genotypes) showing much lower cotinine levels than expected for their daily nicotine intake, which is the result of not converting much nicotine to cotinine.","sentence":"CYP2A6 *4/*17 + *9/*26 are associated with decreased metabolism of nicotine.","alleles":"*4/*17 + *9/*26","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10648962","article_title":"Dolutegravir pharmacokinetics in Ugandan patients with TB and HIV receiving standard- versus high-dose rifampicin","article_path":"articles/PMC10648962.md","variant_annotation_id":1452279582,"variant_haplotypes":"UGT1A1*1, UGT1A1*28, UGT1A1*36","gene":"UGT1A1","drugs":"dolutegravir","pmid":37850738,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"Genetic polymorphism of UGT1A1 did not significantly affect dolutegravir pharmacokinetics.\"","sentence":"UGT1A1 *1/*28 + *1/*36 + *28/*28 is not associated with metabolism of dolutegravir in people with HIV Infections and Tuberculosis as compared to UGT1A1 *1/*1.","alleles":"*1/*28 + *1/*36 + *28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease, Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6328871","article_title":"Effects of OPRM1 and ABCB1 gene polymorphisms on the analgesic effect and dose of sufentanil after thoracoscopic-assisted radical resection of lung cancer","article_path":"articles/PMC6328871.md","variant_annotation_id":1450932030,"variant_haplotypes":"rs563649","gene":"OPRM1","drugs":"sufentanil","pmid":30455395,"phenotype_category":"Dosage","significance":"no","notes":"No significant association between this variant and consumption of sufentanil. While this variant is described in the text as a C>T SNP, it is displayed in the table as a G>A SNP. dbSNP confirms that this is a C>T SNP so it has been assumed that this is an error in the tables. As a result, information from the tables has been assigned to the following genotypes: AA=CC, AG=CT and GG=TT.","sentence":"Allele C is not associated with dose of sufentanil in people with Lung Neoplasms and Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"\"Other:Lung Neoplasms\", \"Other:Pain, Postoperative\"","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165208,"variant_haplotypes":"rs2289669","gene":"SLC47A1","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with exposure to metformin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4630174","article_title":"CYP2D6 Haplotype Determination Using Long Range Allele-Specific Amplification: Resolution of a Complex Genotype and a Discordant Genotype Involving the CYP2D6*59 Allele","article_path":"articles/PMC4630174.md","variant_annotation_id":1446899262,"variant_haplotypes":"CYP2D6*4, CYP2D6*59","gene":"CYP2D6","drugs":"dextromethorphan","pmid":26335396,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Subject with the *4/*59 diplotype had a dextromethorphan/dextrorphan urinary metabolic ratio of 0.165 with was consistent with intermediate metabolizer phenotype.","sentence":"CYP2D6 *4/*59 (assigned as intermediate metabolizer phenotype) is associated with decreased metabolism of dextromethorphan.","alleles":"*4/*59","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3611944","article_title":"Pharmacogenetic association with early response to intravitreal ranibizumab for age-related macular degeneration in a Korean population","article_path":"articles/PMC3611944.md","variant_annotation_id":1183682066,"variant_haplotypes":"rs833069","gene":"VEGFA","drugs":"ranibizumab","pmid":23559864,"phenotype_category":"Efficacy","significance":"no","notes":"Age-related macular degeneration. No significant differences in best-corrected visual acuity (BCVA) changes were seen between baseline and 3 or 6 months of treatment between any of the genotypes.","sentence":"Allele C is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166009,"variant_haplotypes":"rs12302749","gene":"SPSB2","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5541380","article_title":"Functional Mu Opioid Receptor Polymorphism (OPRM1 A118G) Associated With Heroin Use Outcomes in Caucasian Males: A Pilot Study","article_path":"articles/PMC5541380.md","variant_annotation_id":1450822015,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"heroin","pmid":25911999,"phenotype_category":"Toxicity","significance":"no","notes":"No association between this variant and heroin use in the last month.","sentence":"Allele G is not associated with dose of heroin in men Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC7993015","article_title":"Genetic Variant in CHRNA5 and Response to Varenicline and Combination Nicotine Replacement in a randomized placebo-controlled trial","article_path":"articles/PMC7993015.md","variant_annotation_id":1451347701,"variant_haplotypes":"rs16969968","gene":"CHRNA5","drugs":"varenicline","pmid":32602170,"phenotype_category":"Efficacy","significance":"yes","notes":"compared to placebo. In African American smokers, varenicline was more effective in smokers of GA/AA genotypes vs. placebo. There was no significant genotype-by-treatment interaction in smokers of European ancestry.","sentence":"Genotypes AA + AG are associated with increased response to varenicline in people with Tobacco Use Disorder.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4943390","article_title":"Tamoxifen Dose Escalation in Patients With Diminished CYP2D6 Activity Normalizes Endoxifen Concentrations Without Increasing Toxicity","article_path":"articles/PMC4943390.md","variant_annotation_id":1448110410,"variant_haplotypes":"CYP2D6 normal metabolizer and ultrarapid metabolizer","gene":"CYP2D6","drugs":"endoxifen","pmid":27226358,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"at baseline before genotype guided dosing. In this CYP2D6 genotype-guided study, women who were initially receiving 20 mg/day of tamoxifen, were given 40 mg/day if they were CYP2D6 poor (N=17) or intermediate metabolizers (N=212), but remained on the 20 mg/day dose if they were CYP2D6 extensive (N=119) or ultra-metabolizer phenotype (N=5). The UM/PM had significantly higher concentrations of endoxifen at baseline as compared to the IM and PM phenotypes.","sentence":"CYP2D6 normal metabolizer and ultra-metabolizer are associated with increased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 poor metabolizers and intermediate metabolizers.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer and ultrarapid metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer and poor metabolizer"} +{"pmcid":"PMC2352037","article_title":"Effect of deletion polymorphism of angiotensin converting enzyme gene on progression of diabetic nephropathy during inhibition of angiotensin converting enzyme: observational follow up study","article_path":"articles/PMC2352037.md","variant_annotation_id":982032925,"variant_haplotypes":"rs1799752","gene":"ACE","drugs":"captopril","pmid":8806248,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the del/del genotype had steeper decline in glomerular filtration rate (GFR) compared to the other genotypes, indicating a decline in renal function.","sentence":"Genotype del/del is associated with increased resistance to captopril in people with Diabetes Mellitus as compared to genotypes ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC + ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del.","alleles":"del/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC + ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del","comparison_metabolizer_types":null} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451114014,"variant_haplotypes":"rs16918941","gene":"OPRK1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele A is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5520553","article_title":"Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma","article_path":"articles/PMC5520553.md","variant_annotation_id":1448820497,"variant_haplotypes":"rs10052999","gene":"C6","drugs":"tacrolimus","pmid":28685716,"phenotype_category":"Metabolism/PK","significance":"no","notes":"When considering RECIPIENT genotype - no significant difference in concentration/dose ratio was seen between those with the CT genotype and those with the CC or TT genotypes at weeks 1-4 of treatment. Patients with hepatocellular carcinoma.","sentence":"Genotype CT is not associated with dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotypes CC + TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451973760,"variant_haplotypes":"rs6809699","gene":"P2RY12","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"yes","notes":"was significant in Recessive and co-dominant models. This was also seen when examined in just CYP2C19*1/*1 in discovery cohort but not whole cohort. Paper talks about using 2 cohorts, one for discovery and one for replication but it is not explicit about which are in which table of results. \"Patients carrying the P2RY12 rs6809699 CA genotype or the rs6809699 A allele also showed significantly increased risk of CR (CA vs CC genotype: OR 2.270, 95% CI 1.019\u20135.059, P\u2009=\u20090.045; CA\u2009+\u2009AA vs CC genotype: OR 2.636, 95% CI 1.199\u20135.796; P\u2009=\u20090.016). \"","sentence":"Genotypes AA + AC is associated with increased resistance to clopidogrel in people with Coronary Disease as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756042,"variant_haplotypes":"rs3759126","gene":"AQP2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele A is not associated with response to platinum in people with Lung Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6423619","article_title":"Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19","article_path":"articles/PMC6423619.md","variant_annotation_id":1450935725,"variant_haplotypes":"rs61311738","gene":"CYP2C19","drugs":"mephenytoin","pmid":30745309,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In vitro analysis showed that intrinsic clearance of S-mephenytoin by CYP2C19 protein containing the T allele was 0.7% of that of the WT protein. Variant referred to as 518C>T in the paper.","sentence":"Allele T is associated with decreased clearance of mephenytoin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7308427","article_title":"Polymorphisms of SLC19A1 80 G>A, MTHFR 677 C>T, and Tandem TS Repeats Influence Pharmacokinetics, Acute Liver Toxicity, and Vomiting in Children With Acute Lymphoblastic Leukemia Treated With High Doses of Methotrexate","article_path":"articles/PMC7308427.md","variant_annotation_id":1451552752,"variant_haplotypes":"rs45445694","gene":"TYMS","drugs":"methotrexate","pmid":32612964,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Variant mapped to rs45445694 by PharmGKB.","sentence":"Genotype (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 is associated with increased steady-state concentration of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 + (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3.","alleles":"(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"steady-state concentration of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 + (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3","comparison_metabolizer_types":null} +{"pmcid":"PMC5461999","article_title":"Lumacaftor/Ivacaftor Treatment of Patients with Cystic Fibrosis Heterozygous for F508del\u2010CFTR","article_path":"articles/PMC5461999.md","variant_annotation_id":1449192508,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor, lumacaftor","pmid":27898234,"phenotype_category":"Efficacy","significance":"yes","notes":"F508del allele. All study participants had the F508del allele on one allele and a second that was predicted to not respond to ivacaftor/lumacaftor treatment. Two out of five outcomes showed a significant improvement following 56 days of ivacaftor/lumacaftor treatment.","sentence":"Genotype CTT/del is associated with response to ivacaftor and lumacaftor in people with Cystic Fibrosis.","alleles":"CTT/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995807,"variant_haplotypes":"rs2274755","gene":"MMP9","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757038,"variant_haplotypes":"rs699664","gene":"GGCX","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele C is not associated with dose of warfarin in people with heart valve replacement as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3130093","article_title":"Nerve growth factor beta polypeptide (NGFB) genetic variability: association with the methadone dose required for effective maintenance treatment","article_path":"articles/PMC3130093.md","variant_annotation_id":769182369,"variant_haplotypes":"rs2239622","gene":"NGF","drugs":"methadone","pmid":21358750,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype AA is associated with decreased dose of methadone in people with Opioid-Related Disorders as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896253,"variant_haplotypes":"rs1210638","gene":"DGCR5","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele C is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":982043719,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"no","notes":"No significant change in the likelihood of a man reaching a target mean arterial pressure concentration of <= 92 mmHg or <= 107 mmHg was seen between genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is not associated with response to amlodipine in men with Hypertension as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC11773116","article_title":"Exploring the contribution of genetic variants to high sunitinib exposure in patients with cancer","article_path":"articles/PMC11773116.md","variant_annotation_id":1452564180,"variant_haplotypes":"rs2231137","gene":"ABCG2","drugs":"sunitinib","pmid":39107874,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\" Of note, rs2231137, 1 of the top SNVs reported in previous studies located on the ABCG2 gene, showed a P-value of 6.52 \u0003 x10-6. While above our predefined thresholds, this does not completely exclude involvement of ABCG2 in sunitinib PK, though the effect size will be small and not likely to be clinically relevant.\" Assumed that minor allele is associated with increased concentration/toxicity.","sentence":"Allele T is associated with increased concentrations of sunitinib in people with Carcinoma, Renal Cell or Gastrointestinal Stromal Tumors as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Renal Cell Carcinoma, Other:Gastrointestinal Stromal Tumors","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3081375","article_title":"Tamoxifen Metabolite Concentrations, CYP2D6 Genotype and Breast Cancer Outcomes","article_path":"articles/PMC3081375.md","variant_annotation_id":1444935629,"variant_haplotypes":"CYP2D6 poor metabolizers","gene":"CYP2D6","drugs":"4-hydroxytamoxifen, endoxifen","pmid":21430657,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Concentrations of endoxifen, 4-hydroxytamoxifen, and N-desmethyltamoxifen were strongly associated with CYP2D6 phenotype. No evidence for a linear relationship between the concentration levels of tamoxifen and/or any of the measured metabolites and breast cancer outcomes. Increased risk of breast cancer recurrence was found for patients with endoxifen concentrations in the bottom quintile of the distribution. Participants were diagnosed with breast cancer and completed primary treatment. Included were patients with ER-positive tumor who had been taking tamoxifen for at least 4 month. no info on menopausal status. Genotyped using AmpliChip CYP450 Test. (i) nonfunctional (PM) alleles include CYP2D6*3, *4, *5, *6, *7, *8, *11, *14A, *15, *19, *20, and *40, and the *4XN gene duplication; (ii) reduced function (intermediate metabolizer) alleles include CYP2D6*9, *10, *17, *29, *36, and *41, and gene duplications *10XN, *17XN, and *41XN; (iii) fully functional (extensive metabolizer or EM) alleles include CYP2D6*1, *2, and *35 and (iv) increased function (ultrarapid metabolizer) phenotype alleles include gene duplications such as CYP2D6*1XN, *2XN, and *35XN. [pre-menopausal][post-menopausal] [adjuvant] [DNA source: blood] [HWE: yes]","sentence":"CYP2D6 poor metabolizer is associated with decreased concentrations of 4-hydroxytamoxifen or endoxifen in women with Breast Neoplasms as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC11850035","article_title":"Analgesic therapy failure in a COMT HPS/HPS diplotype carrier heterozygous for the CYP2D6 *4 allele with fibromyalgia\u2014a case report","article_path":"articles/PMC11850035.md","variant_annotation_id":1452865980,"variant_haplotypes":"COMT low activity","gene":"COMT","drugs":"acetaminophen, duloxetine, ibuprofen, oxycodone, pregabalin","pmid":39995492,"phenotype_category":"Efficacy","significance":"no","notes":"\"40-year-old female patient was diagnosed with chronic lumbalgia and fibromyalgia\" \" insufficient pain relief\" \"COMT HPS/HPS diplotype carrier implicating lower COMT activity and higher pain sensitivity\" Genotypes from table 2: rs6269 AA, rs4633 CC, rs4818 CC, rs4680 GG and CYP2D6 *1/*4","sentence":"COMT low activity is associated with decreased clinical benefit to acetaminophen, duloxetine, ibuprofen, oxycodone and pregabalin in women with Fibromyalgia and Low Back Pain.","alleles":null,"specialty_population":null,"metabolizer_types":"low activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Other:Fibromyalgia, Other:Low Back Pain","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5391214","article_title":"Association of genetic variations with pharmacokinetics and lipid-lowering response to atorvastatin in healthy Korean subjects","article_path":"articles/PMC5391214.md","variant_annotation_id":1451352861,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"atorvastatin","pmid":28435225,"phenotype_category":"Efficacy","significance":"yes","notes":"This variant was associated with changes in total cholesterol and LDL-C at 48 hours after atorvastatin administration. The decrease in total cholesterol and LDL-C was smaller in those with G/A (n=7) than in the 43 subjects with G/G.","sentence":"Genotype AG is associated with decreased response to atorvastatin in healthy individuals as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2883666","article_title":"Replicated Association between an IL28B Gene Variant and a Sustained Response to Pegylated Interferon and Ribavirin","article_path":"articles/PMC2883666.md","variant_annotation_id":981501273,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":20176026,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"Treatment was with peginterferon- type was not specified. Authors noted that small sample size of Black subjects limited power to detect an association.","sentence":"Allele C is not associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b or ribavirin in people with Hepatitis C, Chronic as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550241,"variant_haplotypes":"rs3819479","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele A is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6489578","article_title":"VKORC1 variants as significant predictors of warfarin dose in Emiratis","article_path":"articles/PMC6489578.md","variant_annotation_id":1451589737,"variant_haplotypes":"rs8050894","gene":"VKORC1","drugs":"warfarin","pmid":31114289,"phenotype_category":"Dosage","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes CG + GG are associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4025175","article_title":"The influence of CYP3A, PPARA, and POR genetic variants on the pharmacokinetics of tacrolimus and cyclosporine in renal transplant recipients","article_path":"articles/PMC4025175.md","variant_annotation_id":1184470386,"variant_haplotypes":"rs1057868","gene":"POR","drugs":"cyclosporine","pmid":24658827,"phenotype_category":"Metabolism/PK","significance":"no","notes":"A single steady-state concentration of cyclosporine was collected for each patient 2-7 wks post-transplant and compared to dose of cyclosporine administered to patients at Oslo University Hospital. Reported concentrations are \"steady-state dose-adjusted concentration\" of cyclosporine. Steady-state is defined as at least 3 days after last dose adjustment for Tac and 4 days for cyclosporine.","sentence":"Allele T is not associated with increased metabolism of cyclosporine in people with Kidney Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4591203","article_title":"Escitalopram pharmacogenetics: CYP2C19 relationships with dosing and clinical outcomes in Autism Spectrum Disorder","article_path":"articles/PMC4591203.md","variant_annotation_id":1446895857,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"escitalopram","pmid":26313485,"phenotype_category":"Dosage","significance":"no","notes":"No difference was found between intermediate/poor metabolizer vs extensive metabolizer or ultra rapid metabolizer. *3 was genotyped but no carrier identified. *2/*2 N=1 and was grouped with *1/*2. *1/*17 and *17/*17 were grouped together as UM. Final doses (mean \u00b1 SD, mg/day) across metabolizer groups were ultrarapid metabolizers (12.5 \u00b1 7.8), extensive metabolizers (15.4 \u00b1 6.4), and reduced metabolizers (16.7 \u00b1 5.8). Ultrarapid metabolizers showed a slower rate of change in dose over time.","sentence":"CYP2C19 *1/*2 + *2/*2 are not associated with dose of escitalopram in people with Autistic Disorder as compared to CYP2C19 *1/*1.","alleles":"*1/*2 + *2/*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Autism","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC8222836","article_title":"Genetic variants related to successful migraine prophylaxis with verapamil","article_path":"articles/PMC8222836.md","variant_annotation_id":1452315160,"variant_haplotypes":"rs17844444","gene":"PCDHB6","drugs":"verapamil","pmid":33829662,"phenotype_category":"Efficacy","significance":"yes","notes":"\"There are 3 highly significant SNPs (p\u2010value < 0.008) in both the arithmetic and percentage change models: rs2230433 within the Integrin Subunit Alpha L gene (ITGAL) [OMIM#153370], rs17844444 in Protocadherin Beta 6 gene (PCDHB6) [OMIM#606332] and rs3733694 in Protocadherin Beta 7 gene (PCDHB7) [OMIM#606333].\" \"rs17844444 (PCDHB6) and rs3733694 (PCDHB7), the minor alleles predicted non\u2010response to verapamil.\"","sentence":"Allele A is associated with decreased clinical benefit to verapamil in people with Migraine NOS as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3116045","article_title":"The Contribution of Common CYP2A6 Alleles to Variation in Nicotine Metabolism Among European Americans","article_path":"articles/PMC3116045.md","variant_annotation_id":1451675840,"variant_haplotypes":"CYP2A6*1, CYP2A6*9, CYP2A6*12, CYP2A6*38, CYP2A6*46","gene":"CYP2A6","drugs":"nicotine","pmid":21597399,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Note that this study uses the *1B allele as the 'reference allele' (subsequently reassigned as the *46 allele by PharmVar) and that the *38 allele is described in the paper as '*1D-Y351H'.","sentence":"CYP2A6 *1 + *9 + *12 + *38 are associated with decreased metabolism of nicotine as compared to CYP2A6 *46.","alleles":"*1 + *9 + *12 + *38","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*46","comparison_metabolizer_types":null} +{"pmcid":"PMC7431691","article_title":"CYP3A5 Gene-Guided Tacrolimus Treatment of Living-Donor Egyptian Kidney Transplanted Patients","article_path":"articles/PMC7431691.md","variant_annotation_id":1451554440,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":32848803,"phenotype_category":"Dosage","significance":"yes","notes":"Mean starting dose was 45.96% higher in *1 carriers than in *3/*3 patients. One-year mean dose was 85.55% higher in *1 carriers compared to *3/*3.","sentence":"CYP3A5 *1/*1 + *1/*3 are associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896143,"variant_haplotypes":"rs4615376","gene":"PHACTR1","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4669157","article_title":"HLA-G 3\u2019UTR Polymorphisms Impact the Prognosis of Stage II-III CRC Patients in Fluoropyrimidine-Based Treatment","article_path":"articles/PMC4669157.md","variant_annotation_id":1447678756,"variant_haplotypes":"rs1063320","gene":"HLA-G","drugs":"capecitabine, fluorouracil","pmid":26633805,"phenotype_category":"Efficacy","significance":"no","notes":"The authors examined disease free survival (DFS) as well as overall survival (OS). Neither were significantly associated with any genotype.","sentence":"Genotype CC is not associated with response to capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6489578","article_title":"VKORC1 variants as significant predictors of warfarin dose in Emiratis","article_path":"articles/PMC6489578.md","variant_annotation_id":1451589723,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":31114289,"phenotype_category":"Dosage","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes CT + TT are associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436560,"variant_haplotypes":"rs7311358","gene":"SLCO1B3","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703675,"variant_haplotypes":"rs4431329","gene":"FBXL17","drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in diastolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele T is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5006145","article_title":"Impact of CYP2C9, VKORC1 and CYP4F2 genetic polymorphisms on maintenance warfarin dosage in Han-Chinese patients: A systematic review and meta-analysis","article_path":"articles/PMC5006145.md","variant_annotation_id":1449260063,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":27617219,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2757655","article_title":"Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European American and African Americans","article_path":"articles/PMC2757655.md","variant_annotation_id":1447519665,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":18466099,"phenotype_category":"Dosage","significance":"yes","notes":"in European Americans and African americans.","sentence":"Genotypes AA + AG are associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715490,"variant_haplotypes":"rs6851533","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Efficacy","significance":"no","notes":"There was no significant difference in PPLpost-PPLpre between the genotype groups.","sentence":"Allele C is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5887212","article_title":"Cholinergic receptor nicotinic alpha 5 subunit polymorphisms are associated with smoking cessation success in women","article_path":"articles/PMC5887212.md","variant_annotation_id":1450928764,"variant_haplotypes":"rs2036527","gene":"CHRNA5","drugs":"bupropion, nicotine, varenicline","pmid":29621993,"phenotype_category":"Efficacy","significance":"yes","notes":"Women with the AA or AG genotypes were more likely to be abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation compared to those with the GG genotype.","sentence":"Genotypes AA + AG are associated with increased response to bupropion, nicotine or varenicline in women with Tobacco Use Disorder as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703611,"variant_haplotypes":"rs11189015","gene":"SLIT1","drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in systolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele C is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7351433","article_title":"Polymorphisms within methotrexate pathway genes: Relationship between plasma methotrexate levels, toxicity experienced and outcome in pediatric acute lymphoblastic leukemia","article_path":"articles/PMC7351433.md","variant_annotation_id":1451553477,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"methotrexate","pmid":32695297,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3944116","article_title":"Effect of CYP3A4*22, CYP3A5*3, and CYP3A Combined Genotypes on Cyclosporine, Everolimus, and Tacrolimus Pharmacokinetics in Renal Transplantation","article_path":"articles/PMC3944116.md","variant_annotation_id":1184470932,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":24522145,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Carriers of the *1 allele had 53% higher clearance as compared with non-carriers. CYP3A5*3 explained 5.5% of the variability in tacrolimus clearance.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased clearance of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC4470685","article_title":"Genome-Wide Association Study Identifies Novel Pharmacogenomic Loci For Therapeutic Response to Montelukast in Asthma","article_path":"articles/PMC4470685.md","variant_annotation_id":1444929661,"variant_haplotypes":"rs953977","gene":null,"drugs":"montelukast","pmid":26083242,"phenotype_category":"Efficacy","significance":"no","notes":"This allele showed a trend toward association but not at the genome wide significance level. Study Cohort: Discovery cohort (N=133): American Lung Association Asthma Clinical Research Center (ALA-ACRC)-supported trials, the Leukotriene Modifier Or Corticosteroid or Corticosteroid-Salmeterol Trial (LOCCS) and Effectiveness of Low Dose Theophylline as Add On Therapy for the Treatment of Asthma (LODO) trials. Replication cohort (N=184): Childhood Asthma Research and Education (CARE) Network- Characterizing the Response to a LT Receptor Antagonist and an Inhaled Corticosteroid and Pediatric Asthma Controller Trial (CLIC and PACT).","sentence":"Allele T is associated with increased response to montelukast in people with Asthma as compared to allele G.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165148,"variant_haplotypes":"rs34059508","gene":"SLC22A1","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with exposure to metformin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6171340","article_title":"Pharmacogenetics of Antiepileptic Drug Efficacy in Childhood Absence Epilepsy","article_path":"articles/PMC6171340.md","variant_annotation_id":1451134040,"variant_haplotypes":"rs61734410","gene":"CACNA1H","drugs":"ethosuximide","pmid":28165634,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by minor allele (T) frequency in not\u2013seizure\u2010free vs seizure-free children.","sentence":"Allele T is associated with decreased clinical benefit to ethosuximide in children with Epilepsy as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Efficacy:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3061841","article_title":"The Relation Between CYP2C19 Genotype and Phenotype in Stented Patients on Maintenance Dual Antiplatelet Therapy","article_path":"articles/PMC3061841.md","variant_annotation_id":769245456,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"aspirin, clopidogrel","pmid":21392617,"phenotype_category":"Efficacy","significance":"yes","notes":"These patients had coronary arterial stenting. The comparison was that ADP-induced ex vivo platelet aggregation was higher in (AA + AG) compared to GG, but the template does not accommodate this. *2 SNP. [stat_test: chi-square]","sentence":"Allele A is associated with decreased response to aspirin and clopidogrel in people with Coronary Artery Disease as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2641037","article_title":"Absorption of Montelukast is Transporter Mediated: a Common Variant of OATP2B1 is Associated with Reduced Plasma Concentrations and Poor Response","article_path":"articles/PMC2641037.md","variant_annotation_id":699642204,"variant_haplotypes":"rs12422149","gene":"SLCO2B1","drugs":"montelukast","pmid":19151602,"phenotype_category":"Efficacy, Metabolism/PK","significance":"yes","notes":"It's also associated with significantly reduced plasma concentration of monteleukast.","sentence":"Genotype AG is associated with decreased response to montelukast in people with Asthma as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896031,"variant_haplotypes":"rs1438692","gene":"AFAP1L1","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC9841299","article_title":"Impact of NFIB and CYP1A variants on clozapine serum concentration\u2014A retrospective naturalistic cohort study on 526 patients with known smoking habits","article_path":"articles/PMC9841299.md","variant_annotation_id":1451893991,"variant_haplotypes":"rs2472297","gene":"CYP1A1","drugs":"clozapine","pmid":36152308,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"significance is only given for combination of both CYP1A rs2472297 C>T and NFIB rs28379954 T>C genotypes","sentence":"Genotype CT is associated with decreased dose-adjusted trough concentrations of clozapine in people with Tobacco Use Disorder as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5101708","article_title":"Low heritability in pharmacokinetics of talinolol: a pharmacogenetic twin study on the heritability of the pharmacokinetics of talinolol, a putative probe drug of MDR1 and other membrane transporters","article_path":"articles/PMC5101708.md","variant_annotation_id":1448612414,"variant_haplotypes":"rs17143212","gene":"ABCB5","drugs":"talinolol","pmid":27825374,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was a twin study of monozygotic and dizygotic twins.","sentence":"Allele T is not associated with clearance of talinolol in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":1448634923,"variant_haplotypes":"rs255100","gene":"CRHR2","drugs":"salbutamol","pmid":18408560,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with decreased response to salbutamol in people with Asthma as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928193,"variant_haplotypes":"rs1799978","gene":"DRD2","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to risperidone in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5192124","article_title":"Population Pharmacokinetics and Pharmacogenetics Analysis of Rilpivirine in HIV-1-Infected Individuals","article_path":"articles/PMC5192124.md","variant_annotation_id":1448423597,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"rilpivirine","pmid":27799217,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with clearance of rilpivirine in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934461,"variant_haplotypes":"rs869312146","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the T allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Met187Ile in the paper.","sentence":"Allele T is associated with increased response to migalastat in people with Fabry Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC8238023","article_title":"Novel associations between CYP2B6 polymorphisms, perioperative methadone metabolism and clinical outcomes in children","article_path":"articles/PMC8238023.md","variant_annotation_id":1451477260,"variant_haplotypes":"CYP2B6*6","gene":"CYP2B6","drugs":"methadone","pmid":34100292,"phenotype_category":"Toxicity","significance":"not stated","notes":"prospective study of methadone in children undergoing major surgery. \"CYP2B6 poor metabolizers (*6/*6) had >twofold lower R- and S-methadone metabolites to methadone ratio compared with normal and rapid metabolizers in adolescents who received multiple doses of methadone intraoperatively and postoperatively. \"","sentence":"CYP2B6 *6/*6 is associated with decreased metabolism of methadone in children with Pain, Postoperative and Scoliosis.","alleles":"*6/*6","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"\"Other:Pain, Postoperative\", \"Other:Scoliosis\"","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10278212","article_title":"The Impact of Single Nucleotide Polymorphisms on the Pharmacokinetics of Tacrolimus in Kidney Allograft Recipients of Northern-West, Iran","article_path":"articles/PMC10278212.md","variant_annotation_id":1452140060,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":37342387,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented to plus chromosomal strand. There were no *1/*1 (TT) observed. \" There was a significant difference when C/D ratios of homozygote CYP3A5 *3/*3 carriers were compared between 2 and 8 weeks\"","sentence":"Genotype CT is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4636889","article_title":"Polymorphisms within the human leucocyte antigen-E gene and their associations with susceptibility to rheumatoid arthritis as well as clinical outcome of anti-tumour necrosis factor therapy","article_path":"articles/PMC4636889.md","variant_annotation_id":1447947763,"variant_haplotypes":"rs1059150","gene":"ATP5F1E","drugs":"adalimumab, certolizumab pegol, etanercept, glucocorticoids, infliximab, methotrexate","pmid":26307125,"phenotype_category":"Efficacy","significance":"yes","notes":"Response measured after 12 weeks of treatment. Alleles described as HLA-E *01:01 and *01:03.","sentence":"Genotype GG is associated with decreased response to adalimumab, certolizumab pegol, etanercept, glucocorticoids, infliximab or methotrexate in women with Arthritis, Rheumatoid as compared to genotype TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC10666731","article_title":"CYP2C19*17 association with higher plasma 4-hydroxy tamoxifen in Pakistani (estrogen-positive) breast cancer patients","article_path":"articles/PMC10666731.md","variant_annotation_id":1452232920,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"4-hydroxytamoxifen","pmid":37688505,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"For the CYP2C19*17 locus, the median total metabolic ratio of 4-OH-Tam (TMR-4-OH-Tam) was significantly higher in the heterozygous (187.91) (P < 0.001) and mutant (210.90) (P < 0.001) genotypes, compared to the wild-type (122.46) genotypes (Table 4 and Figure 6(A)).\"","sentence":"CYP2C19 *1/*17 + *17/*17 is associated with increased concentrations of 4-hydroxytamoxifen in people with Breast Neoplasms as compared to CYP2C19 *1/*1.","alleles":"*1/*17 + *17/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC11435314","article_title":"An Investigational Study on the Role of CYP2D6, CYP3A4 and UGTs Genetic Variation on Fesoterodine Pharmacokinetics in Young Healthy Volunteers","article_path":"articles/PMC11435314.md","variant_annotation_id":1452617180,"variant_haplotypes":"CYP3A4 intermediate metabolizer","gene":"CYP3A4","drugs":"fesoterodine","pmid":39338398,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The CYP3A4 IMs showed a lower AUC/DW (puv = 0.046; \u03b2 = \u22120.272, R2 =0.410, pmv = 0.047) and higher CL/F (puv = 0.044; \u03b2 = 0.275, R2 =0.409, pmv = 0.045) than the NMs (Table 3).\" The 10 SNPs for CYP3A4 measured are listed in table 5.","sentence":"CYP3A4 intermediate metabolizer is associated with increased clearance of fesoterodine in healthy individuals as compared to CYP3A4 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5903228","article_title":"The impact of diuretic use and ABCG2 genotype on the predictive performance of a published allopurinol dosing tool","article_path":"articles/PMC5903228.md","variant_annotation_id":1449166160,"variant_haplotypes":"rs11942223","gene":"SLC2A9","drugs":"allopurinol","pmid":29341237,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of allopurinol in people with Gout as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Gout","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4137828","article_title":"Relationship of CYP3A5 genotype and ABCB1 diplotype to tacrolimus disposition in Brazilian kidney transplant patients","article_path":"articles/PMC4137828.md","variant_annotation_id":1184470883,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":24528196,"phenotype_category":"Dosage","significance":"yes","notes":"3 to 12 months post-transplant. Using chi-squared analysis.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC9501307","article_title":"Role of IL6R Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis","article_path":"articles/PMC9501307.md","variant_annotation_id":1451894460,"variant_haplotypes":"rs4845625","gene":"IL6R","drugs":"tocilizumab","pmid":36145690,"phenotype_category":"Efficacy","significance":"yes","notes":"Response measured using Disease activity score including 28 joints (DAS28), a satisfactory European League Against Rheumatism (EULAR) response, and low disease activity (LDA) achievement.","sentence":"Genotypes CT + TT is associated with increased response to tocilizumab in people with Arthritis, Rheumatoid as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4300289","article_title":"Associations of OPRM1 A118G and Alcohol Sensitivity with Intravenous Alcohol Self-Administration in Young Adults","article_path":"articles/PMC4300289.md","variant_annotation_id":1184748428,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":25039301,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Individuals with the AG or GG genotype achieved significantly higher mean peak breath alcohol concentration as compared to those with the AA genotype. Those with the AG or GG genotype also showed significantly more post-priming drink requests compared to those with the AA genotype. Genotype accounted for 8% of the variance in peak breath alcohol concentration. Participants self-administered alcohol intravenously (6% ethanol solution) over a period of 2 hours.","sentence":"Genotypes AG + GG is associated with increased concentrations of ethanol in healthy individuals as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6595468","article_title":"Relevance of CYP2B6 and CYP2D6 genotypes to methadone pharmacokinetics and response in the OPAL study","article_path":"articles/PMC6595468.md","variant_annotation_id":1450374130,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"methadone","pmid":30907440,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was no significant association between this variant and cessation of opioid use.","sentence":"Allele G is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5768901","article_title":"Tezacaftor/Ivacaftor in Subjects with Cystic Fibrosis and F508del/F508del-CFTR or F508del/G551D-CFTR","article_path":"articles/PMC5768901.md","variant_annotation_id":1449192662,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor, tezacaftor","pmid":28930490,"phenotype_category":"Efficacy","significance":"yes","notes":"F508del allele. Study has multiple phases - a tezacaftor dose escalation phase and an efficacy testing phase using 100mg tezacaftor and 150mg ivacaftor. Significant improvements in sweat chloride level, ppFEV1 and CFQ-R scores were observed in the dose escalation phase however only sweat chloride levels showed a significant improvement in the efficacy testing phase.","sentence":"Genotype del/del is associated with response to ivacaftor and tezacaftor in people with Cystic Fibrosis.","alleles":"del/del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11552228","article_title":"CYP3A4*1B and CYP3A5*3 SNPs significantly impact the response of Egyptian candidates to high-intensity statin therapy to atorvastatin","article_path":"articles/PMC11552228.md","variant_annotation_id":1452706160,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"atorvastatin","pmid":39523378,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Atorvastatin plasma levels (in ng/ml) were greater in carriers of the T/T genotype than in carriers of the other genotypes (C/T) and (C/C) (P value\u2009<\u20090.05). The plasma levels were 7.59\u2009\u00b1\u20092.69 for the T/T genotype and 3.39\u2009\u00b1\u20091.03 and 3.08\u2009\u00b1\u20090.82 for the C/T and C/C genotypes, respectively (Table 5).\"","sentence":"Genotype TT is associated with increased concentrations of atorvastatin in people with Cardiovascular Disease or Hyperlipidemias as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cardiovascular Disease, Other:Hyperlipidemias","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4456129","article_title":"Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity","article_path":"articles/PMC4456129.md","variant_annotation_id":1444695427,"variant_haplotypes":"rs1800497","gene":"ANKK1","drugs":"methadone","pmid":25556837,"phenotype_category":"Dosage","significance":"no","notes":"Methadone maintenance dose was not associated with genotype of the SNP but it was correlated to the highest dose ever used. Multiple doses versus single dose, body weight, history of cocaine dependence and ethnicity (Asian>Caucasian>African) were independently associated with methadone dose in multiple regression analysis.","sentence":"Allele A is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340046,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, this variant is associated with 18.1mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"Genotypes CT + TT are associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6960206","article_title":"Nephrotoxicity in a Patient With Inadequate Pain Control: Potential Role of Pharmacogenetic Testing for Cytochrome P450 2D6 and Apolipoprotein L1","article_path":"articles/PMC6960206.md","variant_annotation_id":1451141860,"variant_haplotypes":"CYP2D6*5, CYP2D6*17","gene":"CYP2D6","drugs":"hydrocodone, tramadol","pmid":31969823,"phenotype_category":"Efficacy","significance":"not stated","notes":"Case report of a patient with back pain who reported no analgesic effect of either hydrocodone or tramadol.","sentence":"CYP2D6 *5/*17 is associated with decreased response to hydrocodone or tramadol in women.","alleles":"*5/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11257390","article_title":"UGT1A4*3 polymorphism influences serum concentration and therapeutic effect of lamotrigine for epilepsy treatment: A meta-analysis","article_path":"articles/PMC11257390.md","variant_annotation_id":1452535905,"variant_haplotypes":"UGT1A4*3b","gene":"UGT1A4","drugs":"lamotrigine","pmid":39024362,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Only three studies [28, 29], involving 308 patients, reported the therapeutic efficacy of LTG based on UGT1A4*3 polymorphism. No statistical heterogeneity existed among the article results (I 2 = 0%). There was significant difference between individuals with TT genotype and the control group in the therapeutic effect of LTG (OR: 7.18, 95% [4.01, 12.83], P<0.00001) (Fig 4). The results indicated that the therapeutic effect of LTG with TT genotype was better than that with TG/GG.\" Mapped *3 to *3b since appears to be based on one SNP whereas 3a has 3 SNPs. *3b is rs2011425 G, with the reference T at that locus.","sentence":"UGT1A4 *3b is associated with decreased clinical benefit to lamotrigine.","alleles":"*3b","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3264276","article_title":"Influence of NAT2 Polymorphisms on Sulfamethoxazole Pharmacokinetics in Renal Transplant Recipients","article_path":"articles/PMC3264276.md","variant_annotation_id":981477848,"variant_haplotypes":"NAT2*4, NAT2*6, NAT2*7, NAT2*16","gene":"NAT2","drugs":"sulfamethoxazole","pmid":22106207,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As measured by plasma sulfamethoxazole AUC 0-24. Originally annotated as \"compared to NAT2 *5D/*6B + *6B/*6B + *6B/*7A + *7A/*7A (assigned as slow acetylator phenotype)\". Please note; this was combined analysis of rapid acetylators vs slow acetylators. Slow acetylators; genotype *5/*6, *6/*6, *6/*7, *7/*7). Rapid acetylators; genotype *4/*4. There was no significant difference with intermediate acetylators. Genotyped 3 SNPs; *5 (T341C, rs1801280), *6 (G590A, rs1799930), *7 (G857A, rs1799931).; The arylamine N-acetyltransferases (NATs) database was transitioned into the PharmVar database in March 2024. The alleles in this annotation are mapped as following: NAT2*5D under the *16 core allele; NAT2*6B under the *6 core allele; NAT2*7A under the *7 core allele.","sentence":"NAT2 *4/*4 (assigned as rapid acetylator phenotype) is associated with increased metabolism of sulfamethoxazole in people with Kidney Transplantation as compared to NAT2 *16/*6 + *6/*6 + *6/*7 + *7/*7 (assigned as slow acetylator phenotype) .","alleles":"*4/*4","specialty_population":null,"metabolizer_types":"rapid acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*16/*6 + *6/*6 + *6/*7 + *7/*7","comparison_metabolizer_types":"slow acetylator"} +{"pmcid":"PMC4220464","article_title":"Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins","article_path":"articles/PMC4220464.md","variant_annotation_id":1184997420,"variant_haplotypes":"rs10455872","gene":"LPA","drugs":"hmg coa reductase inhibitors","pmid":25350695,"phenotype_category":"Efficacy","significance":"yes","notes":"Carriers of this variant respond to statins with a 5.9% smaller LDL-C lowering per minor allele compared with non-carriers.","sentence":"Allele G is associated with decreased response to hmg coa reductase inhibitors as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3567337","article_title":"Genome-wide study of methotrexate clearance replicates SLCO1B1","article_path":"articles/PMC3567337.md","variant_annotation_id":981483665,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"methotrexate","pmid":23233662,"phenotype_category":"Efficacy, Toxicity, Metabolism/PK","significance":"yes","notes":"This association was found in patients already stratified for rs4149056 genotype.","sentence":"Allele A is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7398416","article_title":"Pharmacogenetic interactions between antiretroviral drugs and vaginally-administered hormonal contraceptives","article_path":"articles/PMC7398416.md","variant_annotation_id":1451131980,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":32106141,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Analysis was done as CYP2B6 slow metabolizer genotypes grouping (15582CC-516TT-983TT; 9: 15582CC-516GT- 983CT; or 10: 15582CC-516GG-983CC), which were associated with higher plasma efavirenz log10 AUC0\u20138 hours, log10 maximum concentration (Cmax), and log10 minimum concentration (Cmin) values at days 0 and 21.","sentence":"Genotype TT is associated with decreased metabolism of efavirenz in women with HIV Infections as compared to genotype GG.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104961,"variant_haplotypes":"rs1718119","gene":"P2RX7","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5898372","article_title":"Genotypic and Phenotypic Factors Influencing Drug Response in Mexican Patients With Type 2 Diabetes Mellitus","article_path":"articles/PMC5898372.md","variant_annotation_id":1449310690,"variant_haplotypes":"rs316019","gene":"SLC22A2","drugs":"sulfonamides, urea derivatives","pmid":29681852,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to sulfonamides, urea derivatives in people with Diabetes Mellitus as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3637851","article_title":"A phase I/II pharmacokinetic and pharmacogenomic study of calcitriol in combination with cisplatin and docetaxel in advanced non-small-cell lung cancer","article_path":"articles/PMC3637851.md","variant_annotation_id":1043858728,"variant_haplotypes":"rs3787554","gene":"CYP24A1","drugs":"calcitriol, cisplatin, docetaxel","pmid":23435876,"phenotype_category":"Efficacy","significance":"no","notes":"No association was seen with overall survival or progression-free survival. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele G is not associated with response to calcitriol, cisplatin and docetaxel in people with Carcinoma, Non-Small-Cell Lung as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511084,"variant_haplotypes":"rs7643645","gene":"NR1I2","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of AA, AG and GG did not influence donepezil clearance in a covariate model.","sentence":"Genotype AA is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4338734","article_title":"Large\u2010Scale Gene\u2010Centric Analysis Identifies Polymorphisms for Resistant Hypertension","article_path":"articles/PMC4338734.md","variant_annotation_id":1446908047,"variant_haplotypes":"rs12817819","gene":"ATP2B1","drugs":"Antihypertensives","pmid":25385345,"phenotype_category":"Efficacy","significance":"yes","notes":"45,573 SNPs included in association analysis with resistant hypertension (RHTN) in European Americans and Hispanics from the INVEST cohort. Statistical threshold of p=2.6 x 10^-6 used. No SNP achieved this threshold, but the top signal from a meta-analysis of the European American and Hispanic INVEST cohorts was rs12817819. There was a 57% to 76% increase in risk for RHTN for each additional copy of the T allele. To replicate this association, it was tested in a different cohort (Women's Ischemia Syndrome Evaluation (WISE)); there was a consistent trend for this SNP and RHTN, though it did not achieve statistical significance. However, chip-wide significance was achieved in a meta-analysis of both INVEST cohorts and the WISE cohort. No evidence of heterogeneity was seen across the 3 studies. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are associated with increased resistance to Antihypertensives in people with Coronary Artery Disease or Hypertension as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease, Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501880,"variant_haplotypes":"rs3814055","gene":"NR1I2","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was only significant in the African American patients and not in Caucasian patients.","sentence":"Allele T is associated with decreased clearance of carbamazepine in people with Epilepsy as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4296935","article_title":"Warfarin Dosage Response Related Pharmacogenetics in Chinese Population","article_path":"articles/PMC4296935.md","variant_annotation_id":1444694650,"variant_haplotypes":"rs699664","gene":"GGCX","drugs":"warfarin","pmid":25594941,"phenotype_category":"Dosage","significance":"no","notes":"158/220 patients had the target INR (1.5\u20132.5). The comparison of weekly warfarin maintenance dose was among patients of different genotypes. Differences in maintenance dose were not observed in patients with variant genotypes of GGCX rs699664.","sentence":"Genotypes CT + TT are not associated with dose of warfarin in people with heart valve replacement as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767357,"variant_haplotypes":"rs142155704","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele G is not associated with trough concentration of vancomycin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2680291","article_title":"Outcomes of methotrexate therapy for psoriasis and relationship to genetic polymorphisms","article_path":"articles/PMC2680291.md","variant_annotation_id":981477489,"variant_haplotypes":"rs2372536","gene":"ATIC","drugs":"methotrexate","pmid":19016697,"phenotype_category":"Efficacy","significance":"no","notes":"250 responders; 80 non-responders. Bonferroni-corrected p > 0.05","sentence":"Allele C is not associated with response to methotrexate in people with Psoriasis as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7302666","article_title":"Genetic variants in NECTIN4 encoding an adhesion molecule are associated with continued opioid use","article_path":"articles/PMC7302666.md","variant_annotation_id":1451356341,"variant_haplotypes":"rs11265549","gene":"NECTIN4","drugs":"methadone","pmid":32555608,"phenotype_category":"Dosage","significance":"yes","notes":"rs11265549 was found to be in high linkage disequilibrium with rs3892375 and rs12116949 and was selected to be the tag SNP for all three variants.","sentence":"Genotype AA is associated with decreased dose of methadone in people with Opioid-Related Disorders as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5726942","article_title":"Race/ethnicity difference in the pharmacogenetics of bilirubin-related atazanavir discontinuation","article_path":"articles/PMC5726942.md","variant_annotation_id":1449154896,"variant_haplotypes":"rs887829","gene":"UGT1A1","drugs":"atazanavir","pmid":29117017,"phenotype_category":"Toxicity","significance":"no","notes":"risk to for bilirubin-related atazanavir discontinuation","sentence":"Genotype TT is not associated with increased discontinuation of atazanavir as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896179,"variant_haplotypes":"rs74378198","gene":"OSMR","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4307337","article_title":"Capability of Utilizing CYP3A5 Polymorphisms to Predict Therapeutic Dosage of Tacrolimus at Early Stage Post-Renal Transplantation","article_path":"articles/PMC4307337.md","variant_annotation_id":1444694293,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":25594874,"phenotype_category":"Dosage","significance":"yes","notes":"Those with the CT and TT genotypes (\"extensive metabolizers\") had a higher body weight-adjusted dose of tacrolimus on day 28 after transplant as compared to those with the CC genotype (\"poor metabolizers\"; p<0.001). However, no significant result was seen when considering trough concentrations (p=0.481). Additionally, in multiple linear regression analysis, CYP3A5 genotype was significantly associated with dose on days 14, 21 and 28 post-transplant. The contribution of CYP3A5 genotype increased from 7.2% on day 14 to 18.4% and 20.4% on days 21 and 28 respectively. Lastly, patients with the extensive metabolizer genotype had a lower achievement rate of trough concentrations in the target range on days 7 and 14 post-transplant (p=0.011 and p=0.001, respectively). More specifically, extensive metabolizers had trough concentrations lower than the target range on days 7 and 14.","sentence":"Genotypes CT + TT is associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4433569","article_title":"Novel SNP in CYP2C9 is associated with changes in warfarin clearance and CYP2C9 expression levels in African Americans","article_path":"articles/PMC4433569.md","variant_annotation_id":1444608095,"variant_haplotypes":"rs7089580","gene":"CYP2C9","drugs":"warfarin","pmid":25499099,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype AT is associated with increased dose of warfarin as compared to genotype AA.","alleles":"AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC9298338","article_title":"No significant influence of OCT1 genotypes on the pharmacokinetics of morphine in adult surgical patients","article_path":"articles/PMC9298338.md","variant_annotation_id":1451648760,"variant_haplotypes":"rs34059508","gene":"SLC22A1","drugs":"morphine","pmid":34599645,"phenotype_category":"Dosage","significance":"no","notes":"Analyzed as part of haplotypes with rs12208357, rs72552763 and rs34130495. No significant association between haplotypes and PCA doses of morphine.","sentence":"Allele A is not associated with dose of morphine in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359200,"variant_haplotypes":"rs12666409","gene":"DDC","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele A is not associated with response to heroin as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4600600","article_title":"Pharmacogenetics of Naltrexone And Disulfiram in Alcohol Dependent, Dually Diagnosed Veterans","article_path":"articles/PMC4600600.md","variant_annotation_id":1444700343,"variant_haplotypes":"rs1611115","gene":"DBH","drugs":"naltrexone","pmid":24724887,"phenotype_category":"Efficacy","significance":"yes","notes":"Veterans. Two-thirds had a lifetime history of major depressive disorder, 37% had a lifetime history of post-traumatic stress disorder. 65% took SSRIs and 39% took anticonvulsants. 84-day treatment period. Patients who carried the T allele had more abstinence from heavy drinking days as compared to those with the CC genotype. Note that heavy drinking days was defined as more than four standard drinks in a day.","sentence":"Genotypes CT + TT is associated with increased response to naltrexone in men with Alcoholism as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679387,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"esomeprazole, lansoprazole, omeprazole, rabeprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the *1/*2 or *1/*3 genotype had a significantly lower eradication rate of Helicobacter pylori (H. pylori), as compared to those with the *2/*2, *2/*3 or *3/*3 genotype. This was a meta-analysis and included 16 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received antibiotics as part of triple therapy: either amoxicillin and clarithromycin, amoxicillin and metronidazole, or amoxicillin and levofloxacin.","sentence":"CYP2C19 *1/*2 + *1/*3 are associated with decreased response to esomeprazole, lansoprazole, omeprazole or rabeprazole in people with Helicobacter Infections as compared to CYP2C19 *2/*2 + *2/*3 + *3/*3.","alleles":"*1/*2 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*2 + *2/*3 + *3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756011,"variant_haplotypes":"rs3759125","gene":"AQP2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele A is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3597465","article_title":"COMT Val158Met, BDNF Val66Met, and OPRM1 Asn40Asp and Methamphetamine Dependence Treatment Response: Preliminary Investigation","article_path":"articles/PMC3597465.md","variant_annotation_id":1450813982,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"modafinil","pmid":22217949,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and Treatment Effectiveness Scores following modafinil treatment compared to placebo.","sentence":"Allele G is not associated with response to modafinil in people with methamphetamine dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Methamphetamine dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359336,"variant_haplotypes":"rs129882","gene":"DBH","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of heroin in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2650539","article_title":"CYP2B6 G516T Polymorphism but Not Rifampin Coadministration Influences Steady-State Pharmacokinetics of Efavirenz in Human Immunodeficiency Virus-Infected Patients in South India","article_path":"articles/PMC2650539.md","variant_annotation_id":1448997672,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":19124658,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT is associated with increased concentrations of efavirenz in people with HIV Infections as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC3468617","article_title":"Combinatorial Pharmacogenetic Interactions of Bucindolol and \u03b21, \u03b12C Adrenergic Receptor Polymorphisms","article_path":"articles/PMC3468617.md","variant_annotation_id":982046368,"variant_haplotypes":"rs1801253","gene":"ADRB1","drugs":"bucindolol","pmid":23071495,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP was mainly referred to as an Arg>Gly amino acid change at position 389, with the Arg amino acid resulting in better patient outcome. This study was interested in the effect of this SNP in tandem with rs61767072. Patients homozygous for the Arg amino acid showed significantly less occurrences of all cause mortality, cardiac transplant, or heart failure hospitalizations as compared to other patients. Patients carrying the Gly amino acid but were homozygous for the wildtype allele at rs61767072 responded worse than those that were homozygous for wildtype allele at this SNP, but much better than patients carrying the variant allele at both SNPs. Patients carrying the variant allele at both SNPs and were treated with bucindolol had worse outcomes than those that were given a placebo.","sentence":"Genotype CC is associated with increased response to bucindolol in people with Heart Failure as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6003833","article_title":"Allelic Variant in the Glucagon-Like Peptide 1 Receptor Gene Associated with Greater Effect of Liraglutide and Exenatide on Gastric Emptying: A Pilot Pharmacogenetics Study","article_path":"articles/PMC6003833.md","variant_annotation_id":1452878620,"variant_haplotypes":"rs6923761","gene":"GLP1R","drugs":"exenatide, liraglutide","pmid":29488276,"phenotype_category":"PD","significance":"no","notes":"\"A allele of GLP1R (rs6923761) is associated with a greater delay in gastric emptying in response to treatment with GLP-1 agonists.\"","sentence":"Genotypes AA + AG is associated with increased response to exenatide or liraglutide in people with Obesity as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Obesity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5808057","article_title":"No major role of norepinephrine transporter gene variations in the cardiostimulant effects of MDMA","article_path":"articles/PMC5808057.md","variant_annotation_id":1449160206,"variant_haplotypes":"rs47958","gene":"SLC6A2","drugs":"3,4-methylenedioxymethamphetamine","pmid":29198060,"phenotype_category":"Other","significance":"no","notes":null,"sentence":"Allele C is not associated with response to 3,4-methylenedioxymethamphetamine as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407529,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"morphine","pmid":31806881,"phenotype_category":"Efficacy","significance":"not stated","notes":"Nominally significant difference in ischemic pain threshold between genotype groups, but this association was not seen in other pain modalities. Study-wide significance was set to p<0.017.","sentence":"Genotype AA is associated with decreased response to morphine in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6462825","article_title":"Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort","article_path":"articles/PMC6462825.md","variant_annotation_id":1449164026,"variant_haplotypes":"rs4760658","gene":"VDR","drugs":"warfarin","pmid":29298995,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP is in very tight linkage disequilibrium with rs11168293 and rs11168292 (r2>0.97). Mean dose (in mg) of warfarin according to genotype was: GG>AG>AA. p-value adjusted for CYP2C9 metabolizer status and VKORC1 activity status phenotypes, among other factors. Warfarin dose requirement was defined as the reported daily dose at 3 months following treatment initiation.","sentence":"Genotype GG is associated with increased dose of warfarin as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC1884261","article_title":"Disposition of debrisoquine and nortriptyline in Korean subjects in relation to CYP2D6 genotypes, and comparison with Caucasians","article_path":"articles/PMC1884261.md","variant_annotation_id":1183623172,"variant_haplotypes":"CYP2D6*1, CYP2D6*10","gene":"CYP2D6","drugs":"debrisoquine","pmid":12814461,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was a difference found between AUC (0-8) of 4-hydroxydebrisoquine, which was significantly lower in *1/*10 than in *1/*1, but no other differences were found for debrisoquine and none were found for nortriptyline in this sample.","sentence":"CYP2D6 *1/*10 is associated with decreased metabolism of debrisoquine in healthy individuals as compared to CYP2D6 *1/*1.","alleles":"*1/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3582836","article_title":"Multiple regulatory variants modulate expression of 5-hydroxytryptamine 2A receptors in human cortex","article_path":"articles/PMC3582836.md","variant_annotation_id":981480012,"variant_haplotypes":"rs585719","gene":null,"drugs":"citalopram","pmid":23158458,"phenotype_category":"Efficacy","significance":"yes","notes":"This was only true in African Americans and was attributed to LD with rs76665058. No TT were seen in this cohort.","sentence":"Genotype CT is associated with increased response to citalopram in people with Depression as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC2630264","article_title":"The largest prospective warfarin-treated cohort supports genetic forecasting","article_path":"articles/PMC2630264.md","variant_annotation_id":1183701268,"variant_haplotypes":"rs2359612","gene":"VKORC1","drugs":"warfarin","pmid":18574025,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP explained 30% (P = 9.82 x 10(-100)) of the variation in warfarin dose. The direction of the allele:dose relationship is not stated.","sentence":"Allele A is associated with dose of warfarin.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC8182957","article_title":"Effects of rs958804 and rs7858836 single\u2010nucleotide polymorphisms of the ASTN2 gene on pain\u2010related phenotypes in patients who underwent laparoscopic colectomy and mandibular sagittal split ramus osteotomy","article_path":"articles/PMC8182957.md","variant_annotation_id":1451592449,"variant_haplotypes":"rs7858836","gene":"ASTN2","drugs":"fentanyl","pmid":33476460,"phenotype_category":"Dosage","significance":"yes","notes":"This variant was found to be in moderate LD with rs958804. p<0.025 was considered to be statistically significant.","sentence":"Genotypes CT + TT are associated with decreased dose of fentanyl in people with Pain, Postoperative as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4087845","article_title":"Pharmacodynamic and kinetic effect of rabeprazole on serum gastrin level in relation to CYP2C19 polymorphism in Chinese Hans","article_path":"articles/PMC4087845.md","variant_annotation_id":1183622336,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"rabeprazole","pmid":16937451,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in median 24 hour intragastric pH or serum gastrin area under the concentration-time curve from 0-24 hours (AUC0-24) were seen between the two genotype groups. Subjects were given rabeprazole for 8 days; 24 hour intragastric pH and serum gastrin AUC were measured on day 1 and day 8 after rabeprazole administration. Please note that the *2 and *3 alleles were referred to by their previous designations (CYP2C19*m1 and *m2, respectively).","sentence":"CYP2C19 *1/*2 + *1/*3 is not associated with response to rabeprazole in healthy individuals as compared to CYP2C19 *2/*2.","alleles":"*1/*2 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003387,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There is no association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: AG+GG 0.47 (0.09\u201319.88)) vs. AA 0.39 (0.12\u201341.63)). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotypes AG + GG are not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3237821","article_title":"ASSOCIATIONS OF ABCB1 3435C>T AND IL-10 -1082G>A POLYMORPHISMS WITH LONG-TERM SIROLIMUS DOSE REQUIREMENTS IN RENAL TRANSPLANT PATIENTS","article_path":"articles/PMC3237821.md","variant_annotation_id":1448567928,"variant_haplotypes":"rs1800896","gene":"IL10","drugs":"sirolimus","pmid":22094953,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the CC genotype had a 24% higher mean sirolimus log-transformed dose-adjusted trough concentrations (C/D) as compared to those with the CT or TT genotype. Multivariate analysis. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype CC are associated with increased dose-adjusted trough concentrations of sirolimus in people with Kidney Transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756068,"variant_haplotypes":"rs1516400","gene":"AQP9","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele A is not associated with response to platinum in people with Lung Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4023787","article_title":"CYP2B6 18492T\u2192C Polymorphism Compromises Efavirenz Concentration in Coinfected HIV and Tuberculosis Patients Carrying CYP2B6 Haplotype *1/*1","article_path":"articles/PMC4023787.md","variant_annotation_id":1184467305,"variant_haplotypes":"rs2279345","gene":"CYP2B6","drugs":"efavirenz","pmid":24492364,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Significantly lower efavirenz plasma levels were observed in patients with the CT genotype compared to TT only at 24 weeks (after rifampin discontinuation). All patients had the CYP2B6*1/*1 haplotype (as determined by 7 SNPs) before being assessed by this SNP. Please note; this SNP was described as 18492T>C (and previous studies by this group provided the rsID). Multivariate analysis of efavirenz plasma levels at weeks 12 and 24 of treatment showed that this SNP significantly contributed with the C allele was associated with decreased efavirenz plasma concentrations (P at 12 week=0.004 and p at 24 week = 0.007).","sentence":"Genotype CT is associated with increased metabolism of efavirenz in people with HIV Infections as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4513254","article_title":"Race influences warfarin dose changes associated with genetic factors","article_path":"articles/PMC4513254.md","variant_annotation_id":1445296716,"variant_haplotypes":"rs12777823","gene":null,"drugs":"warfarin","pmid":26024874,"phenotype_category":"Dosage","significance":"yes","notes":"only in African Americans, but not European Americans. However, the dose reduction per variant allele was higher among European Americans (2.3% vs 12.3%, interaction P value=0.006) compared with African Americans.","sentence":"Genotypes AA + AG are associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6423619","article_title":"Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19","article_path":"articles/PMC6423619.md","variant_annotation_id":1450935734,"variant_haplotypes":"rs183701923","gene":"CYP2C19","drugs":"mephenytoin","pmid":30745309,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In vitro analysis showed that intrinsic clearance of S-mephenytoin by CYP2C19 protein containing the T allele was 1.6% of that of the WT protein. Variant referred to as 556C>T in the paper.","sentence":"Allele T is associated with decreased clearance of mephenytoin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4342329","article_title":"N-acetyltransferase 1 polymorphism increases cotinine levels in Caucasian children exposed to secondhand smoke: the CCAAPS birth cohort","article_path":"articles/PMC4342329.md","variant_annotation_id":1445296452,"variant_haplotypes":"rs13253389","gene":"NAT1","drugs":"cotinine","pmid":25156213,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Cotinine is a proxy for secondhand smoke exposure. Children with the AG or GG genotypes who were exposed to secondhand smoke had two-fold higher hair cotinine as compared to those with the AA genotype. After adjustment for secondhand smoke dose. Using Bonferroni correction, associations were considered significant at p=0.000677.","sentence":"Genotypes AG + GG is associated with increased concentrations of cotinine in children as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451114009,"variant_haplotypes":"rs2298896","gene":"OPRD1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981747522,"variant_haplotypes":"rs1008899","gene":"NEDD4L","drugs":"atenolol","pmid":23353631,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to atenolol in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC9537548","article_title":"A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients","article_path":"articles/PMC9537548.md","variant_annotation_id":1451919880,"variant_haplotypes":"rs10433340","gene":"PARP14","drugs":"6-hydroxy s-warfarin","pmid":36210801,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"measured as increased S-6OH-warfarin and using a genome wide significance threshold of < 3.846 \u00d7 10\u22129.","sentence":"Allele A is associated with increased concentrations of 6-hydroxy s-warfarin in people with Atrial Fibrillation, venous thromboembolism or Heart Valve Diseases as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation, Other:Venous thromboembolism, Other:Heart Valve Diseases","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5520553","article_title":"Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma","article_path":"articles/PMC5520553.md","variant_annotation_id":1448820555,"variant_haplotypes":"rs3805715","gene":"C6","drugs":"tacrolimus","pmid":28685716,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference was seen when considering RECIPIENT genotype at week 4 of treatment. Patients with hepatocellular carcinoma.","sentence":"Genotype AA is not associated with dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4746878","article_title":"A pharmacogenetic pilot study reveals MTHFR, DRD3, and MDR1 polymorphisms as biomarker candidates for slow atorvastatin metabolizers","article_path":"articles/PMC4746878.md","variant_annotation_id":1451352892,"variant_haplotypes":"rs6280","gene":"DRD3","drugs":"atorvastatin","pmid":26857559,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT are associated with increased concentrations of atorvastatin in healthy individuals as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC10909096","article_title":"Association of Cytidine Deaminase Polymorphism with Capecitabine Effectiveness in Breast Cancer Patients","article_path":"articles/PMC10909096.md","variant_annotation_id":1452346540,"variant_haplotypes":"rs2072671","gene":"CDA","drugs":"capecitabine","pmid":38156857,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by estradiol E2 levels. \"Specifically, for rs2072671, the mutant (CC) has an; elevated estradiol level (mean +/- SD) of (41.01 \u00b1 10.78),; the heterozygous (AC) has a value of (53.98 \u00b1 10.96),; and the wild type (AA) has a value of (51.89 \u00b1 10.42),; with a statistically significant difference between the; three groups.\"","sentence":"Genotypes AA + AC is associated with decreased response to capecitabine in women with Breast Neoplasms as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC11246689","article_title":"Genetic variants of ABCB1 and CES1 genes on dabigatran metabolism in the Kazakh population","article_path":"articles/PMC11246689.md","variant_annotation_id":1452535960,"variant_haplotypes":"rs8192935","gene":"CES1","drugs":"dabigatran","pmid":39011438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\" Individuals with the rs8192935 AA genotype had lower concentrations than those with the GG genotype (P = 0.001). \" \"Genetic variants of CES1 (rs8192935 and rs8192935) were significantly associated with minimal dabigatran concentrations in the additive and recessive models. \"","sentence":"Genotype GG is associated with increased concentrations of dabigatran in people with Atrial Fibrillation as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672820,"variant_haplotypes":"rs138978736","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as neutral function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele T is not associated with metabolism of nicotine as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356751,"variant_haplotypes":"rs1800872","gene":"IL10","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121027,"variant_haplotypes":"rs581111","gene":"OPRD1","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to oxycodone as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4702374","article_title":"A multi-factorial analysis of response to warfarin in a UK prospective cohort","article_path":"articles/PMC4702374.md","variant_annotation_id":1447680551,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":26739746,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"CYP2C9 *2 + *3 are associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2709885","article_title":"Genetic variation of CYP2C19 affects both pharmacokinetic and pharmacodynamic responses to clopidogrel but not prasugrel in aspirin-treated patients with coronary artery disease","article_path":"articles/PMC2709885.md","variant_annotation_id":1184469900,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*8, CYP2C19*17","gene":"CYP2C19","drugs":"prasugrel","pmid":19429918,"phenotype_category":"Efficacy, Metabolism/PK","significance":"no","notes":"Patients were also treated with aspirin. There were 35 EM (by genotype) and 15 PM (by genotype). Dosage was 60 mg loading/10 mg maintenance.","sentence":"CYP2C19 *1/*2 + *1/*8 + *2/*2 (assigned as poor metabolizer phenotype) is not associated with metabolism of prasugrel in people with Coronary Artery Disease as compared to CYP2C19 *1/*1 + *1/*17 + *17/*17 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*8 + *2/*2","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17 + *17/*17","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC6542461","article_title":"Effect of CYP4F2, VKORC1, and CYP2C9 in Influencing Coumarin Dose: A Single-Patient Data Meta-Analysis in More Than 15,000 Individuals","article_path":"articles/PMC6542461.md","variant_annotation_id":1450186421,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"acenocoumarol, warfarin","pmid":30506689,"phenotype_category":"Dosage","significance":"yes","notes":"The meta-analysis showed that this variant (CYP4F2*3) was consistently associated with an increase in mean coumarin dose (+9% (95%CI 7-10%), with a higher effect in females, in patients taking acenocoumarol and in Whites and Asians, but with a low effect size and not in Blacks or other ethnic groups.","sentence":"Genotypes CT + TT are associated with increased dose of acenocoumarol or warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3947488","article_title":"Factors Associated with Variability in Rifampin Plasma Pharmacokinetics and the Relationship between Rifampin Concentrations and Induction of Efavirenz Clearance","article_path":"articles/PMC3947488.md","variant_annotation_id":1183704875,"variant_haplotypes":"rs11045819","gene":"SLCO1B1","drugs":"rifampin","pmid":24420746,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Lower Cmax concentrations of rifampin were observed in individuals with the AC genotype.","sentence":"Genotype AC is associated with increased clearance of rifampin in healthy individuals as compared to genotype CC.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5980466","article_title":"Population pharmacokinetics and pharmacogenomics of apixaban in Japanese adult patients with atrial fibrillation","article_path":"articles/PMC5980466.md","variant_annotation_id":1449191984,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"apixaban","pmid":29457840,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of apixaban in people with Atrial Fibrillation as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170905,"variant_haplotypes":"CYP2C9 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2C9","drugs":"N-desmethyltamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2C9 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of n-desmethyltamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767254,"variant_haplotypes":"rs62360865","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele A is not associated with trough concentration of vancomycin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5726942","article_title":"Race/ethnicity difference in the pharmacogenetics of bilirubin-related atazanavir discontinuation","article_path":"articles/PMC5726942.md","variant_annotation_id":1449154902,"variant_haplotypes":"rs887829","gene":"UGT1A1","drugs":"atazanavir","pmid":29117017,"phenotype_category":"Toxicity","significance":"no","notes":"Risk to for bilirubin-related atazanavir discontinuation.","sentence":"Genotype CT is not associated with increased discontinuation of atazanavir as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359140,"variant_haplotypes":"rs27072","gene":"SLC6A3","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele T is not associated with response to heroin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6037621","article_title":"A genome-wide association study identifies a candidate gene associated with atazanavir exposure measured in hair","article_path":"articles/PMC6037621.md","variant_annotation_id":1450042840,"variant_haplotypes":"rs73208473","gene":"SORCS2","drugs":"atazanavir","pmid":29315502,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"each copy of the rs73208473 minor \u201cA\u201d allele was associated with a 46%; decrease in ATV levels (95% confidence interval (CI) 0.35\u20130.61).\" rs73208473 is relatively common, with allele frequencies of 0.118, 0.319, and 0.119 in the AA, WT, and HIS participants. The association with ATV exposure is stronger in white patients as compared to African American and Hispanic patients.","sentence":"Allele A is associated with decreased exposure to atazanavir in women with HIV Infections as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4296935","article_title":"Warfarin Dosage Response Related Pharmacogenetics in Chinese Population","article_path":"articles/PMC4296935.md","variant_annotation_id":1444694676,"variant_haplotypes":"rs7294","gene":"VKORC1","drugs":"warfarin","pmid":25594941,"phenotype_category":"Dosage","significance":"no","notes":"158/220 patients had the target INR (1.5\u20132.5). The comparison of weekly warfarin maintenance dose was significantly different among patients of different genotypes: GGCX rs7294 (CC 19.40\u00b15.75 mg/w vs CT 27.87\u00b18.80 mg/w p < 0.001 ANOVA). The allele was not significantly associated with weekly maintenance dose when analyzed in multiple linear regression analysis, however.","sentence":"Genotype CC is not associated with dose of warfarin in people with heart valve replacement as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2966981","article_title":"Effect of gene polymorphisms on the levels of calcineurin inhibitors in Indian renal transplant recipients","article_path":"articles/PMC2966981.md","variant_annotation_id":1184514516,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":21072155,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Median L/D ratio for tacrolimus was higher in subjects with CYP3A5*3/*3 than in subjects with CYP3A5*1 carriers at 6th day post-transplantation..","sentence":"Allele C is associated with decreased metabolism of tacrolimus in people with Kidney Transplantation as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4527535","article_title":"Multigene predictors of tacrolimus exposure in kidney transplant recipients","article_path":"articles/PMC4527535.md","variant_annotation_id":1444934267,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":26067485,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"One CYP3A5*1 allele reduced trough concentrations of tacrolimus by 34.8%, and two *1 alleles were associated with a 57.5% reduction. n=35,043 tacrolimus trough concentrations were available for analysis.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with decreased trough concentration of tacrolimus in people with Kidney Transplantation.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359324,"variant_haplotypes":"rs27072","gene":"SLC6A3","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of heroin in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4425056","article_title":"APOE Polymorphisms Contribute to Reduced Atorvastatin Response in Chilean Amerindian Subjects","article_path":"articles/PMC4425056.md","variant_annotation_id":1447677505,"variant_haplotypes":"rs5925","gene":"LDLR","drugs":"atorvastatin","pmid":25860945,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype CC is not associated with response to atorvastatin in people with Hypercholesterolemia as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4425504","article_title":"Association between Polymorphisms in Vascular Endothelial Growth Factor Gene and Response to Chemotherapies in Colorectal Cancer: A Meta-Analysis","article_path":"articles/PMC4425504.md","variant_annotation_id":1444842369,"variant_haplotypes":"rs3025039","gene":"VEGFA","drugs":"bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin, oxaliplatin","pmid":25955730,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to treatment was determined by RECIST criteria.","sentence":"Genotype TT is associated with decreased response to bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin and oxaliplatin in people with Colorectal Neoplasms as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5342450","article_title":"Pharmacogenomics of platinum-based chemotherapy response in NSCLC: a genotyping study and a pooled analysis","article_path":"articles/PMC5342450.md","variant_annotation_id":1448123636,"variant_haplotypes":"rs861539","gene":"XRCC3","drugs":"Platinum compounds","pmid":27248474,"phenotype_category":"Efficacy","significance":"yes","notes":"\"CC genotype of XRCC3 C18067T carriers showed more resistance to platinum-based chemotherapy when compared to those with CT or TT genotypes.\"","sentence":"Genotypes AA + AG are associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2751283","article_title":"CYP2D6 Genotyping as an alternative to phenotyping for determination of metabolic status in a clinical trial setting","article_path":"articles/PMC2751283.md","variant_annotation_id":1183629548,"variant_haplotypes":"CYP2D6*4, CYP2D6*5","gene":"CYP2D6","drugs":"debrisoquine, dextromethorphan","pmid":11741249,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Out of 558 subjects previously phenotyped for clinical studies and genotyped for this study, 46 PM were found. 8 of these 46 were *4/*5.","sentence":"CYP2D6 *4/*5 is associated with decreased metabolism of debrisoquine or dextromethorphan.","alleles":"*4/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC8841435","article_title":"Pharmacogenomics of celiprolol \u2013 evidence for a role of P\u2010glycoprotein and organic anion transporting polypeptide 1A2 in celiprolol pharmacokinetics","article_path":"articles/PMC8841435.md","variant_annotation_id":1451548140,"variant_haplotypes":"rs11568563","gene":"SLCO1A2","drugs":"celiprolol","pmid":34585840,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"the AUC0-infinity values were 25% smaller (p < 5 \u00d7 10\u22124) per copy of the SLCO1A2 c.516A>C minor allele\". Alleles complemented to plus chromosomal strand.","sentence":"Allele G is associated with decreased concentrations of Celiprolol in healthy individuals as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC11159294","article_title":"Role of UGT1A1*6, UGT1A1*28 and ABCG2 c.421C>A polymorphisms in irinotecan\u2010induced neutropenia in Asian cancer patients","article_path":"articles/PMC11159294.md","variant_annotation_id":981747792,"variant_haplotypes":"rs4148323","gene":"UGT1A1","drugs":"SN-38","pmid":17627617,"phenotype_category":"Dosage","significance":"yes","notes":"This refers to reduced metabolism of the SN-38 metabolite into the inactive SN-38G form by UGT1A1. Patients homozygous for the A allele had increased exposure to SN-38, increased biliary index values and decreased relative extent of glucuronidation (please see study parameters for further description of these measurements). Irinotecan was given once every three weeks in a 375 mg/m2 dose, and neoplasms included nasopharyngeal carcinoma (n=1), gastrointestinal (n=35), genitourinary (n=2), non-small-cell lung cancer (n=5) and miscellaneous (n=2).","sentence":"Genotype AA is associated with decreased metabolism of SN-38 in people with Neoplasms as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715433,"variant_haplotypes":"rs7439366","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Efficacy","significance":"yes","notes":"There was a significant difference in PPLpost-PPLpre between the genotype groups.","sentence":"Genotype TT is associated with decreased response to fentanyl in people with Pain, Postoperative as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC11754044","article_title":"UGT2B15 single nucleotide polymorphism reduces dabigatran acylglucuronide formation in humans","article_path":"articles/PMC11754044.md","variant_annotation_id":1452825760,"variant_haplotypes":"rs1902023","gene":"UGT2B15","drugs":"dabigatran glucuronide","pmid":39850575,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"The m/p ratios for both Cmax and AUCall were significantly higher in the GG and GT genotypes than in the TT genotype (Table 2; Figure 3), indicating more efficient conversion of DAB to its acylglucuronide form in the GG and GT genotypes. Conversely, the reduced m/p ratio among individuals with the TT genotype suggests that this polymorphism impairs the conversion of DAB to its acylglucuronide form, further confirming the role of UGT2B15 in DAB metabolism.\"","sentence":"Genotype AA is associated with decreased concentrations of dabigatran glucuronide in healthy individuals as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC9610285","article_title":"Polymorphism of Drug Transporters, Rather Than Metabolizing Enzymes, Conditions the Pharmacokinetics of Rasagiline","article_path":"articles/PMC9610285.md","variant_annotation_id":1451928680,"variant_haplotypes":"rs34059508","gene":"SLC22A1","drugs":"rasagiline","pmid":36297437,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"and lower Cmax and higher tmax were significant and Cmax remained significant after Bonferroni. Authors state \"SLC22A1 rs34059508 genotype (*1/*1 equals to G/G, *1/*5 equals to G/A).","sentence":"Genotype AG is associated with increased clearance of rasagiline in healthy individuals as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":827784987,"variant_haplotypes":"rs2071427","gene":"NR1D1, THRA","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"yes","notes":"This result is for the combination of this SNP with; rs6438552 GG. People with this genotype combination had a 75% chance of being in the Li-responsive group. People with rs2071427 CC/rs6438552 AA had a 44% response rate. Those with 2 or 3 favorable alleles had responses on a gradient between these two results.","sentence":"Genotype TT is associated with increased response to lithium in people with Bipolar Disorder.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6489578","article_title":"VKORC1 variants as significant predictors of warfarin dose in Emiratis","article_path":"articles/PMC6489578.md","variant_annotation_id":1451589825,"variant_haplotypes":"rs17708472","gene":"VKORC1","drugs":"warfarin","pmid":31114289,"phenotype_category":"Dosage","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6586010","article_title":"No Clinical Impact of CYP3A5 Gene Polymorphisms on the Pharmacokinetics and/or Efficacy of Maraviroc in Healthy Volunteers and HIV\u20101\u2013Infected Subjects","article_path":"articles/PMC6586010.md","variant_annotation_id":1450371807,"variant_haplotypes":"CYP3A5 intermediate metabolizers","gene":"CYP3A5","drugs":"maraviroc","pmid":30192390,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In study A4001110, black CYP3A5 intermediate metabolizers had a significant increase in average maraviroc plasma concentrations compared to black extensive metabolizers. The authors determined this difference in maraviroc concentrations to not be clinically significant.","sentence":"CYP3A5 intermediate metabolizer is associated with increased concentrations of maraviroc in people with HIV Infections as compared to CYP3A5 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5817390","article_title":"An integrated pharmacokinetic/pharmacogenomic analysis of ABCB1 and SLCO1B1 polymorphisms on edoxaban exposure","article_path":"articles/PMC5817390.md","variant_annotation_id":1448525859,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"edoxaban","pmid":27897269,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in total plasma exposure (AUCinf), peak plasma exposure (Cmax), trough concentrations (C24), plasma exposure from the time of dosing to the last measurable concentration (AUClast), or plasma exposure up to 24 hours after dosing (AUC0-24) were seen between any of the genotypes. This indicates that this SNP \"does not significantly affect edoxaban exposure\".","sentence":"Genotype AA is not associated with exposure to edoxaban in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6612579","article_title":"Anastrozole Aromatase Inhibitor Plasma Drug Concentration Genome\u2010Wide Association Study: Functional Epistatic Interaction Between SLC38A7 and ALPPL2","article_path":"articles/PMC6612579.md","variant_annotation_id":1450807038,"variant_haplotypes":"rs11648166","gene":null,"drugs":"anastrozole","pmid":30648747,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The minor allele of this variant was associated with increased plasma concentrations of anastrozole in postmenopausal women with ER+ breast cancer.","sentence":"Allele G is associated with increased concentrations of anastrozole in women with Breast Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3292264","article_title":"Exploration of CYP450 and drug transporter genotypes and correlations with nevirapine exposure in Malawians","article_path":"articles/PMC3292264.md","variant_annotation_id":827823858,"variant_haplotypes":"rs2472677","gene":"NR1I2","drugs":"nevirapine","pmid":22111602,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"no association with PK parameters area under the concentration time curve or apparent oral clearance of the drug. [stat_test: univariate and multiple linear regression]","sentence":"Genotypes CT + TT are not associated with decreased clearance of nevirapine in people with HIV Infections as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4154311","article_title":"A randomized placebo-controlled trial of ataluren for the treatment of nonsense mutation cystic fibrosis","article_path":"articles/PMC4154311.md","variant_annotation_id":1447952408,"variant_haplotypes":"rs113993959","gene":"CFTR","drugs":"ataluren","pmid":24836205,"phenotype_category":"Efficacy","significance":"no","notes":"Outcomes assessed for all nonsense mutations together (W1282X, G542X, R1162X, and R553X). Case-control study with placebo. Endpoint measured was change in Forced Expiratory Volume in 1 second. A difference was seen in the subset of patients on tobramycin.","sentence":"Allele T is not associated with response to ataluren in people with Cystic Fibrosis as compared to allele G.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2715837","article_title":"G-Protein-Coupled Receptor Kinase 4 Polymorphisms and Blood Pressure Response to Metoprolol Among African Americans: Sex-Specificity and Interactions","article_path":"articles/PMC2715837.md","variant_annotation_id":827864047,"variant_haplotypes":"rs1024323","gene":"GRK4","drugs":"metoprolol","pmid":19119263,"phenotype_category":"Efficacy","significance":"yes","notes":"This was an additive effect - patients with the CT genotype had a worse response compared to those with TT but better response compared to those with CC. Using Cox analysis, this was shown to only be significant in men who were also heterozygous or homozygous for the rs2960306 allele T (Leu65) and was not seen in men homozygous for rs2960306 allele G (Arg65). Response was measured by time to reach a mean arterial pressure of < or = 107 mm Hg.","sentence":"Genotype CC is associated with decreased response to metoprolol in men with hypertensive nephrosclerosis as compared to genotype TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:hypertensive nephrosclerosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2857717","article_title":"The efficacies of clozapine and haloperidol in refractory schizophrenia are related to DTNBP1 variation","article_path":"articles/PMC2857717.md","variant_annotation_id":608178665,"variant_haplotypes":"rs909706","gene":"DTNBP1","drugs":"haloperidol","pmid":19369910,"phenotype_category":"Efficacy","significance":"no","notes":"[Drug: clozapine]","sentence":"Genotype CT is associated with increased response to haloperidol in people with Schizophrenia as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC2794198","article_title":"TPMT Genetic Variations in Populations of the Russian Federation","article_path":"articles/PMC2794198.md","variant_annotation_id":1184134324,"variant_haplotypes":"TPMT*1, TPMT*2, TPMT*3A, TPMT*3C","gene":"TPMT","drugs":"methotrexate, purine analogues","pmid":19034904,"phenotype_category":"Efficacy","significance":"no","notes":"Event Free Survival: 90% for heterozygotes;83% for *1/*1 at median followup of 31.3 months (range 4-163 months). The assay used detects *2,*3A,*3B,*3C,*3D,*7 and *8. Treatment protocol ALL BFM-90 or ALL MB-91/2002 was followed. In the group of pediatric cancer patients (a superset of the ALL patients), frequencies of the total number of \"variant\" alleles were: *2: 6.1%; *3A: 81.8%; *3C: 12.1% .","sentence":"TPMT *1/*2 + *1/*3A + *1/*3C is not associated with response to methotrexate and purine analogues in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT *1/*1.","alleles":"*1/*2 + *1/*3A + *1/*3C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672964,"variant_haplotypes":"rs1303839356","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3872414","article_title":"Polymorphisms of MTHFR Associated with Higher Relapse/Death Ratio and Delayed Weekly MTX Administration in Pediatric Lymphoid Malignancies","article_path":"articles/PMC3872414.md","variant_annotation_id":1451506520,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"methotrexate","pmid":24386571,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in relapse-free survival between genotype groups. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to methotrexate in children with Lymphoma, Non-Hodgkin or Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Non-Hodgkin Lymphoma, Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451114002,"variant_haplotypes":"rs1042114","gene":"OPRD1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5266160","article_title":"Clinical and genetic factors associated with warfarin maintenance dose in northern Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC5266160.md","variant_annotation_id":1448567649,"variant_haplotypes":"rs2069514","gene":"CYP1A2","drugs":"warfarin","pmid":28079798,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype GG are associated with decreased dose of warfarin in people with heart valve replacement as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3846997","article_title":"A polymorphism in the histone deacetylase 1 gene is associated with the response to corticosteroids in asthmatics","article_path":"articles/PMC3846997.md","variant_annotation_id":1184514486,"variant_haplotypes":"rs1741981","gene":"HDAC1","drugs":"corticosteroids","pmid":24307847,"phenotype_category":"Efficacy","significance":"yes","notes":"Children with the CC genotype showed significantly lower percent forced expiratory volume in 1 second (%FEV1) increases in response to inhaled corticosteroids, as compared to those with the CT or TT genotype. Patients were treated for 8 weeks. Note that this allele was significantly related to asthma severity (same direction of association; corrected p=0.036).","sentence":"Genotype CC is associated with decreased response to corticosteroids in children with Asthma as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4490522","article_title":"Pharmacogenomics of Methotrexate Membrane Transport Pathway: Can Clinical Response to Methotrexate in Rheumatoid Arthritis Be Predicted?","article_path":"articles/PMC4490522.md","variant_annotation_id":1444843366,"variant_haplotypes":"rs3784864","gene":"ABCC1","drugs":"methotrexate","pmid":26086825,"phenotype_category":"Efficacy","significance":"yes","notes":"ABCC1 rs3784864 G carrier is associated with increased risk of non-response to methotrexate.","sentence":"Genotypes AG + GG are associated with decreased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC10483403","article_title":"Genetic polymorphisms are associated with individual susceptibility to dexmedetomidine","article_path":"articles/PMC10483403.md","variant_annotation_id":1452241174,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"dexmedetomidine","pmid":37693312,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by shorter onset time. \"In our study, homozygosity for the A allele (AA) was more quickly to arrive at the desired sedation status than carriers of the G allele (AG/GG) (18.55 \u00b1 7.65 vs. 24.63 \u00b1 18.94, p = 0.031). This means that homozygosity for the major allele A) of ADRB2 rs1042713 was associated with a higher susceptibility to DXM\u2019s efficacy.\"","sentence":"Genotype AA is associated with increased response to dexmedetomidine in people with surgery as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:surgery","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104832,"variant_haplotypes":"rs1835740","gene":null,"drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders. Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491224,"variant_haplotypes":"rs2134227","gene":"SV2C","drugs":"quetiapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype GG is not associated with response to quetiapine in people with Schizophrenia as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767319,"variant_haplotypes":"rs3008610","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele A is not associated with trough concentration of vancomycin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC8505452","article_title":"Genetic contributions to alcohol use disorder treatment outcomes: a genome-wide pharmacogenomics study","article_path":"articles/PMC8505452.md","variant_annotation_id":1451640200,"variant_haplotypes":"rs12749274","gene":null,"drugs":"naltrexone","pmid":34302059,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele was associated with an increased risk of relapse to heavy drinking in patients undergoing naltrexone treatment.","sentence":"Allele A is associated with decreased response to naltrexone in people with Alcoholism as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2042718","article_title":"A novel mutant variant of the CYP2D6 gene (CYP2D6 17) common in a black African population: association with diminished debrisoquine hydroxylase activity","article_path":"articles/PMC2042718.md","variant_annotation_id":1447990832,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*17","gene":"CYP2D6","drugs":"debrisoquine","pmid":8971426,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"MR of was higher for *17/*17 (n=10) mean value 3.94 as compared to *1/*17 (n=23) mean value 1.45 (p<0.001) or compared to mean MR values *1/*1(n=12) =0.56 or *1/*2 (n=13)=0.59 (both p<0.001).","sentence":"CYP2D6 *17/*17 is associated with decreased metabolism of debrisoquine in healthy individuals as compared to CYP2D6 *1/*1 + *1/*2 + *1/*17.","alleles":"*17/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2 + *1/*17","comparison_metabolizer_types":null} +{"pmcid":"PMC4682920","article_title":"Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study","article_path":"articles/PMC4682920.md","variant_annotation_id":1447682490,"variant_haplotypes":"rs8178822","gene":"APOH","drugs":"boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":26670100,"phenotype_category":"Efficacy","significance":"no","notes":"This variant was not significantly associated with SVR to triple therapy including telaprevir or boceprevir in patients with compensated cirrhosis chronically infected with HCV-1.","sentence":"Allele G is not associated with increased response to boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6767327","article_title":"Enantiospecific Pharmacogenomics of Fluvastatin","article_path":"articles/PMC6767327.md","variant_annotation_id":1450823509,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"fluvastatin","pmid":30989645,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant is significantly associated with increased area under the plasma concentration-time curve (AUC) of 3R,5S-fluvastatin and total fluvastatin (but not 3S,5R-fluvastatin) in the candidate gene study.","sentence":"Allele C is associated with increased concentrations of fluvastatin in healthy individuals as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162856,"variant_haplotypes":"rs3814057","gene":"NR1I2","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. This is a proxy SNP for rs2276707.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757003,"variant_haplotypes":"rs2290228","gene":"CALU","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele G is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449558010,"variant_haplotypes":"rs4982133","gene":null,"drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3415853","article_title":"Association of Polymorphisms of the Mu Opioid Receptor Gene with the Severity of HIV Infection and Response to HIV Treatment","article_path":"articles/PMC3415853.md","variant_annotation_id":1450814181,"variant_haplotypes":"rs671531","gene":"OPRM1","drugs":"highly active antiretroviral therapy (haart)","pmid":22457278,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the GG genotype showed no decrease in viral load following the initiation of HAART, while patients with the AA or AG genotypes had a decrease in viral load. This association was only found in Hispanic patients.","sentence":"Genotype GG is associated with decreased response to highly active antiretroviral therapy (haart) in people with HIV Infections as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4043918","article_title":"The impact of age and CYP2C9 and VKORC1 variants on stable warfarin dose in the paediatric population","article_path":"articles/PMC4043918.md","variant_annotation_id":1185235716,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":24601977,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the TT genotype required 48% the dose of those with the CC genotype. VKORC1 genotype was found to account for 13% of the variability in stable warfarin dose (mg/day). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is associated with decreased dose of warfarin in children as compared to genotype CC.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC1365130","article_title":"Cytochrome P4502D6 genotype does not determine response to clozapine","article_path":"articles/PMC1365130.md","variant_annotation_id":1183631242,"variant_haplotypes":"CYP2D6*1","gene":"CYP2D6","drugs":"clozapine","pmid":7640149,"phenotype_category":"Metabolism/PK","significance":"no","notes":"CYP2D6 genotype was not associated with clozapine metabolism.","sentence":"CYP2D6 *1 is not associated with metabolism of clozapine in people with Schizophrenia.","alleles":"*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5727167","article_title":"Identification of two novel genes SLC15A2 and SLCO1B3 associated with maintenance dose variability of warfarin in a Chinese population","article_path":"articles/PMC5727167.md","variant_annotation_id":1449157684,"variant_haplotypes":"rs1143672","gene":"SLC15A2","drugs":"warfarin","pmid":29234073,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype AA is associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6767327","article_title":"Enantiospecific Pharmacogenomics of Fluvastatin","article_path":"articles/PMC6767327.md","variant_annotation_id":1450823491,"variant_haplotypes":"rs58310495","gene":"SLCO1B1","drugs":"fluvastatin","pmid":30989645,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant is significantly associated with increased area under the plasma concentration-time curve (AUC) of 3R,5S-fluvastatin, but not 3S,5R-fluvastatin. The AUC was 34% larger per copy of the variant allele. This variant is strongly linked with SLCO1B1 c.521T>C (r2=0.69).","sentence":"Allele T is associated with increased concentrations of fluvastatin in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5006145","article_title":"Impact of CYP2C9, VKORC1 and CYP4F2 genetic polymorphisms on maintenance warfarin dosage in Han-Chinese patients: A systematic review and meta-analysis","article_path":"articles/PMC5006145.md","variant_annotation_id":1449260681,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":27617219,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5543069","article_title":"Effect of carboxylesterase 1 S75N on clopidogrel therapy among acute coronary syndrome patients","article_path":"articles/PMC5543069.md","variant_annotation_id":1448640683,"variant_haplotypes":"rs2307240","gene":"CES1","drugs":"clopidogrel","pmid":28775293,"phenotype_category":"Efficacy","significance":"yes","notes":"The authors investigated the association between genotypes and several clinical outcomes in patients with acute coronary syndrome who were also taking clopidogrel","sentence":"Genotypes CT + TT are associated with increased response to clopidogrel in people with Acute coronary syndrome as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Acute coronary syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC2000640","article_title":"SLCO1B1 521T\u2192C functional genetic polymorphism and lipid-lowering efficacy of multiple-dose pravastatin in Chinese coronary heart disease patients","article_path":"articles/PMC2000640.md","variant_annotation_id":982043772,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"pravastatin","pmid":17439540,"phenotype_category":"Efficacy","significance":"yes","notes":"as determined by a smaller reduction in total cholesterol in patients with the CT genotype compared to the TT genotype. Changes in LDL-C, HDL-C and triglycerides were not significantly different.","sentence":"Genotype CT is associated with decreased response to pravastatin in people with Coronary Stenosis as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Stenosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC11825576","article_title":"Pharmacogenetics of opioid medications for relief of labor pain and post-cesarean pain: a systematic review and meta-analysis","article_path":"articles/PMC11825576.md","variant_annotation_id":1452809660,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"opioids","pmid":39774699,"phenotype_category":"Dosage","significance":"yes","notes":"\"A significant difference was observed among carriers of rs1799971 GG genotype in comparison to carriers of the A-allele in terms of opioid dose requirement for pain management of post-cesarean pain (SMD: 0.59; 95% CI: 0.17\u20131.02; P\u2009=\u20090.006, Fig. 3B).\" \"Six studies including patients with post-cesarean pain only [18,19,20, 23, 37, 42] were available for the association between the recessive model of OPRM1 rs1799971 and total opioid consumption (Fig. 3B). \"","sentence":"Genotype GG is associated with increased dose of opioids in women with Caesarian section and Pain as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Caesarian section, Other:Pain","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934392,"variant_haplotypes":"rs727504348","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the T allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Gly373Ser in the paper.","sentence":"Allele T is associated with increased response to migalastat in people with Fabry Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163202,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6654446","article_title":"Gender\u2010specific association between preproendothelin\u20101 genotype and reduction of systolic blood pressure during antihypertensive treatment\u2010\u2010\u2010results from the Swedish irbesartan left ventricular hypertrophy investigation versus atenolol (SILVHIA)","article_path":"articles/PMC6654446.md","variant_annotation_id":982043126,"variant_haplotypes":"rs5370","gene":"EDN1","drugs":"atenolol, irbesartan","pmid":15188945,"phenotype_category":"Efficacy","significance":"yes","notes":"No significant difference in the change in systolic blood pressure (SBP) or diastolic blood pressure (DBP) between genotypes was seen, between baseline and 12 weeks. p-value was adjusted for age, dose, and SBP, DBP and left ventricular mass index (LVMI) at baseline.","sentence":"Genotypes GT + TT are not associated with response to atenolol and irbesartan in women with Essential hypertension as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5098919","article_title":"Association of Cytochrome P450 Genetic Variants with Clopidogrel Resistance and Outcomes in Acute Ischemic Stroke","article_path":"articles/PMC5098919.md","variant_annotation_id":1447949731,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"clopidogrel","pmid":26961113,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"CYP2C9 *1/*3 + *3/*3 is not associated with resistance to clopidogrel in people with Stroke as compared to CYP2C9 *1/*1.","alleles":"*1/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Stroke","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3061841","article_title":"The Relation Between CYP2C19 Genotype and Phenotype in Stented Patients on Maintenance Dual Antiplatelet Therapy","article_path":"articles/PMC3061841.md","variant_annotation_id":769245428,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"aspirin","pmid":21392617,"phenotype_category":"Efficacy","significance":"not stated","notes":"Aspirin 81-325 mg/d for at least 2 weeks. ADP-induced ex vivo platelet aggregation was measured. *2 SNP. Comparison was between A carriers and non-carriers. [stat_test: chi-square]","sentence":"Allele A is not associated with decreased response to aspirin in people with Coronary Artery Disease as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672704,"variant_haplotypes":"rs768416963","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele T is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3818518","article_title":"Pharmacogenetic Randomized Trial for Cocaine Abuse: Disulfiram and \u03b11A-adrenoceptor gene variation","article_path":"articles/PMC3818518.md","variant_annotation_id":1452010880,"variant_haplotypes":"rs1048101","gene":"ADRA1A","drugs":"disulfiram","pmid":23849431,"phenotype_category":"Efficacy","significance":"yes","notes":"alleles complemented to plus chromosomal strand. Significance measured for untreated vs treated for each genotype group. \"As shown in Figure 1, cocaine positive urines for the TT/TC genotype group during the two baseline weeks were 78% for disulfiram and 80% for placebo. These rates dropped during the last two weeks of treatment to 52% for disulfiram and to 73% for placebo. In comparison, cocaine urines for the CC genotype group during the two baseline weeks were 86% for disulfiram and 80% for placebo. These rates were relatively unchanged during the last two weeks of treatment at 81% for disulfiram and to 82% for placebo. \" Authors showed interaction between this variant and the DBH rs1611115 variant.","sentence":"Genotypes AA + AG is associated with increased response to disulfiram in people with Cocaine-Related Disorders as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cocaine dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114925,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association between this variant and virologic suppression in patients treated with lopinavir/ritonavir. Variant referred to in the paper as T512C.","sentence":"Allele C is not associated with response to lopinavir or ritonavir in children with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375604,"variant_haplotypes":"rs61816456","gene":"NTNG1","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele A is associated with increased response to allopurinol as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729352,"variant_haplotypes":"rs15524","gene":"CYP3A5","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes AG + GG is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4525256","article_title":"Leveraging an Electronic Health Record-Linked Biorepository to Generate a Metformin Pharmacogenomics Hypothesis","article_path":"articles/PMC4525256.md","variant_annotation_id":1446903458,"variant_haplotypes":"rs13376631","gene":"FMO1","drugs":"metformin","pmid":26306225,"phenotype_category":"Efficacy","significance":"no","notes":"EHR-linked and EHR-based phenotyping methods were used to study common variants within FMO5. Efficacy was assessed by A1c levels extracted from EHR records. The SNP was marginally significant after correction for multiple testing.","sentence":"Allele G is not associated with response to metformin in people with Diabetes Mellitus as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC556232","article_title":"Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin","article_path":"articles/PMC556232.md","variant_annotation_id":613978601,"variant_haplotypes":"rs3812718","gene":"SCN1A","drugs":"phenytoin","pmid":15805193,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with increased dose of phenytoin in people with Epilepsy as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170844,"variant_haplotypes":"CYP3A4 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP3A4","drugs":"endoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A4 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of endoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3865618","article_title":"Association of Genetic Polymorphisms with Warfarin Dose Requirements in Chinese Patients","article_path":"articles/PMC3865618.md","variant_annotation_id":1184482805,"variant_haplotypes":"rs3814637","gene":"CYP2C19","drugs":"warfarin","pmid":23941071,"phenotype_category":"Dosage","significance":"yes","notes":"\"The mean warfarin dose in patients with the CYP2C19 rs3814637CC genotype was 3.39mg/day, which was higher than that in patients with the CYP2C19 rs3814637TT genotype (2.00mg/day).\"","sentence":"Genotype CC is associated with increased dose of warfarin as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995800,"variant_haplotypes":"rs1960669","gene":"FGF2","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6219441","article_title":"Comprehensive Ara-C SNP score predicts leukemic cell intracellular ara-CTP levels in pediatric acute myeloid leukemia patients","article_path":"articles/PMC6219441.md","variant_annotation_id":1449752036,"variant_haplotypes":"rs11577910","gene":"CTPS1","drugs":"ara-CTP","pmid":30088438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"No AA homozygotes observed.","sentence":"Genotype AG is associated with increased concentrations of ara-CTP in children with Leukemia, Myeloid, Acute as compared to genotype GG.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104869,"variant_haplotypes":"rs3810651","gene":"GABRQ","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele T is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2992873","article_title":"Genetic Variation of VKORC1 and CYP4F2 Genes Related to Warfarin Maintenance Dose in Patients with Myocardial Infarction","article_path":"articles/PMC2992873.md","variant_annotation_id":981500585,"variant_haplotypes":"rs7294","gene":"VKORC1","drugs":"warfarin","pmid":21127708,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"This is VKORC1*3. There was a significant association when analyzed alone, but the effect was so small that it was negligible when analyzed with VKORC1*2,CYP2C9*2 and CYP2C9*3.","sentence":"Allele T is associated with increased dose of warfarin in people with Myocardial Infarction as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Myocardial Infarction","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3213989","article_title":"RUNX transcription factors: association with pediatric asthma and modulated by maternal smoking","article_path":"articles/PMC3213989.md","variant_annotation_id":827789050,"variant_haplotypes":"rs11702779","gene":"RUNX1","drugs":"methacholine chloride","pmid":21803869,"phenotype_category":"Other","significance":"yes","notes":"This is for children who WERE exposed to maternal smoking in utero.","sentence":"Genotypes AG + GG are associated with increased response to methacholine chloride in children with Asthma.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":982043698,"variant_haplotypes":"rs2246709","gene":"CYP3A4","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"no","notes":"No significant change in the likelihood of a woman reaching a target mean arterial pressure concentration of <= 92 mmHg or <= 107 mmHg was seen between genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AG + GG are not associated with response to amlodipine in women with Hypertension as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4930967","article_title":"Prospective study of the UGT1A1*27 gene polymorphism during irinotecan therapy in patients with lung cancer: Results of Lung Oncology Group in Kyusyu (LOGIK1004B)","article_path":"articles/PMC4930967.md","variant_annotation_id":1448422916,"variant_haplotypes":"UGT1A1*1, UGT1A1*6, UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan","pmid":27385990,"phenotype_category":"Efficacy","significance":"no","notes":"Neither the *6 nor the *28 alleles were associated with tumor response rate, progression free survival or overall survival.","sentence":"UGT1A1 *6 + *28 are not associated with response to irinotecan in people with Lung Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*6 + *28","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3248257","article_title":"The population pharmacokinetics of R- and S-warfarin: effect of genetic and clinical factors","article_path":"articles/PMC3248257.md","variant_annotation_id":827863702,"variant_haplotypes":"rs3814637","gene":"CYP2C19","drugs":"warfarin","pmid":21692828,"phenotype_category":"Other, Metabolism/PK","significance":"not stated","notes":"For R-Warfarin in a model that included bodyweight, age and CYP3A4 rs2242480.","sentence":"Allele T is associated with decreased clearance of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4292894","article_title":"Genetic variation in the UGT1A locus is associated with simvastatin efficacy in a clinical practice setting","article_path":"articles/PMC4292894.md","variant_annotation_id":1296666983,"variant_haplotypes":"rs12052787","gene":"UGT1A9","drugs":"simvastatin","pmid":25493567,"phenotype_category":"Efficacy","significance":"yes","notes":"The mean Emax (maximum decrease in LDL-C) was 59.77 \u00b1 22.68, 64.24 \u00b1 24.56, and 61.42 \u00b1 4.617mg/dl, for patients with 0, 1 or 2 copies of the minor T allele. There is a nominally significant association between Emax with this variant.","sentence":"Allele T is associated with increased response to simvastatin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680719,"variant_haplotypes":"rs45564134","gene":"CYP1A2","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Presented as G and deletion","sentence":"Allele G is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes G/del + del/del.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G/del + del/del","comparison_metabolizer_types":null} +{"pmcid":"PMC2751283","article_title":"CYP2D6 Genotyping as an alternative to phenotyping for determination of metabolic status in a clinical trial setting","article_path":"articles/PMC2751283.md","variant_annotation_id":1183629572,"variant_haplotypes":"CYP2D6*3, CYP2D6*4","gene":"CYP2D6","drugs":"debrisoquine, dextromethorphan","pmid":11741249,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Out of 558 subjects previously phenotyped for clinical studies and genotyped for this study, 46 PM were found. 1 of these 46 was *3/*4. One *3/*4 had been phenotyped on dextromethorphan as EM.","sentence":"CYP2D6 *3/*4 is associated with metabolism of debrisoquine or dextromethorphan.","alleles":"*3/*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680801,"variant_haplotypes":"rs707265","gene":"CYP2B6","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype AA is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171084,"variant_haplotypes":"rs8192719","gene":"CYP2B6","drugs":"methadone","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with concentrations of methadone as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC1884346","article_title":"Haloperidol plasma concentration in Japanese psychiatric subjects with gene duplication of CYP2D6","article_path":"articles/PMC1884346.md","variant_annotation_id":1183623024,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*10","gene":"CYP2D6","drugs":"haloperidol","pmid":12919180,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association was seen between CYP2D6 genotype and plasma concentration of haloperidol. Duplication of the *2 allele also showed no association with plasma concentration of haloperidol.","sentence":"CYP2D6 *2 + *10 are not associated with increased metabolism of haloperidol as compared to CYP2D6 *1.","alleles":"*2 + *10","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699050,"variant_haplotypes":"rs10776850","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113763,"variant_haplotypes":"rs1294092","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele G is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC11573879","article_title":"Population Pharmacokinetic Quantification of CYP2D6 Activity in Codeine Metabolism in Ambulatory Surgical Patients for Model-Informed Precision Dosing","article_path":"articles/PMC11573879.md","variant_annotation_id":1452654860,"variant_haplotypes":"CYP2D6*10, CYP2D6*41","gene":"CYP2D6","drugs":"morphine","pmid":39441506,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"patients carrying the CYP2D6*41 allele had consistently higher AUC/F as compared with patients carrying the CYP2D6*10 allele.\" \"In accordance with these results, our study demonstrates that the CYP2D6*10 decreased function allele shows higher apparent CYP2D6 activity than the CYP2D6*41 allele\"","sentence":"CYP2D6 *41 is associated with increased exposure to morphine in people with Pain, Postoperative as compared to CYP2D6 *10.","alleles":"*41","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*10","comparison_metabolizer_types":null} +{"pmcid":"PMC5520553","article_title":"Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma","article_path":"articles/PMC5520553.md","variant_annotation_id":1448820570,"variant_haplotypes":"rs6865420","gene":"C6","drugs":"tacrolimus","pmid":28685716,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference was seen when considering DONOR genotype at week 3 of treatment. Patients with hepatocellular carcinoma.","sentence":"Genotype AC is not associated with dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotypes AA + CC.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5798599","article_title":"Development of a physiology-directed population pharmacokinetic and pharmacodynamic model for characterizing the impact of genetic and demographic factors on clopidogrel response in healthy adults","article_path":"articles/PMC5798599.md","variant_annotation_id":1447359923,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"clopidogrel","pmid":26524713,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In the Amish PAPI study, age, BMI, CYP2C19*2 polymorphism and CES1 G143E polymorphism were the only statistically significant (p < 0.01) covariates characterizing interindividual differences in clopidogrel elimination/bioactivation and on-treatment platelet reactivity.","sentence":"CYP2C19 *1/*2 + *2/*17 + *2/*2 are associated with decreased metabolism of clopidogrel in healthy individuals as compared to CYP2C19 *1/*1 + *1/*17.","alleles":"*1/*2 + *2/*17 + *2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17","comparison_metabolizer_types":null} +{"pmcid":"PMC5711795","article_title":"Pharmacogenetic study of seven polymorphisms in three nicotinic acetylcholine receptor subunits in smoking-cessation therapies","article_path":"articles/PMC5711795.md","variant_annotation_id":1449155990,"variant_haplotypes":"rs503464","gene":"CHRNA5","drugs":"bupropion, nicotine, varenicline","pmid":29196725,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors looked at the effect of variants on response to the smoking cessation therapies varenicline, bupropion and nicotine replacement therapy.","sentence":"Allele A is associated with increased response to bupropion, nicotine and varenicline in people with Tobacco Use Disorder as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6328871","article_title":"Effects of OPRM1 and ABCB1 gene polymorphisms on the analgesic effect and dose of sufentanil after thoracoscopic-assisted radical resection of lung cancer","article_path":"articles/PMC6328871.md","variant_annotation_id":1450932005,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"sufentanil","pmid":30455395,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the AA genotype had significantly increased sufentanil consumption compared to patients with the AG or GG genotypes, while those with the AG genotype had significantly increased compared to patients with the GG genotype. Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes AA + AG are associated with increased dose of sufentanil in people with Lung Neoplasms and Pain, Postoperative as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"\"Other:Lung Neoplasms\", \"Other:Pain, Postoperative\"","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3114195","article_title":"IL28B genetic variations are associated with high sustained virological response (SVR) of interferon-\u03b1 plus ribavirin therapy in Taiwanese chronic HCV infection","article_path":"articles/PMC3114195.md","variant_annotation_id":1444705508,"variant_haplotypes":"rs12980275","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":21346780,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype has decreased association with sustained virological response (SVR).","sentence":"Genotypes AG + GG is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3727245","article_title":"CYP2C8*3 predicts benefit/risk profile in breast cancer patients receiving neoadjuvant paclitaxel","article_path":"articles/PMC3727245.md","variant_annotation_id":827922827,"variant_haplotypes":"CYP2C8*1, CYP2C8*3","gene":"CYP2C8","drugs":"cyclophosphamide, doxorubicin","pmid":22527101,"phenotype_category":"Efficacy","significance":"no","notes":"Response = complete clinical response (cCR). 9.0% vs 10.3%.","sentence":"CYP2C8 *1/*3 + *3/*3 is not associated with increased response to cyclophosphamide and doxorubicin in women with Breast Neoplasms as compared to CYP2C8 *1/*1.","alleles":"*1/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928092,"variant_haplotypes":"rs6706232","gene":"UGT1A3","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"The A allele was initially significantly more frequent in patients designated as responders to risperidone (i.e. >50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.","sentence":"Allele A is associated with increased response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373150,"variant_haplotypes":"rs675026","gene":"OPRM1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not significantly associated with compliance with methadone maintenance therapy or 'negative rate of morphine urine test'.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to methadone in people with Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4119242","article_title":"Influence of TCF7L2 gene variants on the therapeutic response to the dipeptidylpeptidase-4 inhibitor linagliptin","article_path":"articles/PMC4119242.md","variant_annotation_id":1452876319,"variant_haplotypes":"rs7903146","gene":"TCF7L2","drugs":"linagliptin","pmid":24906949,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Linagliptin lowered HbA1c meaningfully in all three genotypes of rs7903146 (non-risk variant carriers CC [n\u2009=\u2009356]: \u22120.82% [\u22129.0 mmol/mol], p\u2009<\u20090.0001; heterozygous CT [n\u2009=\u2009264]: \u22120.77% [\u22128.4 mmol/mol], p\u2009<\u20090.0001; homozygous risk variant carriers TT [n\u2009=\u200973]: \u22120.57% [\u22126.2 mmol/mol], p\u2009<\u20090.0006). No significant treatment differences were seen between CC and CT patients, although HbA1c response was reduced in TT compared with CC patients (~0.26% [~2.8 mmol/mol], p\u2009=\u20090.0182).\"","sentence":"Genotypes CC + CT is associated with increased clinical benefit to linagliptin in people with Diabetes Mellitus, Type 2 as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC7649675","article_title":"Pharmacogenetics of TNF inhibitor\u00a0response in rheumatoid arthritis utilizing the two-component disease activity score","article_path":"articles/PMC7649675.md","variant_annotation_id":1451293868,"variant_haplotypes":"rs17301249","gene":"EYA4","drugs":"adalimumab, certolizumab pegol, etanercept, infliximab, Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":33124499,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by change in 2C-DAS28. Table 2 shows change was a positive value for this variant suggesting increased 2C-DAS28 and less response, it was not attributed to a particular allele at this rs number location so assumed minor allele based on dbSNP frequencies.","sentence":"Allele C is associated with decreased response to adalimumab, certolizumab pegol, etanercept, infliximab or Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449558050,"variant_haplotypes":"rs2244500","gene":"TYMS","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2684883","article_title":"CYP4F2 Is a Vitamin K1 Oxidase: An Explanation for Altered Warfarin Dose in Carriers of the V433M Variant","article_path":"articles/PMC2684883.md","variant_annotation_id":1183700215,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"Vitamin K and analogues","pmid":19297519,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Human Liver Microsomes carrying T had lower vitamin K1 oxidation as well as a decreased steady-state hepatic concentration of Vitamin K1 oxidase. HLM-CC: generated metabolite at 0.85 pmol/min/mg microsomal protein. CT: 0.44 pmol/min/mg; TT: 0.21 pmol/min/mg.; Amount of CYP4F2: CC:11.3 pmol/mg microsomal protein; CT:7.2 pmol/mg; TT: 2.5 pmol/mg.","sentence":"Allele T is associated with decreased metabolism of Vitamin K as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2976128","article_title":"Pharmacokinetics and Pharmacogenomics of Once-Daily Raltegravir and Atazanavir in Healthy Volunteers","article_path":"articles/PMC2976128.md","variant_annotation_id":1184998726,"variant_haplotypes":"UGT1A1*28","gene":"UGT1A1","drugs":"raltegravir","pmid":20823282,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Only one participant was homozygous for 2 UGT1A1 reduced-function alleles and had the lowest raltegravir-glucuronide/raltegravir ratio regardless of atazanavir dosing. Using linear mixed-effect modeling, participants with 1 or 2 reduced-function alleles had nearly identical ratio compared to those with the reference UGT1A *1/*1. In linear regression analysis after adjusting for atazanavir, the ratio of raltegravir-glucuronide AUC to the raltegravir AUC was no different in those with reduced-function alleles than in those with the reference allele (1.19-fold change).","sentence":"UGT1A1 *28 is not associated with metabolism of raltegravir in healthy individuals.","alleles":"*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5932771","article_title":"Optimal predictor for 6-mercaptopurine intolerance in Chinese children with acute lymphoblastic leukemia: NUDT15, TPMT, or ITPA genetic variants?","article_path":"articles/PMC5932771.md","variant_annotation_id":1449750257,"variant_haplotypes":"rs1127354","gene":"ITPA","drugs":"mercaptopurine","pmid":29720126,"phenotype_category":"Dosage, Toxicity","significance":"no","notes":"as measured by 6-MP dose intensity, which is a measure dose adjustment due to toxicity calculated by the ratio of the prescribed 6-MP dose over the protocol dose of 50 mg/m2/d.","sentence":"Allele A is not associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele C.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449558016,"variant_haplotypes":"rs1703794","gene":null,"drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729080,"variant_haplotypes":"rs1057911","gene":"CYP2C9","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotype AT is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype AA.","alleles":"AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3624039","article_title":"Methacholine PC20 In African Americans And Whites With Asthma With Homozygous Genotypes at ADRB2 Codon 16","article_path":"articles/PMC3624039.md","variant_annotation_id":1183682206,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"methacholine","pmid":23384627,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AA genotype had lower log PC20 (provocative concentration of methacholine that causes a 20% fall in FEV1) compared to those with the GG genotype, indicating increased airway reactivity and an increased risk of worse asthma outcomes. Please note that this genotype was compared within African Americans, and between African Americans (AA genotype) and Whites (GG genotype). However, allele frequencies were the same between the two ethnicities in this population. African Americans n=45, Whites n=43.","sentence":"Genotype AA is associated with decreased response to methacholine in people with Asthma as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4025175","article_title":"The influence of CYP3A, PPARA, and POR genetic variants on the pharmacokinetics of tacrolimus and cyclosporine in renal transplant recipients","article_path":"articles/PMC4025175.md","variant_annotation_id":1184470358,"variant_haplotypes":"rs4823613","gene":"PPARA","drugs":"tacrolimus","pmid":24658827,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"A single steady-state concentration of tacrolimus was collected for each patient 2-7 wks post-transplant and compared to dose of tacrolimus administered to patients at Oslo University Hospital. Reported concentrations are \"steady-state dose-adjusted concentration\" of tacrolimus. Steady-state is defined as at least 3 days after last dose adjustment for Tac and 4 days for cyclosporine.","sentence":"Allele G is associated with decreased metabolism of tacrolimus in people with Kidney Transplantation as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3401172","article_title":"An Acenocoumarol Dosing Algorithm Using Clinical and Pharmacogenetic Data in Spanish Patients with Thromboembolic Disease","article_path":"articles/PMC3401172.md","variant_annotation_id":1448259338,"variant_haplotypes":"CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"acenocoumarol","pmid":22911785,"phenotype_category":"Dosage","significance":"yes","notes":"CYP2C9 variants were significantly associated with acenocoumarol dose, and explained 11.7% of the variability in dose. Clinical variables (Age, BMI, Enzyme inducers status and Amiodarone status) explained 22% of the variability in dose. This study developed an algorithm for acenocoumarol dosing using clinical and pharmacogenetic data.","sentence":"CYP2C9 *2 + *3 is associated with dose of acenocoumarol.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3553682","article_title":"Impact of Pharmacogenetic Markers of CYP2B6, Clinical Factors, and Drug-Drug Interaction on Efavirenz Concentrations in HIV/Tuberculosis-Coinfected Patients","article_path":"articles/PMC3553682.md","variant_annotation_id":1183491412,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":23254426,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As shown by increased plasma concentrations (units = mg/L) for those with the TT genotype compared to those with the GG genotype. Fasting plasma efavirenz concentrations were measured 12 hours after the last dose, and after 12 weeks of treatment.","sentence":"Genotype TT is associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4099069","article_title":"ERCC1 Cys8092Ala and XRCC1 Arg399Gln Polymorphisms Predict Progression-Free Survival after Curative Radiotherapy for Nasopharyngeal Carcinoma","article_path":"articles/PMC4099069.md","variant_annotation_id":1184754301,"variant_haplotypes":"rs25487","gene":"XRCC1","drugs":"cisplatin, radiotherapy","pmid":25025378,"phenotype_category":"Efficacy","significance":"yes","notes":"All patients had stage II-IV nasopharyngeal cancer and progression free survival (PFS) was the primary endpoint.","sentence":"Genotype TT is associated with decreased response to cisplatin and radiotherapy in people with Nasopharyngeal Neoplasms and Tobacco Use Disorder as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Nasopharyngeal Neoplasms, Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC10970167","article_title":"PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis","article_path":"articles/PMC10970167.md","variant_annotation_id":1452433550,"variant_haplotypes":"rs2305795","gene":"EIF3G, P2RY11, PPAN-P2RY11","drugs":"apremilast","pmid":38540428,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Allele-based association tests detected 64 SNPs displaying nominal p values < 0.05 (Table 2) including 10 SNPs with p values \u2264 0.01. \" Table 2 shows frequency of minor allele is responders and non-responders. Responder status maybe defined by PASI score improvement greater than 75% after 24\u201336 weeks of treatment.","sentence":"Allele G is associated with increased clinical benefit to apremilast in people with Psoriasis as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981793945,"variant_haplotypes":"rs2072671","gene":"CDA","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AA genotype had a better response to gemcitabine therapy than patients with either the AC or the CC genotype. However, progression free survival did not significantly differ between genotype groups. There were four SNPs in this study that, when taken together, affected progression free survival: rs183484, rs2072671, rs760370, and rs9937. Using patients with 0 or 1 variant as reference, patients with 2 variants had an increased HR of 1.79 (P = 0.004) and patients with 3-4 variants has an increased HR of 3.25 (P < 0.001). There were also two SNPs in this study that, when taken together, affected tumor response to therapy: rs2072671 and rs760370. Using patients with 0 variants as reference, patients with 1-2 variants had an increased OR of 3.40 (P = 0.004).","sentence":"Genotype AA is associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479826,"variant_haplotypes":"rs651430","gene":"CYP3A43","drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5563830","article_title":"Association of ABCB1 Gene Polymorphisms with Efficacy and Adverse Reaction to Risperidone or Paliperidone in Han Chinese Schizophrenic Patients","article_path":"articles/PMC5563830.md","variant_annotation_id":1448604057,"variant_haplotypes":"rs12535512","gene":"ABCB1","drugs":"risperidone","pmid":27456824,"phenotype_category":"Efficacy","significance":"yes","notes":"Efficacy measured with reduction in PANSS total score reduced rate.","sentence":"Genotypes CC + CT are not associated with response to risperidone in people with Schizophrenia as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6451710","article_title":"Impact of CYP3A4*22 on Pazopanib Pharmacokinetics in Cancer Patients","article_path":"articles/PMC6451710.md","variant_annotation_id":1451639980,"variant_haplotypes":"rs2231137","gene":"ABCG2","drugs":"pazopanib","pmid":30367352,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No homozygous TT observed. Alleles complemented to plus chromosomal strand.","sentence":"Genotype CT is not associated with decreased clearance of pazopanib in people with Neoplasms as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5818817","article_title":"Effect of Genotype-Guided Warfarin Dosing on Clinical Events and Anticoagulation Control Among Patients Undergoing Hip or Knee Arthroplasty: The GIFT Randomized Clinical Trial","article_path":"articles/PMC5818817.md","variant_annotation_id":1449269209,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":28973620,"phenotype_category":"Dosage","significance":"not stated","notes":null,"sentence":"Allele T is associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934368,"variant_haplotypes":"rs869312399","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the C allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Pro259Arg in the paper.","sentence":"Allele C is associated with increased response to migalastat in people with Fabry Disease.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163292,"variant_haplotypes":"rs3745274","gene":"CYP2A7P1, CYP2B6","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3055457","article_title":"Gender-Specific Association of Galanin Polymorphisms with HPA-Axis Dysregulation, Symptom Severity, and Antidepressant Treatment Response","article_path":"articles/PMC3055457.md","variant_annotation_id":981754640,"variant_haplotypes":"rs948854","gene":"GAL","drugs":"antidepressants, benzodiazepine derivatives, mirtazapine, Selective serotonin reuptake inhibitors","pmid":20237460,"phenotype_category":"Efficacy","significance":"yes","notes":"This was specific to premenopausal women(not seen in postmenopausal women or in men). The same allele was associated with more severe vegetative but not cognitive depressive symptoms. Patients were on a variety of therapies, with the three largest groups being SSRIs,Tricyclics, and Mirtazapine.","sentence":"Allele C is associated with decreased response to antidepressants, benzodiazepine derivatives, mirtazapine or Selective serotonin reuptake inhibitors in women Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC11393095","article_title":"Impact of CYP2D6*2, CYP2D6*35, rs5758550, and related haplotypes on risperidone clearance in vivo","article_path":"articles/PMC11393095.md","variant_annotation_id":1452518420,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*9, CYP2D6*10, CYP2D6*35, CYP2D6*41","gene":"CYP2D6","drugs":"risperidone","pmid":38963454,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The clearances attributable to the alleles or haplotypes; of primary interest were estimated at 30% for CYP2D6*2-; rs5758550A, 66% for CYP2D6*2-rs5758550G, and 57% for CYP2D6*35, relative to the clearance for *1 (Fig. 1). For the; remaining decreased function alleles *9, *10, and *41, the; allele-specific clearances were estimated to be 39%, 32%, and; 15%, respectively, relative to the clearance for *1\" \"Each evaluated CYP2D6 allele was associated with significantly lower risperidone clearance than the reference normal function allele CYP2D6*1 (p\u2009<\u20090.001).\"","sentence":"CYP2D6 *2 + *9 + *10 + *35 + *41 is associated with decreased clearance of risperidone as compared to CYP2D6 *1.","alleles":"*2 + *9 + *10 + *35 + *41","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4168390","article_title":"Characterizing variability in warfarin dose requirements in children using modelling and simulation","article_path":"articles/PMC4168390.md","variant_annotation_id":1184654456,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":24330000,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"A model was created to predict maintenance doses for children of different ages, all with a baseline INR of 1 and a target INR of 2.5, based on longitudinal data from children taking warfarin. Though there was a trend for a higher dose per T allele, CYP4F2 genotype was not retained in the final model. CYP2C9 genotype, VKORC1 genotype, bodyweight, age, baseline INR, target INR and time since initiation of therapy were all found to be significant causes of warfarin dose variability in children.","sentence":"Allele T is not associated with increased dose of warfarin in children with Heart Diseases as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184756280,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"yes","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\" rs2108622 was not significantly associated with warfarin maintenance dose in the first cohort but was significant in the multivariate analysis.","sentence":"Allele C is associated with decreased dose of warfarin in people with heart valve replacement as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC8758337","article_title":"OPRM1 moderates daily associations of naltrexone adherence with alcohol consumption: Preliminary evidence from a mobile health trial","article_path":"articles/PMC8758337.md","variant_annotation_id":1451143900,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"naltrexone","pmid":32020635,"phenotype_category":"Efficacy","significance":"no","notes":"There was no significant main effect of rs1799971 genotype on alcohol craving or consumption during naltrexone treatment. However, the authors found that the G allele significantly moderated the interaction between adherence to naltrexone and same-day alcohol consumption.","sentence":"Allele G is not associated with response to naltrexone in people with Alcoholism as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5135610","article_title":"Genetic polymorphisms in the long noncoding RNA MIR2052HG offer a pharmacogenomic basis for the response of breast cancer patients to aromatase inhibitor therapy","article_path":"articles/PMC5135610.md","variant_annotation_id":1449002496,"variant_haplotypes":"rs4735715","gene":null,"drugs":"anastrozole, exemestane","pmid":27758888,"phenotype_category":"Efficacy","significance":"no","notes":"Patients included postmenopausal women with resected stage I\u2013III breast cancer that was ERa and/or PgR positive and randomized to five years of anastrozole or exemestane. Did not reach statistical significance for GWAS (P<5 x 10^-8).","sentence":"Allele A is not associated with increased response to anastrozole and exemestane in women with Breast Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4002970","article_title":"IGF2BP2 variations influence repaglinide response and risk of type 2 diabetes in Chinese population","article_path":"articles/PMC4002970.md","variant_annotation_id":981502270,"variant_haplotypes":"rs4402960","gene":"IGF2BP2","drugs":"repaglinide","pmid":20523342,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"The parameter that showed enhanced response was PINS(postprandial serum insulin) . The authors noted that the T allele frequency was higher in the Type 2 Diabetes patients than in the healthy controls when the entire trial population of 350 patients and 207 controls was assayed (T freq = 0.2714 vs 0.2126) . The subset of patients treated with repaglinide all had the same CYP2C8 genotypes(with respect to *3- but exact genotypes not given) and SLCO1B1 genotypes(with respect to *1B,*5 and *15, but exact genotypes not given) .","sentence":"Genotypes GT + TT are associated with increased response to repaglinide in people with Diabetes Mellitus, Type 2 as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC9820603","article_title":"Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks","article_path":"articles/PMC9820603.md","variant_annotation_id":1452570012,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan, zolmitriptan","pmid":36614097,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with clinical benefit to almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan or zolmitriptan in people with Migraine without Aura as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6510382","article_title":"VKORC1 and Novel CYP2C9 Variation Predict Warfarin Response in Alaska Native and American Indian People","article_path":"articles/PMC6510382.md","variant_annotation_id":1450370504,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":30821933,"phenotype_category":"Dosage","significance":"yes","notes":"in Alaska Native and American Indian People. This variant -1639G>A is significantly associated with stable warfarin dose, decreasing the dose required to achieve therapeutic INR by 1.7 mg/day per allele (t-test of coefficients, unadjusted P = 1.4e-05, Bonferroni adjusted P = 7.0e-05).","sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11418302","article_title":"CYP2C19 genotype and sodium channel blockers in lacosamide-treated children with epilepsy: two major determinants of trough lacosamide concentration or clinical response","article_path":"articles/PMC11418302.md","variant_annotation_id":1452616100,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"lacosamide","pmid":39314259,"phenotype_category":"Efficacy","significance":"no","notes":"\"Intriguingly, CYP2C19 *2 (rs4244285; G to A), but not *3 (rs4986893), was observed to be associated with the clinical response of LCM. Children carrying alleles GA or AA achieved better efficacy (Supplemental Table 4). Nevertheless, this association did not retain statistical significance after applying the Bonferroni correction for multiple comparisons. Moreover, the plasma trough concentration of LCM in nonresponders with wild GG genotypes was significantly lower than those responders with GA or AA genotypes (Figure 3). These findings suggest that individuals who have a better efficacy should have higher plasma concentrations, which was consistent with previous research.18,32 However, no statistical difference in concentration between responders and nonresponders was observed in our study.\"","sentence":"Genotypes AA + AG is associated with increased clinical benefit to lacosamide in children with Epilepsy as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491271,"variant_haplotypes":"rs6882321","gene":"SV2C","drugs":"risperidone","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype AA is not associated with response to risperidone in people with Schizophrenia as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003680,"variant_haplotypes":"rs3842","gene":"ABCB1","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to lumefantrine in women with Malaria and Pregnancy as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6942309","article_title":"Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene","article_path":"articles/PMC6942309.md","variant_annotation_id":1452831000,"variant_haplotypes":"ABCG8 deficiency","gene":"ABCG8","drugs":"ezetimibe","pmid":31901240,"phenotype_category":"Efficacy","significance":"yes","notes":"\"ezetimibe-atorvastatin combination therapy might be more beneficial in hypercholesterolemic patients with a mutation in ABCG5 or ABCG8 gene.\" Variants identified were c.55G\u2009>\u2009C (p.Asp19His) rs11887534, c.1226A\u2009>\u2009G (p.Asn409Ile) rs150977210, c.1256\u2009T\u2009>\u2009A (p.Ile419Asn) rs201659189, c.1285A\u2009>\u2009G (p.Met429Val) rs147194762, c.1763C\u2009>\u2009A (p.Ala588Glu) rs377433853, c.1798\u2009T\u2009>\u2009G (p.Phe600Val) not found. Rs numbers for some variants mapped by manual curation of tables at ClinVar.","sentence":"ABCG8 deficiency is associated with increased clinical benefit to ezetimibe in people with Familial hypercholesterolemia.","alleles":null,"specialty_population":null,"metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Familial hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3038469","article_title":"Genetic and nongenetic factors associated with warfarin dose requirements in Egyptian patients","article_path":"articles/PMC3038469.md","variant_annotation_id":827864556,"variant_haplotypes":"rs429358","gene":"APOC1, APOE","drugs":"warfarin","pmid":21228733,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin in people with haplotype epsilon2.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:haplotype epsilon2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5346382","article_title":"Effects of FMO3 Polymorphisms on Pharmacokinetics of Sulindac in Chinese Healthy Male Volunteers","article_path":"articles/PMC5346382.md","variant_annotation_id":1448613027,"variant_haplotypes":"rs2266780","gene":"FMO3","drugs":"sulindac","pmid":28331852,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Measures of exposure were AUC, Cmax, Tmax, and T1/2.","sentence":"Genotype GG is associated with increased exposure to sulindac in healthy individuals as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896117,"variant_haplotypes":"rs1596996","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit). Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Allele T is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4484512","article_title":"Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis","article_path":"articles/PMC4484512.md","variant_annotation_id":1449192131,"variant_haplotypes":"rs121909047","gene":"CFTR","drugs":"lumacaftor","pmid":26137539,"phenotype_category":"Efficacy","significance":"yes","notes":"A561E allele. Study carried out using primary bronchial epithelial cells from donors with cystic fibrosis. Secretion of chloride ions across the cell membrane was measured to determine CFTR activity.","sentence":"Genotype AA is associated with response to lumacaftor.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981793894,"variant_haplotypes":"rs1048977","gene":"CDA","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Tumor response to therapy, progression free survival, and risk of neutropenia development did not significantly differ between genotype groups.","sentence":"Genotype CC is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3872414","article_title":"Polymorphisms of MTHFR Associated with Higher Relapse/Death Ratio and Delayed Weekly MTX Administration in Pediatric Lymphoid Malignancies","article_path":"articles/PMC3872414.md","variant_annotation_id":1451506600,"variant_haplotypes":"rs11045879","gene":"SLCO1B1","drugs":"methotrexate","pmid":24386571,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in relapse-free survival between genotype groups.","sentence":"Allele C is not associated with response to methotrexate in children with Lymphoma, Non-Hodgkin or Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Non-Hodgkin Lymphoma, Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491258,"variant_haplotypes":"rs1995380","gene":"SV2C","drugs":"risperidone","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype GG is not associated with response to risperidone in people with Schizophrenia as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} +{"pmcid":"PMC2859392","article_title":"Effects of CYP2B6 G516T polymorphisms on plasma efavirenz and nevirapine levels when co-administered with rifampicin in HIV/TB co-infected Thai adults","article_path":"articles/PMC2859392.md","variant_annotation_id":1184988061,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":20338069,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Association with significantly increased efavirenz plasma levels. Was significant at week 6, 12 of treatment and 1 month after rifampicin discontinuation.","sentence":"Genotype TT is associated with decreased metabolism of efavirenz in people with HIV Infections and Tuberculosis as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease, Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC3902809","article_title":"Clinical Impact of Cytochrome P450 2C19 Genotype on the Treatment of Invasive Aspergillosis under Routine Therapeutic Drug Monitoring of Voriconazole in a Korean Population","article_path":"articles/PMC3902809.md","variant_annotation_id":1444841988,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":24475354,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The percentage of patients with an out-of-range (i.e. below-range) initial trough level differed significantly between extensive metabolizers (*1/*1, *1/*17), heterozygous extensive metabolizers (*1/*2, *1/*3) and poor metabolizers (*2/*2, *2/*3): 46% vs 26% vs 0% respectively. No significant difference was seen when considering above-range levels.","sentence":"CYP2C19 *1/*1 + *1/*17 is associated with decreased trough concentration of voriconazole in people with Hematologic Diseases as compared to CYP2C19 *1/*2 + *1/*3 + *2/*2 + *3/*3.","alleles":"*1/*1 + *1/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hematologic Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*3 + *2/*2 + *3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC3245828","article_title":"A Common \u03b21-Adrenergic Receptor Polymorphism Predicts Favorable Response to Rate Control Therapy in Atrial Fibrillation","article_path":"articles/PMC3245828.md","variant_annotation_id":827816346,"variant_haplotypes":"rs1801252","gene":"ADRB1","drugs":"atenolol, carvedilol, diltiazem, metoprolol, verapamil","pmid":22192668,"phenotype_category":"Efficacy","significance":"no","notes":"Reported as 52% responders in carriers of minor allele group vs. 55% in Ser49Ser. Ser corresponds to A on the + strand. [stat_test:chi square].","sentence":"Genotypes AG + GG are not associated with increased response to atenolol, carvedilol, diltiazem, metoprolol or verapamil in people with Atrial Fibrillation as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981732098,"variant_haplotypes":"rs4149601","gene":"NEDD4L","drugs":"hydrochlorothiazide","pmid":23353631,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to hydrochlorothiazide in people with Hypertension as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5440888","article_title":"Lumacaftor/Ivacaftor in Patients Aged 6\u201311 Years with Cystic Fibrosis and Homozygous for F508del-CFTR","article_path":"articles/PMC5440888.md","variant_annotation_id":1449192632,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor, lumacaftor","pmid":27805836,"phenotype_category":"Efficacy","significance":"yes","notes":"F508del allele. Improvements seen in sweat chloride levels, BMI, CFQ-R score and LCI2.5 following 24 weeks of ivacaftor treatment.","sentence":"Genotype del/del is associated with response to ivacaftor and lumacaftor in children with Cystic Fibrosis.","alleles":"del/del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5101708","article_title":"Low heritability in pharmacokinetics of talinolol: a pharmacogenetic twin study on the heritability of the pharmacokinetics of talinolol, a putative probe drug of MDR1 and other membrane transporters","article_path":"articles/PMC5101708.md","variant_annotation_id":1448612419,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"talinolol","pmid":27825374,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was a twin study of monozygotic and dizygotic twins.","sentence":"Allele C is not associated with clearance of talinolol in healthy individuals as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5346034","article_title":"Effect of UGT2B10, UGT2B17, FMO3, and OCT2 Genetic Variation on Nicotine and Cotinine Pharmacokinetics and Smoking in African Americans","article_path":"articles/PMC5346034.md","variant_annotation_id":1448602077,"variant_haplotypes":"rs61750900","gene":"UGT2B10","drugs":"cotinine","pmid":28178031,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This SNP is not associated with the pharmacokinetic measures of cotinine.","sentence":"Genotype GG is not associated with metabolism of cotinine in people with Tobacco Use Disorder as compared to genotype GT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT","comparison_metabolizer_types":null} +{"pmcid":"PMC5612381","article_title":"CYP2B6 Genotypes and Early Efavirenz-based HIV Treatment Outcomes in Botswana","article_path":"articles/PMC5612381.md","variant_annotation_id":1448636182,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"efavirenz","pmid":28692529,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"This is for CYP2B6 983T>C.","sentence":"Genotypes CC + CT is associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3692386","article_title":"Does CALU SNP rs1043550 Contribute Variability to Therapeutic Warfarin Dosing Requirements?","article_path":"articles/PMC3692386.md","variant_annotation_id":1184165651,"variant_haplotypes":"rs1043550","gene":"CALU","drugs":"warfarin","pmid":23656803,"phenotype_category":"Dosage","significance":"no","notes":"No significant differences in therapeutic warfarin dose (mg/wk) or error in predicted dose were seen between any of the genotypes (AA, AG, GG). Note that the study cohort differed from Hardy-Weinberg equilibrium.","sentence":"Allele A is not associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC12043259","article_title":"Pharmacogenetics of plasma dolutegravir exposure during 1-month rifapentine/isoniazid treatment of latent tuberculosis","article_path":"articles/PMC12043259.md","variant_annotation_id":1452856180,"variant_haplotypes":"rs1803155","gene":"AADAC","drugs":"dolutegravir","pmid":39960813,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"At day 0, there was no association between AADAC; rs1803155 and dolutegravir Ctrough. ... day 28, AADAC rs1803155 was associated with; dolutegravir Ctrough. Compared with rs1803155 AA poor; metabolizers, day 28 Ctrough was higher in AG intermediate metabolizers (GMR = 1.48; 90% CI: 1.14\u20131.90), and; in GG normal metabolizers (GMR = 1.79; 90% CI: 1.09\u2013; 2.93). Relationships between AADAC rs1803155 genotype and dolutegravir Ctrough are shown in Fig. 1b\"","sentence":"Genotypes AG + GG is associated with increased dose-adjusted trough concentrations of dolutegravir in people with HIV infectious disease and Tuberculosis as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease, Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4116556","article_title":"Concentration of Tacrolimus and Major Metabolites in Kidney Transplant Recipients as a Function of Diabetes Mellitus and Cytochrome P450 3A Gene Polymorphism","article_path":"articles/PMC4116556.md","variant_annotation_id":1184514528,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":23278282,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Dose normalized trough and 2-hr post dose dose-adjusted tacrolimus blood levels were lower in CYP3A5 expresser (CYP3A5*1 carriers, n=15) than in non-expresser (CYP3A5*3/*3 homozygotes, n=33). Dose adjusted blood levels of metabolites 15-O-desmethyl tacrolimus, but not 13-O-desmethyl tacrolimus at 12hr post-dose, were also lower in CYP3A5 expressers than in CYP3A5 non-expressers.","sentence":"Genotypes CT + TT are associated with increased metabolism of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4445755","article_title":"Genetic variants in combination with early partial improvement as a clinical utility predictor of treatment outcome in major depressive disorder: the result of two pooled RCTs","article_path":"articles/PMC4445755.md","variant_annotation_id":1447681357,"variant_haplotypes":"rs1449683","gene":"FGF2","drugs":"fluvoxamine","pmid":25710119,"phenotype_category":"Efficacy","significance":"yes","notes":"depressive symptoms measured on Hamilton Rating Scale for Depression and outcome as change in symptoms, as measured 6 weeks after drug, following 10 days washout.","sentence":"Genotypes CC + CT are associated with decreased response to fluvoxamine in people with Depressive Disorder as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3092713","article_title":"Integration of population pharmacokinetics and pharmacogenetics: an aid to optimal nevirapine dose selection in HIV-infected individuals","article_path":"articles/PMC3092713.md","variant_annotation_id":827861853,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"nevirapine","pmid":21441248,"phenotype_category":"Toxicity, Metabolism/PK","significance":"not stated","notes":"The 983TC genotype decreased clearance of Nevirapine by 40%.","sentence":"Genotype CT is associated with decreased clearance of nevirapine in people with HIV Infections as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3621246","article_title":"Combined approach with therapeutic drug monitoring and pharmacogenomics in renal transplant recipients","article_path":"articles/PMC3621246.md","variant_annotation_id":1184515016,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":23580812,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"This is a case report of one woman in India. She had noted elevated maintenance tacrolimus levels despite low doses of the drug (2 mg/day). She was genotyped for CYP3A5 and ABCB1 alleles. She was mutant homozygous for CYP3A5*3(CC) alleles and MDR1-2677(TT) alleles, heterozygous for MDR1-1236(CT) alleles and wild-type homozygous for CYP3A5*6 (GG) and MDR1 3435C (CC) alleles. The author concluded this explained her elevated levels.","sentence":"Genotype CC is associated with decreased metabolism of tacrolimus in Kidney Transplantation.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954096,"variant_haplotypes":"rs2859388","gene":"PER3","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3628804","article_title":"The correlation between post-operative fentanyl requirements and \u03bc-opioid receptor gene A118G polymorphism in patients undergoing radical gastrectomy","article_path":"articles/PMC3628804.md","variant_annotation_id":1449716657,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"fentanyl","pmid":23599738,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930622,"variant_haplotypes":"rs667282","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"The C allele was initially associated with an increased likelihood of being a smoker but this lost significance following correction for multiple testing.","sentence":"Allele C is not associated with exposure to nicotine in men as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113825,"variant_haplotypes":"rs511435","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy. This is a C/G/T SNP. Based on allele frequencies reported in dbSNP, it is assumed that the major allele in this study is C and the minor allele is T. Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3931261","article_title":"Novel CYP2A6 variants identified in African Americans are associated with slow nicotine metabolism in vitro and in vivo","article_path":"articles/PMC3931261.md","variant_annotation_id":1452442404,"variant_haplotypes":"CYP2A6*1, CYP2A6*41","gene":"CYP2A6","drugs":"nicotine","pmid":24305170,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Association with lower activity of the novel variant groups [CYP2A6*39 (V68M), CYP2A6*40 (I149M), CYP2A6*41 (R265Q; rs140471703), CYP2A6*42 (I268T), CYP2A6*43 (T303I), CYP2A6*44 (E390K; rs376817657), CYP2A6*44 (L462P)] was; tested using a one-way analysis of variance with Bonferroni tests used for post-hoc analysis, P<0.01. A comparison between CYP2A6*1/*1 and; the combined group was tested using an unpaired t-test, ***P<0.001","sentence":"CYP2A6 *41 is associated with decreased metabolism of nicotine as compared to CYP2A6 *1.","alleles":"*41","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6855320","article_title":"CYP2C19 and STAT6 Variants Influence the Outcome of Proton Pump Inhibitor Therapy in Pediatric Eosinophilic Esophagitis","article_path":"articles/PMC6855320.md","variant_annotation_id":1451273761,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"esomeprazole","pmid":31490856,"phenotype_category":"Efficacy","significance":"yes","notes":"children who were carriers of CYP2C19\udbff\udc0017 GOF had 8.2-fold better odds of receiving a PPI-nonresponsive EoE diagnosis than children who did not carry CYP2C19\udbff\udc0017 GOF (PPI-REE OR [95% CI] = 0.12 [0.02,0.67], P = 0.02; complete PPI-REE outcome OR [95% CI] = 0.15[0.03, 0.94], P = 0.04. GOF phenotype that characterizes EMs is defined as carriers of 1 or 2 copies of rs12248560 (diplotypes *1/*17 + *17/*17) without rs4244285 (*2). Most individuals within the pH probe cohort received a PPI dose within the range of \udbff\udc031.569 to <2.075 mg/kg/ day, which corresponds well with the IQR dose range of \udbff\udc031.54 to <2.05 mg/kg/day for the full cohort.","sentence":"CYP2C19 *17 is associated with decreased response to esomeprazole in children with eosinophilic esophagitis as compared to CYP2C19 *1/*1.","alleles":"*17","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:eosinophilic esophagitis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":982043737,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"no","notes":"No significant change in the likelihood of a woman reaching a target mean arterial pressure concentration of <= 92 mmHg or <= 107 mmHg was seen between genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is not associated with response to amlodipine in women with Hypertension as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5711795","article_title":"Pharmacogenetic study of seven polymorphisms in three nicotinic acetylcholine receptor subunits in smoking-cessation therapies","article_path":"articles/PMC5711795.md","variant_annotation_id":1449156016,"variant_haplotypes":"rs2236196","gene":"CHRNA4","drugs":"bupropion, nicotine, varenicline","pmid":29196725,"phenotype_category":"Efficacy","significance":"no","notes":"Authors looked at the effect of variants on response to the smoking cessation therapies varenicline, bupropion and nicotine replacement therapy.; It is assumed that the authors tested the association between the G allele and nicotine dependence as compared to both the A and del alleles.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to bupropion, nicotine and varenicline in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC11933031","article_title":"Effect of CYP3A5 genotypes on pharmacokinetic of tacrolimus in colombian liver transplant patients","article_path":"articles/PMC11933031.md","variant_annotation_id":1453085302,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":40135234,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Patients with CYP3A5 expressors displayed lower C0 and C0/dose ratio and higher doses than those no expressors, Table 1. We observed a lower C0/dose ratio in expresser recipients over 2 years of follow-up (Figure 1) (Table 2).\" \"This study reveals that expressing recipient patients presented significantly (p < 0.001) lower Co/dose, compared to non-expressing recipients, regardless of the genotype of the donor\u2019s liver in the first weeks after transplantation. \"","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Liver transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC5404990","article_title":"A cis-eQTL in OPRM1 is Associated with Subjective Response to Alcohol and Alcohol Use","article_path":"articles/PMC5404990.md","variant_annotation_id":1450824458,"variant_haplotypes":"rs3778150","gene":"OPRM1","drugs":"ethanol","pmid":28273335,"phenotype_category":"Dosage","significance":"yes","notes":"Subjects carrying the C allele had significantly higher drinking levels compared to individuals with the TT genotype.","sentence":"Genotypes CC + CT are associated with increased dose of ethanol as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3260990","article_title":"Smoking Cessation Pharmacogenetics: Analysis of Varenicline and Bupropion in Placebo-Controlled Clinical Trials","article_path":"articles/PMC3260990.md","variant_annotation_id":1450813804,"variant_haplotypes":"rs8109525","gene":"CYP2B6","drugs":"bupropion","pmid":22048466,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the GG genotypes were more likely to have quit smoking in weeks 9-12 of varenicline treatment and at 52 weeks of follow-up.","sentence":"Genotype GG is associated with increased response to bupropion in people with Tobacco Use Disorder as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3860742","article_title":"RRM1 and RRM2 pharmacogenetics: association with phenotypes in HapMap cell lines and acute myeloid leukemia patients","article_path":"articles/PMC3860742.md","variant_annotation_id":1183700217,"variant_haplotypes":"rs1130609","gene":"RRM2","drugs":"cladribine, cytarabine","pmid":24024897,"phenotype_category":"Efficacy","significance":"yes","notes":"As measured by a poorer overall survival.","sentence":"Genotypes GT + TT is associated with decreased response to cladribine and cytarabine in children with Leukemia, Myeloid, Acute as compared to genotype GG.","alleles":"GT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3567337","article_title":"Genome-wide study of methotrexate clearance replicates SLCO1B1","article_path":"articles/PMC3567337.md","variant_annotation_id":981483674,"variant_haplotypes":"rs11045872","gene":"SLCO1B1","drugs":"methotrexate","pmid":23233662,"phenotype_category":"Efficacy, Toxicity, Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is associated with increased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4479153","article_title":"Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response","article_path":"articles/PMC4479153.md","variant_annotation_id":1444703466,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"allopurinol","pmid":25676789,"phenotype_category":"Efficacy","significance":"yes","notes":"The authors designated \"response to allopurinol\" as a reduction of serum uric acid levels to below 6 mg/dL. Mean age was 68 years, 75% were male. The elevated mean baseline SUA before treatment was 8.9 mg/dL. No other SNPs reached genome wide significance.","sentence":"Allele T is associated with decreased response to allopurinol in people with Gout as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Gout","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6423619","article_title":"Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19","article_path":"articles/PMC6423619.md","variant_annotation_id":1450935720,"variant_haplotypes":"rs145119820","gene":"CYP2C19","drugs":"mephenytoin","pmid":30745309,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In vitro analysis showed that intrinsic clearance of S-mephenytoin by CYP2C19 protein containing the A allele was 10.7% of that of the WT protein. Variant referred to as 337G>A in the paper.","sentence":"Allele A is associated with decreased clearance of mephenytoin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6081148","article_title":"Role of TNFRSF1A and TNFRSF1B polymorphisms in susceptibility, severity, and therapeutic efficacy of etanercept in human leukocyte antigen-B27-positive Chinese Han patients with ankylosing spondylitis","article_path":"articles/PMC6081148.md","variant_annotation_id":1449713726,"variant_haplotypes":"rs2234649","gene":"TNFRSF1A","drugs":"etanercept","pmid":30075559,"phenotype_category":"Efficacy","significance":"no","notes":"Response to etanercept was determined using the Assessment in Ankylosing Spondylitis 20 (ASAS20) and Assessment in Ankylosing Spondylitis 40 (ASAS40). No significant difference in response was seen between genotypes at either 3 months or 12 months after initiation of etanercept treatment. Please note that alleles have been complemented to the positive strand. Also note that there appears to be a typo in Figure 1 where rs2234649 is written as rs223464.","sentence":"Genotype GT is not associated with response to etanercept in people with Spondylitis, Ankylosing as compared to genotypes GG + TT.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Spondylitis, Ankylosing","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1448519775,"variant_haplotypes":"CYP3A4*1, CYP3A4*3","gene":"CYP3A4","drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant associations were seen between these *1B (\u2212329 A>G) and *3 (1334 T>C) and confirmed response rate, overall survival or time to progression in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01.","sentence":"CYP3A4 *1 + *3 are not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms.","alleles":"*1 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":982046676,"variant_haplotypes":"rs1043550","gene":"CALU","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"Daily dose of phenprocoumon is not significantly associated with this SNP. Daily dose is negatively correlated with age. This study published an algorithm for daily dose that includes height, although height was not significant in univariate analysis. This SNP is also not significantly associated with phenprocoumon concentration.","sentence":"Genotype AA is not associated with increased dose of phenprocoumon as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11786019","article_title":"The Role of Candidate Polymorphisms in Drug Transporter Genes on High\u2010Dose Methotrexate in the Consolidation Phase of the AIEOP\u2010BFM ALL 2009 Protocol","article_path":"articles/PMC11786019.md","variant_annotation_id":1452833080,"variant_haplotypes":"rs7317112","gene":"ABCC4","drugs":"methotrexate","pmid":39891427,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"MTX plasma levels at 24, 42, and 48 h were lower for young rs7317112 GG patients (group A) compared to rs7317112 non- GG teens (group D), with a clearly higher clearance of the drug (Figure\u00a02).\" \"ABCC4 SNP (rs7317112): Carriers of the variant GG genotype showed accelerated MTX clearance\"","sentence":"Genotype GG is associated with increased clearance of methotrexate in children with Acute lymphoblastic leukemia as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680871,"variant_haplotypes":"rs1054191","gene":"NR1I2","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype GG is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4155516","article_title":"Voriconazole plasma concentrations in immunocompromised pediatric patients vary by CYP2C19 diplotypes","article_path":"articles/PMC4155516.md","variant_annotation_id":1184748470,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":25084200,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Significantly lower trough concentrations (adjusted for daily dose) were observed in patients with the *17/*17 diplotype. All four patients with this diplotype had subtherapeutic levels - authors suggest that higher doses in these patients may overcome this. CYP2C19*17 was defined as rs12248560 c.-806C>T, *2A as rs4244285 c.681G>A, *2B as rs4244285 and rs17878459 c.276G>C, and *1 as none of these variants.","sentence":"CYP2C19 *17/*17 (assigned as ultrarapid metabolizer phenotype) is associated with decreased dose-adjusted trough concentrations of voriconazole in children with Neoplasms as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*17/*17","specialty_population":"Pediatric","metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238760,"variant_haplotypes":"rs1869295","gene":"AGAP1","drugs":"risperidone","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele C is associated with response to risperidone in people with Schizophrenia.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003619,"variant_haplotypes":"rs3842","gene":"ABCB1","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Median concentrations of lumefantrine 7 days after beginning treatment with artemether-lumefantrine were not significantly different and no more likely to have median concentrations of lumefantrine >600 ng/ml between genotypes.","sentence":"Allele C is not associated with concentrations of lumefantrine in women with Malaria and Pregnancy as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Other:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161695,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"methadone","pmid":21589866,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in concentrations of (R)-, (S)- or (R,S)-methadone concentrations between genotypes. No details about which specific variants/alleles were tested for.","sentence":"CYP2C19 *1/*2 + *2/*2 are not associated with concentrations of methadone in people with Opioid-Related Disorders as compared to CYP2C19 *1/*1.","alleles":"*1/*2 + *2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407420,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"morphine","pmid":31806881,"phenotype_category":"Efficacy","significance":"not stated","notes":"Nominally significant difference in pressure pain at the masseter between genotype groups, but this association was not seen in other pain modalities. Study-wide significance was set to p<0.017.","sentence":"Genotype AG is not associated with increased response to morphine in healthy individuals as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4820801","article_title":"Prediction of tacrolimus metabolism and dosage requirements based on CYP3A4 phenotype and CYP3A5*3 genotype in Chinese renal transplant recipients","article_path":"articles/PMC4820801.md","variant_annotation_id":1448640957,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":26924289,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The study also provided a regression equation to predict trough concentration and dose of tacrolimus based on CYP3A5 genotype, among other factors.","sentence":"CYP3A5 *3/*3 is associated with decreased dose of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC11773121","article_title":"Sub\u2010 and supratherapeutic efavirenz plasma concentrations with risk for HIV therapy failure are mainly genetically explained in Ugandan children: The prospective GENEFA cohort study","article_path":"articles/PMC11773121.md","variant_annotation_id":1452639906,"variant_haplotypes":"CYP2B6 intermediate metabolizer","gene":"CYP2B6","drugs":"efavirenz","pmid":39380207,"phenotype_category":"Efficacy","significance":"no","notes":"\"extensive metabolizer (EM), 516GGj983TT, intermediate metabolizer (IM), 516GGj983TC or 516GTj983TT, slow metabolizer (SM) 516GTj983TC or 516TTj983TT. \"HIV drug resistance at baseline, viraemia and acquisition of new HIV drug-resistant mutations at Week 24 were all more frequent among EM and IM compared to SM (n.s.) (Table S2).\"","sentence":"CYP2B6 normal metabolizer and intermediate metabolizer is associated with increased resistance to efavirenz in children with HIV infectious disease as compared to CYP2B6 poor metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"normal metabolizer and intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"poor metabolizer"} +{"pmcid":"PMC2935997","article_title":"The effects of CYP2D6 and CYP3A activities on the pharmacokinetics of immediate release oxycodone","article_path":"articles/PMC2935997.md","variant_annotation_id":1449003191,"variant_haplotypes":"CYP2D6 poor metabolizer genotype","gene":"CYP2D6","drugs":"oxymorphone","pmid":20590587,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The AUC for oxymorphone was significantly lower in poor metabolizers than in extensive metabolizers.","sentence":"CYP2D6 poor metabolizer is associated with decreased exposure to oxymorphone in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC10337687","article_title":"Association Between Vitamin D Receptor Polymorphism and the Response to Helicobacter Pylori Treatment","article_path":"articles/PMC10337687.md","variant_annotation_id":1452156500,"variant_haplotypes":"rs2228570","gene":"VDR","drugs":"amoxicillin, clarithromycin, omeprazole","pmid":37449247,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented to plus chromosomal strand.","sentence":"Allele A is associated with increased response to amoxicillin, clarithromycin and omeprazole in people with Helicobacter Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450814996,"variant_haplotypes":"rs8050896","gene":null,"drugs":"risperidone","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of T alleles present in a patient was negatively associated with CGI-S score.","sentence":"Allele T is associated with increased response to risperidone in people with Schizophrenia as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3852421","article_title":"Inclusion of CYP3A5 genotyping in a nonparametric population model improves dosing of tacrolimus early after transplantation","article_path":"articles/PMC3852421.md","variant_annotation_id":1184515224,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":24118301,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Patients with the CT genotype had 26% higher clearance (p=0.08) and 37% lower bioavailability (no p-value given) as compared to those with the CC genotype. The primary aim of the present analysis was to develop a nonparametric population pharmacokinetic model for future use for tacrolimus dosing in a clinical prospective setting in renal transplant recipients. Initially, knowledge of each patient's CYP3A5 genotype improves the predictions, but after obtaining three to four Tac trough concentrations, the model does at least as well without the CYP3A5 genotype information.","sentence":"Genotype CT is associated with increased clearance of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5145728","article_title":"GENOME-WIDE AND GENE-BASED META-ANALYSES IDENTIFY NOVEL LOCI INFLUENCING BLOOD PRESSURE RESPONSE TO HYDROCHLOROTHIAZIDE","article_path":"articles/PMC5145728.md","variant_annotation_id":1448423632,"variant_haplotypes":"rs7553527","gene":"HSD3B1","drugs":"hydrochlorothiazide","pmid":27802415,"phenotype_category":"Efficacy","significance":"yes","notes":"Participants were from GENRES study, GERA-1 study, HCTZ-Milan study, NORDIL study, PEAR-1 study, PHSS study.","sentence":"Genotypes CC + CT is associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6518412","article_title":"No Evidence That G6PD Deficiency Affects the Efficacy or Safety of Daunorubicin in Acute Lymphoblastic Leukemia Induction Therapy","article_path":"articles/PMC6518412.md","variant_annotation_id":1450935426,"variant_haplotypes":"G6PD deficiency","gene":"G6PD","drugs":"daunorubicin","pmid":30848065,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between G6PD deficient genotypes and the number of patients who achieve minimal residual disease (MRD) >1% following daunorubicin treatment.","sentence":"G6PD deficiency is not associated with response to daunorubicin in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7235792","article_title":"Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates","article_path":"articles/PMC7235792.md","variant_annotation_id":1451147572,"variant_haplotypes":"rs67666821","gene":"CYP3A4","drugs":"ambrisentan, aripiprazole, atorvastatin, donepezil, olanzapine","pmid":32331352,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant changes in PK parameters in the presence of the T allele. The T allele is also referred to in the paper as the CYP3A4*20 allele.","sentence":"Allele T is not associated with metabolism of ambrisentan, aripiprazole, atorvastatin, donepezil or olanzapine in healthy individuals as compared to allele del.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} +{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":982046650,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Dosage","significance":"yes","notes":"Daily dose of phenprocoumon is significantly associated with rs9923231 genotype in a gene dose effect: GG>AG>AA. Daily dose is also negatively correlated with age. This study published an algorithm for daily dose that includes height, although height was not significant in univariate analysis. This SNP is also significantly associated with phenprocoumon concentration in the same gene-dose effect (GG>AG>AA).","sentence":"Genotype CC is associated with increased dose of phenprocoumon as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC8441053","article_title":"Factors associated with fluoxetine and norfluoxetine plasma concentrations and clinical response in Mexican patients with mental disorders","article_path":"articles/PMC8441053.md","variant_annotation_id":1451503480,"variant_haplotypes":"CYP2D6*1, CYP2D6*4, CYP2D6*10","gene":"CYP2D6","drugs":"fluoxetine","pmid":34523245,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"For CYP2D6 phenotypes were assigned as CYP2D6 extensive (*1/*1, *10/*10, *1/*4, *1/*10), intermediate (*10/*4) and poor; (*4/*4) metabolizers using CYP2D6*4 (rs3892097), and CYP2D6*10 (rs1065852). Also, CYP2D6 extensive metabolizers had almost twice; the value of norfluoxetine/fluoxetine ratios (0.9 (0.7\u20131.7)) than; patients with CYP2D6 intermediate metabolism (0.5 (0.3\u20130.8))","sentence":"CYP2D6 *1/*1 + *10/*10 + *1/*4 + *1/*10 (assigned as normal metabolizer phenotype) is associated with decreased concentrations of fluoxetine in people with Anxiety Disorders, Depression or Depressive Disorder, Major as compared to CYP2D6 *10/*4 (assigned as intermediate metabolizer phenotype) .","alleles":"*1/*1 + *10/*10 + *1/*4 + *1/*10","specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Anxiety Disorders, Other:Depression, Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"*10/*4","comparison_metabolizer_types":"intermediate metabolizer"} +{"pmcid":"PMC3044738","article_title":"Response Prediction in Chronic Hepatitis C by Assessment of IP-10 and IL28B-Related Single Nucleotide Polymorphisms","article_path":"articles/PMC3044738.md","variant_annotation_id":982031621,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":21390311,"phenotype_category":"Efficacy","significance":"no","notes":"Though this SNP is not directly linked to response, it is associated with significantly lower baseline plasma levels of IP-10. Lower levels of IP-10 were found to be statistically significantly associated with better treatment outcome. This SNP was found to be in strong linkage disequilibrium with rs12979860.","sentence":"Genotype TT is not associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC3246196","article_title":"Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition","article_path":"articles/PMC3246196.md","variant_annotation_id":1184747012,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*5, SLCO1B1*37","gene":"SLCO1B1","drugs":"methotrexate","pmid":22147369,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note *1B was mentioned in the article. SLCO1B1*1B was consolidated into SLCO1B1*37 by PharmVar in 2021.","sentence":"SLCO1B1 *5 is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to SLCO1B1 *1 + *37.","alleles":"*5","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *37","comparison_metabolizer_types":null} +{"pmcid":"PMC5469860","article_title":"Association of Polymorphisms in Pharmacogenetic Candidate Genes with Propofol Susceptibility","article_path":"articles/PMC5469860.md","variant_annotation_id":1448639490,"variant_haplotypes":"rs2279020","gene":"GABRA1","drugs":"propofol","pmid":28611364,"phenotype_category":"Other","significance":"yes","notes":"The GG (57.15\u00b113.29) genotype was associated with lower BIS values as compared with the AA and AG genotypes vs. (61.43\u00b110.51) indicating increased susceptibility to propofol in GG genotype. Please note: the authors examined 58 SNPs but did not do multiple testing corrections.; However, the GG genotype was also associated with a smaller decrease in mean arterial pressure (MAP) after propofol as compared to the AG+ AA genotypes (-9.44% vs. -12.16%). Please note: the authors examined 58 SNPs but did not do multiple testing corrections.","sentence":"Genotype GG is associated with increased response to propofol as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC2921956","article_title":"Identification of novel CYP2A6*1B variants; the CYP2A6*1B allele is associated with faster in vivo nicotine metabolism","article_path":"articles/PMC2921956.md","variant_annotation_id":827705098,"variant_haplotypes":"CYP2A6*1, CYP2A6*46","gene":"CYP2A6","drugs":"nicotine","pmid":17522595,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Includes alleles *1B1-*1B15. Please note that the *46 allele is described as the *1B1 allele in the paper and has subsequently been reassigned by PharmVar.","sentence":"CYP2A6 *1/*46 is associated with increased clearance of nicotine as compared to CYP2A6 *1/*1.","alleles":"*1/*46","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC8954661","article_title":"The Association between ABCG2 421C>A (rs2231142) Polymorphism and Rosuvastatin Pharmacokinetics: A Systematic Review and Meta-Analysis","article_path":"articles/PMC8954661.md","variant_annotation_id":1451732760,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"rosuvastatin","pmid":35335877,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented to plus chromosomal strand. Meta-analysis of 8 studies looking at AUC and Cmax of rosuvastatin.","sentence":"Genotypes GT + TT is associated with increased concentrations of rosuvastatin as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC8472669","article_title":"Genetic Polymorphisms of GGH and ABCC2 Are Associated with Methotrexate Intolerance in Patients with Rheumatoid Arthritis","article_path":"articles/PMC8472669.md","variant_annotation_id":1451535103,"variant_haplotypes":"rs11545078","gene":"GGH","drugs":"methotrexate","pmid":34575187,"phenotype_category":"Toxicity","significance":"yes","notes":"Patients receiving MTX and bDMARD treatment (combined treatment) at the time of the study were considered \u201ctolerant\u201d to MTX. Patients receiving bDMARD monotherapy at the study visit were asked about the reason for MTX discontinuation. In cases of discontinuation due to adverse events or toxicity (such as nausea; vomiting; dyspepsia; alopecia; oral ulcers; leukopenia; hepatic alterations, defined as alanine aminotransferase levels greater than 1.5 times the upper normal limit; or pulmonary toxicity), these patients were considered \u201cintolerant\u201d to MTX.","sentence":"Genotypes AA + AG is associated with increased discontinuation of methotrexate in people with Arthritis, Rheumatoid as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Side Effect:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3726442","article_title":"Relationship between Genotypes Sult1a2 and Cyp2d6 and Tamoxifen Metabolism in Breast Cancer Patients","article_path":"articles/PMC3726442.md","variant_annotation_id":1451097180,"variant_haplotypes":"rs1136703","gene":"SULT1A2","drugs":"4-hydroxytamoxifen, endoxifen","pmid":23922954,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as part of haplotype *1*1 vs *1/*2 + *2/*2 (rs1136703A>G and rs1059491T>G). Pre and postmenopausal woman with estrogen receptor-positive breast cancer undergoing tam treatment after surgery and chemotherapy/radiation. Patients were excluded if tamoxifen therapy was started with either chemotherapy or radiation.","sentence":"Genotype AA are associated with decreased concentrations of 4-hydroxytamoxifen or endoxifen in women with Breast Neoplasms as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3249179","article_title":"The relationship between clinical pharmacokinetics of aripiprazole and CYP2D6 genetic polymorphism: effects of CYP enzyme inhibition by coadministration of paroxetine or fluvoxamine","article_path":"articles/PMC3249179.md","variant_annotation_id":1183697499,"variant_haplotypes":"CYP2D6*1, CYP2D6*5, CYP2D6*10, CYP2D6*21","gene":"CYP2D6","drugs":"aripiprazole","pmid":21739267,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"The coadministration of fluvoxamine did not cause a large difference in aripiprazole metabolism in extensive metabolizers as compared to intermediate metabolizers.","sentence":"CYP2D6 *1/*1 + *1/*10 + *1/*21 + *1/*5 (assigned as normal metabolizer phenotype) are not associated with decreased metabolism of aripiprazole in healthy individuals also being given fluvoxamine as compared to CYP2D6 *10/*10 + *5/*10 (assigned as intermediate metabolizer phenotype) .","alleles":"*1/*1 + *1/*10 + *1/*21 + *1/*5","specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":"Other:also being given fluvoxamine","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*10/*10 + *5/*10","comparison_metabolizer_types":"intermediate metabolizer"} +{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874661,"variant_haplotypes":"rs10248420","gene":"ABCB1","drugs":"clozapine","pmid":40048458,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. Table does not state which allele or direction of effect for these SNPs, so assuming minor allele and benefit, PANSS beta is in Table negative. \"four SNPs in two genes were significantly associated with the total PANSS score: rs7787082 and rs10248420 in ABCB1 and rs2133251840 and rs762502 in DRD4 (Table 5). Among these, only one SNP in DRD4 (rs2133251840) resulted in different total PANSS scores at visits 3 and 4 according to its genotype\"","sentence":"Allele G is associated with increased clinical benefit to clozapine in people with Schizophrenia or Psychotic Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6231319","article_title":"ADRB2 Gene Polymorphisms and Salbutamol Responsiveness in Serbian Children with Asthma","article_path":"articles/PMC6231319.md","variant_annotation_id":1451341440,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"salmeterol","pmid":30425908,"phenotype_category":"Efficacy","significance":"yes","notes":"The presence of the G allele in the ADRB2 variant +46A>G correlates with better bronchodilator response to salbutamol.","sentence":"Allele G is associated with increased response to salmeterol in children Asthma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC11605493","article_title":"Genetic polymorphisms to identify patients with an optimal response to tildrakizumab in psoriasis patients from real\u2010life clinical practice","article_path":"articles/PMC11605493.md","variant_annotation_id":1452554380,"variant_haplotypes":"rs610604","gene":"TNFAIP3","drugs":"tildrakizumab","pmid":39081053,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Our data also suggest that patients carrying the genotype GG for rs610604 (TNFAIP3), CTGT/\u2212 for rs72167053 (PDE4D) and CT for rs9373839 (ATG5) had a higher probability to not achieve PASI \u22641 after 12\u2009months of tildrakizumab treatment, while those with CT for rs708567 (IL17RC) have a higher chance to have an optimal response to this treatment.\"","sentence":"Genotype GG is associated with decreased clinical benefit to tildrakizumab in people with Psoriasis as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC11012255","article_title":"Single Nucleotide Polymorphisms of CYP3A4 and CYP3A5 in Romanian Kidney Transplant Recipients: Effect on Tacrolimus Pharmacokinetics in a Single-Center Experience","article_path":"articles/PMC11012255.md","variant_annotation_id":1452443520,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":38610733,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"For the CYP3A4*22 allele, the C0/D ratio did not differ significantly between non-carriers and carriers (p = 0.413).\"","sentence":"CYP3A4 *22 is not associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1/*1.","alleles":"*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5087931","article_title":"Limited Effect of Rebamipide in Addition to Proton Pump Inhibitor (PPI) in the Treatment of Post-Endoscopic Submucosal Dissection Gastric Ulcers: A Randomized Controlled Trial Comparing PPI Plus Rebamipide Combination Therapy with PPI Monotherapy","article_path":"articles/PMC5087931.md","variant_annotation_id":1451343340,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"rabeprazole","pmid":27282261,"phenotype_category":"Efficacy","significance":"no","notes":"In patients with large artificial gastric ulcers after endoscopic submucosal dissection due to gastric adenoma or early gastric cancers. The S stage rates at 4 and 8 weeks were similar in the rabeprazole only or rabeprazole plus rebamipide, even in the subgroups of patients with large amounts of tissue resected and regardless of CYP2C19 genotype.","sentence":"CYP2C19 *2 + *3 are not associated with response to rabeprazole in people with Ulcer as compared to CYP2C19 *1.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Ulcer","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449002981,"variant_haplotypes":"rs3788200","gene":"SLC19A1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3093079","article_title":"Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients","article_path":"articles/PMC3093079.md","variant_annotation_id":1444710781,"variant_haplotypes":"CYP2D6*1, CYP2D6*10","gene":"CYP2D6","drugs":"N-desmethyltamoxifen","pmid":21480951,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The association was not significant but a stepwise decrease in median 4-hydroxytamoxifen concentration was observed when comparing patients with zero, one or two copies of the CYP2D6*10 allele. Patients (pre- (83%) and postmenopausal (17%)) with ER and/or PR positive breast tumors, which received 20 mg tamoxifen daily. Patients taking CYP2D6 inhibitors were excluded. DNA extracted from blood and screened for the following: *2 (2850C>T; rs16947), *2A (\u20131584C>G), *3 (2549delA; rs35742686), *4 (1846G>A; rs3892097), *5 (CYP2D6del), *6 (1707delT; rs5030655), *7 (2935A>C; rs5030867), *8 (1758G>T), *9 (2615-2617delAAG; rs5030656), *10 (100C>T; rs1065852), *12 (124G>A; rs5030862), *14 (1758G>A), *17 (1023C>T; rs28371706), *29 (1659G>A; rs61736512), *41 (2988G>A; rs28371725) and *xN (dup). [pre-menopausal][post-menopausal] [adjuvant] [DNA source: blood]","sentence":"CYP2D6 *10/*10 + *1/*10 is associated with increased concentrations of n-desmethyltamoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*1.","alleles":"*10/*10 + *1/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC7039663","article_title":"Pharmacogenetics predictors of methylphenidate efficacy in childhood ADHD","article_path":"articles/PMC7039663.md","variant_annotation_id":1450180328,"variant_haplotypes":"rs1947274","gene":"ADGRL3","drugs":"methylphenidate","pmid":29230023,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele C.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5192124","article_title":"Population Pharmacokinetics and Pharmacogenetics Analysis of Rilpivirine in HIV-1-Infected Individuals","article_path":"articles/PMC5192124.md","variant_annotation_id":1448423603,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"rilpivirine","pmid":27799217,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of rilpivirine in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3553682","article_title":"Impact of Pharmacogenetic Markers of CYP2B6, Clinical Factors, and Drug-Drug Interaction on Efavirenz Concentrations in HIV/Tuberculosis-Coinfected Patients","article_path":"articles/PMC3553682.md","variant_annotation_id":1183491421,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":23254426,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As shown by increased plasma concentrations (units = mg/L) for those with the GT genotype compared to those with the GG genotype. Fasting plasma efavirenz concentrations were measured 12 hours after the last dose, and after 12 weeks of treatment.","sentence":"Genotype GT is associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2668081","article_title":"Contribution of the activities of CYP3A, CYP2D6, CYP1A2 and other potential covariates to the disposition of methadone in patients undergoing methadone maintenance treatment","article_path":"articles/PMC2668081.md","variant_annotation_id":1451158041,"variant_haplotypes":"low activity","gene":null,"drugs":"methadone","pmid":19133059,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP3A phenotyping carried out using midazolam.","sentence":"CYP3A low activity is associated with increased trough concentration of methadone as compared to CYP3A high activity.","alleles":null,"specialty_population":null,"metabolizer_types":"low activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"high activity"} +{"pmcid":"PMC4115247","article_title":"GENETIC VARIATION IN CYP4A11 AND BLOOD PRESSURE RESPONSE TO MINERALOCORTICOID RECEPTOR ANTAGONISM OR ENAC INHIBITION: AN EXPLORATORY PILOT STUDY IN AFRICAN AMERICANS","article_path":"articles/PMC4115247.md","variant_annotation_id":1450821104,"variant_haplotypes":"rs3890011","gene":"CYP4A11","drugs":"spironolactone","pmid":25064769,"phenotype_category":"Efficacy","significance":"yes","notes":"This variant was in complete disequilibrium with rs1126742. Alleles are reported as described in the paper however, because this is a G/C SNP, users should be aware that there is ambiguity as to whether the alleles are reported as on the positive strand. Patients with the CC genotype and receiving spironolactone monotherapy did not have a reduction in systolic or diastolic blood pressure while those with the CG or GG genotypes did.","sentence":"Genotype CC is associated with decreased response to spironolactone in people with Hypertension as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5508045","article_title":"The impact of non-genetic and genetic factors on a stable warfarin dose in Thai patients","article_path":"articles/PMC5508045.md","variant_annotation_id":1448624157,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":28550460,"phenotype_category":"Dosage","significance":"yes","notes":"Please note: alleles have been complemented to the + strand.","sentence":"Genotypes CT + TT are associated with decreased dose of warfarin in people with Atrial Fibrillation, heart valve replacement, Hypertension, Pulmonary, Pulmonary Embolism or Venous Thrombosis as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation, Disease:Heart valve replacement, Disease:Pulmonary Hypertension, Disease:Pulmonary Embolism, Disease:Venous Thrombosis","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":655388216,"variant_haplotypes":"rs12418","gene":"CHST3","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with dbSNP, actual base not listed in paper)","sentence":"Allele A is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC8767566","article_title":"Effect of HIV, antiretrovirals, and genetics on methadone pharmacokinetics: Results from the methadone antiretroviral pharmacokinetics study","article_path":"articles/PMC8767566.md","variant_annotation_id":1451516600,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"(S)-methadone","pmid":34482033,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"The CYP 2B6*4 variant decreased S-methadone CL/F by 18%. \"","sentence":"Allele G is associated with decreased clearance of (S)-methadone in people with HIV Infections as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5519037","article_title":"Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer","article_path":"articles/PMC5519037.md","variant_annotation_id":1448636647,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"everolimus","pmid":28727815,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The AG allele was associated with 2.7-fold higher everolimus concentrations compared to the GG genotype. There were no individuals with the AA genotype. Please note: alleles have been complemented to the positive chromosomal strand.","sentence":"Genotype AG is associated with increased concentrations of everolimus in women with Breast Neoplasms as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934374,"variant_haplotypes":"rs104894828","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the T allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Arg301Gln in the paper.","sentence":"Allele T is associated with increased response to migalastat in people with Fabry Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11638344","article_title":"Effect of SLC22A1 polymorphism on the pharmacokinetics of proguanil in Korean: A semi\u2010physiologic population pharmacokinetic approach","article_path":"articles/PMC11638344.md","variant_annotation_id":1452786480,"variant_haplotypes":"rs2282143","gene":"SLC22A1","drugs":"proguanil","pmid":39668580,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"The CT genotype showed a 1.2\u2010fold higher systemic exposure of proguanil and a 0.6\u2010fold lower exposure of cycloguanil compared to those in subjects with the CC genotype, resulting in a 0.5 to 0.6\u2010fold lower metabolic ratio. \"","sentence":"Genotype CT is associated with increased exposure to proguanil in healthy individuals as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6328871","article_title":"Effects of OPRM1 and ABCB1 gene polymorphisms on the analgesic effect and dose of sufentanil after thoracoscopic-assisted radical resection of lung cancer","article_path":"articles/PMC6328871.md","variant_annotation_id":1450932019,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"sufentanil","pmid":30455395,"phenotype_category":"Dosage","significance":"no","notes":"No significant association between this variant and consumption of sufentanil. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with dose of sufentanil in people with Lung Neoplasms and Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"\"Other:Lung Neoplasms\", \"Other:Pain, Postoperative\"","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6142943","article_title":"Association of Genetic Variants With Response to Anti\u2013Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration","article_path":"articles/PMC6142943.md","variant_annotation_id":1449566972,"variant_haplotypes":"rs13002976","gene":null,"drugs":"bevacizumab, ranibizumab","pmid":29852030,"phenotype_category":"Efficacy","significance":"no","notes":"The authors performed GWAS in a discovery cohort, and did a replication analysis.","sentence":"Allele G is not associated with response to bevacizumab and ranibizumab in people with as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2599947","article_title":"ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence","article_path":"articles/PMC2599947.md","variant_annotation_id":1450811601,"variant_haplotypes":"rs2235067","gene":"ABCB1","drugs":"methadone","pmid":18424454,"phenotype_category":"Dosage","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. Alleles were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone.","sentence":"Allele C is not associated with dose of methadone in people with Heroin Dependence as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5249113","article_title":"Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis","article_path":"articles/PMC5249113.md","variant_annotation_id":1448995927,"variant_haplotypes":"rs33980500","gene":"TRAF3IP2","drugs":"adalimumab","pmid":28107378,"phenotype_category":"Efficacy","significance":"no","notes":"At six months after beginning treatment, a significant association between rs33980500 and decreased response to TNF inhibitors (i.e. etanercapt and adalimumab) in terms of the number of patients in remission (p=0.02, OR=0.09, C.I.=0.01-0.70) or with low disease activity (p=0.013, OR=0.1, C.I.=0.02-0.87) was seen across the whole cohort, but was not seen at two years after beginning treatment and could not be replicated in the subgroups for each individual drug.","sentence":"Allele T is not associated with response to adalimumab in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981794208,"variant_haplotypes":"rs760370","gene":"SLC29A1","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Patients with the GG genotype has worse tumor response to treatment with gemcitabine than patients with the AG or AA genotypes. However, progression free survival and risk of neutropenia development did not significantly differ between genotype groups. There were four SNPs in this study that, when taken together, affected progression free survival: rs183484, rs2072671, rs760370, and rs9937. Using patients with 0 or 1 variant as reference, patients with 2 variants had an increased HR of 1.79 (P = 0.004) and patients with 3-4 variants has an increased HR of 3.25 (P < 0.001). There were also two SNPs in this study that, when taken together, affected tumor response to therapy: rs2072671 and rs760370. Using patients with 0 variants as reference, patients with 1-2 variants had an increased OR of 3.40 (P = 0.004).","sentence":"Genotype GG is associated with decreased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4278770","article_title":"Oxidative Stress-Related Genetic Polymorphisms Are Associated with the Prognosis of Metastatic Gastric Cancer Patients Treated with Epirubicin, Oxaliplatin and 5-Fluorouracil Combination Chemotherapy","article_path":"articles/PMC4278770.md","variant_annotation_id":1444694858,"variant_haplotypes":"rs4880","gene":"SOD2","drugs":"epirubicin, fluorouracil, oxaliplatin","pmid":25545243,"phenotype_category":"Efficacy","significance":"not stated","notes":"Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele G is not associated with response to epirubicin, fluorouracil and oxaliplatin in people with Neoplasm Metastasis and Stomach Neoplasms.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4169411","article_title":"Thymidylate Synthase Genotype-Directed Chemotherapy for Patients with Gastric and Gastroesophageal Junction Cancers","article_path":"articles/PMC4169411.md","variant_annotation_id":1184886901,"variant_haplotypes":"rs1695","gene":"GSTP1","drugs":"fluorouracil, leucovorin, oxaliplatin","pmid":25232828,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to fluorouracil, leucovorin and oxaliplatin in people with Esophageal Neoplasms and Stomach Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasm of esophagus, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5483245","article_title":"Independent and interactive effects of OPRM1 and DAT1 polymorphisms on alcohol consumption and subjective responses in social drinkers","article_path":"articles/PMC5483245.md","variant_annotation_id":1450826531,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":28376280,"phenotype_category":"Other","significance":"no","notes":"No significant independent effects of OPRM1 genotype on subjective measures of alcohol response (SHAS, DEQ VAS, BAES or POMS).","sentence":"Allele G is not associated with response to ethanol in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811713,"variant_haplotypes":"rs3778148","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"yes","notes":"The T allele was associated with increased scores in the dizzy, drunk, high, nausea, talkative and uncomfortable traits as well as increased total score on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele T is associated with increased response to ethanol as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4034115","article_title":"Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders","article_path":"articles/PMC4034115.md","variant_annotation_id":1184510520,"variant_haplotypes":"rs6280","gene":"DRD3","drugs":"methylphenidate","pmid":23856854,"phenotype_category":"Efficacy","significance":"yes","notes":"Positive response defined as Clinical Global Impression-Improvement (CGI-I) rating of 'much improved' or 'very much improved', and decrease in Aberrant Behavior Checklist-Hyperactivity subscale of >25% from baseline. This result was not significant when considering correction for multiple testing (p<0.002).","sentence":"Genotype TT is associated with increased response to methylphenidate in children with Autism Spectrum Disorder as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Autism Spectrum Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5908896","article_title":"Association of STAT-3 rs1053004 and VDR rs11574077 With FOLFIRI-Related Gastrointestinal Toxicity in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC5908896.md","variant_annotation_id":1449557376,"variant_haplotypes":"rs12717991","gene":"VDR","drugs":"irinotecan","pmid":29706892,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with metabolism of irinotecan in people with Colorectal Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6462825","article_title":"Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort","article_path":"articles/PMC6462825.md","variant_annotation_id":1449164097,"variant_haplotypes":"rs4841588","gene":"GATA4","drugs":"warfarin","pmid":29298995,"phenotype_category":"Dosage","significance":"no","notes":"Warfarin dose requirement was defined as the reported daily dose at 3 months following treatment initiation.","sentence":"Allele G is not associated with dose of warfarin as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479892,"variant_haplotypes":"rs2527927","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC1885108","article_title":"Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes","article_path":"articles/PMC1885108.md","variant_annotation_id":982043158,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"pravastatin","pmid":16722833,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the CT genotype had significantly lower plasma Cmax, AUC and drug half-life. This variant was described as 521T>C.","sentence":"Genotype CT is associated with increased metabolism of pravastatin in children with Transplantation as compared to genotype TT.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5346875","article_title":"Theory\u2010based pharmacokinetics and pharmacodynamics of S\u2010 and R\u2010warfarin and effects on international normalized ratio: influence of body size, composition and genotype in cardiac surgery patients","article_path":"articles/PMC5346875.md","variant_annotation_id":1448276214,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":27763679,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The *1/*3 diplotype was associated with increased clearance of R-warfarin but decreased clearance of S-warfarin.","sentence":"CYP2C9 *1/*3 is associated with clearance of warfarin in people with Heart Diseases as compared to CYP2C9 *1/*1.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6038204","article_title":"Genotype-guided versus traditional clinical dosing of warfarin in patients of Asian ancestry: a randomized controlled trial","article_path":"articles/PMC6038204.md","variant_annotation_id":1449577166,"variant_haplotypes":"CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":29986700,"phenotype_category":"Dosage","significance":"not stated","notes":"used in a study comparing genotype-guided dosing vs conventional for warfarin initiation.","sentence":"CYP2C9 *3 is associated with dose of warfarin in people with Atrial Fibrillation, Pulmonary Embolism, Stroke and Venous Thrombosis.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation, Disease:Pulmonary Embolism, Disease:Stroke, Disease:Venous Thrombosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407860,"variant_haplotypes":"rs4633","gene":"COMT","drugs":"butorphanol","pmid":31806881,"phenotype_category":"Efficacy","significance":"yes","notes":"Significant difference in pressure pain at the ulna between genotype groups, but this association was not seen in other pain modalities. Study-wide significance was set to p<0.017.","sentence":"Genotype CC is associated with decreased response to butorphanol in healthy individuals as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC8673616","article_title":"Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences","article_path":"articles/PMC8673616.md","variant_annotation_id":1451679200,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"methadone","pmid":34910759,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC9701885","article_title":"Association between rs1799971 in the mu opioid receptor gene and methadone maintenance treatment response","article_path":"articles/PMC9701885.md","variant_annotation_id":1451927202,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"methadone","pmid":36305091,"phenotype_category":"Dosage","significance":"no","notes":"not significant in any model (recessive/dominant/additive/allelic) in primary study nor in meta-analysis.","sentence":"Allele A is not associated with increased dose of methadone in people with Heroin Dependence as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678461,"variant_haplotypes":"rs2298771","gene":"SCN1A","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The authors evaluated the distribution of genotypes between individuals who developed resistance to carbamazepine (CBZ) and those who did not. There were no significant differences in genotype distributions between the two groups. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype TT is not associated with resistance to carbamazepine in people with Epilepsy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC7351433","article_title":"Polymorphisms within methotrexate pathway genes: Relationship between plasma methotrexate levels, toxicity experienced and outcome in pediatric acute lymphoblastic leukemia","article_path":"articles/PMC7351433.md","variant_annotation_id":1451553460,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"methotrexate","pmid":32695297,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. Patients with the TT genotype did not have significantly different methotrexate plasma levels compared to those with the GG genotype.","sentence":"Genotype GT is associated with increased concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.","alleles":"GT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10159199","article_title":"Effect of ERCC1 polymorphisms on the response to platinum-based chemotherapy: A systematic review and meta-analysis based on Asian population","article_path":"articles/PMC10159199.md","variant_annotation_id":1452094780,"variant_haplotypes":"rs11615","gene":"ERCC1","drugs":"Platinum compounds","pmid":37141338,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. Authors perform meta-analysis using several models looking at response and OS and subgroup analysis by cancer type.","sentence":"Genotypes AG + GG is associated with increased clinical benefit to Platinum compounds in people with Ovarian Neoplasms, Esophageal Neoplasms or Neoplasms as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Ovarian Neoplasms, Other:Neoplasm of esophagus, Other:Neoplasms","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6760244","article_title":"NEUROIMAGING FINDINGS FROM AN EXPERIMENTAL PHARMACOLOGY TRIAL OF NALTREXONE IN HEAVY DRINKERS OF EAST ASIAN DESCENT","article_path":"articles/PMC6760244.md","variant_annotation_id":1451351843,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"naltrexone","pmid":31160146,"phenotype_category":"Efficacy","significance":"no","notes":"No significant genotype x medication interaction on alcohol taste cues.","sentence":"Allele G is not associated with response to naltrexone in people with Alcoholism as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC1237155","article_title":"A Prospective, Randomized Pilot Trial of Model-Based Warfarin Dose Initiation using CYP2C9 Genotype and Clinical Data","article_path":"articles/PMC1237155.md","variant_annotation_id":1183701565,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":16160068,"phenotype_category":"Dosage","significance":"no","notes":"This was a pilot study to compare traditional and PGx-guided dosing.","sentence":"CYP2C9 *3 is associated with decreased dose of warfarin as compared to CYP2C9 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4157963","article_title":"TAOK3, a novel genome-wide association study locus associated with morphine requirement and postoperative pain in a retrospective pediatric day surgery population","article_path":"articles/PMC4157963.md","variant_annotation_id":1450376100,"variant_haplotypes":"rs795484","gene":"TAOK3","drugs":"morphine","pmid":24909733,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"Association described as 'nominally significant' in the paper and was only seen in European Caucasian patients. Please note that alleles have been complemented to the positive strand.","sentence":"Genotype TT is associated with increased dose of morphine in children with Pain, Postoperative as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4931969","article_title":"Childhood asthma exacerbations and the Arg-16 beta2 receptor polymorphism: a meta-analysis stratified by treatment","article_path":"articles/PMC4931969.md","variant_annotation_id":1447680625,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"selective beta-2-adrenoreceptor agonists","pmid":26774659,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to selective beta-2-adrenoreceptor agonists in children with Asthma as compared to genotype GG.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4943245","article_title":"Individualized Angiotensin\u2010Converting Enzyme (ACE)\u2010Inhibitor Therapy in Stable Coronary Artery Disease Based on Clinical and Pharmacogenetic Determinants: The PERindopril GENEtic (PERGENE) Risk Model","article_path":"articles/PMC4943245.md","variant_annotation_id":1447964381,"variant_haplotypes":"rs275651","gene":"AGTR1","drugs":"perindopril","pmid":27021566,"phenotype_category":"Efficacy","significance":"yes","notes":"Three SNPS are combined for a risk score ranging between 0 and 6: rs275651, rs5182, and rs12050217. Patients with risk scores of 0 and 1 and treated with perindopril had absolute risk reductions of 7.50% (95% CI: 3.69-11.73) and 4.30% (95% CI: 2.00-6.53), respectively. Nonsignificant estimated absolute risk increase of 1.32% was observed in patients with a PGXscore >=3. Lower risk score had better response to treatment by primary endpoint of cardiovascular mortality, nonfatal MI, and resuscitated cardiac arrest. Part of PERGENE trial for cardiovascular outcomes.","sentence":"Genotypes AA + AT is associated with decreased response to perindopril in people with Coronary Artery Disease as compared to genotype TT.","alleles":"AA + AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3016221","article_title":"Genetic variants in the KIF6 region and coronary event reduction from statin therapy","article_path":"articles/PMC3016221.md","variant_annotation_id":981482129,"variant_haplotypes":"rs20455","gene":"KIF6","drugs":"atorvastatin, pravastatin","pmid":20886236,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AG + GG are associated with increased response to atorvastatin or pravastatin as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC7039325","article_title":"A functional polymorphism in the ABCB1 transporter predicts pharmacologic response to combination of nortriptyline and morphine in neuropathic pain patients","article_path":"articles/PMC7039325.md","variant_annotation_id":1451133680,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"morphine, nortriptyline","pmid":31738228,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in improvement in pain scores between genotype groups.","sentence":"Allele G is not associated with response to morphine and nortriptyline in people with Pain as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3330749","article_title":"Genetic and environmental factors determining clinical outcomes and cost of warfarin therapy: a prospective study","article_path":"articles/PMC3330749.md","variant_annotation_id":1447519932,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":19752777,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele C is associated with decreased dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC7351433","article_title":"Polymorphisms within methotrexate pathway genes: Relationship between plasma methotrexate levels, toxicity experienced and outcome in pediatric acute lymphoblastic leukemia","article_path":"articles/PMC7351433.md","variant_annotation_id":1451553466,"variant_haplotypes":"rs1801131","gene":"MTHFR","drugs":"methotrexate","pmid":32695297,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501889,"variant_haplotypes":"rs28365063","gene":"UGT2B7","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was only significant in the African American patients and not in Caucasian patients.","sentence":"Genotype AA is associated with decreased clearance of carbamazepine in people with Epilepsy as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5903228","article_title":"The impact of diuretic use and ABCG2 genotype on the predictive performance of a published allopurinol dosing tool","article_path":"articles/PMC5903228.md","variant_annotation_id":1449166202,"variant_haplotypes":"rs3825018","gene":"SLC22A12","drugs":"allopurinol","pmid":29341237,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of allopurinol in people with Gout as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Gout","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4730664","article_title":"The role of CYP3A5 polymorphism and dose adjustments following conversion of twice-daily to once-daily tacrolimus in renal transplant recipients","article_path":"articles/PMC4730664.md","variant_annotation_id":1447946767,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":26823971,"phenotype_category":"Dosage","significance":"yes","notes":"Patients converting from tacrolimus 2X daily (BID) to tacrolimus 1X daily (OD). Pre- and post-conversion, those with the *1/*3 genotype had significantly higher dose requirements as compared to those with the *3/*3 genotype.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC5604555","article_title":"Variability of the drug response to nonsteroidal anti-inflammatory drugs according to cyclooxygenase-2 genetic polymorphism","article_path":"articles/PMC5604555.md","variant_annotation_id":1450373027,"variant_haplotypes":"rs689466","gene":"PTGS2","drugs":"celecoxib","pmid":29066864,"phenotype_category":"Efficacy","significance":"yes","notes":"in terms of COX-2 inhibition. COX-2 activity was estimated by measuring the blood PGE2 level. The area under the effect curve (AUEC) of the rs689466 GG genotype was significantly lower than that for the AA or AG genotype.","sentence":"Genotype CC is associated with increased response to celecoxib in healthy individuals as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3579261","article_title":"Population pharmacokinetics of unbound mycophenolic acid in adult allogeneic haematopoietic cell transplantation: effect of pharmacogenetic factors","article_path":"articles/PMC3579261.md","variant_annotation_id":1448107192,"variant_haplotypes":"rs10187694","gene":"UGT1A10","drugs":"mycophenolic acid","pmid":22765258,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotype GG is not associated with any pharmacokinetic parameters measured in the study when exposed to mycophenolic acid as compared to genotype AA.","sentence":"Genotype GG is not associated with metabolism of mycophenolic acid as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5883590","article_title":"Effect of CYP3 A4, CYP3 A5 and ABCB1 gene polymorphisms on the clinical efficacy of tacrolimus in the treatment of nephrotic syndrome","article_path":"articles/PMC5883590.md","variant_annotation_id":1449748471,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":29615122,"phenotype_category":"Efficacy","significance":"no","notes":"This variant did not affect the clinical efficacy of tacrolimus. Effective response included patients with complete or partial remission, and ineffective response included patients with no remission or recurrence.","sentence":"CYP3A5 *3 is not associated with response to tacrolimus in people with Nephrotic Syndrome as compared to CYP3A5 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Nephrotic Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479812,"variant_haplotypes":"rs6960542","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6773496","article_title":"\u03b22-Adrenergic Receptor Gene Affects the Heart Rate Response of \u03b2-Blockers: Evidence From 3 Clinical Studies","article_path":"articles/PMC6773496.md","variant_annotation_id":1451107275,"variant_haplotypes":"rs5443","gene":"GNB3","drugs":"atenolol, metoprolol","pmid":31090079,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and response to atenolol or metoprolol, as measured by changes in heart rate, in black or white patients.","sentence":"Allele T is not associated with response to atenolol or metoprolol in people with Tachycardia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tachycardia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3894627","article_title":"Genetic Determinants of Response to Warfarin during Initial Anticoagulation","article_path":"articles/PMC3894627.md","variant_annotation_id":1450980620,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":18322281,"phenotype_category":"Dosage","significance":"yes","notes":"With *1/*2 (AG) requiring intermediate dose. This was most marked at day 28 to end of follow-up with average doses of 3.66mg/day for *2*2 (HaplotypeA/HaplotypeA\"), 4.45mg/day for HaplotypeA/nonA and 5.68mg/day for nonA/nonA. Authors also used rs9923231, rs2884737, rs8050894, and rs2359612 to define HaplotypeA.","sentence":"Genotype AA is associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3505921","article_title":"Influence of Methylenetetrahydrofolate Reductase C677T, A1298C, and G80A Polymorphisms on the Survival of Pediatric Patients with Acute Lymphoblastic Leukemia","article_path":"articles/PMC3505921.md","variant_annotation_id":1451506360,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"methotrexate","pmid":23198157,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Association only seen at the 24 hour timepoint and not at 48 hours. Variant referred to in the paper as G80A. Please note that alleles have been complemented to the positive strand.","sentence":"Genotype TT is associated with decreased concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC1885108","article_title":"Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes","article_path":"articles/PMC1885108.md","variant_annotation_id":982043181,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"pravastatin","pmid":16722833,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CT genotype had greater increases in HDL cholesterol but smaller decreases in total cholesterol and LDL cholesterol. This variant was described as 521T>C.","sentence":"Genotype CT is associated with increased response to pravastatin in children with Transplantation as compared to genotype TT.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4513254","article_title":"Race influences warfarin dose changes associated with genetic factors","article_path":"articles/PMC4513254.md","variant_annotation_id":1445296694,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":26024874,"phenotype_category":"Dosage","significance":"yes","notes":"only in European Americans, but not African Americans. The dose increase per variant allele was higher among European Americans (5.89% vs 1.23%) compared with African Americans.","sentence":"Genotypes CT + TT are associated with increased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6855320","article_title":"CYP2C19 and STAT6 Variants Influence the Outcome of Proton Pump Inhibitor Therapy in Pediatric Eosinophilic Esophagitis","article_path":"articles/PMC6855320.md","variant_annotation_id":1451273890,"variant_haplotypes":"rs1059513","gene":"STAT6","drugs":"esomeprazole","pmid":31490856,"phenotype_category":"Efficacy","significance":"yes","notes":"NOTE: Alleles are not provided in article. For PPI-REE outcome (dominant genetic model, covariates as above), individuals who carried 1 or 2 copies of rs1059513 had 6.2-fold better odds of achieving a PPI responsive esophageal eosinophilia (PPI-REE) outcome after PPI therapy than individuals who did not carry rs1059513 (PPI-REE OR [95% CI] = 6.16 [1.44, 26.35], P = 0.028)","sentence":"Genotypes CC + CT are associated with increased response to esomeprazole in children with eosinophilic esophagitis as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:eosinophilic esophagitis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451114066,"variant_haplotypes":"rs997917","gene":"OPRK1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy. Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2432487","article_title":"Effect of CYP2C19*2 and *17 mutations on pharmacodynamics and kinetics of proton pump inhibitors in Caucasians","article_path":"articles/PMC2432487.md","variant_annotation_id":1183623444,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"lansoprazole, omeprazole","pmid":18241283,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the mean percentage of time with intragastric pH greater than 4.0 was seen between the genotypes in subjects taking omeprazole (10 mg/day) or lansoprazole (15 mg/day). Subjects were treated with either drug for 6 days, in a crossover fashion; mean percentage of time with intragastric pH greater than 4.0 was measured on day 1 and day 6 after initiation of treatment.","sentence":"CYP2C19 *1/*1 is not associated with response to lansoprazole or omeprazole in healthy individuals as compared to CYP2C19 *1/*2.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557987,"variant_haplotypes":"rs2650972","gene":null,"drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4296935","article_title":"Warfarin Dosage Response Related Pharmacogenetics in Chinese Population","article_path":"articles/PMC4296935.md","variant_annotation_id":1444694656,"variant_haplotypes":"rs699664","gene":"GGCX","drugs":"warfarin","pmid":25594941,"phenotype_category":"Dosage","significance":"no","notes":"130 plasma samples were obtained 12 hours after the last dose of warfarin. The plasma warfarin concentrations of these samples were comparing plasma concentration within the group of patients with INR between 1.5\u20132.5 (n = 92) between genotype groups.","sentence":"Genotypes CT + TT are not associated with concentrations of warfarin in people with heart valve replacement as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC11310823","article_title":"Pharmacogenetic Variants and Plasma Concentrations of Antiseizure Drugs: A Systematic Review and Meta-Analysis","article_path":"articles/PMC11310823.md","variant_annotation_id":1452563840,"variant_haplotypes":"CYP2C9 intermediate metabolizer","gene":"CYP2C9","drugs":"phenytoin","pmid":39115847,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Sufficient data were available to meaningfully quantify the difference in phenytoin plasma concentrations between the different CYP2C9 and CYP2C19 metabolizer phenotypes. The CYP2C9 intermediate metabolizers had 46% (95% CI, 33%-61%) higher phenytoin plasma concentrations compared with the CYP2C9 normal metabolizers (Figure 2 and Table 3). Insufficient data were available for a meaningful analysis of the association between the very rare CYP2C9 poor metabolizers phenotype and differences in phenytoin plasma concentrations. However, the only study suitable for inclusion, which included 5 CYP2C9 poor metabolizers and 41 CYP2C9 normal metabolizers, showed a very profound increase in phenytoin plasma concentration of 134% in poor metabolizers compared with normal metabolizers.\" \"Decreased activity: CYP2C9*2: rs1799853; Abolished activity: CYP2C9*3: rs1057910\"","sentence":"CYP2C9 intermediate metabolizer is associated with increased concentrations of phenytoin as compared to CYP2C9 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3992925","article_title":"IL-4 receptor polymorphisms predict reduction in asthma exacerbations during response to an anti\u2013IL-4 receptor \u03b1 antagonist","article_path":"articles/PMC3992925.md","variant_annotation_id":981477278,"variant_haplotypes":"rs3024530","gene":"IL4R","drugs":"pitrakinra","pmid":22541248,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the AA genotype have a reduced frequency of asthma exacerbations compared to those with the AG + GG genotypes.","sentence":"Genotype AA is associated with increased response to pitrakinra in people with Asthma as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5749368","article_title":"Genetics and clinical response to warfarin and edoxaban in patients with venous thromboembolism","article_path":"articles/PMC5749368.md","variant_annotation_id":1449005291,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":28689179,"phenotype_category":"Dosage","significance":"yes","notes":"CYP2C9 and VKORC1 variants are analyzed together to divide patients into three warfarin sensitivity types (normal, sensitive and highly sensitive). \"Warfarin sensitive and highly sensitive responders had heparin therapy discontinued earlier (p<0.001), had a decreased final weekly warfarin dose (p<0.001), spent more time over-anticoagulated (p<0.001) and had an increased bleeding risk with warfarin (sensitive responders HR 1.38 [95% CI 1.11 to 1.71], p=0.0035; highly sensitive responders 1.79 [1.09 to 2.99]; p=0.0252).\"","sentence":"CYP2C9 *2 + *3 are associated with decreased dose of warfarin in people with venous thromboembolism as compared to CYP2C9 *1/*1.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Venous thromboembolism","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3985268","article_title":"Variation in P450 oxidoreductase (POR) A503V and flavin containing monooxygenase (FMO)-3 E158K is associated with minor alterations in nicotine metabolism but does not alter cigarette consumption","article_path":"articles/PMC3985268.md","variant_annotation_id":1452645003,"variant_haplotypes":"CYP2A6*1, CYP2A6*2, CYP2A6*4, CYP2A6*9, CYP2A6*12, CYP2A6*17, CYP2A6*20, CYP2A6*23, CYP2A6*24, CYP2A6*25, CYP2A6*26, CYP2A6*27, CYP2A6*28, CYP2A6*35","gene":"CYP2A6","drugs":"nicotine","pmid":24448396,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP2A6 reduced metabolizers(participants with 1 or more of the alleles: *2,*4,*9,*17,*20,*23,*25-*28,*35,*12,*24) showed 50% higher nicotine AUC and 40% lower 3HC/COT in non-smokers.","sentence":"CYP2A6 *2 + *4 + *9 + *17 + *20 + *23 + *25 + *26 + *27 + *28 + *35 + *12 + *24 (assigned as low activity phenotype) is associated with decreased metabolism of nicotine as compared to CYP2A6 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*2 + *4 + *9 + *17 + *20 + *23 + *25 + *26 + *27 + *28 + *35 + *12 + *24","specialty_population":null,"metabolizer_types":"low activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032460,"variant_haplotypes":"rs1948308","gene":"NTRK2","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was statistically significant after permutation analysis based on 40,000 replicates, but not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction). Note; this SNP was in LD with rs4358872, rs2378676, and rs4877900 (r^2>0.7).","sentence":"Genotype GG is associated with decreased dose of methadone in people with Heroin Dependence as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC2168111","article_title":"Toll-Like Receptor 4 Polymorphism Associated with the Response to Whole-Cell Pertussis Vaccination in Children from the KOALA Study","article_path":"articles/PMC2168111.md","variant_annotation_id":1444702155,"variant_haplotypes":"rs2770150","gene":"TLR4","drugs":"Pertussis vaccines","pmid":17699831,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the GG genotype had a lower pertussis toxin-specific immunoglobulin G (PT-IgG) titer following whole-cell pertussis vaccination as compared to those with the AG genotype. The IgG antibody titer against PT correlates with protection against disease. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is associated with decreased response to Pertussis vaccines in children as compared to genotype AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896233,"variant_haplotypes":"rs2043144","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele C is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC1773505","article_title":"Safe treatment of thiopurine S-methyltransferase deficient Crohn\u2019s disease patients with azathioprine","article_path":"articles/PMC1773505.md","variant_annotation_id":1184174034,"variant_haplotypes":"TPMT*1, TPMT*3A, TPMT*3C","gene":"TPMT","drugs":"azathioprine","pmid":12477776,"phenotype_category":"Dosage, Efficacy, Toxicity","significance":"not stated","notes":"Toxicity could be avoided and treatment was still effective if the azathioprine dose was dramatically lowered.","sentence":"TPMT *3A/*3C is associated with decreased dose of azathioprine in people with Crohn Disease as compared to TPMT *1/*1.","alleles":"*3A/*3C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Crohn Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4612590","article_title":"Pharmacogenetic Pathway Analysis of Docetaxel Elimination","article_path":"articles/PMC4612590.md","variant_annotation_id":1448107856,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"docetaxel","pmid":18509327,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The C allele corresponds with CYP3A*1B. The presence of the CYP3A4*1B and was associated with a 62% (P=0.055) increase in docetaxel clearance.","sentence":"Allele C is associated with increased clearance of docetaxel in people with Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359587,"variant_haplotypes":"rs11575553","gene":"DDC","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of methadone in people with Heroin Dependence as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161780,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methadone","pmid":21589866,"phenotype_category":"Dosage","significance":"no","notes":"No significant difference in methadone dose between genotypes. No details about which specific variants/alleles were tested for. Variant referred to as C3435T. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC9585281","article_title":"Association of ABCC2 polymorphism with clopidogrel response in Chinese patients undergoing percutaneous coronary intervention","article_path":"articles/PMC9585281.md","variant_annotation_id":1451930261,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"clopidogrel","pmid":36278153,"phenotype_category":"Efficacy","significance":"no","notes":"\"neither ABCC2 rs2273697 nor ABCC2 rs3740066 polymorphisms affected PAIR% values \"","sentence":"Genotype AA is not associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4682920","article_title":"Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study","article_path":"articles/PMC4682920.md","variant_annotation_id":1447682504,"variant_haplotypes":"rs10048158","gene":null,"drugs":"boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":26670100,"phenotype_category":"Efficacy","significance":"no","notes":"This variant was not significantly associated with SVR to triple therapy including telaprevir or boceprevir in patients with compensated cirrhosis chronically infected with HCV-1.","sentence":"Allele C is not associated with increased response to boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4280295","article_title":"Poor Warfarin Dose Prediction with Pharmacogenetic Algorithms that Exclude Genotypes Important for African Americans","article_path":"articles/PMC4280295.md","variant_annotation_id":1185235783,"variant_haplotypes":"rs12777823","gene":null,"drugs":"warfarin","pmid":25461246,"phenotype_category":"Dosage","significance":"yes","notes":"Observed dose (mg/kg): GG (n=157) 8 (5.0\u20138.6), GA (n=97) 5.7 (4.3\u20137.5), AA (n=20) 5.2 (4.3\u20137.3) p=0.0047","sentence":"Genotypes AA + AG is associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4669157","article_title":"HLA-G 3\u2019UTR Polymorphisms Impact the Prognosis of Stage II-III CRC Patients in Fluoropyrimidine-Based Treatment","article_path":"articles/PMC4669157.md","variant_annotation_id":1447678621,"variant_haplotypes":"rs1707","gene":"HLA-G","drugs":"capecitabine, fluorouracil","pmid":26633805,"phenotype_category":"Efficacy","significance":"no","notes":"The authors examined disease free survival (DFS) as well as overall survival (OS). Neither were significantly associated with any genotype.","sentence":"Genotype CC is not associated with response to capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3016221","article_title":"Genetic variants in the KIF6 region and coronary event reduction from statin therapy","article_path":"articles/PMC3016221.md","variant_annotation_id":981482176,"variant_haplotypes":"rs9462535","gene":"KIF6","drugs":"atorvastatin, pravastatin","pmid":20886236,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AA + AC are associated with increased response to atorvastatin or pravastatin.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4365300","article_title":"TRAF1/C5 but Not PTPRC Variants Are Potential Predictors of Rheumatoid Arthritis Response to Anti-Tumor Necrosis Factor Therapy","article_path":"articles/PMC4365300.md","variant_annotation_id":1444702693,"variant_haplotypes":"rs10499194","gene":null,"drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":25834819,"phenotype_category":"Efficacy","significance":"no","notes":"using either the absolute change in DAS28 or the proportion of good responders and non-responders as outcomes.","sentence":"Allele T is not associated with decreased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5438821","article_title":"Sex Differences in the Blood Concentration of Tacrolimus in Systemic Lupus Erythematosus and Rheumatoid Arthritis Patients with CYP3A5*3/*3","article_path":"articles/PMC5438821.md","variant_annotation_id":1448612336,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"tacrolimus","pmid":28324194,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in the dose-adjusted concentration of tacrolimus was seen between the genotypes. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with dose-adjusted trough concentrations of tacrolimus in people with Arthritis, Rheumatoid or Lupus Erythematosus, Systemic as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis, Disease:Systemic lupus erythematosus","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171064,"variant_haplotypes":"rs2279344","gene":"CYP2B6","drugs":"methadone","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with concentrations of methadone as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161460,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"methadone","pmid":21589866,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in genotype or phenotype frequencies between responders and non-responders, as defined by drug misuse during methadone maintenance therapy. No details about which specific variants/alleles were tested for.","sentence":"CYP2C9 *1/*3 + *2/*2 + *2/*3 + *3/*3 are not associated with response to methadone in people with Opioid-Related Disorders as compared to CYP2C9 *1/*1 + *1/*2.","alleles":"*1/*3 + *2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874600,"variant_haplotypes":"rs2011404","gene":"UGT1A4","drugs":"clozapine","pmid":40048458,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"In the model adjusted for clinical predictors of clozapine concentration, including smoking status and cumulative dose of clozapine, five SNPs (rs28371726 and rs202102799 in CYP2D6; rs4148323 and rs34946978 in UGT1A1; and rs2011404 in UGT1A4) showed significant associations with clozapine concentration. The rs number for each SNP associated with clozapine concentration is shown in Table 3.\" Table does not state which allele or direction of effect for these SNPs, but lists as c.471T\u2009>\u2009C so assuming C as effect allele and increased concentration (beta value in table is positive).","sentence":"Allele C is associated with increased concentrations of clozapine in people with Schizophrenia or Psychotic Disorder as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3384479","article_title":"Vitamin K antagonists in children with heart disease: height and VKORC1 genotype are the main determinants of the warfarin dose requirement","article_path":"articles/PMC3384479.md","variant_annotation_id":982047968,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":22130800,"phenotype_category":"Dosage","significance":"no","notes":"In univariate analysis the weekly warfarin dose was most strongly associated with age, weight, height, BSA, sex, and VKORC1 genotype. There was a trend of association between the presence of 1 or 2 CYP2C9 variant alleles and decreased dose requirement but the association was not significant (this is the first reported p-value).; After statistical adjustment for confounding variables the multivariate analysis showed that CYP2C9 genotype (number of variant * alleles, 0,1,2) explained 2% of the observed inter individual variability in warfarin dose (this is the second reported p-value).","sentence":"CYP2C9 *2 + *3 are associated with dose of warfarin in children as compared to CYP2C9 *1.","alleles":"*2 + *3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2760462","article_title":"Atazanavir pharmacokinetics in genetically determined CYP3A5 expressors versus non-expressors","article_path":"articles/PMC2760462.md","variant_annotation_id":1450985160,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"ritonavir","pmid":19710077,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"For the haplotype \"1236C/2677G/3435C\" \"overall ritonavir CL/F was \u223c1.9-fold faster in subjects with zero versus two CGC haplotype\"\"and was 1.47-fold faster in subjects with zero versus one CGC copy\". In this two-phase study, healthy participants were given atazanavir only for 7 days and then were co-administered ritonavir as a booster for days 8-14. The results here are for day 8-14 (atazanavir plus ritonavir).","sentence":"Genotype AA is associated with increased clearance of ritonavir in healthy individuals as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4667947","article_title":"Methadone pharmacogenetics: CYP2B6 polymorphisms determine plasma concentrations, clearance and metabolism","article_path":"articles/PMC4667947.md","variant_annotation_id":1447944355,"variant_haplotypes":"CYP2B6*1, CYP2B6*4, CYP2B6*6","gene":"CYP2B6","drugs":"methadone","pmid":26389554,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"PK measures were AUC, clearance, peak concentration, exposure.","sentence":"CYP2B6 *1/*4 + *4/*6 is associated with increased clearance of methadone in healthy individuals as compared to CYP2B6 *1/*1.","alleles":"*1/*4 + *4/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163542,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients, this was one of the variants that passed validation in both populations. Direction of effect was not stated.","sentence":"Allele C is associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC9537548","article_title":"A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients","article_path":"articles/PMC9537548.md","variant_annotation_id":1451919700,"variant_haplotypes":"rs9332241","gene":"CYP2C9","drugs":"warfarin","pmid":36210801,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"measured as decreased S-warfarin/R-warfarin ratio and using a genome wide significance threshold of < 3.846 \u00d7 10\u22129. Effect direction from supplementary table S14. Authors note this is \"three prime untranslated region variant of CYP2C9, in LD with CYP2C9*8\".","sentence":"Allele T is associated with decreased metabolism of warfarin in people with Atrial Fibrillation, venous thromboembolism or Heart Valve Diseases as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation, Other:Venous thromboembolism, Other:Heart Valve Diseases","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491211,"variant_haplotypes":"rs2112865","gene":"SV2C","drugs":"olanzapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype AA is not associated with response to olanzapine in people with Schizophrenia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3523080","article_title":"PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients","article_path":"articles/PMC3523080.md","variant_annotation_id":1184512556,"variant_haplotypes":"rs2307424","gene":"NR1I3","drugs":"efavirenz","pmid":23173844,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Plasma levels of efavirenz were not statistically significantly different between the GG and AG genotypes of this SNP. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with metabolism of efavirenz in people with HIV Infections as compared to genotype AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5432414","article_title":"ABC Transporter Polymorphisms are Associated with Irinotecan Pharmacokinetics and Neutropenia","article_path":"articles/PMC5432414.md","variant_annotation_id":1448435351,"variant_haplotypes":"rs3743527","gene":"ABCC1","drugs":"SN-38","pmid":27845419,"phenotype_category":"Metabolism/PK","significance":"no","notes":"AUC of SN-38 was adjusted for irinotecan dose.","sentence":"Genotypes CT + TT are not associated with exposure to SN-38 in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862203,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs2075507,rs7287550, rs5746849, rs737866, rs6269, rs2239393, rs4818, rs740603, rs174699, rs165728). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here.","sentence":"Allele A is associated with decreased dose of morphine in people with Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC1884959","article_title":"The effect of the cytochrome P450 CYP2C8 polymorphism on the disposition of (R)-ibuprofen enantiomer in healthy subjects","article_path":"articles/PMC1884959.md","variant_annotation_id":1450935268,"variant_haplotypes":"CYP2C8*1, CYP2C8*3","gene":"CYP2C8","drugs":"ibuprofen","pmid":15606441,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The effect on (R)-ibuprofen pharmacokinetics is associated with the CYP2C8*3 allele. There was a statistically significant gene\u2013dose effect for AUC (P = 0.025), t1/2 (P < 0.025) and drug clearance (P = 0.030). Most individuals that possessed the CYP2C8*3 allele were also carriers of CYP2C9*2. However, there were no significant differences between the carriers of CYP2C8*3 who did or did not possess the CYP2C9*2 allele.","sentence":"CYP2C8 *3 is associated with decreased metabolism of ibuprofen in healthy individuals as compared to CYP2C8 *1/*1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4151246","article_title":"Reduced Renal Clearance of Cefotaxime in Asians with a Low-Frequency Polymorphism of OAT3 (SLC22A8)","article_path":"articles/PMC4151246.md","variant_annotation_id":982017795,"variant_haplotypes":"rs11568482","gene":"SLC22A8","drugs":"cefotaxime","pmid":23649425,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype AT is associated with decreased clearance of cefotaxime in healthy individuals as compared to genotype TT.","alleles":"AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC10951231","article_title":"Individualized atomoxetine response and tolerability in children with ADHD receiving different dosage regimens: the need for CYP2D6 genotyping and therapeutic drug monitoring to dance together","article_path":"articles/PMC10951231.md","variant_annotation_id":1452428883,"variant_haplotypes":"CYP2D6*10","gene":"CYP2D6","drugs":"atomoxetine","pmid":38504095,"phenotype_category":"Efficacy","significance":"yes","notes":"\"As expected, CYP2D6 IMs demonstrated a better clinical response than those EMs due to the higher drug exposure under q.m. dosing regimen (Table \u200b(Table3).3). However, statistically significant differences of concentrations (Fig. 4B, C), cut-off values (Fig. 4E-F), and clinical response were not found under the other two dosing regimens, possibly due to the small sample size.\" The regimens were qm (once morning), bid (twice daily) and qn (once nightly). Study measured CYP2D6*2, CYP2D6*10, and CYP2D6*14 and grouped *10/*10 as intermediate. There was only one PM that was excluded from analysis.","sentence":"CYP2D6 *10/*10 (assigned as intermediate metabolizer phenotype) is associated with increased clinical benefit to atomoxetine in children with Attention Deficit Disorder with Hyperactivity as compared to CYP2D6 normal metabolizer.","alleles":"*10/*10","specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC7039663","article_title":"Pharmacogenetics predictors of methylphenidate efficacy in childhood ADHD","article_path":"articles/PMC7039663.md","variant_annotation_id":1450180291,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"methylphenidate","pmid":29230023,"phenotype_category":"Efficacy","significance":"yes","notes":"It is assumed that the alleles are reported in the paper as being on the positive strand.","sentence":"Allele G is associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele C.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10499425","article_title":"Variant\u2010based heritability assessment of dexmedetomidine and fentanyl clearance in pediatric patients","article_path":"articles/PMC10499425.md","variant_annotation_id":1452141880,"variant_haplotypes":"rs560765906","gene":"CACNB2","drugs":"dexmedetomidine","pmid":37353859,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Data from Table S2, direction of effect and risk allele not clear. Minor allele and frequency stated. Mapped to dbSNP using genomic location 10:18437025:A:T on hg19/GRCh37. \"GWAS failed to identify any variants meeting the genome-wide statistical significance threshold of 5\u2009\u00d7\u200910\u22128\" This is second highest scoring variant.","sentence":"Allele T is associated with decreased clearance of dexmedetomidine in children with Pain, Postoperative as compared to allele A.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2762405","article_title":"Genetic Polymorphism of Inosine Triphosphate Pyrophosphatase Is a Determinant of Mercaptopurine Metabolism and Toxicity During Treatment for Acute Lymphoblastic Leukemia","article_path":"articles/PMC2762405.md","variant_annotation_id":1448106601,"variant_haplotypes":"rs1127354","gene":"ITPA","drugs":"mercaptopurine","pmid":18685564,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The A allele was associated with increased methylmercaptopurine nucleotide metabolite concentration in bone marrow leukemia cells. Concentrations were also found to be significantly higher in erythrocytes of patients with an A allele during continuation therapy with mercaptopurine.","sentence":"Allele A is associated with metabolism of mercaptopurine in people with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2684883","article_title":"CYP4F2 Is a Vitamin K1 Oxidase: An Explanation for Altered Warfarin Dose in Carriers of the V433M Variant","article_path":"articles/PMC2684883.md","variant_annotation_id":1183700228,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":19297519,"phenotype_category":"Dosage","significance":"yes","notes":"TT > CT > CC.","sentence":"Allele T is associated with increased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6767327","article_title":"Enantiospecific Pharmacogenomics of Fluvastatin","article_path":"articles/PMC6767327.md","variant_annotation_id":1450823501,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"fluvastatin","pmid":30989645,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant is significantly associated with increased area under the plasma concentration-time curve (AUC) of both 3R,5S-fluvastatin and 3S,5R-fluvastatin and total fluvastatin in the candidate gene study.","sentence":"CYP2C9 *2 is associated with increased concentrations of fluvastatin in healthy individuals as compared to CYP2C9 *1/*1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157166,"variant_haplotypes":"rs529520","gene":"OPRD1","drugs":"buprenorphine","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to buprenorphine in people with Opioid-Related Disorders as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC9819208","article_title":"Impact of ABCC2 1249G>A and \u221224C>T Polymorphisms on Lacosamide Efficacy and Plasma Concentrations in Uygur Pediatric Patients With Epilepsy in China","article_path":"articles/PMC9819208.md","variant_annotation_id":1451921167,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"lacosamide","pmid":36253887,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype CC is associated with increased concentrations of lacosamide in children with Epilepsy as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5711795","article_title":"Pharmacogenetic study of seven polymorphisms in three nicotinic acetylcholine receptor subunits in smoking-cessation therapies","article_path":"articles/PMC5711795.md","variant_annotation_id":1449156003,"variant_haplotypes":"rs55781567","gene":"CHRNA5","drugs":"bupropion, nicotine, varenicline","pmid":29196725,"phenotype_category":"Efficacy","significance":"no","notes":"Authors looked at the effect of variants on response to the smoking cessation therapies varenicline, bupropion and nicotine replacement therapy.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to bupropion, nicotine and varenicline in people with Tobacco Use Disorder as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6375065","article_title":"An expanded pharmacogenomics warfarin dosing table with utility in generalised dosing guidance","article_path":"articles/PMC6375065.md","variant_annotation_id":1448109658,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":27121899,"phenotype_category":"Dosage","significance":"not stated","notes":"This variant annotation is part of a dosing algorithm table based on 8 genetic variants.","sentence":"Allele A is associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5425333","article_title":"Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta\u2010Analysis","article_path":"articles/PMC5425333.md","variant_annotation_id":1448631796,"variant_haplotypes":"rs1050152","gene":"SLC22A4","drugs":"metformin","pmid":27859023,"phenotype_category":"Efficacy","significance":"no","notes":"This variant is not associated with metformin glycemic response assessed as HbA1c reduction in patients on metformin monotherapy.","sentence":"Allele T is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3292264","article_title":"Exploration of CYP450 and drug transporter genotypes and correlations with nevirapine exposure in Malawians","article_path":"articles/PMC3292264.md","variant_annotation_id":827823804,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"nevirapine","pmid":22111602,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"no association with PK parameters area under the concentration time curve or apparent oral clearance of the drug. [stat_test: univariate and multiple linear regression]","sentence":"Genotypes AA + AG are not associated with decreased clearance of nevirapine in people with HIV Infections as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6151284","article_title":"Potential role of PIN1 genotypes in predicting benefit from oxaliplatin- and irinotecan-based treatment in patients with metastatic colorectal cancer","article_path":"articles/PMC6151284.md","variant_annotation_id":1449752734,"variant_haplotypes":"rs1042522","gene":"TP53","drugs":"oxaliplatin","pmid":29925895,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients receiving FOLFOX (oxaliplatin+fluorouracil+leucovorin) with or without bevacizumab. No significant association with progression-free survival or overall survival was seen.","sentence":"Genotypes CG + GG is associated with decreased response to oxaliplatin in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3797132","article_title":"SLCO1B1 and SLC19A1 Gene Variants and Irinotecan-Induced Rapid Response and Survival: A Prospective Multicenter Pharmacogenetics Study of Metastatic Colorectal Cancer","article_path":"articles/PMC3797132.md","variant_annotation_id":1183697518,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"capecitabine, fluorouracil, irinotecan, leucovorin","pmid":24143213,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients were split into two groups based on treatment. One group received irinotecan, fluorouracil, and leucovorin, and the other group received irinotecan and capecitabine. Patients carrying the A allele showed significantly greater rapid response rate, progression free survival, and irinotecan-related time to treatment failure as compared to patients with the GG genotype. In addition, when combined with rs1051266, patients carrying the A allele for this SNP and homozygous for the G allele at rs1051266 had significantly higher rapid response rates than patients with any other combination of genotypes.","sentence":"Genotypes AA + AG are associated with increased response to capecitabine, fluorouracil, irinotecan or leucovorin in people with Colorectal Neoplasms as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4108472","article_title":"Characterization of a Novel BCHE \u201cSilent\u201d Allele: Point Mutation (p.Val204Asp) Causes Loss of Activity and Prolonged Apnea with Suxamethonium","article_path":"articles/PMC4108472.md","variant_annotation_id":1184989031,"variant_haplotypes":"BCHE deficiency","gene":"BCHE","drugs":"succinylcholine","pmid":25054547,"phenotype_category":"Toxicity, Other","significance":"no","notes":"This is a case report of prolonged neuromuscular block after administration of suxamethonium and to the discovery of a novel BCHE deficiency variant, c.695T>A, p.Val204Asp.","sentence":"BCHE deficiency is associated with decreased metabolism of succinylcholine.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC8530979","article_title":"Pharmacogenetic Predictors of Cannabidiol Response and Tolerability in Treatment\u2010Resistant Epilepsy","article_path":"articles/PMC8530979.md","variant_annotation_id":1451553044,"variant_haplotypes":"rs6729738","gene":null,"drugs":"cannabidiol","pmid":34464454,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients carrying the C allele of the variant were were likely to respond to cannabidiol in patients with treatment-resistant epilepsy (TRE).","sentence":"Genotype CC is associated with increased response to cannabidiol in people with Epilepsy as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC2291379","article_title":"Influence of the CYP2D6*4 polymorphism on dose, switching and discontinuation of antidepressants","article_path":"articles/PMC2291379.md","variant_annotation_id":1446903849,"variant_haplotypes":"CYP2D6*1, CYP2D6*4","gene":"CYP2D6","drugs":"amitriptyline, clomipramine, doxepin, imipramine, maprotiline, nortriptyline, opipramol","pmid":18070221,"phenotype_category":"Toxicity","significance":"no","notes":"(*4*4 vs. *1*1; this SNP was the only SNP assayed and this method could not detect *5.) Tricyclic antidepressants were grouped together for this analysis (45.9 % of patients were taking Amitriptyline; 8.2% Maprotiline;6.6% Clomipramine; 2.9% Nortriptyline;2.4% Imipramine;0.7% Dosulepin;0.3% Doxepin;0.2% Opipramol. No differences in discontinuation of antidepressants below 45 days was found.","sentence":"CYP2D6 *4/*4 is not associated with discontinuation of amitriptyline, clomipramine, doxepin, imipramine, maprotiline, nortriptyline and opipramol in people with Depression as compared to CYP2D6 *1/*1.","alleles":"*4/*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"discontinuation of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3910846","article_title":"Population Pharmacokinetic and Pharmacogenetic Analysis of Nevirapine in Hypersensitive and Tolerant HIV-Infected Patients from Malawi","article_path":"articles/PMC3910846.md","variant_annotation_id":1296598953,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"nevirapine","pmid":24217698,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Those with the CT genotype had a 33% reduction in clearance of nevirapine as compared to those with the TT genotype. This SNP remained in the multiple SNP analysis model after backwards elimination.","sentence":"Genotype CT is associated with decreased clearance of nevirapine in people with HIV Infections as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5485718","article_title":"Genomewide Association Study Identifies Novel Genetic Loci That Modify Antiplatelet Effects and Pharmacokinetics of Clopidogrel","article_path":"articles/PMC5485718.md","variant_annotation_id":1448624896,"variant_haplotypes":"rs2487032","gene":"ABCA1","drugs":"clopidogrel","pmid":27981573,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant was associated increased the concentration of plasma clopidogrel\u2019s active metabolite H4 and increased inhibition of platelet function. However, it was not associated with clinical outcome of clopidogrel.","sentence":"Allele A is associated with increased metabolism of clopidogrel as compared to genotype GG.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11605493","article_title":"Genetic polymorphisms to identify patients with an optimal response to tildrakizumab in psoriasis patients from real\u2010life clinical practice","article_path":"articles/PMC11605493.md","variant_annotation_id":1452554481,"variant_haplotypes":"rs708567","gene":"IL17RC","drugs":"tildrakizumab","pmid":39081053,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Our data also suggest that patients carrying the genotype GG for rs610604 (TNFAIP3), CTGT/\u2212 for rs72167053 (PDE4D) and CT for rs9373839 (ATG5) had a higher probability to not achieve PASI \u22641 after 12\u2009months of tildrakizumab treatment, while those with CT for rs708567 (IL17RC) have a higher chance to have an optimal response to this treatment.\" Table 2, 3 and figure 1 show CC as the genotype associated with improved response.","sentence":"Genotype CC is associated with increased clinical benefit to tildrakizumab in people with Psoriasis as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC11241034","article_title":"Exudative Age-Related Macular Degeneration: Association between Treatment Efficacy and Single-Nucleotide Variants in RAD51B, TRIB1, COL8A1, COL10A1, IL-9, IL-10, and VEGFA Genes","article_path":"articles/PMC11241034.md","variant_annotation_id":1452530324,"variant_haplotypes":"rs699947","gene":"VEGFA","drugs":"VEGF/VEGFR (Vascular Endothelial Growth Factor) inhibitors","pmid":38999967,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Also, we found that rs699947 heterozygous and homozygous minor allele carriers had higher CMT after 6 months of anti-VEGF treatment than wild-type genotype carriers (p = 0.032) (Table 4). However, the results did not remain statistically significant after the Bonferroni correction was applied.\" \"In VEGFA SNVs and anti-VEGF treatment response analysis, we found that rs699947 heterozygous and homozygous minor allele carriers had better BCVA before treatment and after 3 and 6 months of treatment than wild-type genotype carriers (p = 0.027; p = 0.003; p = 0.022, respectively). Because of the Bonferroni correction, statistical significance was maintained only in the analysis of the genotype and BCVA results after 3 months of treatment.\"","sentence":"Genotypes AC + CC is associated with increased response to VEGF/VEGFR (Vascular Endothelial Growth Factor) inhibitors in people with Macular Degeneration as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6033076","article_title":"Comprehensive Pharmacogenomic Study Reveals an Important Role of UGT1A3 in Montelukast Pharmacokinetics","article_path":"articles/PMC6033076.md","variant_annotation_id":1449576503,"variant_haplotypes":"rs7604115","gene":"UGT1A3","drugs":"montelukast","pmid":28940478,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This UGT1A3 intronic variant is associated with reduced area under the plasma concentration-time curve (AUC) of montelukast (by 18% per copy of the minor allele; P=1.83 \u00d7 10-10). This variant is strongly linked with UGT1A3*2 which is associated with increased UGT1A3 expression.","sentence":"Allele T is associated with decreased concentrations of montelukast in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5346034","article_title":"Effect of UGT2B10, UGT2B17, FMO3, and OCT2 Genetic Variation on Nicotine and Cotinine Pharmacokinetics and Smoking in African Americans","article_path":"articles/PMC5346034.md","variant_annotation_id":1448602097,"variant_haplotypes":"rs2266782","gene":"FMO3","drugs":"nicotine","pmid":28178031,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This SNP is not associated with the pharmacokinetic measures of nicotine. Measures include half-life, Cmax, AUC, non renal clearance, and total clearance.","sentence":"Allele G is not associated with metabolism of nicotine in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3061841","article_title":"The Relation Between CYP2C19 Genotype and Phenotype in Stented Patients on Maintenance Dual Antiplatelet Therapy","article_path":"articles/PMC3061841.md","variant_annotation_id":769245468,"variant_haplotypes":"rs12248560","gene":"CYP2C19","drugs":"aspirin, clopidogrel","pmid":21392617,"phenotype_category":null,"significance":"yes","notes":"For 20 microMolar ADP-induced platelet aggregation, the prevalence of High Platelet Reactivity (HPR) was lower in (TT +TC) vs CC, but the template doesn't accommodate this. *17 SNP. For 5 microMolar ADP-induced platelet aggregation, the association was NOT significant ( p = 0.32). [stat_test: chi-square]","sentence":"Allele T is associated with increased response to aspirin and clopidogrel in people with Coronary Artery Disease as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566674,"variant_haplotypes":"rs2018417","gene":"ADH1B","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this snp is NOT significant after Bonferroni correction (<0.00049). Also, the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele A is associated with metabolism of ethanol.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3055694","article_title":"Genome-Wide Pharmacogenomic Study of Neurocognition As an Indicator of Antipsychotic Treatment Response in Schizophrenia","article_path":"articles/PMC3055694.md","variant_annotation_id":981502111,"variant_haplotypes":"rs11240594","gene":"SLC26A9","drugs":"olanzapine","pmid":21107309,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"Adjacent SNPs also showed evidence for association. Associated allele is not clear; it is reported as the minor allele being associated with greater response. dbSNP shows A to generally be the minor allele, but this is not the case in all populations. Most of the study participants were of White or Black ancestry (for which A is reported to be the minor allele), but only a study subset was genotyped, and the population distribution is not clear. GWAS p =1.4 x 10 (-7) for 492K SNPs, so Bonferroni-corrected p is 0.068 .","sentence":"Allele A is associated with increased response to olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5519037","article_title":"Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer","article_path":"articles/PMC5519037.md","variant_annotation_id":1448636679,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"everolimus","pmid":28727815,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note: alleles have been complemented to the positive chromosomal strand.","sentence":"Genotypes AA + AC are not associated with concentrations of everolimus in women with Breast Neoplasms as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715532,"variant_haplotypes":"rs4296738","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Dosage","significance":"no","notes":"There was no significant difference in 24 hour fentanyl use between the genotype groups.","sentence":"Allele A is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449716001,"variant_haplotypes":"rs7583431","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC11787782","article_title":"Pharmacodynamic Modeling of Warfarin Dosing Algorithm for Cardiovascular Patients in Indonesia: A Tailored Method to Anticoagulation Therapy","article_path":"articles/PMC11787782.md","variant_annotation_id":1452840820,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":39896937,"phenotype_category":"Dosage","significance":"yes","notes":"\"The Kruskal\u2013Wallis test on genotype showed a p-value of 0.02 (<0.05), suggesting that the CC, CT, and TT genotypes have a significant association with warfarin dosage. \" \"Dosing based on the CYP4F2 rs2108622 genetic polymorphism showed that patients with CC, CT, and TT genotypes required doses of 19 mg, 21 mg, and 33 mg, respectively. \"","sentence":"Allele T is associated with increased dose of warfarin in people with Rheumatic Heart Disease, Atrial Fibrillation, Heart Valve Diseases or Coronary Artery Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatic Heart Disease, Other:Atrial Fibrillation, Other:Heart Valve Diseases, Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2641037","article_title":"Absorption of Montelukast is Transporter Mediated: a Common Variant of OATP2B1 is Associated with Reduced Plasma Concentrations and Poor Response","article_path":"articles/PMC2641037.md","variant_annotation_id":981417773,"variant_haplotypes":"rs2306168","gene":"SLCO2B1","drugs":"montelukast","pmid":19151602,"phenotype_category":"Efficacy","significance":"no","notes":"Also not associated with plasma concentration of montelukast.","sentence":"Allele C is not associated with response to montelukast in people with Asthma as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4693577","article_title":"Beating the odds: efficacy and toxicity of dihydropyrimidine dehydrogenase\u2010driven adaptive dosing of 5\u2010FU in patients with digestive cancer","article_path":"articles/PMC4693577.md","variant_annotation_id":1446903510,"variant_haplotypes":"DPYD poor metabolizer","gene":"DPYD","drugs":"fluorouracil","pmid":26392323,"phenotype_category":"Dosage","significance":"yes","notes":"The study was an attempt to verify a novel assay to phenotype DPYD enzyme activity. DPYD deficiency was based on monitoring endogenous dihydrouracil to uracil (UH2/U) ratio in plasma after standard liquid-liquid extraction using HPLC-UV. Ratio values were used to determine DPD status as a continuous variable and because no mathematical model was available, patients were categorized on UH2/U ratio values into poor (mild, intermediate, profound) or extensive metabolizers. Doses were tailored to a patient's UH2/U ratio determined DPYD phenotype and after dose tailoring the authors found no significant difference between clinical benefit or toxicity between PM and EM groups.","sentence":"DPYD poor metabolizer is associated with decreased dose of fluorouracil in people with Colorectal Neoplasms, Gastrointestinal Neoplasms and Rectal Neoplasms as compared to DPYD normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms, Disease:Gastrointestinal Neoplasms, Disease:Rectal Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5558529","article_title":"CYP2D6 pharmacogenetic and oxycodone pharmacokinetic association study in pediatric surgical patients","article_path":"articles/PMC5558529.md","variant_annotation_id":1448603574,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*4, CYP2D6*5, CYP2D6*6, CYP2D6*9, CYP2D6*17, CYP2D6*41","gene":"CYP2D6","drugs":"oxymorphone","pmid":28244808,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"EMs were genotypes as *1/*1, *1/*9, *2A/*9, *1/*2A, *2A/*2A, IMs were *1/*4, *1/*6, *17/*41, *2A/*4, *2A/*5, PM was *4/*41.","sentence":"CYP2D6 *1/*1 + *1/*9 + *2/*9 + *1/*2 + *2/*2 (assigned as normal metabolizer phenotype) is associated with increased exposure to oxymorphone in children with as compared to CYP2D6 *1/*4 + *1/*6 + *17/*41 + *2/*4 + *2/*5 + *4/*41 (assigned as intermediate metabolizer and poor metabolizer phenotype) .","alleles":"*1/*1 + *1/*9 + *2/*9 + *1/*2 + *2/*2","specialty_population":"Pediatric","metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*4 + *1/*6 + *17/*41 + *2/*4 + *2/*5 + *4/*41","comparison_metabolizer_types":"intermediate metabolizer and poor metabolizer"} +{"pmcid":"PMC3612775","article_title":"Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study","article_path":"articles/PMC3612775.md","variant_annotation_id":1451355040,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"simvastatin","pmid":23100282,"phenotype_category":"Efficacy","significance":"yes","notes":"However, the effect size was very small.","sentence":"Genotypes CC + CT are associated with decreased response to simvastatin as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038027,"variant_haplotypes":"rs675","gene":"APOA4","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.","sentence":"Genotypes AA + AT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT.","alleles":"AA + AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC11160041","article_title":"CBR1 and CBR3 pharmacogenetics and their influence on doxorubicin disposition in Asian breast cancer patients","article_path":"articles/PMC11160041.md","variant_annotation_id":1448105654,"variant_haplotypes":"rs20572","gene":"CBR1","drugs":"doxorubicin","pmid":19016765,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype CC is associated with decreased exposure to doxorubicin in people with Breast Neoplasms as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3858547","article_title":"High imatinib dose overcomes insufficient response associated with ABCG2 haplotype in chronic myelogenous leukemia patients","article_path":"articles/PMC3858547.md","variant_annotation_id":1184512524,"variant_haplotypes":"rs13120400","gene":"ABCG2","drugs":"imatinib","pmid":24123600,"phenotype_category":"Efficacy","significance":"yes","notes":"Individuals with the CC or CT genotype had a higher cumulative incidence of major molecular response (CI-MMR, estimated using Sokal score) after 18 months of treatment with a 400mg/day dose of imatinib, as compared to those with the TT genotype. No significant results were seen when considering patients taking a 600mg/day dose (n=107; p=0.74). The authors note that they used the Benjamini and Hochberg method for multiple testing issues.","sentence":"Genotypes CC + CT is associated with increased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928144,"variant_haplotypes":"rs4818","gene":"COMT","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"The G allele was initially significantly more frequent in patients designated as responders to risperidone (i.e. >50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.","sentence":"Allele G is associated with increased response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121680,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test, subjective effects of oxycodone.","sentence":"Allele G is not associated with response to oxycodone as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC11608742","article_title":"Effects of genetic variants of organic cation transporters on metformin response in newly diagnosed patients with type 2 diabetes","article_path":"articles/PMC11608742.md","variant_annotation_id":1452724989,"variant_haplotypes":"rs34399035","gene":"SLC47A2","drugs":"metformin","pmid":39612420,"phenotype_category":"Efficacy","significance":"no","notes":"\"Other SNPs (rs4621031, rs34399035, rs1800058, and rs11212617) had no significant impact on metformin response. \"","sentence":"Allele T is not associated with decreased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4236071","article_title":"Adiponectin Gene Polymorphism rs2241766 T/G Is Associated with Response to Pioglitazone Treatment in Type 2 Diabetic Patients from Southern China","article_path":"articles/PMC4236071.md","variant_annotation_id":1444666966,"variant_haplotypes":"rs2082940","gene":"ADIPOQ","drugs":"pioglitazone","pmid":25405601,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as \"any decrease greater than (or equal to) 15%\" of glycated hemoglobin (HbA1C%).","sentence":"Genotype CC are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757055,"variant_haplotypes":"rs7542281","gene":"F5","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele C is not associated with dose of warfarin in people with heart valve replacement as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755934,"variant_haplotypes":"rs195862","gene":"POU2F2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele C is not associated with response to platinum in people with Lung Neoplasms as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6033076","article_title":"Comprehensive Pharmacogenomic Study Reveals an Important Role of UGT1A3 in Montelukast Pharmacokinetics","article_path":"articles/PMC6033076.md","variant_annotation_id":1449576525,"variant_haplotypes":"rs704212","gene":"ABCC9","drugs":"montelukast","pmid":28940478,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant is associated with reduced area under the plasma concentration-time curve (AUC) of montelukast (13.7% reduction per copy of each minor allele, P=2.19 \u00d7 10-4).","sentence":"Allele T is associated with decreased concentrations of montelukast in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6423619","article_title":"Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19","article_path":"articles/PMC6423619.md","variant_annotation_id":1450935708,"variant_haplotypes":"rs149158426","gene":"CYP2C9","drugs":"tolbutamide","pmid":30745309,"phenotype_category":"Metabolism/PK","significance":"no","notes":"In vitro analysis showed that intrinsic clearance of tolbutamide by CYP2C9 protein containing the C allele was 98.1% of that of the WT protein. Variant referred to as 801C>T in the paper.","sentence":"Allele T is not associated with clearance of tolbutamide as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757018,"variant_haplotypes":"rs3093158","gene":"CYP4F2","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele T is not associated with dose of warfarin in people with heart valve replacement as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4833149","article_title":"The pharmacokinetic and pharmacodynamic interaction of clopidogrel and cilostazol in relation to CYP2C19 and CYP3A5 genotypes","article_path":"articles/PMC4833149.md","variant_annotation_id":1446907247,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"cilostazol","pmid":26426352,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors observed significant differences in AUC (ng*hr/ml) of cilostazol and cilostazol metabolites (3,4-dehydro cilostozal and 4\" turns-hydroxyl cilostazol) when comparing between CYP2C19 metabolizer groups [extensive (CYP2C19 *1/*1), intermediate (CYP2C19 *1/*2, *1/*3), and poor (CYP2C19 *2/*2, *2/*3, *3/*3). Significant differences were not generally observed in AUC of cilostazole, or cilostozol metabolites when comparing within metabolizer groups, or between metabolizer groups when clopidogrel was co-adminsitered with cilostazol.","sentence":"CYP2C19 *2 + *3 are associated with increased concentrations of cilostazol in healthy individuals as compared to CYP2C19 *1.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2857717","article_title":"The efficacies of clozapine and haloperidol in refractory schizophrenia are related to DTNBP1 variation","article_path":"articles/PMC2857717.md","variant_annotation_id":699642395,"variant_haplotypes":"rs742105","gene":"DTNBP1","drugs":"clozapine","pmid":19369910,"phenotype_category":"Efficacy","significance":"yes","notes":"Significance for genotype shown for african americans, significance not shown for the genotype for european american but was significant for diplotype with rs909706.","sentence":"Genotypes CT + TT are associated with increased response to clozapine in people with Schizophrenia as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3726442","article_title":"Relationship between Genotypes Sult1a2 and Cyp2d6 and Tamoxifen Metabolism in Breast Cancer Patients","article_path":"articles/PMC3726442.md","variant_annotation_id":1444934955,"variant_haplotypes":"CYP2D6*1, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6, CYP2D6*9, CYP2D6*10, CYP2D6*17, CYP2D6*41","gene":"CYP2D6","drugs":"endoxifen","pmid":23922954,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note: article provides diplotypes as wt/wt or wt/*3 etc. CYP2D6 wt includes *1, *2, *35 but the individual diplotypes concerning wt alleles are not included so compared to diplotypes are examples with *1 could be *2 or *35. Pre and postmenopausal woman with estrogen receptor-positive breast cancer undergoing tam treatment after surgery and chemotherapy/radiation. Patients were excluded if tamoxifen therapy was started with either chemotherapy or radiation, SSRI treatment was allowed. Roche-AmpliChip\u00ae CYP450 Test was used. Genotypes were classified into the three groups: wt/wt, patients with 2 or more copies of any functional allele; wt/v, patients carrying one functional allele and one variant -intermediate or null- allele; v/v, patients featuring intermediate or null alleles. [pre-menopausal][post-menopausal] [adjuvant] [DNA source: blood] [HWE: yes]","sentence":"CYP2D6 *3/*9 + *4/*4 + *4/*5 + *4/*10 + *4/*41 + *5/*17 + *5/*41 + *41/*41 are associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*1 + *1/*3 + *1/*4 + *1/*5 + *1/*6 + *1/*9 + *1/*17 + *1/*41.","alleles":"*3/*9 + *4/*4 + *4/*5 + *4/*10 + *4/*41 + *5/*17 + *5/*41 + *41/*41","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3 + *1/*4 + *1/*5 + *1/*6 + *1/*9 + *1/*17 + *1/*41","comparison_metabolizer_types":null} +{"pmcid":"PMC5412267","article_title":"OPRM1 c.118A>G Polymorphism and Duration of Morphine Treatment Associated with Morphine Doses and Quality-of-Life in Palliative Cancer Pain Settings","article_path":"articles/PMC5412267.md","variant_annotation_id":1448612967,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"morphine","pmid":28346387,"phenotype_category":"Dosage","significance":"no","notes":"The setting was for palliative care of cancer patients.","sentence":"Allele G is not associated with dose of morphine in people with Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC11481807","article_title":"Serotonin transporter 5-HTTLPR polymorphism and escitalopram treatment response in patients with major depressive disorder","article_path":"articles/PMC11481807.md","variant_annotation_id":1452647600,"variant_haplotypes":"rs9316233","gene":"HTR2A","drugs":"escitalopram","pmid":39407134,"phenotype_category":"Efficacy","significance":"no","notes":"\"No significant relationship between HTR2A rs9316233 and BDNF rs962369 variants with response to escitalopram treatment was observed.\" Table 3 lists G as minor allele and C as common allele.","sentence":"Allele G is not associated with decreased response to escitalopram in people with Major Depressive Disorder as compared to allele C (assigned as normal metabolizer phenotype) .","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5600689","article_title":"Impact of Single Nucleotide Polymorphisms on Plasma Concentrations of Efavirenz and Lopinavir/ritonavir in Chinese Children Infected with the Human Immunodeficiency Virus","article_path":"articles/PMC5600689.md","variant_annotation_id":1448821786,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"efavirenz","pmid":28718515,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"An association between ABCB1 3435C>T and EFV concentrations was suggested (p=0.0827) without statistical significance\".","sentence":"Genotypes AA + AG are not associated with concentrations of efavirenz in children with HIV Infections as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4110085","article_title":"The influence of folate pathway polymorphisms on high-dose methotrexate-related toxicity and survival in children with non-Hodgkin malignant lymphoma","article_path":"articles/PMC4110085.md","variant_annotation_id":1451511420,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"methotrexate","pmid":25177243,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes AA + AG are associated with increased concentrations of methotrexate in children with Lymphoma, Non-Hodgkin as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Non-Hodgkin Lymphoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4154311","article_title":"A randomized placebo-controlled trial of ataluren for the treatment of nonsense mutation cystic fibrosis","article_path":"articles/PMC4154311.md","variant_annotation_id":1447952420,"variant_haplotypes":"rs74767530","gene":"CFTR","drugs":"ataluren","pmid":24836205,"phenotype_category":"Efficacy","significance":"no","notes":"Outcomes assessed for all nonsense mutations together (W1282X, G542X, R1162X, and R553X). Case-control study with placebo. Endpoint measured was change in Forced Expiratory Volume in 1 second. A difference was seen in the subset of patients on tobramycin.","sentence":"Allele T is not associated with response to ataluren in people with Cystic Fibrosis as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3890033","article_title":"Association of single nucleotide polymorphisms in MTHFR and ABCG2 with the different efficacy of first-line chemotherapy in metastatic colorectal cancer","article_path":"articles/PMC3890033.md","variant_annotation_id":1184747595,"variant_haplotypes":"rs2231137","gene":"ABCG2","drugs":"antineoplastic agents","pmid":24338217,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in response rate or progression-free survival time was seen between the genotypes. Patients were either receiving FOLFOX/XELOX or FOLFIRI regimens (respectively: fluorouracil, leucovorin, oxaliplatin; capecitabine, oxaliplatin; fluorouracil, leucovorin, irinotecan). Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype CC is not associated with response to antineoplastic agents in people with Colorectal Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6714829","article_title":"Associations of the SLCO1B1 Polymorphisms With Hepatic Function, Baseline Lipid Levels, and Lipid-lowering Response to Simvastatin in Patients With Hyperlipidemia","article_path":"articles/PMC6714829.md","variant_annotation_id":1451226960,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"simvastatin","pmid":30336686,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients carrying 521TT genotype had greater TC and LDL-C reduction in response to simvastatin after 4 weeks of treatment.","sentence":"Genotype TT is associated with increased response to simvastatin in people with Hypercholesterolemia as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC8890732","article_title":"Effects of cytochrome P450 2B6 and constitutive androstane receptor genetic variation on Efavirenz plasma concentrations among HIV patients in Kenya","article_path":"articles/PMC8890732.md","variant_annotation_id":1451707340,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":35235559,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Described as 516G>T.","sentence":"Allele T is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4613195","article_title":"Impact of Single Nucleotide Polymorphisms (SNPs) on Immunosuppressive Therapy in Lung Transplantation","article_path":"articles/PMC4613195.md","variant_annotation_id":1448100012,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"mycophenolic acid","pmid":26307985,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Concentrations measured as trough blood drug concentrations. Differences in concentrations were seen in the later time points after transplantation -- 90 and 180 days after transplant.","sentence":"Genotype AG is associated with increased concentrations of mycophenolic acid in people with lung transplantation as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC9373641","article_title":"The effect of alpha-2A adrenergic receptor (ADRA2A) genetic polymorphisms on the depth of sedation of dexmedetomidine: a genetic observational pilot study","article_path":"articles/PMC9373641.md","variant_annotation_id":1451445180,"variant_haplotypes":"rs553668","gene":"ADRA2A","drugs":"dexmedetomidine","pmid":33915198,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of dexmedetomidine in men as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2950972","article_title":"Effects of Opioid Receptor Gene Variation on Targeted Nalmefene Treatment in Heavy Drinkers","article_path":"articles/PMC2950972.md","variant_annotation_id":1449161507,"variant_haplotypes":"rs648893","gene":"OPRM1","drugs":"nalmefene","pmid":18537939,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to nalmefene in people with Alcoholism as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC1974827","article_title":"Influence of the CYP3A5 and MDR1 genetic polymorphisms on the pharmacokinetics of tacrolimus in healthy Korean subjects","article_path":"articles/PMC1974827.md","variant_annotation_id":1184515279,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":17391324,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Healthy subjects with the CYP3A5*1/*1 (TT) or *1/*3 (CT) genotype had significantly lower AUC and Cmax values when compared with subjects with the CYP3A5*3/*3 (CC) genotype.","sentence":"Genotypes CT + TT is associated with increased clearance of tacrolimus in healthy individuals as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376598,"variant_haplotypes":"rs3792452","gene":"GRM7","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele T is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359283,"variant_haplotypes":"rs12666409","gene":"DDC","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of heroin in people with Heroin Dependence as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3992925","article_title":"IL-4 receptor polymorphisms predict reduction in asthma exacerbations during response to an anti\u2013IL-4 receptor \u03b1 antagonist","article_path":"articles/PMC3992925.md","variant_annotation_id":981477269,"variant_haplotypes":"rs1110470","gene":"IL4R","drugs":"pitrakinra","pmid":22541248,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the AA genotype have a reduced frequency of asthma exacerbations compared to those with the AG + GG genotypes.","sentence":"Genotype AA is associated with increased response to pitrakinra in people with Asthma as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5370513","article_title":"Predictive Value of UGT1A1*28 Polymorphism In Irinotecan-based Chemotherapy","article_path":"articles/PMC5370513.md","variant_annotation_id":1448617859,"variant_haplotypes":"rs4148323","gene":"UGT1A1","drugs":"irinotecan","pmid":28367249,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis of studies of Asian subjects with lung cancer (small-cell and non-small cell) from China, Korea, and Japan treated with irinotecan-based chemotherapy.","sentence":"Allele A is not associated with response to irinotecan in people with Lung Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6586010","article_title":"No Clinical Impact of CYP3A5 Gene Polymorphisms on the Pharmacokinetics and/or Efficacy of Maraviroc in Healthy Volunteers and HIV\u20101\u2013Infected Subjects","article_path":"articles/PMC6586010.md","variant_annotation_id":1450371766,"variant_haplotypes":"CYP3A5 intermediate metabolizers","gene":"CYP3A5","drugs":"maraviroc","pmid":30192390,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was no significant difference in average maraviroc plasma concentrations between CYP3A5 intermediate and extensive metabolizers.","sentence":"CYP3A5 intermediate metabolizer is not associated with concentrations of maraviroc in people with HIV Infections as compared to CYP3A5 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC11435314","article_title":"An Investigational Study on the Role of CYP2D6, CYP3A4 and UGTs Genetic Variation on Fesoterodine Pharmacokinetics in Young Healthy Volunteers","article_path":"articles/PMC11435314.md","variant_annotation_id":1452616380,"variant_haplotypes":"CYP2D6 intermediate metabolizer","gene":"CYP2D6","drugs":"fesoterodine","pmid":39338398,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Lastly, Cl/F was significantly higher in the CYP2D6 UMs compared to the NMs and IMs/PMs (puv = 0.008 and puv < 0.001, respectively; \u03b2 = \u22120.131, R2 =0.409, pmv = 0.001) and lower in the CYP2D6 IMs/PMs compared to the NMs (puv = 0.005) (Table 3).\" The 21 SNPs for CYP2D6 measured are listed in table 5 and methods states that \"deletion (*5), duplication, and the presence of hybrid structures were analyzed\".","sentence":"CYP2D6 intermediate metabolizer and poor metabolizer is associated with decreased clearance of fesoterodine in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491537,"variant_haplotypes":"rs12076902","gene":"CAPZA1","drugs":"atenolol","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in diastolic blood pressure (DBP) after 9 weeks of treatment.","sentence":"Allele A is not associated with response to atenolol in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11317398","article_title":"Genetic variability in the glucocorticoid pathway and treatment outcomes in hospitalized patients with COVID-19: a pilot study","article_path":"articles/PMC11317398.md","variant_annotation_id":1452563181,"variant_haplotypes":"rs33388","gene":"NR3C1","drugs":"dexamethasone","pmid":39135792,"phenotype_category":"Efficacy","significance":"yes","notes":"\"the median duration of hospitalization was longer in homozygotes for NR3C1 rs33388 reference allele (12 days) when compared to carriers of one or two polymorphic alleles (both 9 days) (Pdom adj = 0.006).\" Caution this is an A/T snp in a gene on the minus strand and it is unclear about which allele is major allele or risk allele.","sentence":"Genotype AA is associated with increased time to response to dexamethasone in people with COVID-19 as compared to genotypes AT + TT.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"time to response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:COVID-19","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6089815","article_title":"Interaction between ABCG2 421C>A polymorphism and valproate in their effects on steady\u2010state disposition of lamotrigine in adults with epilepsy","article_path":"articles/PMC6089815.md","variant_annotation_id":1449560375,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"lamotrigine","pmid":29791014,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with concentrations of lamotrigine in people with Epilepsy as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2630264","article_title":"The largest prospective warfarin-treated cohort supports genetic forecasting","article_path":"articles/PMC2630264.md","variant_annotation_id":1183701274,"variant_haplotypes":"rs4917639","gene":"CYP2C9","drugs":"warfarin","pmid":18574025,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP explained 12% (P = 4.61 x 10(-30)) of the variation in warfarin dose. The direction of the allele:dose relationship is not given.","sentence":"Allele A is associated with dose of warfarin.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340144,"variant_haplotypes":"rs7294","gene":"VKORC1","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, this variant is associated with 6.9mg/week more warfarin dose requirement compared to wild-type homozygotes.","sentence":"Genotypes CT + TT are associated with increased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6426691","article_title":"Genome-wide association analysis of common genetic variants of resistant hypertension","article_path":"articles/PMC6426691.md","variant_annotation_id":1451099900,"variant_haplotypes":"rs11749255","gene":null,"drugs":"Antihypertensives","pmid":30237584,"phenotype_category":"Efficacy","significance":"no","notes":"The A allele was associated with increased odds of a patient developing resistant-hypertension. Participants were classified as having resistant hypertension if their SBP was \u2265140 or DBP \u2265 90 using three or more medications, or if they were using four or greater antihypertensive medications regardless of BP. This SNP was suggestive in the INVEST and SPS3 cohorts but reached genome-wide significance when the two cohorts were combined. Additionally, this association could not be validated in an eMERGE dataset.","sentence":"Allele A is associated with decreased response to Antihypertensives in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161687,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"methadone","pmid":21589866,"phenotype_category":"Dosage","significance":"no","notes":"No significant difference in methadone dose between genotypes. No details about which specific variants/alleles were tested for.","sentence":"CYP2C19 *1/*2 + *2/*2 are not associated with dose of methadone in people with Opioid-Related Disorders as compared to CYP2C19 *1/*1.","alleles":"*1/*2 + *2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5421731","article_title":"Candidate\u2010Gene Study of Functional Polymorphisms in SLCO1B1 and CYP3A4/5 and the Cholesterol\u2010Lowering Response to Simvastatin","article_path":"articles/PMC5421731.md","variant_annotation_id":1448624746,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"simvastatin","pmid":28482130,"phenotype_category":"Efficacy","significance":"no","notes":"609 self-reported white and 335 self-reported African American men and women with baseline total serum cholesterol level between 160 and 400 mg/dL received 40 mg simvastatin daily for 6 weeks. Clinic visits occurred at 2-week intervals during the 6-week study.","sentence":"CYP3A4 *22 is not associated with response to simvastatin as compared to CYP3A4 *1.","alleles":"*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC11023817","article_title":"Pharmacogenetic Influence on Stereoselective Steady-State Disposition of Bupropion","article_path":"articles/PMC11023817.md","variant_annotation_id":1452415140,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"bupropion","pmid":38467432,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"516T carriers generally had; greater bupropion and lesser hydroxybupropion plasma exposure, compared with non-carriers.\"","sentence":"Allele T is associated with increased exposure to bupropion in people with Depressive Disorder, Major as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2791975","article_title":"A novel polymorphism in ABCB1 gene, CYP2B6*6 and sex predict single-dose efavirenz population pharmacokinetics in Ugandans","article_path":"articles/PMC2791975.md","variant_annotation_id":1452582048,"variant_haplotypes":"rs3842","gene":"ABCB1","drugs":"efavirenz","pmid":19916993,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Efavirenz relative bioavailability was 26% higher in subjects homozygous for ABCB1 (rs3842).\"","sentence":"Genotype CC is associated with increased exposure to efavirenz in healthy individuals as compared to genotype TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3092713","article_title":"Integration of population pharmacokinetics and pharmacogenetics: an aid to optimal nevirapine dose selection in HIV-infected individuals","article_path":"articles/PMC3092713.md","variant_annotation_id":827861835,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"nevirapine","pmid":21441248,"phenotype_category":"Toxicity, Metabolism/PK","significance":"not stated","notes":"\" The impact of 516G\u200a>\u200aT was tested including heterozygous and homozygous subjects, showing that both genotypes influenced CL/F to a significant extent (\u0394OFV\u200a=\u200a\u221227.8). Particularly significant was the effect of the 516TT genotype, which decreased CL/F by 37%. Importantly, there was a gene\u2013dose effect with 516GT decreasing CL/F by 15% compared with the 516GG genotype. \"","sentence":"Genotypes GT + TT is associated with decreased clearance of nevirapine in people with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6969041","article_title":"Impact of CYP2C19 genotype on sertraline exposure in 1200 Scandinavian patients","article_path":"articles/PMC6969041.md","variant_annotation_id":1450933348,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"sertraline","pmid":31649299,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Among CYP2C19 UMs, the mean estimated serum concentration of both sertraline and N-desmethylsertraline was 10% lower compared to NMs (p = 0.012 and p = 0.016, respectively). No significant difference in metabolic ratio between UMs and NMs was observed (p = 0.517). The OR for having =1 TDM measurements below the target concentration range of 30 nM in CYP2C19 UMs was 1.31 (p = 0.098, CI: 0.95\u20131.80) compared to NMs.","sentence":"CYP2C19 *17/*17 (assigned as ultrarapid metabolizer phenotype) is associated with increased metabolism of sertraline as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*17/*17","specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4220988","article_title":"Impact of the Superoxide Dismutase 2 Val16Ala Polymorphism on the Relationship between Valproic Acid Exposure and Elevation of \u03b3-Glutamyltransferase in Patients with Epilepsy: A Population Pharmacokinetic-Pharmacodynamic Analysis","article_path":"articles/PMC4220988.md","variant_annotation_id":1444608478,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"valproic acid","pmid":25372290,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Clearance here refers to apparent oral clearance as assayed by serum concentration of valproic acid (VPA) (micrograms/ml). The authors used NONEM to assess serum concentration of VPA.","sentence":"CYP2C9 *3 is not associated with clearance of valproic acid in people with Epilepsy as compared to CYP2C9 *1.","alleles":"*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5377478","article_title":"A prospective study to assess the association between genotype, phenotype and Prakriti in individuals on phenytoin monotherapy","article_path":"articles/PMC5377478.md","variant_annotation_id":1448612933,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"phenytoin","pmid":28302415,"phenotype_category":"Toxicity","significance":"no","notes":"Concentrations were assessed in relation to toxic concentrations of phenytoin compared to *1/*1.","sentence":"CYP2C19 *1/*2 is not associated with increased concentrations of phenytoin in people with Epilepsy as compared to CYP2C19 *1/*1.","alleles":"*1/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3698861","article_title":"Association of nicotine metabolite ratio and CYP2A6 genotype with smoking cessation treatment in African-American light smokers","article_path":"articles/PMC3698861.md","variant_annotation_id":1451665300,"variant_haplotypes":"CYP2A6*1, CYP2A6*2, CYP2A6*4, CYP2A6*9, CYP2A6*12, CYP2A6*17, CYP2A6*20, CYP2A6*23, CYP2A6*24, CYP2A6*25, CYP2A6*26, CYP2A6*27, CYP2A6*28, CYP2A6*35, CYP2A6*46","gene":"CYP2A6","drugs":"nicotine","pmid":19279561,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note that the *46 allele is described as the *1B1 allele in the paper and has subsequently been reassigned by PharmVar.","sentence":"CYP2A6 *1/*2 + *1/*4 + *1/*9 + *1/*12 + *1/*17 + *1/*20 + *1/*23 + *1/*24 + *1/*25 + *1/*26 + *1/*27 + *1/*28 + *1/*35 + *9/*9 + *17/*17 + *20/*20 + *35/*35 (assigned as intermediate and low activity phenotype) are associated with decreased metabolism of nicotine as compared to CYP2A6 *1/*1 +*1/*46 + *46/*46 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*4 + *1/*9 + *1/*12 + *1/*17 + *1/*20 + *1/*23 + *1/*24 + *1/*25 + *1/*26 + *1/*27 + *1/*28 + *1/*35 + *9/*9 + *17/*17 + *20/*20 + *35/*35","specialty_population":null,"metabolizer_types":"low activity and intermediate activity","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 +*1/*46 + *46/*46","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC10675244","article_title":"A Physiologically Based Pharmacokinetic Approach to Recommend an Individual Dose of Tacrolimus in Adult Heart Transplant Recipients","article_path":"articles/PMC10675244.md","variant_annotation_id":1452309660,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":38004558,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"the apparent clearance was 12.2 \u00b1 6.0 L/h for CYP3A5*3*3, while it was 27.3 \u00b1 11.5 L/h for individuals with at least one CYP3A5*1 allele (p < 0.001). The results are shown in Figure 1.\"","sentence":"CYP3A5 *3/*3 is associated with decreased clearance of tacrolimus in people with heart transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC8438567","article_title":"Effect of Pharmacogenetics Variations on Praziquantel Plasma Concentrations and Schistosomiasis Treatment Outcomes Among Infected School-Aged Children in Tanzania","article_path":"articles/PMC8438567.md","variant_annotation_id":1451499146,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"praziquantel","pmid":34531744,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2C19 *1/*2 + *1/*3 is associated with increased exposure to praziquantel in children with Schistosomiasis as compared to CYP2C19 *1/*1 + *1/*17.","alleles":"*1/*2 + *1/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Schistosomiasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17","comparison_metabolizer_types":null} +{"pmcid":"PMC5800559","article_title":"Pharmacogenomics-guided policy in opioid use disorder (OUD) management: An ethnically-diverse case-based approach","article_path":"articles/PMC5800559.md","variant_annotation_id":1451440360,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"buprenorphine","pmid":29450233,"phenotype_category":"Dosage","significance":"no","notes":"Case study of a patient receiving buprenorphine/naloxone as opioid agonist treatment. Patient experienced withdrawal symptoms when dose was reduced from 28mg/day to 24mg/day, indicating a potential ultrarapid metabolizer phenotype. Authors state \"The patient was determined to exhibit the CYP3A4*1/*1B genotype\"","sentence":"Genotype CT is associated with increased dose of buprenorphine in people with Opioid-Related Disorders.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11401437","article_title":"CFTR modulators response of S737F and T465N CFTR variants on patient-derived rectal organoids","article_path":"articles/PMC11401437.md","variant_annotation_id":1452590200,"variant_haplotypes":"rs186089140","gene":"CFTR","drugs":"elexacaftor / tezacaftor / ivacaftor","pmid":39272186,"phenotype_category":"PD","significance":"no","notes":"\"Functional evaluation of modulator treatment on rectal organoids derived from subjects 1 and 2 carrying the S737F/W1282X and S737F/Dele22-24 genotype\"\"Here, we analyzed two of these subjects for which intestinal organoids were available, and we demonstrated that a trend to respond to ETI treatment was present but appeared prominent only in one of the subjects presenting the lowest residual function, while it was reported as significant in nasal cells.\"\" ETI induced a modest increase in CFTR function, which resulted in more evidence for the case carrying the S737F/Dele22-24 genotype.\"","sentence":"Allele T is associated with increased clinical benefit to elexacaftor / tezacaftor / ivacaftor.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC8822703","article_title":"Relationship of cytochrome P450 gene polymorphisms with blood concentrations of hydroxychloroquine and its metabolites and adverse drug reactions","article_path":"articles/PMC8822703.md","variant_annotation_id":1451697420,"variant_haplotypes":"rs3735451","gene":"CYP3A4","drugs":"hydroxychloroquine","pmid":35135554,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Authors state \"We found that CYP3A4 (rs3735451) was significantly correlated with blood concentration of HCQ and its metabolites by adjusting for the time of administration, and the mean blood concentrations of HCQ, DHCQ, and DCQ in patients with CC, CT, and TT genotypes is higher than those of other genotypes, with the blood concentration of HCQ and its main metabolite DHCQ being the lowest for the CC genotype.\"","sentence":"Genotype CC is associated with decreased concentrations of hydroxychloroquine in people with Arthritis, Rheumatoid or Lupus Erythematosus, Systemic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis, Other:Systemic lupus erythematosus","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2715837","article_title":"G-Protein-Coupled Receptor Kinase 4 Polymorphisms and Blood Pressure Response to Metoprolol Among African Americans: Sex-Specificity and Interactions","article_path":"articles/PMC2715837.md","variant_annotation_id":827864125,"variant_haplotypes":"rs2960306","gene":"GRK4","drugs":"metoprolol","pmid":19119263,"phenotype_category":"Efficacy","significance":"no","notes":"Response was measured by time to reach a mean arterial pressure of < or = 107 mm Hg.","sentence":"Genotype TT is not associated with decreased response to metoprolol in women with hypertensive nephrosclerosis as compared to genotype GG.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:hypertensive nephrosclerosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3567337","article_title":"Genome-wide study of methotrexate clearance replicates SLCO1B1","article_path":"articles/PMC3567337.md","variant_annotation_id":981483686,"variant_haplotypes":"rs11045879","gene":"SLCO1B1","drugs":"methotrexate","pmid":23233662,"phenotype_category":"Efficacy, Toxicity, Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele C is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6409308","article_title":"Genetic Association of Olanzapine Treatment Response in Han Chinese Schizophrenia Patients","article_path":"articles/PMC6409308.md","variant_annotation_id":1451701983,"variant_haplotypes":"rs324026","gene":"DRD3","drugs":"olanzapine","pmid":30886581,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors state \"individuals with C alleles of rs324026 generally experience significantly better efficacy of OLA treatment.\"","sentence":"Allele C is associated with increased clinical benefit to olanzapine in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3872414","article_title":"Polymorphisms of MTHFR Associated with Higher Relapse/Death Ratio and Delayed Weekly MTX Administration in Pediatric Lymphoid Malignancies","article_path":"articles/PMC3872414.md","variant_annotation_id":1451506467,"variant_haplotypes":"rs1801131","gene":"MTHFR","drugs":"methotrexate","pmid":24386571,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the TT genotype had significantly better relapse-free survival. Please note that alleles have been complemented to the positive strand.","sentence":"Genotype TT is associated with decreased response to methotrexate in children with Lymphoma, Non-Hodgkin or Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes GG + GT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Non-Hodgkin Lymphoma, Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC3214266","article_title":"The interactions of age, genetics, and disease severity on tacrolimus dosing requirements after pediatric kidney and liver transplantation","article_path":"articles/PMC3214266.md","variant_annotation_id":1184998180,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":21698374,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"In pediatric liver transplantation recipients, CYP3A5 genotype was not associated with tacrolimus dose, meadian tacrolimus concentration and lower C/D ratios.","sentence":"Genotypes CT + TT are not associated with metabolism of tacrolimus in children with liver transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5440888","article_title":"Lumacaftor/Ivacaftor in Patients Aged 6\u201311 Years with Cystic Fibrosis and Homozygous for F508del-CFTR","article_path":"articles/PMC5440888.md","variant_annotation_id":1449192645,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor, lumacaftor","pmid":27805836,"phenotype_category":"Efficacy","significance":"no","notes":"F508del allele. No significant change in ppFEV1 observed following 24 weeks of lumacaftor treatment.","sentence":"Genotype del/del is not associated with response to ivacaftor and lumacaftor in children with Cystic Fibrosis.","alleles":"del/del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5711571","article_title":"Interaction between the \u03bc-opioid receptor gene and the number of heavy drinking peers on alcohol use","article_path":"articles/PMC5711571.md","variant_annotation_id":1450928634,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":28992386,"phenotype_category":"Other","significance":"no","notes":"No significant main effect of this variant or interaction effect between this variant and social drinking condition on alcohol consumption in a controlled setting or blood alcohol content.","sentence":"Allele G is not associated with dose of ethanol as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3369131","article_title":"A gene variant near ATM is significantly associated with metformin treatment response in type 2 diabetes: a replication and meta-analysis of five cohorts","article_path":"articles/PMC3369131.md","variant_annotation_id":1452581960,"variant_haplotypes":"rs11212617","gene":"C11orf65","drugs":"metformin","pmid":22453232,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele C is associated with increased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6501809","article_title":"Pharmacokinetic-Pharmacodynamic interaction associated with venlafaxine-XR remission in patients with major depressive disorder with history of citalopram / escitalopram treatment failure","article_path":"articles/PMC6501809.md","variant_annotation_id":1451888480,"variant_haplotypes":"CYP2D6 poor metabolizer phenotype","gene":"CYP2D6","drugs":"duloxetine","pmid":30578947,"phenotype_category":"Efficacy","significance":"no","notes":"In patients with no remission to citalopram or escitalopram treatment, duloxetine remission rates were not significantly different between CYP2D6 UM, IM/NM or PM.","sentence":"CYP2D6 poor metabolizer is not associated with response to duloxetine as compared to CYP2D6 normal metabolizer and intermediate metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} +{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715564,"variant_haplotypes":"rs10028494","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Dosage","significance":"no","notes":"There was no significant difference in 24 hour fentanyl use between the genotype groups.","sentence":"Allele A is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703597,"variant_haplotypes":"rs3213619","gene":"ABCB1","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype was not significantly with associated with likelihood of achieving complete molecular response (CMR) within 12 months. CMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; CMR was a ratio <= 0.0032%.","sentence":"Genotype AA is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5354739","article_title":"Pharmacogenetic analysis of high-dose methotrexate treatment in children with osteosarcoma","article_path":"articles/PMC5354739.md","variant_annotation_id":1449188622,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"methotrexate","pmid":27566582,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The T allele is associated with longer half-life of methotrexate.","sentence":"Allele T is associated with decreased metabolism of methotrexate in children with Osteosarcoma as compared to allele G.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC8767566","article_title":"Effect of HIV, antiretrovirals, and genetics on methadone pharmacokinetics: Results from the methadone antiretroviral pharmacokinetics study","article_path":"articles/PMC8767566.md","variant_annotation_id":1451516640,"variant_haplotypes":"rs3003596","gene":"NR1I3","drugs":"(R)-methadone","pmid":34482033,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Being HIV+, taking ART, presence of the rare ABCB1 rs2032582 T allele, and combined presence of the NR1I3 rs2307424 GG and rs3003596 GG genotypes if taking EFV each significantly increased R-methadone CL/F.\"","sentence":"Genotype GG is associated with increased clearance of (R)-methadone in people with HIV Infections.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162841,"variant_haplotypes":"rs3814055","gene":"NR1I2","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":655388254,"variant_haplotypes":"rs4148943","gene":"CHST3","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with data in pgkb, actual base not listed in paper)","sentence":"Allele C is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438784,"variant_haplotypes":"rs11995962","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 5.0E-9.","sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11508189","article_title":"CYP3A4*1B but Not CYP3A5*3 as Determinant of Long-Term Tacrolimus Dose Requirements in Spanish Solid Organ Transplant Patients","article_path":"articles/PMC11508189.md","variant_annotation_id":1452654200,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":39457109,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Transplants included 14 hepatic, 9 renal, 2 cardiac and one pulmonary (from table 1). Alleles complemented. CYP3A5*3/*3 CYP3A4*1/*1 had higher dose adjusted blood concentrations compared to CYP3A5*3/*1 CYP3A4*1/*1B. Concentrations were only measured in 9 patients. CYP3A5*3/*3 is rs776746 CC, there were no *1/*1","sentence":"Genotype CC is associated with increased concentrations of tacrolimus in people with Transplantation as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC8505487","article_title":"Association of TLR 9 gene polymorphisms with remission in patients with rheumatoid arthritis receiving TNF-\u03b1 inhibitors and development of machine learning models","article_path":"articles/PMC8505487.md","variant_annotation_id":1451552300,"variant_haplotypes":"rs352139","gene":"TLR9","drugs":"adalimumab, etanercept, infliximab, Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":34635730,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors report variant as significantly associated with remission, and define remission as \"DAS-28 score of less than 2.6 after 6 months of TNF-\u03b1 inhibitor therapy.\"","sentence":"Genotypes CT + TT is associated with increased response to adalimumab, etanercept, infliximab or Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC10827494","article_title":"An increase in urinary primaquine and a reduction in urinary primaquine-5,6-orthoquinone in the Thai population with CYP2D6 reduced enzyme function","article_path":"articles/PMC10827494.md","variant_annotation_id":1452370684,"variant_haplotypes":"CYP2D6 intermediate metabolizer","gene":"CYP2D6","drugs":"primaquine 5,6-orthoquinone","pmid":38293439,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"For urine data... The normalized total CAE of POQ was significantly lower in CYP2D6 IM than in CYP2D6 NM (115 (46\u2013297) vs. 318 (92\u2013498) \u03bcg/mg/kg, respectively, p = 0.047, Table 3, Fig. 2, Fig. 3B). \" POQ = primaquine 5,6-orthoquinone","sentence":"CYP2D6 intermediate metabolizer is associated with decreased concentrations of primaquine 5,6-orthoquinone in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002465,"variant_haplotypes":"rs1047840","gene":"EXO1","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"not stated","notes":"pfSNP identified 2800 SNPS associated with key-words: 5-FU, capecitabine and oxilaplatin and colorectal cancer. Various criteria were used to determine 1536 SNPs to genotype. These SNPs were genotyped in a discovery cohort (N=62) and tested in a validation cohort (N=27). Both cohorts consisted of patients with colorectal cancer metastasis in liver. Five SNPs (rs2289310 G>T; rs1047840 G>A; rs17431184 T>C; rs17160359 G>T; rs2236722 A>G) were identified as distinguishing the \"non-responder\" phenotype from the \"responder\" phenotype when using a logistic regression multivariate model. The AUC for the receiver operating characteristic curve of the 5 SNPs is 0.875. This logistic-based multivariate model is said to be able to identify 39.1% of non-responders.","sentence":"Allele A is associated with increased response to capecitabine or fluorouracil in people with Neoplasm Metastasis as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5007158","article_title":"Variation in the glucose transporter gene SLC2A2 is associated with glycemic response to metformin","article_path":"articles/PMC5007158.md","variant_annotation_id":1448256681,"variant_haplotypes":"rs8192675","gene":"SLC2A2","drugs":"metformin","pmid":27500523,"phenotype_category":"Efficacy","significance":"yes","notes":"The C allele of rs8192675 was associated with a 0.17% (P = 6.6 \u00d7 10-14) greater metformin-induced reduction in hemoglobin A1c (HbA1c) in 10,577 participants of European ancestry.","sentence":"Allele C is associated with increased response to metformin in people with Diabetes Mellitus as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157271,"variant_haplotypes":"rs2234918","gene":"OPRD1","drugs":"methadone","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.","sentence":"Allele T is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC8917764","article_title":"A single low dose of primaquine is safe and sufficient to reduce transmission of Plasmodium falciparum gametocytes regardless of cytochrome P450 2D6 enzyme activity in Bagamoyo district, Tanzania","article_path":"articles/PMC8917764.md","variant_annotation_id":1451727662,"variant_haplotypes":"CYP2D6 poor metabolizers and intermediate metabolizers","gene":"CYP2D6","drugs":"primaquine","pmid":35279143,"phenotype_category":"Efficacy","significance":"no","notes":"CYP2D6 was assessed using \"mass array VeriDose CYP2D6 CNV Panel\". Authors group PM and IM as \"reduced CYP2D6 activity\" and was 33/157 individuals, 3 individuals were increased activity. \"none of the patients had parasitaemia on day 3\"","sentence":"CYP2D6 poor metabolizers and intermediate metabolizers is not associated with decreased clinical benefit to primaquine in children with Malaria as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Malaria","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166003,"variant_haplotypes":"rs2071421","gene":"ARSA","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele T is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC8530979","article_title":"Pharmacogenetic Predictors of Cannabidiol Response and Tolerability in Treatment\u2010Resistant Epilepsy","article_path":"articles/PMC8530979.md","variant_annotation_id":1451553420,"variant_haplotypes":"rs3749442","gene":"ABCC5","drugs":"cannabidiol","pmid":34464454,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AA + AG are associated with decreased response to cannabidiol in people with Epilepsy as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3931261","article_title":"Novel CYP2A6 variants identified in African Americans are associated with slow nicotine metabolism in vitro and in vivo","article_path":"articles/PMC3931261.md","variant_annotation_id":1183701942,"variant_haplotypes":"rs376817657","gene":"CYP2A6","drugs":"nicotine","pmid":24305170,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Association with lower activity of the novel variant groups [CYP2A6*39 (V68M), CYP2A6*40 (I149M), CYP2A6*41 (R265Q), CYP2A6*42 (I268T), CYP2A6*43 (T303I), CYP2A6*44 (E390K; rs376817657), CYP2A6*44 (L462P)] was; tested using a one-way analysis of variance with Bonferroni tests used for post-hoc analysis, P<0.01. A comparison between CYP2A6*1/*1 and; the combined group was tested using an unpaired t-test, ***P<0.001","sentence":"Genotypes CT + TT is associated with decreased metabolism of nicotine as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003637,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased response to lumefantrine in women with Malaria and Pregnancy as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5887212","article_title":"Cholinergic receptor nicotinic alpha 5 subunit polymorphisms are associated with smoking cessation success in women","article_path":"articles/PMC5887212.md","variant_annotation_id":1450928806,"variant_haplotypes":"rs6474413","gene":"CHRNB3","drugs":"bupropion, nicotine, varenicline","pmid":29621993,"phenotype_category":"Efficacy","significance":"no","notes":"No significant effect of genotype on likelihood of being abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation. Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is not associated with response to bupropion, nicotine or varenicline in people with Tobacco Use Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104844,"variant_haplotypes":"rs6691840","gene":"GRIK3","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele C is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4996314","article_title":"Previously reported PDE3A\u2013SLCO1C1 genetic variant does not correlate with anti-TNF response in a large UK rheumatoid arthritis cohort","article_path":"articles/PMC4996314.md","variant_annotation_id":1448111986,"variant_haplotypes":"rs3794271","gene":"SLCO1C1","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":27180831,"phenotype_category":"Efficacy","significance":"no","notes":"as measured by either EULAR or change in DAS28","sentence":"Allele G is not associated with response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4503165","article_title":"CGRP 4218T/C polymorphism correlated with postoperative analgesic effect of fentanyl","article_path":"articles/PMC4503165.md","variant_annotation_id":1452273540,"variant_haplotypes":"rs145837941","gene":"CALCA","drugs":"fentanyl","pmid":26191294,"phenotype_category":"Dosage","significance":"yes","notes":"\"At the 12th hour and the 24th hour after the surgery, the fentanyl consumption for PCA of the C/C group was significantly higher than the T/T group (P=0.013, 0.004). At the 24th hour after the surgery, the fentanyl consumption for PCA of the C/C group was significantly higher than the T/C group (P=0.021) \" Alleles complemented. Mapped CGRP 4218T/C to rs145837941 in the CALCA gene using PMID:23237777.","sentence":"Genotype GG is associated with increased dose of fentanyl in people with Pain, Postoperative as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC2592852","article_title":"Effect of Concomitant Artesunate Administration and Cytochrome P4502C8 Polymorphisms on the Pharmacokinetics of Amodiaquine in Ghanaian Children with Uncomplicated Malaria","article_path":"articles/PMC2592852.md","variant_annotation_id":827815301,"variant_haplotypes":"rs11572103","gene":"CYP2C8","drugs":"amodiaquine, artesunate","pmid":18779360,"phenotype_category":"Efficacy, Metabolism/PK","significance":"no","notes":"Plasma DEAQ concentrations were slightly but insignificantly lower in subjects with mutant CYP2C8 genotypes than in those with wild-type alleles or heterozygotes. No difference was seen in adverse events or efficacy. NOTE: this gene is on the minus strand, *2 represents T on coding strand and shown here as A on plus strand.","sentence":"Genotype AA is not associated with metabolism of amodiaquine and artesunate in children with Malaria as compared to genotypes AT + TT.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Malaria","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3180021","article_title":"IL28B polymorphisms associated with therapy response in Chilean chronic hepatitis C patients","article_path":"articles/PMC3180021.md","variant_annotation_id":1444705811,"variant_haplotypes":"rs12980275","gene":"IFNL3","drugs":"peginterferon alfa-2a, ribavirin","pmid":21987611,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Genotype AA is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104900,"variant_haplotypes":"rs734784","gene":"KCNS1","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders. Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003506,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Median concentrations of lumefantrine 7 days after beginning treatment with artemether-lumefantrine were not significantly different and no more likely to have median concentrations of lumefantrine >600 ng/ml between genotypes.","sentence":"Allele T is not associated with concentrations of lumefantrine in women with Malaria and Pregnancy as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Other:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC9810307","article_title":"Evaluation of TS and ENOSF1 Variants as a Biomarker in Response to Neoadjuvant Chemotherapy based on 5FU in Gastric Cancer Patients","article_path":"articles/PMC9810307.md","variant_annotation_id":1451909620,"variant_haplotypes":"rs2612091","gene":"ENOSF1","drugs":"fluorouracil","pmid":36172660,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented to plus chromosomal strand. The authors describe the effect as \"Patients with genotype AG did not respond to treatment. \" however in table 3 it shows GG as over represented in the responders.","sentence":"Genotype CC is associated with increased response to fluorouracil in people with Stomach Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC10298263","article_title":"The Distribution of the Genotypes of ABCB1 and CES1 Polymorphisms in Kazakhstani Patients with Atrial Fibrillation Treated with DOAC","article_path":"articles/PMC10298263.md","variant_annotation_id":1452146202,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"dabigatran","pmid":37372371,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with decreased dose-adjusted trough concentrations of dabigatran in people with Atrial Fibrillation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2732914","article_title":"Role of the HPA Axis and the A118G Polymorphism of the \u03bc-Opioid Receptor in Stress-Induced Drinking\u00a0Behavior","article_path":"articles/PMC2732914.md","variant_annotation_id":1450812426,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":19240053,"phenotype_category":"Dosage","significance":"no","notes":"There was no significant difference in alcohol intake, craving or latency to access alcohol between the genotype groups in alcoholic subjects subjected to stress.","sentence":"Genotype AG is not associated with dose of ethanol in people with Alcoholism and Stress as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alcohol abuse, Other:Stress","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451673000,"variant_haplotypes":"rs145308399","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele T is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11049768","article_title":"The influence of COMT and ABCB1 gene polymorphisms on sufentanil analgesic effect for postoperative pain in children with fracture","article_path":"articles/PMC11049768.md","variant_annotation_id":1452460805,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"sufentanil","pmid":38669362,"phenotype_category":"Dosage","significance":"yes","notes":"\"Pediatric patients in the AA group of COMT had higher pain scores and total consumption of sufentanil at awakening, as well as at 2, 6, 12, and 24 hours postoperatively, compared to the AG and GG groups (P\u2005<\u2005.05). There was no statistically significant difference between the AG and GG groups (P\u2005>\u2005.05).\"","sentence":"Genotype AA is associated with increased dose of sufentanil in children with Pain, Postoperative as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC8184575","article_title":"Effect of race and glucuronidation rates on the relationship between nicotine metabolite ratio and nicotine clearance","article_path":"articles/PMC8184575.md","variant_annotation_id":1451700101,"variant_haplotypes":"rs11726322","gene":"UGT2B10","drugs":"nicotine","pmid":33675323,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No effect of the UGT2B10 variant genotypes on the ability of plasma nicotine metabolite ratio to predict nicotine clearance.","sentence":"Allele G is not associated with clearance of nicotine as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC8953705","article_title":"STOP Pain Project\u2014Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways","article_path":"articles/PMC8953705.md","variant_annotation_id":1451732688,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"opioids","pmid":35335997,"phenotype_category":"Dosage","significance":"yes","notes":"no AA homozygotes were observed.","sentence":"Genotype GG is associated with increased dose of opioids in children with Neoplasms and Pain as compared to genotype AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Neoplasms, Other:Pain","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} +{"pmcid":"PMC1978168","article_title":"The Effect of CYP2D6 polymorphisms on the Response to Pain Treatment for Pediatric Sickle Cell Pain Crisis","article_path":"articles/PMC1978168.md","variant_annotation_id":982046925,"variant_haplotypes":"CYP2D6*1, CYP2D6*6","gene":"CYP2D6","drugs":"codeine","pmid":17517247,"phenotype_category":"Efficacy","significance":"yes","notes":"Pediatric patients with severe sickle cell disease who have failed codeine therapy for a pain crisis while taking hydroxyurea were found to be more likely to have a reduced function allele (including *4, *5, *6, *17, *40) as compared to those with mild disease, likely due to a decreased conversion of codeine to morphine. Allele frequencies were not reported. Reduced function alleles were grouped for analysis.","sentence":"CYP2D6 *6 is associated with decreased response to codeine in children with Anemia, Sickle Cell as compared to CYP2D6 *1.","alleles":"*6","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Anemia, Sickle Cell","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC11203291","article_title":"Prognostic Role of Human Leukocyte Antigen Alleles and Cytokine Single-Nucleotide Polymorphisms in Patients with Chronic Myeloid Leukemia Treated with Tyrosine Kinase Inhibitor Drugs","article_path":"articles/PMC11203291.md","variant_annotation_id":1452518160,"variant_haplotypes":"HLA-B*57:03","gene":"HLA-B","drugs":"BCR-ABL tyrosine kinase inhibitors","pmid":38927668,"phenotype_category":"Efficacy","significance":"yes","notes":"\"B*57:03:01 showed a higher frequency of 7.3% in the favorable group compared to the unfavorable group (2.4%) (p = 0.0451).\"","sentence":"HLA-B *57:03 is associated with increased clinical benefit to BCR-ABL tyrosine kinase inhibitors in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive.","alleles":"*57:03","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4828529","article_title":"Influence of genetic polymorphisms in the folate pathway on toxicity after high-dose methotrexate treatment in pediatric osteosarcoma","article_path":"articles/PMC4828529.md","variant_annotation_id":1451547006,"variant_haplotypes":"rs1801131","gene":"C1orf167, CLCN6, MTHFR","drugs":"methotrexate","pmid":27104192,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with concentrations of methotrexate in children with Osteosarcoma as compared to allele T.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC8890732","article_title":"Effects of cytochrome P450 2B6 and constitutive androstane receptor genetic variation on Efavirenz plasma concentrations among HIV patients in Kenya","article_path":"articles/PMC8890732.md","variant_annotation_id":1451707240,"variant_haplotypes":"rs2279345","gene":"CYP2B6","drugs":"efavirenz","pmid":35235559,"phenotype_category":"Metabolism/PK","significance":"no","notes":"this was significant in preliminary analysis but not in the multivariate analysis. Described in tables as 18492C>T.","sentence":"Allele C is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3462355","article_title":"G PROTEIN RECEPTOR KINASE 4 (GRK4) POLYMORPHISMS: BETA-BLOCKER PHARMACOGENETICS AND TREATMENT RELATED OUTCOMES IN HYPERTENSION","article_path":"articles/PMC3462355.md","variant_annotation_id":981345450,"variant_haplotypes":"rs1024323","gene":"GRK4","drugs":"atenolol","pmid":22949529,"phenotype_category":"Efficacy","significance":"yes","notes":"This decrease in response was only significant* when considered as part of a haplotype with rs2960306. The finding was that increasing copies of rs2960306T-rs1024323T haplotype were associated with significantly reduced atenolol-induced diastolic blood pressure lowering (-9.1\u00b16.8 versus -6.8\u00b17.1 versus -5.3\u00b16.4 mm Hg in participants with 0, 1, and 2 copies respectively). Analysis of the SNP alone showed a trend towards decreased response with the T allele. The association of the haplotype was only observed in rs1801253 CC genotypes in Whites.; *= authors state that the data are statistically significant when Bonferroni-corrected for the number of SNPs tested in the analysis but that they do not meet chip-wide Bonferroni-corrected significance.","sentence":"Allele T is associated with decreased response to atenolol in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5461999","article_title":"Lumacaftor/Ivacaftor Treatment of Patients with Cystic Fibrosis Heterozygous for F508del\u2010CFTR","article_path":"articles/PMC5461999.md","variant_annotation_id":1449192520,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor, lumacaftor","pmid":27898234,"phenotype_category":"Efficacy","significance":"no","notes":"F508del allele. All study participants had the F508del allele on one allele and a second that was predicted to not respond to ivacaftor/lumacaftor treatment. Three out of five outcomes did not show a significant improvement following 56 days of ivacaftor/lumacaftor treatment.","sentence":"Genotype CTT/del is not associated with response to ivacaftor and lumacaftor in people with Cystic Fibrosis.","alleles":"CTT/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3461592","article_title":"Effect of the VKORC1 D36Y variant on warfarin dose requirement and pharmacogenetic dose prediction","article_path":"articles/PMC3461592.md","variant_annotation_id":981239887,"variant_haplotypes":"rs61742245","gene":"VKORC1","drugs":"warfarin","pmid":22871975,"phenotype_category":"Dosage","significance":"yes","notes":"In carriers of allele A, the weekly warfarin dose was increased by a median of 43.7 mg (IQR, 40.5-47.2 mg) compared to non-carriers. Median weekly dose overall = 35 mg (interquartile range [IQR], 24.5 to 52.5 mg).; Also, refinement of the IWPC prediction model to include this variant resulted in significantly better model performance.","sentence":"Genotype AC is associated with increased dose of warfarin in people with warfarin maintenance treatment as compared to genotype CC.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:warfarin maintenance treatment","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6714673","article_title":"Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients","article_path":"articles/PMC6714673.md","variant_annotation_id":1449246811,"variant_haplotypes":"rs12714145","gene":"GGCX","drugs":"warfarin","pmid":28049362,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5427244","article_title":"Donor CYP3A5 genotype influences tacrolimus disposition on the first day after paediatric liver transplantation","article_path":"articles/PMC5427244.md","variant_annotation_id":1448568122,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":28044353,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Children whose DONOR liver had the *3/*3 genotype had increased trough concentrations and dose-adjusted trough concentrations as compared to those with the *1/*1 or *1/*3 genotypes.","sentence":"CYP3A5 *3/*3 is associated with decreased metabolism of tacrolimus in children with liver transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC5600689","article_title":"Impact of Single Nucleotide Polymorphisms on Plasma Concentrations of Efavirenz and Lopinavir/ritonavir in Chinese Children Infected with the Human Immunodeficiency Virus","article_path":"articles/PMC5600689.md","variant_annotation_id":1448821824,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"ritonavir","pmid":28718515,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes AA + AG are not associated with concentrations of ritonavir in children with HIV Infections as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5309131","article_title":"Meta-analysis of genome-wide association studies of HDL cholesterol response to statins","article_path":"articles/PMC5309131.md","variant_annotation_id":1448266657,"variant_haplotypes":"rs247616","gene":null,"drugs":"hmg coa reductase inhibitors","pmid":27587472,"phenotype_category":"Efficacy","significance":"yes","notes":"GWAS study.","sentence":"Allele T is associated with increased response to hmg coa reductase inhibitors as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4039203","article_title":"Nifedipine pharmacokinetics are influenced by CYP3A5 genotype when used as a preterm labor tocolytic","article_path":"articles/PMC4039203.md","variant_annotation_id":1183682248,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"nifedipine","pmid":22875663,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Women homozygous or heterozygous for the T allele (CYP3A5 *1/*1 or *1/*3) had increased apparent oral clearance (Cl/F; units = L/h), increased apparent volume of distribution (Vd/F; units = L) and decreased average concentration of nifedipine (Cave; units = ug/L) compared to those homozygous for the C allele (CYP3A5 *3/*3).","sentence":"Genotypes CT + TT are associated with increased clearance of nifedipine in women with Pregnancy as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC9536193","article_title":"Germline Polymorphisms as Biomarkers of Tumor Response in Colorectal Cancer Patients Treated with Anti-EGFR Monoclonal Antibodies: A Systematic Review and Meta-Analysis","article_path":"articles/PMC9536193.md","variant_annotation_id":1449165400,"variant_haplotypes":"rs3025039","gene":"VEGFA","drugs":"cetuximab, panitumumab","pmid":27897268,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis with 3 studies. The authors did not provide the exact number of patients but stated that \"the median number of patients per analysis was 110 (range 50 - 740)\". Most definitions of response were variations of the RECIST criteria.","sentence":"Allele T is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934443,"variant_haplotypes":"rs869312138","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the C allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Leu36Trp in the paper.","sentence":"Allele C is associated with increased response to migalastat in people with Fabry Disease.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11887348","article_title":"CYP2D6 polymorphisms and endoxifen concentration in Chinese patients with breast cancer","article_path":"articles/PMC11887348.md","variant_annotation_id":1452872665,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*10","gene":"CYP2D6","drugs":"endoxifen","pmid":40050768,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The median endoxifen concentration was highest in CYP2D6 genotype *1/*2 (24ng/ml, 95%CI 18\u201327 ng/ml) and *1/*10 (23ng/ml, 95%CI 21\u201331 ng/ml, Fig. 1). Patients with genotype *1/*10 were with higher median endoxifen concentrations when compared with patients with *10/*10 (p\u2009=\u20090.0144) and with *2/*10 (p\u2009=\u20090.0337).\"","sentence":"CYP2D6 *10/*10 + *2/*10 is associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*10.","alleles":"*10/*10 + *2/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*10","comparison_metabolizer_types":null} +{"pmcid":"PMC9468554","article_title":"Impact of the novel CYP2C:TG haplotype and CYP2B6 variants on sertraline exposure in a large patient population","article_path":"articles/PMC9468554.md","variant_annotation_id":1452014728,"variant_haplotypes":"CYP2B6*1, CYP2B6*6, CYP2B6*9","gene":"CYP2B6","drugs":"sertraline","pmid":35668575,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Compared to the reference group, patients homozygous or heterozygous for the CYP2B6*6 or *9 allele had a 25% (n = 40, p = 0.008) and 15% (n = 261, p<0.001) in- creased serum concentration of sertraline, respectively.","sentence":"CYP2B6 *6 + *9 are associated with increased concentrations of sertraline as compared to CYP2B6 *1/*1.","alleles":"*6 + *9","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5427048","article_title":"The Pharmacogenetics of Tacrolimus in Corticosteroid-Sparse Pediatric and Adult Kidney Transplant Recipients","article_path":"articles/PMC5427048.md","variant_annotation_id":1448603912,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":28229376,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A4 *1/*22 is not associated with trough concentration of tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1/*1.","alleles":"*1/*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4043918","article_title":"The impact of age and CYP2C9 and VKORC1 variants on stable warfarin dose in the paediatric population","article_path":"articles/PMC4043918.md","variant_annotation_id":1185235722,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":24601977,"phenotype_category":"Dosage","significance":"yes","notes":"Patients who carried the CYP2C9 *2 or *3 variant alleles required 71% the dose of warfarin as compared to those with the wild-type genotype. CYP2C9 genotype was found to account for 6% of the variability in stable warfarin dose (mg/day).","sentence":"CYP2C9 *1/*2 + *1/*3 + *2/*3 is associated with decreased dose of warfarin in children as compared to CYP2C9 *1/*1.","alleles":"*1/*2 + *1/*3 + *2/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC556232","article_title":"Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin","article_path":"articles/PMC556232.md","variant_annotation_id":613978575,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"phenytoin","pmid":15805193,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with increased dose of phenytoin in people with Epilepsy as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340040,"variant_haplotypes":"CYP2C9*1, CYP2C9*11","gene":"CYP2C9","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, CYP2C9*11 allele is associated with 5.4mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"CYP2C9 *1/*11 is associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*11","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC10852661","article_title":"Effect of APOE and CHRNA7 Genotypes on the Cognitive Response to Cholinesterase Inhibitor Treatment at Different Stages of Alzheimer\u2019s Disease","article_path":"articles/PMC10852661.md","variant_annotation_id":1184747986,"variant_haplotypes":"rs6494223","gene":"CHRNA7","drugs":"donepezil, galantamine, rivastigmine","pmid":24951635,"phenotype_category":"Efficacy","significance":"yes","notes":"In patients with mild Alzheimer's disease only (baseline Mini-Mental State Examination (MMSE) score >= 20); in patients with moderate to severe Alzheimer's (MMSE <20) no significant results were seen (p=0.73). Adjusted for gender, age, baseline MMSE, and presence of the APOE E4 allele. After 6 months of treatment with cholinesterase inhibitors, those with the T allele were more likely to be a responder to treatment, as compared to those without the T allele. A responder was defined as a patient who showed improvement or no deterioration in cognition comparing MMSE scores at baseline with MMSE scores after 6 months. The authors note in the Discussion section that after 24 months of treatment, no significant association was seen.","sentence":"Allele T is associated with increased response to donepezil, galantamine and rivastigmine in people with Alzheimer Disease as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3273458","article_title":"Deciphering the Interleukin 28B Variants That Better Predict Response to Pegylated Interferon-\u03b1 and Ribavirin Therapy in HCV/HIV-1 Coinfected Patients","article_path":"articles/PMC3273458.md","variant_annotation_id":1444705107,"variant_haplotypes":"rs8113007","gene":null,"drugs":"peginterferon alfa-2b, ribavirin","pmid":22328925,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Genotype AA is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C and HIV Infections as compared to genotypes AT + TT.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection, Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":827784973,"variant_haplotypes":"rs8192440","gene":"CRY1","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":"The authors describe this as a nominal association which did not survive correction for multiple testing.","sentence":"Allele G is associated with increased response to lithium in people with Bipolar Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC11717999","article_title":"Influence of ABCB1 polymorphisms on aripiprazole and dehydroaripiprazole plasma concentrations","article_path":"articles/PMC11717999.md","variant_annotation_id":1452808200,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"aripiprazole, dehydroaripiprazole","pmid":39789135,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"Regarding ARI/DHA ratio, significant differences between the different variants were observed in the three SNPs analyzed. Specifically, for C3434T it was obtained an ARI/DHA ratio 37.4% higher for CC (2.35) compared to the TT variant (1.71), for G2677T 93% higher for GG (3.27) vs TT (1.69) and for C1236T 64.2% higher for CC (2.93) vs TT (1.78) (Fig. 1A). Comparing Non-T carriers vs. T carriers variants as a whole, yielded 22.3%, 70.07% and 47.43% more respectively, maintaining statistical significance (Fig. 1B).\" \"For ABCB1, the following variants were analyzed: C3435T (rs1045642), C2677 T/A (rs2032582) and C1236T (rs1128503).\"","sentence":"Genotype GG is associated with increased concentrations of aripiprazole and dehydroaripiprazole as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003545,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Median concentrations of lumefantrine 7 days after beginning treatment with artemether-lumefantrine were not significantly higher in carriers of the C allele as compared to non-carriers.","sentence":"Allele C is associated with increased concentrations of lumefantrine in women with Malaria and Pregnancy as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Other:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC9322346","article_title":"The Impact of CYP2C9*11 Allelic Variant on the Pharmacokinetics of Phenytoin and (S)\u2010Warfarin","article_path":"articles/PMC9322346.md","variant_annotation_id":1451909701,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*11","gene":"CYP2C9","drugs":"hydroxyphenytoin","pmid":35426132,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Effect was for Urinary excretion of p\u2010HPPH (hydroxyphenytoin) in 24\u2010hour urine collection.","sentence":"CYP2C9 *1/*11 + *2/*11 is associated with decreased concentrations of hydroxyphenytoin in healthy individuals as compared to CYP2C9 *1/*1.","alleles":"*1/*11 + *2/*11","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC9925376","article_title":"Effect of CYP2C19 polymorphisms on antidepressant prescription patterns and treatment emergent mania in bipolar disorder","article_path":"articles/PMC9925376.md","variant_annotation_id":1452032900,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"amitriptyline, clomipramine","pmid":36333412,"phenotype_category":"Other","significance":"yes","notes":"Patients with the CYP2C19 ultrarapid metabolizer phenotype (*17/*17) showed higher risk for discontinuation of amitriptyline or clomipramine treatment than extensive metabolizers (*1/*1). Only rs4244285 and rs12248560 were used to define the phenotype.","sentence":"CYP2C19 *17/*17 is associated with increased discontinuation of amitriptyline or clomipramine in people with Bipolar Disorder as compared to CYP2C19 *1/*1.","alleles":"*17/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC7968507","article_title":"ABCB1, CYP2B6, and CYP3A4 Genetic Polymorphisms do not Affect Methadone Maintenance Treatment in HCV-positive Patients","article_path":"articles/PMC7968507.md","variant_annotation_id":1451569080,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methadone","pmid":33410778,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with metabolism of methadone in men with Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104875,"variant_haplotypes":"rs6627221","gene":"GABRA3","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele C is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6995013","article_title":"HSD3B1 genotype identifies glucocorticoid responsiveness in severe asthma","article_path":"articles/PMC6995013.md","variant_annotation_id":1450945340,"variant_haplotypes":"rs1047303","gene":"HSD3B1","drugs":"glucocorticoids","pmid":31932420,"phenotype_category":"Efficacy","significance":"yes","notes":"The adrenal restrictive allele (A) is linked to reduced conversion of DHEA to androgen and poorer-than-usual treatment response and reduced forced expiratory volume, a measure of lung function. In contrast, patients who carried two copies of a \"permissive\" HSD3B1 allele (CC) had increased conversion to androgen and were not associated with reduced lung function in patients with or without daily oral glucocorticoid treatment.","sentence":"Genotypes AA + AC are associated with increased resistance to glucocorticoids in people with Asthma as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC2812115","article_title":"CYP2C9*1B Promoter Polymorphisms, in Linkage with CYP2C19*2, Affect Phenytoin Autoinduction of Clearance and Maintenance Dose","article_path":"articles/PMC2812115.md","variant_annotation_id":769250177,"variant_haplotypes":"rs71486745","gene":"CYP2C9","drugs":"warfarin","pmid":19855097,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"after excluding those patients carrying CYP2C9*2, *3, and VKORC1 variant alleles.","sentence":"Allele del is not associated with dose of warfarin in people with stable INRs in target range of 2-3 as compared to allele GT.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:stable INRs in target range of 2-3","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT","comparison_metabolizer_types":null} +{"pmcid":"PMC10974048","article_title":"Exploring Variability in Rifampicin Plasma Exposure and Development of Anti-Tuberculosis Drug-Induced Liver Injury among Patients with Pulmonary Tuberculosis from the Pharmacogenetic Perspective","article_path":"articles/PMC10974048.md","variant_annotation_id":1452431746,"variant_haplotypes":"rs3732357","gene":"NR1I2","drugs":"rifampin","pmid":38543282,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"However, a relationship was found between one of the NR1I2 gene intronic polymorphisms, i.e., rs3732357, and RIF plasma exposure: the results showed that patients with the GA/AA genotype had lower RIF AUC0\u20136 h in comparison to the GG genotype (p = 0.026).\"","sentence":"Genotypes AA + AG is associated with decreased exposure to rifampin in people with Tuberculosis as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3880259","article_title":"Association of ABCC2 \u221224C>T Polymorphism with High-Dose Methotrexate Plasma Concentrations and Toxicities in Childhood Acute Lymphoblastic Leukemia","article_path":"articles/PMC3880259.md","variant_annotation_id":1184175533,"variant_haplotypes":"rs2274407","gene":"ABCC4","drugs":"methotrexate","pmid":24404132,"phenotype_category":"Metabolism/PK","significance":"no","notes":"All patients received four cycles of high dose MTX (5000mg per square meter of body surface area). 1/10th of the dose was administered over 30 minutes (rapid infusion) and the rest was administered continuously over 24hrs. Leucovorin rescue was administered every 6hrs starting 48 hrs after initiation of MTX infusion.","sentence":"Allele A is not associated with clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele C.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2935997","article_title":"The effects of CYP2D6 and CYP3A activities on the pharmacokinetics of immediate release oxycodone","article_path":"articles/PMC2935997.md","variant_annotation_id":1449003201,"variant_haplotypes":"CYP2D6 poor metabolizer genotype","gene":"CYP2D6","drugs":"noroxymorphone","pmid":20590587,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Cmax and AUC for noroxymorphone were significantly lower in poor metabolizers than in extensive metabolizers.","sentence":"CYP2D6 poor metabolizer is associated with decreased concentrations of noroxymorphone in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163209,"variant_haplotypes":"rs3740066","gene":"ABCC2","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3632552","article_title":"The KCNH2 Genetic Polymorphism (1956, C>T) Is a Novel Biomarker That Is Associated with CCB and \u03b1,\u03b2-ADR Blocker Response in EH Patients in China","article_path":"articles/PMC3632552.md","variant_annotation_id":982009266,"variant_haplotypes":"rs1137617","gene":"KCNH2","drugs":"atenolol, bisoprolol, celiprolol, doxazosin","pmid":23613831,"phenotype_category":"Efficacy","significance":"not stated","notes":"however the analysis solely comparing genotypes is not shown and stats are given for GG genotype x gender or age comparisons.","sentence":"Genotype GG is associated with response to atenolol, bisoprolol, Celiprolol or doxazosin in people with Essential hypertension as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4828529","article_title":"Influence of genetic polymorphisms in the folate pathway on toxicity after high-dose methotrexate treatment in pediatric osteosarcoma","article_path":"articles/PMC4828529.md","variant_annotation_id":1451547020,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"methotrexate","pmid":27104192,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes CT + TT are associated with decreased concentrations of methotrexate in children with Osteosarcoma as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4867099","article_title":"Pharmacogenetics of unboosted atazanavir in HIV-infected individuals in resource-limited settings: a sub-study of the AIDS Clinical Trials Group (ACTG) PEARLS study (NWCS 342)","article_path":"articles/PMC4867099.md","variant_annotation_id":1447947627,"variant_haplotypes":"CYP3A5 deficiency","gene":"CYP3A5","drugs":"atazanavir","pmid":26892777,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes assessed were CYP3A5*3 (rs776746) and CYP3A5*6 (rs10264272), and categorized as expresser and non-expresser. Looked at ratios of metabolites to atazanavir.","sentence":"CYP3A5 deficiency is not associated with concentrations of atazanavir in people with HIV as compared to CYP3A5 non-deficient.","alleles":null,"specialty_population":null,"metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"non-deficient"} +{"pmcid":"PMC11063049","article_title":"Investigation of inherited noncoding genetic variation impacting the pharmacogenomics of childhood acute lymphoblastic leukemia treatment","article_path":"articles/PMC11063049.md","variant_annotation_id":1452465200,"variant_haplotypes":"rs1247117","gene":null,"drugs":"vincristine","pmid":38693155,"phenotype_category":"PD","significance":"not stated","notes":"\"the risk G allele at rs1247117 was also associated with vincristine resistance in primary ALL cells from patients\"","sentence":"Allele G is associated with increased resistance to vincristine as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3890033","article_title":"Association of single nucleotide polymorphisms in MTHFR and ABCG2 with the different efficacy of first-line chemotherapy in metastatic colorectal cancer","article_path":"articles/PMC3890033.md","variant_annotation_id":1184747603,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"antineoplastic agents","pmid":24338217,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the GG genotype receiving a FOLFOX/XELOX regimen (respectively: fluorouracil, leucovorin, oxaliplatin; capecitabine, oxaliplatin) had a decreased response rate, as compared to those with the GT or TT genotype. No significant difference in response rate was seen in patients receiving a FOLFIRI regimen (fluorouracil, leucovorin, irinotecan). No significant differences in progression-free survival were seen for either regimen. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is associated with decreased response to antineoplastic agents in people with Colorectal Neoplasms as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930652,"variant_haplotypes":"rs6495306","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"The G allele was initially associated with an increased likelihood of being a smoker but this lost significance following correction for multiple testing.","sentence":"Allele G is not associated with exposure to nicotine in men as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC9585281","article_title":"Association of ABCC2 polymorphism with clopidogrel response in Chinese patients undergoing percutaneous coronary intervention","article_path":"articles/PMC9585281.md","variant_annotation_id":1451930259,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"clopidogrel","pmid":36278153,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotype CC is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6714673","article_title":"Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients","article_path":"articles/PMC6714673.md","variant_annotation_id":1449192290,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":28049362,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype AC is associated with decreased dose of warfarin as compared to genotype AA.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930602,"variant_haplotypes":"rs6495307","gene":"CHRNA3","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele T is not associated with exposure to nicotine in men as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5505550","article_title":"Efficacy of piroxicam for postoperative pain after lower third molar surgery associated with CYP2C8*3 and CYP2C9","article_path":"articles/PMC5505550.md","variant_annotation_id":1448820072,"variant_haplotypes":"rs11572080","gene":"CYP2C8","drugs":"piroxicam","pmid":28740425,"phenotype_category":"Efficacy","significance":"not stated","notes":"Subjects had at least one impacted lower third molar extracted. Measurements were taken of 1) postoperative mouth opening (millimeters) was measured pre- and post-op on days 2 & 7 2) and swelling measurements due to edema were recorded and 3) subjective measures of pain. None were associated with the genotype.","sentence":"Allele T is not associated with response to piroxicam as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7497238","article_title":"Real\u2010world effectiveness of eliglustat in treatment\u2010na\u00efve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry","article_path":"articles/PMC7497238.md","variant_annotation_id":1451353708,"variant_haplotypes":"CYP2D6 ultrarapid metabolizer","gene":"CYP2D6","drugs":"eliglustat","pmid":32438452,"phenotype_category":"Dosage","significance":"not stated","notes":"Six patients in the study cohort were determined to be CYP2D6 ultrarapid metabolizers, four of whom recorded an eliglustat dose of 84mg three times daily, while the recommended dose for normal and intermediate metabolizers is 84mg twice daily. Note that eliglustat is not approved for use in CYP2D6 ultrarapid metabolizers. The paper does not detail how CYP2D6 phenotypes were determined.","sentence":"CYP2D6 ultrarapid metabolizer is associated with increased dose of eliglustat in people with Gaucher Disease as compared to CYP2D6 intermediate metabolizer and normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Gaucher Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} +{"pmcid":"PMC11507373","article_title":"Analysis of ABCB1 Gene Polymorphisms and Their Impact on Tacrolimus Blood Levels in Kidney Transplant Recipients","article_path":"articles/PMC11507373.md","variant_annotation_id":1452683000,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"tacrolimus","pmid":39456782,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Patients carrying the AA genotype from the ABCB1 2677 group tend to have lower concentrations than those without the AA genotype, as indicated by the lower mean rank (29.67 vs. 8.33) and p-value = 0.005 (Figure 2).\" \"Genotype analysis revealed that the AA genotype of ABCB1 G2677A was significantly associated with Tc levels within the normal range (p = 0.0111; PFDR = 0.0334; 95% C.I. = 0.01\u20130.08).\"","sentence":"Genotype AA is associated with decreased concentrations of tacrolimus in people with Kidney Transplantation as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC11730665","article_title":"Comparative efficacy and safety of sitagliptin or gliclazide combined with metformin in treatment-naive patients with type 2 diabetes: A single-center, prospective, randomized, controlled, noninferiority study with genetic polymorphism analysis","article_path":"articles/PMC11730665.md","variant_annotation_id":1453075985,"variant_haplotypes":"rs6923761","gene":"GLP1R","drugs":"sitagliptin","pmid":39792745,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Regarding GLP1R gene polymorphisms, patients with the rs6923761 AA homozygous genotype in the study group had a median HbA1c improvement of 0.90 (IQR, 0.61\u20131.01), while the control group showed 1.41 (IQR, 1.12\u20131.45; P\u2005=\u2005.010), suggesting reduced glycemic response to sitagliptin.\"","sentence":"Genotype AA is associated with decreased response to sitagliptin in people with Diabetes Mellitus, Type 2.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4454552","article_title":"Effects of the CYP3A4*1B Genetic Polymorphism on the Pharmacokinetics of Tacrolimus in Adult Renal Transplant Recipients: A Meta-Analysis","article_path":"articles/PMC4454552.md","variant_annotation_id":1444842728,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"tacrolimus","pmid":26039043,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Trough concentration/weight-adjusted tacrolimus daily dose ratio (C0/Dose ratio) was significantly higher in rs 2740574 TT genotype (CYP3A4*1/*1) compared to CT and CC genotypes (CYP3A4*1B carriers) at 6 months (WMD 52.588; 95% CI 22.387 ~ 82.789) and 12 months (WMD 62.219; 95% CI 14.218 ~ 110.221) post-transplantation.","sentence":"Allele C is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4057281","article_title":"Characterization of raloxifene glucuronidation. Potential role of UGT1A8 genotype on raloxifene metabolism in vivo","article_path":"articles/PMC4057281.md","variant_annotation_id":1184483370,"variant_haplotypes":"UGT1A8*1a, UGT1A8*2, UGT1A8*3","gene":"UGT1A8","drugs":"raloxifene","pmid":23682072,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Those with the *1/*3 genotype (slow raloxifene metabolizers) had decreased dose-adjusted raloxifene metabolite levels in plasma, as compared to those with the *1/*1 and *1/*2 genotypes (intermediate metabolizers) and the *2/*2 genotype (fast metabolizers). Metabolites included raloxifene-6-glucuronide, raloxifene-4'-glucuronide and total raloxifene-glucuronide. Subjects were either given 30 or 60mg of raloxifene.","sentence":"UGT1A8 *1a/*3 (assigned as poor metabolizer phenotype) is associated with increased metabolism of raloxifene in women as compared to UGT1A8 *1a/*1a + *1a/*2 + *2/*2 (assigned as intermediate metabolizer and normal metabolizer phenotype) .","alleles":"*1a/*3","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1a/*1a + *1a/*2 + *2/*2","comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} +{"pmcid":"PMC5299197","article_title":"Influence of IL-18 and IL-10 Polymorphisms on Tacrolimus Elimination in Chinese Lung Transplant Patients","article_path":"articles/PMC5299197.md","variant_annotation_id":1448603555,"variant_haplotypes":"rs1800872","gene":"IL10","drugs":"tacrolimus","pmid":28246425,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in dose-adjusted trough concentration was seen between patients with the TT genotype and those with the GG + GT genotypes at weeks 1, 2, 3 or 4 post-transplant. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is not associated with dose-adjusted trough concentrations of tacrolimus in people with lung transplantation as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930627,"variant_haplotypes":"rs555018","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"The G allele was initially associated with an increased likelihood of being a smoker but this lost significance following correction for multiple testing.","sentence":"Allele G is not associated with exposure to nicotine in men as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104940,"variant_haplotypes":"rs2230912","gene":"P2RX7","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele G is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4573240","article_title":"Genome-wide association study of warfarin maintenance dose in a Brazilian sample","article_path":"articles/PMC4573240.md","variant_annotation_id":1446533819,"variant_haplotypes":"rs749671","gene":"VKORC1","drugs":"warfarin","pmid":26265036,"phenotype_category":"Dosage","significance":"yes","notes":"The G allele was strongly associated with high warfarin dose (G allele, OR: 20.4 [14.3\u201329.0]; p = 1.08 \u00d7 10-33) in Brazilian patients.","sentence":"Allele G is associated with increased dose of warfarin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4034115","article_title":"Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders","article_path":"articles/PMC4034115.md","variant_annotation_id":1184510516,"variant_haplotypes":"rs4867798","gene":"DRD1","drugs":"methylphenidate","pmid":23856854,"phenotype_category":"Efficacy","significance":"yes","notes":"Positive response defined as Clinical Global Impression-Improvement (CGI-I) rating of 'much improved' or 'very much improved', and decrease in Aberrant Behavior Checklist-Hyperactivity subscale of >25% from baseline. This result was not significant when considering correction for multiple testing (p<0.002). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CT is associated with increased response to methylphenidate in children with Autism Spectrum Disorder as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Autism Spectrum Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5700347","article_title":"Observational Study of Associations between Voriconazole Therapeutic Drug Monitoring, Toxicity, and Outcome in Liver Transplant Patients","article_path":"articles/PMC5700347.md","variant_annotation_id":1449146934,"variant_haplotypes":"CYP2C19 poor metabolizers and intermediate metabolizers","gene":"CYP2C19","drugs":"voriconazole","pmid":28923870,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Poor metabolizers = PMs (n=7); Intermediate metabolizers = IMs (n=24); Extensive metabolizers = EMs (n=30); Ultrarapid metabolizers = UMs (n=14). Patients were liver transplant recipients with known or suspected invasive fungal infections.","sentence":"CYP2C19 poor metabolizers and intermediate metabolizers are associated with increased trough concentration of voriconazole in people with Mycoses as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Mycoses","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5558527","article_title":"A genetic risk score is associated with statin-induced low-density lipoprotein cholesterol lowering","article_path":"articles/PMC5558527.md","variant_annotation_id":1447986196,"variant_haplotypes":"rs2075650","gene":"TOMM40","drugs":"hmg coa reductase inhibitors","pmid":27045730,"phenotype_category":"Efficacy","significance":"yes","notes":"as part of a three SNP genetic risk score with rs2231142 in ABCG2 and rs10455872 in LPA. Associated allele not explicitly stated but methods reference Chasman et al., so used the associated allele from there [PMID:22331829].","sentence":"Allele G is associated with decreased response to hmg coa reductase inhibitors as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5875925","article_title":"Pharmacogenetics of Asthma Controller Treatment","article_path":"articles/PMC5875925.md","variant_annotation_id":1183703293,"variant_haplotypes":"rs739645","gene":"CRHR1","drugs":"fluticasone propionate","pmid":22370858,"phenotype_category":"Efficacy","significance":"yes","notes":"The minor allele is reported to be associated with increased response.","sentence":"Allele G is associated with increased response to fluticasone propionate in people with Asthma as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3940150","article_title":"Underlying genetic structure impacts the association between CYP2B6 polymorphisms and response to efavirenz and nevirapine","article_path":"articles/PMC3940150.md","variant_annotation_id":1448993544,"variant_haplotypes":"rs1042389","gene":"CYP2B6","drugs":"efavirenz, non-nucleoside reverse transcriptase inhibitors","pmid":22951632,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to efavirenz or non-nucleoside reverse transcriptase inhibitors in women with HIV Infections as compared to genotype TT.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183632046,"variant_haplotypes":"rs4815273","gene":null,"drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"yes","notes":"The association was with systolic blood pressure response. Observations: 2.91 mm Hg increased reduction of systolic blood pressure per T allele in PEAR + GERA, 0.39 mm Hg increased reduction of systolic blood pressure per T allele in NORDIL, and 2.34 mm Hg increased reduction of systolic blood pressure per T allele in PEAR + GERA + NORDIL. This association was significant in PEAR + GERA but not in the replication cohort NORDIL nor in the 3 cohort meta-analysis.","sentence":"Allele T is associated with increased response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672720,"variant_haplotypes":"rs1302192284","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele C is associated with decreased metabolism of nicotine as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC11203291","article_title":"Prognostic Role of Human Leukocyte Antigen Alleles and Cytokine Single-Nucleotide Polymorphisms in Patients with Chronic Myeloid Leukemia Treated with Tyrosine Kinase Inhibitor Drugs","article_path":"articles/PMC11203291.md","variant_annotation_id":1452518140,"variant_haplotypes":"HLA-A*23:17","gene":"HLA-A","drugs":"BCR-ABL tyrosine kinase inhibitors","pmid":38927668,"phenotype_category":"Efficacy","significance":"yes","notes":"\"In the treated cohorts, we found less HLA-A*23:17:01 (p-value = 0.0285) in the favorable group compared to the unfavorable group.\" Zero *23:17 were reporteded in the favorable group in Table 4","sentence":"HLA-A *23:17 is associated with decreased clinical benefit to BCR-ABL tyrosine kinase inhibitors in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive.","alleles":"*23:17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5051541","article_title":"Using EHR-Linked Biobank Data to Study Metformin Pharmacogenomics","article_path":"articles/PMC5051541.md","variant_annotation_id":1452725942,"variant_haplotypes":"rs7541245","gene":"PRKAB2","drugs":"metformin","pmid":25991289,"phenotype_category":"Efficacy","significance":"yes","notes":"\"he Locus Zoom plot for PRKAB2 (Supplementary Figure 1) placed rs7541245, the most significant (p=0.0019) SNP, as outside the gene boundaries. 5 SNPs (rs6665580, rs6659191, rs6678588, rs7541245, rs10494243) in high LD within PRKAB2, were found to be significantly associated with a decrease in glycemic response after metformin exposure. In summary, variation in PRKAB2, the gene encoding the beta subunit 2 of adenosine monophosphate-activated protein kinase complex, appears to be associated with decreases in glycemic response after exposure to metformin, with rs7541245 having the strongest SNP association.\" Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. \"For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome.\"","sentence":"Allele A is associated with decreased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2981241","article_title":"Population Pharmacokinetic Modeling of the Association between 63396C\u2192T Pregnane X Receptor Polymorphism and Unboosted Atazanavir Clearance","article_path":"articles/PMC2981241.md","variant_annotation_id":749069601,"variant_haplotypes":"rs2472677","gene":"NR1I2","drugs":"atazanavir","pmid":20921307,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"TT was associated with 17% higher clearance of unboosted atazanavir.","sentence":"Genotype TT is associated with increased metabolism of atazanavir in people with HIV Infections as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238754,"variant_haplotypes":"rs874295","gene":"LRP1B","drugs":"risperidone","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. Please note: reported allele was C, this has been complemented to the plus chromosomal strand. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele G is associated with response to risperidone in people with Schizophrenia.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5316146","article_title":"Evidence for benefit of statins to modify cognitive decline and risk in Alzheimer\u2019s disease","article_path":"articles/PMC5316146.md","variant_annotation_id":1450973900,"variant_haplotypes":"rs429358","gene":"APOE","drugs":"hmg coa reductase inhibitors","pmid":28212683,"phenotype_category":"Efficacy","significance":"yes","notes":"Analysis of 859 subjects with AD (ROS/MAP dataset) and re-analysis of a clinical trial of simvastatin in 171 AD patients (simvastatin trial) found no significant difference in ADAS-cog scores between statin-treated patients and those treated with placebo. However, analysis of separate genotype subgroups found that E4/E4 subjects in the ROS/MAP dataset had significantly better cognitive function over a 10-year follow-up compared to those treated with placebo. Additionally, there was a non-significant trend in the simvastatin trial for subjects with the E4/E4 genotype who were treated with simvastatin to have lower ADAS-cog scores than E4/E4 patients treated with placebo.","sentence":"Genotype CC is associated with increased response to hmg coa reductase inhibitors in people with Alzheimer Disease as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4038142","article_title":"Voriconazole Metabolism, Toxicity, and the Effect of Cytochrome P450 2C19 Genotype","article_path":"articles/PMC4038142.md","variant_annotation_id":1444827994,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"voriconazole","pmid":24403552,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2C19 *2/*2 (assigned as poor metabolizer phenotype) is associated with increased concentrations of voriconazole as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*2/*2","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4682920","article_title":"Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study","article_path":"articles/PMC4682920.md","variant_annotation_id":1447682460,"variant_haplotypes":"rs11322783","gene":"IFNL4","drugs":"boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":26670100,"phenotype_category":"Efficacy","significance":"yes","notes":"This variant is in almost complete LD with rs12979860 (r2=0.94) in caucasians. This variant was significantly associated with SVR to triple therapy including telaprevir or boceprevir in patients with compensated cirrhosis chronically infected with HCV-1.","sentence":"Allele TT is associated with increased response to boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to allele G.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479851,"variant_haplotypes":"rs472660","gene":"CYP3A43","drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5469860","article_title":"Association of Polymorphisms in Pharmacogenetic Candidate Genes with Propofol Susceptibility","article_path":"articles/PMC5469860.md","variant_annotation_id":1449005403,"variant_haplotypes":"rs11503014","gene":"GABRA2","drugs":"propofol","pmid":28611364,"phenotype_category":"Other","significance":"yes","notes":"Patients with the CC genotype had significantly smaller decreases (-9.44% +/-6.94%) in heart rate after propofol anesthesia as compared to patients with the CG or GG genotypes (-12.85% +/- 8.54). Please note: the authors examined 58 SNPs but did not do multiple testing corrections.","sentence":"Genotype CC is associated with decreased response to propofol as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2791975","article_title":"A novel polymorphism in ABCB1 gene, CYP2B6*6 and sex predict single-dose efavirenz population pharmacokinetics in Ugandans","article_path":"articles/PMC2791975.md","variant_annotation_id":1448995884,"variant_haplotypes":"CYP2B6*1, CYP2B6*11","gene":"CYP2B6","drugs":"efavirenz","pmid":19916993,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Subjects homozygous for CYP2B6*11 displayed 20% lower apparent oral clearance as compared to wild type.","sentence":"CYP2B6 *11 is associated with decreased clearance of efavirenz in healthy individuals as compared to CYP2B6 *1/*1.","alleles":"*11","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4105486","article_title":"Dose-Finding and Pharmacokinetic Study to Optimize the Dosing of Irinotecan According to the UGT1A1 Genotype of Patients With Cancer","article_path":"articles/PMC4105486.md","variant_annotation_id":1185235201,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan","pmid":24958824,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in dose-adjusted irinotecan area under the plasma concentration-time curve (AUC) was seen between the two genotype groups.","sentence":"UGT1A1 *1/*28 + *28/*28 is not associated with concentrations of irinotecan in people with Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28 + *28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161540,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*2xN","gene":"CYP2D6","drugs":"methadone","pmid":21589866,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP2D6 ultrarapid metabolizers had significantly higher doses of (R)-, (S)- and (R,S)-methadone compared to those classed as normal metabolizers. No details about which specific variants/alleles were tested for are given and it is not apparent how different genotypes were categorized into metabolizer phenotypes.","sentence":"CYP2D6 *1/*2xN + *2/*2xN (assigned as ultrarapid metabolizer phenotype) are associated with increased concentrations of methadone in people with Opioid-Related Disorders as compared to CYP2D6 normal metabolizer.","alleles":"*1/*2xN + *2/*2xN","specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680819,"variant_haplotypes":"rs1042389","gene":"CYP2B6","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype TT is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501842,"variant_haplotypes":"rs4148386","gene":"ABCC2","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was only significant in the African American patients and not in Caucasian patients. Carbamazepine-10-11 epoxide: carbamazepine ratio was also significantly higher in African American patients with AA+AG vs GG (p=0.049).","sentence":"Genotypes AA + AG are associated with increased clearance of carbamazepine in people with Epilepsy as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10298263","article_title":"The Distribution of the Genotypes of ABCB1 and CES1 Polymorphisms in Kazakhstani Patients with Atrial Fibrillation Treated with DOAC","article_path":"articles/PMC10298263.md","variant_annotation_id":1452146147,"variant_haplotypes":"rs2244613","gene":"CES1","drugs":"dabigatran","pmid":37372371,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with decreased dose-adjusted trough concentrations of dabigatran in people with Atrial Fibrillation as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5412267","article_title":"OPRM1 c.118A>G Polymorphism and Duration of Morphine Treatment Associated with Morphine Doses and Quality-of-Life in Palliative Cancer Pain Settings","article_path":"articles/PMC5412267.md","variant_annotation_id":1448612958,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"morphine","pmid":28346387,"phenotype_category":"Dosage","significance":"yes","notes":"The setting was for palliative care of cancer patients.","sentence":"Genotype AG is associated with increased dose of morphine in people with Neoplasms as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5003027","article_title":"TSPAN5, ERICH3 and selective serotonin reuptake inhibitors in major depressive disorder: pharmacometabolomics-informed pharmacogenomics","article_path":"articles/PMC5003027.md","variant_annotation_id":1447979333,"variant_haplotypes":"rs696692","gene":"ERICH3","drugs":"serotonin","pmid":26903268,"phenotype_category":"Other","significance":"yes","notes":"in patients taking citalopram or escitalopram. Baseline plasma serotonin concentrations before SSRI therapy, as well as changes in serotonin were used as a biomarker for response to SSRIs and GWAS was done w/respect to changes in plasma serotonin concentration. The T allele was associated with higher baseline plasma serotonin concentrations, as well as greater decreases in plasma serotonin concentrations at 4 and 8 weeks after beginning SSRI therapy.","sentence":"Allele T is associated with decreased concentrations of serotonin in people with Depressive Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4672523","article_title":"Contribution of BDNF and DRD2 genetic polymorphisms to continued opioid use in patients receiving methadone treatment for opioid use disorder: an observational study","article_path":"articles/PMC4672523.md","variant_annotation_id":1449164214,"variant_haplotypes":"rs6265","gene":"BDNF","drugs":"methadone","pmid":26437921,"phenotype_category":"Efficacy","significance":"no","notes":"Response to methadone was measured as the number of urine screens which were positive for opioids during methadone treatment.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5342450","article_title":"Pharmacogenomics of platinum-based chemotherapy response in NSCLC: a genotyping study and a pooled analysis","article_path":"articles/PMC5342450.md","variant_annotation_id":1448123553,"variant_haplotypes":"rs25487","gene":"XRCC1","drugs":"Platinum compounds","pmid":27248474,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Patients with GA or GG genotypes of XRCC1 G1196 had better response than AA genotype carriers (Genotyping study: OR = 0.72, 95%CI: 0.53-0.96, P = 0.028; Meta-analysis: OR = 0.74, 95%CI: 0.62-0.89, P = 0.001).\"","sentence":"Genotypes CC + CT are associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3383686","article_title":"Meta-Analysis on Pharmacogenetics of Platinum-Based Chemotherapy in Non Small Cell Lung Cancer (NSCLC) Patients","article_path":"articles/PMC3383686.md","variant_annotation_id":982046488,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"Platinum compounds","pmid":22761669,"phenotype_category":"Efficacy","significance":"no","notes":"Patients with the CC genotype had better response to platinum based chemotherapy than patients with other genotypes.","sentence":"Genotype CC is associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC9610285","article_title":"Polymorphism of Drug Transporters, Rather Than Metabolizing Enzymes, Conditions the Pharmacokinetics of Rasagiline","article_path":"articles/PMC9610285.md","variant_annotation_id":1451928880,"variant_haplotypes":"rs12208357","gene":"SLC22A1","drugs":"rasagiline","pmid":36297437,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"and lower tmax remained significant after Bonferroni. Subjects with the *1/*3 (or rs12208357 C/T) genotype for SLC22A1 showed lower tmax than subjects with the *1/*1 (or rs12208357 C/C) genotype","sentence":"Genotype CT is associated with decreased clearance of rasagiline in healthy individuals as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3522814","article_title":"Pharmacogenetic markers of CYP2B6 associated with efavirenz plasma concentrations in HIV-1 infected Thai adults","article_path":"articles/PMC3522814.md","variant_annotation_id":1448993933,"variant_haplotypes":"rs8192709","gene":"CYP2B6","drugs":"efavirenz","pmid":22471906,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes CT + TT are not associated with concentrations of efavirenz in people with HIV Infections as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC11401437","article_title":"CFTR modulators response of S737F and T465N CFTR variants on patient-derived rectal organoids","article_path":"articles/PMC11401437.md","variant_annotation_id":1452590160,"variant_haplotypes":"rs758900656","gene":"CFTR","drugs":"elexacaftor / tezacaftor / ivacaftor","pmid":39272186,"phenotype_category":"PD","significance":"not stated","notes":"\"We then investigated the response to CFTR modulators of the rare and uncharacterized variant T465N using rectal organoids derived from a CF patient carrying the T465N/Q39X genotype.\"\"Ivacaftor (VX-770) alone could not potentiate the T465N/Q39X-CFTR function as registered in both assays. The use of single correctors such as lumacaftor (VX-809) and tezacaftor (VX-661) also contributed minimally to the channel restoration with no difference in organoid swelling rates or anion secretion.\"\"ETI triple therapy increased CFTR-T465N processing and trafficking significantly, enhancing anion transport and FIS rates in vitro.\"\"the theratyping of the very rare T465N variant present in trans with a null allele in patient-derived organoids predicted potential clinical benefits of ETI treatment for patients with this variant.\"","sentence":"Allele A is associated with increased clinical benefit to elexacaftor / tezacaftor / ivacaftor.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2291379","article_title":"Influence of the CYP2D6*4 polymorphism on dose, switching and discontinuation of antidepressants","article_path":"articles/PMC2291379.md","variant_annotation_id":1183617434,"variant_haplotypes":"CYP2D6*1, CYP2D6*4","gene":"CYP2D6","drugs":"citalopram, escitalopram, fluoxetine, fluvoxamine, paroxetine, sertraline","pmid":18070221,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"(*4*4 vs. *1*1; this SNP was the only SNP assayed and this method could not detect *5.) SSRIs were grouped together for this analysis (32.5 % of patients were taking paroxetine; 13.4% fluvoxamine;11.6% fluoxetine; 7.3% sertraline;4.6% citalopram;0.1% escitalopram. Mean SSRI dose was significantly lower at the 3rd prescription (difference 0.17 DDD) but not significant for the following prescriptions. Genotypes were not in Hardy-Weinberg equilibrium; frequency below is for a larger population that included patients treated with other antidepressants.","sentence":"CYP2D6 *4/*4 is associated with decreased dose of citalopram, escitalopram, fluoxetine, fluvoxamine, paroxetine or sertraline in people with Depression as compared to CYP2D6 *1/*1.","alleles":"*4/*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4375579","article_title":"Thiopurine metabolites variations during co-treatment with aminosalicylates for inflammatory bowel disease: Effect of N-acetyl transferase polymorphisms","article_path":"articles/PMC4375579.md","variant_annotation_id":1447814077,"variant_haplotypes":"NAT1*3, NAT1*4, NAT1*10","gene":"NAT1","drugs":"mesalazine, thioguanine","pmid":25834322,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Genotyping based on two SNPs: rs1057126 (T1088A) and rs15561 (C1095A). Analysis compared slow acetylators versus rapid acetylators.","sentence":"NAT1 *10 is associated with decreased concentrations of mesalazine and thioguanine in children with Colitis, Ulcerative, Crohn Disease and Inflammatory Bowel Diseases as compared to NAT1 *4 + *3.","alleles":"*10","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Ulcerative Colitis, Disease:Crohn Disease, Disease:Inflammatory Bowel Diseases","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"*4 + *3","comparison_metabolizer_types":null} +{"pmcid":"PMC11236688","article_title":"Case report: dose-dependent interaction between dexamethasone and voriconazole in severely ill patients with non-Hodgkin\u2019s lymphoma being treated for invasive pulmonary aspergillosis","article_path":"articles/PMC11236688.md","variant_annotation_id":1452529443,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"voriconazole","pmid":38994198,"phenotype_category":"Metabolism/PK","significance":"no","notes":"in a patient when co-administered with dexamethasone. \"To our knowledge, this is the first report of a dose-dependent interaction between voriconazole and dexamethasone in the patient carrying the CYP2C19*1*2 genotype (IM). \"","sentence":"CYP2C19 *1/*2 (assigned as intermediate metabolizer phenotype) is associated with decreased exposure to voriconazole in men with Lymphoma, Non-Hodgkin.","alleles":"*1/*2","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Non-Hodgkin Lymphoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC8578190","article_title":"Pharmacogenetics of Interaction between Depot Medroxyprogesterone Acetate and Efavirenz, Rifampicin and Isoniazid during Treatment of HIV and Tuberculosis","article_path":"articles/PMC8578190.md","variant_annotation_id":1451931261,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"medroxyprogesterone","pmid":34369424,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant associations between NAT2 acetylator status and any primary pharmacokinetic parameter for medroxyprogesterone acetate. Patients also receiving efavirenz-based ART and rifampicin plus isoniazid for treatment. NAT2 genotypes were categorized based on combinations of rs1801280 (NAT2*5), rs1799930 (NAT2*6), rs1799931 (NAT2*7), and rs1801279 (NAT2*14), as slow if homozygous for the variant allele at any locus (i.e. AA, CC, AA, and AA, respectively), or heterozygous at 2 or more loci; intermediate if heterozygous at a single locus; or extensive if no variant allele at any locus. 5(11%) were NAT2 rapid acetylators, 20(45%) were NAT2 intermediate acetylators, and 19(43%) were NAT2 slow acetylators.","sentence":"NAT2 slow acetylator is not associated with metabolism of medroxyprogesterone in women with HIV Infections and Tuberculosis as compared to NAT2 rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:HIV infectious disease, Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"rapid acetylator"} +{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183634151,"variant_haplotypes":"rs7247267","gene":null,"drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"There was a trend but significance was not attained. Observations: 2.81mm Hg decreased reduction of diastolic blood pressure per T allele in PEAR + GERA, 0.07 mm Hg decreased reduction of diastolic blood pressure per T allele in NORDIL, and 1.40 mm Hg decreased reduction of diastolic blood pressure per T allele in PEAR + GERA + NORDIL.","sentence":"Allele T is associated with decreased response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4271081","article_title":"DPYD Variants as Predictors of 5-fluorouracil Toxicity in Adjuvant Colon Cancer Treatment (NCCTG N0147)","article_path":"articles/PMC4271081.md","variant_annotation_id":1448125884,"variant_haplotypes":"rs67376798","gene":"DPYD","drugs":"fluorouracil","pmid":25381393,"phenotype_category":"Efficacy","significance":"no","notes":"The A allele was not associated with disease-free survival time.","sentence":"Genotype AT is not associated with response to fluorouracil in people with Colonic Neoplasms as compared to genotype TT.","alleles":"AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colonic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4137828","article_title":"Relationship of CYP3A5 genotype and ABCB1 diplotype to tacrolimus disposition in Brazilian kidney transplant patients","article_path":"articles/PMC4137828.md","variant_annotation_id":1184470912,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"tacrolimus","pmid":24528196,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"3 - 12 months post-transplant. In multivariate linear regression analysis, the AAA/AAA haplotype (rs1045642, rs1128503, rs2032582) showed a significant effect on dose-adjusted trough concentrations (C0/D) of tacrolimus (those with the AAA/AAA haplotype have increased C0/D compared to those with non-AAA/AAA haplotypes). In chi-squared analyses, no significant association was seen for trough concentrations or dose. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype AA is associated with decreased clearance of tacrolimus in people with Kidney Transplantation.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4932617","article_title":"Rapid and ultra-rapid metabolizers with CYP2C19*17 polymorphism do not respond to standard therapy with proton pump inhibitors","article_path":"articles/PMC4932617.md","variant_annotation_id":1448125906,"variant_haplotypes":"CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"esomeprazole, pantoprazole","pmid":27419077,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Blood samples were collected to determine plasma concentration at 0, 1, 3, 4, 6, and 24 hours after the dose on the first and last day of administration","sentence":"CYP2C19 *17/*17 is associated with increased clearance of esomeprazole and pantoprazole in healthy individuals as compared to CYP2C19 *2/*3.","alleles":"*17/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":"and","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184756158,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"yes","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\" rs1057910 remained significantly associated with warfarin maintenance dose in the multivariate analysis.","sentence":"Allele A is associated with increased dose of warfarin in people with heart valve replacement as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5051541","article_title":"Using EHR-Linked Biobank Data to Study Metformin Pharmacogenomics","article_path":"articles/PMC5051541.md","variant_annotation_id":1452726008,"variant_haplotypes":"rs2120274","gene":"SLC47A1","drugs":"metformin","pmid":25991289,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. \"For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome.\" Table 2 shows rs2120274 as top SNP for SLC47A1","sentence":"Allele A is associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183634313,"variant_haplotypes":"rs689979","gene":"ERCC6L2","drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"Significance was not attained. Observations: 2.68 mm Hg decreased reduction of systolic blood pressure per T allele in PEAR + GERA, 0.26 mm Hg increased reduction of systolic blood pressure per T allele in NORDIL, and 1.84 mm Hg decreased reduction of systolic blood pressure per T allele in PEAR + GERA + NORDIL.","sentence":"Allele T is not associated with response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10501538","article_title":"Genetic polymorphisms of microsomal epoxide hydrolase and UDP-glucuronosyltransferase (UGT) and its effects on plasma carbamazepine levels and metabolic ratio in persons with epilepsy of South India: A cross-sectional genetic association study","article_path":"articles/PMC10501538.md","variant_annotation_id":1452207200,"variant_haplotypes":"rs7439366","gene":"UGT2B7","drugs":"carbamazepine","pmid":37555408,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"In UGT2B7*2, PWE carrying homozygous mutant genotype (TT) had higher levels when compared with CT (3.09 \u03bcg/mL vs. 2.74 \u03bcg/mL) (conversion of the natural logarithm of plasma CBZ to plasma CBZ level using e^lnplasma CBZ level) and found no statistical significance between the above UGT2B7 genotypes and plasma CBZ levels\"","sentence":"Genotype TT is associated with increased dose-adjusted trough concentrations of carbamazepine in people with Epilepsy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5346034","article_title":"Effect of UGT2B10, UGT2B17, FMO3, and OCT2 Genetic Variation on Nicotine and Cotinine Pharmacokinetics and Smoking in African Americans","article_path":"articles/PMC5346034.md","variant_annotation_id":1448602059,"variant_haplotypes":"rs2942857","gene":"UGT2B10","drugs":"nicotine","pmid":28178031,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This annotation was on rs116294140, but dbSNP has merged these two rs IDs.","sentence":"Genotype CC is not associated with increased exposure to nicotine in people with Tobacco Use Disorder as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC2561120","article_title":"Pharmacogenomic studies of the anticancer and immunosuppressive thiopurines mercaptopurine and azathioprine","article_path":"articles/PMC2561120.md","variant_annotation_id":1448268147,"variant_haplotypes":"rs7270101","gene":"ITPA","drugs":"azathioprine, mercaptopurine","pmid":18662289,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"as measured by higher concentrations of 6-TGNs in RBCs.","sentence":"Genotypes AC + CC is associated with increased metabolism of azathioprine or mercaptopurine in people with Inflammatory Bowel Diseases or Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype AA.","alleles":"AC + CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Inflammatory Bowel Diseases, Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC8081740","article_title":"Effects of NT5C2 germline variants on 6-mecaptopurine metabolism in children with acute lymphoblastic leukemia","article_path":"articles/PMC8081740.md","variant_annotation_id":1451502800,"variant_haplotypes":"rs72846714","gene":"NT5C2","drugs":"mercaptopurine","pmid":33124053,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant is associated with a significant decrease in TGN metabolite levels during 6-MP treatment in Children With Acute Lymphoblastic Leukemia. The study showed that rs72846714 was not located in a regulatory element and instead its association signal was explained by linkage disequilibrium with a proximal functional variant rs12256506 that activated NT5C2 transcription in-cis.","sentence":"Genotypes AA + AG are associated with decreased metabolism of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5901893","article_title":"Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC5901893.md","variant_annotation_id":1450930506,"variant_haplotypes":"rs3784921","gene":"TXNDC11","drugs":"hydrochlorothiazide","pmid":29650764,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of hydrochlorothiazide in people with Hypertension as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5391214","article_title":"Association of genetic variations with pharmacokinetics and lipid-lowering response to atorvastatin in healthy Korean subjects","article_path":"articles/PMC5391214.md","variant_annotation_id":1451352842,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*15","gene":"SLCO1B1","drugs":"atorvastatin","pmid":28435225,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Note *17 was listed in the original publication. *17 was merged with *15 due to PharmVar 2021 update.","sentence":"SLCO1B1 *15 is associated with increased concentrations of atorvastatin in healthy individuals as compared to SLCO1B1 *1/*1.","alleles":"*15","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4469933","article_title":"Association between opioid receptor mu 1 (OPRM1) gene polymorphisms and tobacco and alcohol consumption in a Spanish population","article_path":"articles/PMC4469933.md","variant_annotation_id":1450822133,"variant_haplotypes":"rs10485057","gene":"OPRM1","drugs":"ethanol","pmid":26042510,"phenotype_category":"Dosage","significance":"yes","notes":"Subjects with the AA genotype has a significantly increased pure alcohol intake and were significantly more likely to be alcohol consumers compared to subjects with the AG genotype.","sentence":"Genotype AA is associated with increased dose of ethanol as compared to genotype AG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491496,"variant_haplotypes":"rs2932538","gene":"MOV10","drugs":"atenolol","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in systolic blood pressure (SBP) and diastolic blood pressure (DBP) after 9 weeks of treatment. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with response to atenolol in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC9537548","article_title":"A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients","article_path":"articles/PMC9537548.md","variant_annotation_id":1451919893,"variant_haplotypes":"rs558364281","gene":"GRID2","drugs":"6-hydroxy r-warfarin, 6-hydroxy s-warfarin","pmid":36210801,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"measured as increased RS-6OH-warfarin and using a genome wide significance threshold of < 3.846 \u00d7 10\u22129.","sentence":"Allele G is associated with increased concentrations of 6-hydroxy r-warfarin and 6-hydroxy s-warfarin in people with Atrial Fibrillation, venous thromboembolism or Heart Valve Diseases as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation, Other:Venous thromboembolism, Other:Heart Valve Diseases","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC10825484","article_title":"The atorvastatin metabolite pattern in muscle tissue and blood plasma is associated with statin muscle side effects in patients with coronary heart disease; An exploratory case-control study","article_path":"articles/PMC10825484.md","variant_annotation_id":1452373060,"variant_haplotypes":"rs887829","gene":"UGT1A1","drugs":"2-hydroxyatorvastatin lactone, 4-hydroxyatorvastatin lactone, atorvastatin lactone","pmid":38293288,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Comparison was for \"UGT1A1 CC and UGT1A3 no *2 allele\" vs \"UGT1A1 CT or TT and/or UGT1A3 one or two *2 alleles\" and sum of lactones in plasma or muscle. (Supplementary 2-Table 2. )","sentence":"Genotype CC is associated with decreased concentrations of 2-hydroxyatorvastatin lactone, 4-hydroxyatorvastatin lactone and atorvastatin lactone in people with Coronary Disease as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2935997","article_title":"The effects of CYP2D6 and CYP3A activities on the pharmacokinetics of immediate release oxycodone","article_path":"articles/PMC2935997.md","variant_annotation_id":1449003217,"variant_haplotypes":"CYP2D6 ultrarapid metabolizer genotype","gene":"CYP2D6","drugs":"noroxycodone","pmid":20590587,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"AUC for noroxycodone was significantly lower in poor metabolizers than in extensive metabolizers. However, differences in Cmax between the two metabolizer genotypes failed to reach significance.","sentence":"CYP2D6 ultrarapid metabolizer is associated with decreased exposure to noroxycodone in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3611944","article_title":"Pharmacogenetic association with early response to intravitreal ranibizumab for age-related macular degeneration in a Korean population","article_path":"articles/PMC3611944.md","variant_annotation_id":1183682059,"variant_haplotypes":"rs2071559","gene":"KDR","drugs":"ranibizumab","pmid":23559864,"phenotype_category":"Efficacy","significance":"no","notes":"Age-related macular degeneration. No significant differences in best-corrected visual acuity (BCVA) changes or central subfield macular thickness (CSMT) changes were seen between baseline and 3 or 6 months of treatment between any of the genotypes.","sentence":"Allele A is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5298566","article_title":"Potential of a Pharmacogenetic-Guided Algorithm to Predict Optimal Warfarin Dosing in a High-Risk Hispanic Patient: Role of a Novel NQO1*2 Polymorphism","article_path":"articles/PMC5298566.md","variant_annotation_id":1448604092,"variant_haplotypes":"rs1800566","gene":"NQO1","drugs":"warfarin","pmid":28210634,"phenotype_category":"Efficacy","significance":"not stated","notes":"Case study of one woman who developed deep abdominal vein thrombosis secondary to the use of contraceptives.","sentence":"Allele A is associated with decreased response to warfarin in women with Thrombosis as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Thrombotic disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5324942","article_title":"The effect of CYP2C9 and VKORC1 genetic polymorphisms on warfarin dose requirements in a pediatric population","article_path":"articles/PMC5324942.md","variant_annotation_id":1448104687,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":27182616,"phenotype_category":"Dosage","significance":"yes","notes":"The average daily warfarin dose required for maintenance therapy in patients with T allele was 4.26\u00b11.24, whereas it was 4.80\u00b11.55in those without this mutation.","sentence":"Allele T is associated with decreased dose of warfarin in children as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3940150","article_title":"Underlying genetic structure impacts the association between CYP2B6 polymorphisms and response to efavirenz and nevirapine","article_path":"articles/PMC3940150.md","variant_annotation_id":1448993538,"variant_haplotypes":"rs34097093","gene":"CYP2B6","drugs":"efavirenz, non-nucleoside reverse transcriptase inhibitors","pmid":22951632,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to efavirenz or non-nucleoside reverse transcriptase inhibitors in women with HIV Infections as compared to genotype TT.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6586010","article_title":"No Clinical Impact of CYP3A5 Gene Polymorphisms on the Pharmacokinetics and/or Efficacy of Maraviroc in Healthy Volunteers and HIV\u20101\u2013Infected Subjects","article_path":"articles/PMC6586010.md","variant_annotation_id":1450371773,"variant_haplotypes":"CYP3A5 poor metabolizers","gene":"CYP3A5","drugs":"maraviroc","pmid":30192390,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was no significant difference in average maraviroc plasma concentrations between CYP3A5 intermediate and poor metabolizers.","sentence":"CYP3A5 poor metabolizer is not associated with concentrations of maraviroc in people with HIV Infections as compared to CYP3A5 intermediate metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer"} +{"pmcid":"PMC4982581","article_title":"Pharmacokinetic profiles of significant adverse events with crizotinib in Japanese patients with ABCB1 polymorphism","article_path":"articles/PMC4982581.md","variant_annotation_id":1450989140,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"crizotinib","pmid":27270784,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was only one individual who was AA at all three locations that define *2 (rs1128503, rs2032582 and rs1045642). Individuals who were AA at one location (n=3) also had slightly increased exposure compared to \"wild type or heterozygotes\" (n=4). Increased exposure was significantly associated with toxicity. (alleles complemented to plus chromosomal strand)","sentence":"Genotype AA is associated with increased exposure to crizotinib in people with.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672700,"variant_haplotypes":"rs61605570","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is associated with decreased metabolism of nicotine as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271245,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"no","notes":"Response defined by changes in the rate of dropout from treatment between genotypes.","sentence":"Genotypes AA + AG is not associated with response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to genotype AA.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC1769026","article_title":"Comparison of the effect of enalapril and losartan in conjunction with surgical coronary revascularisation versus revascularisation alone on systemic endothelial function","article_path":"articles/PMC1769026.md","variant_annotation_id":982043371,"variant_haplotypes":"rs1799752","gene":"ACE","drugs":"enalapril, losartan","pmid":16020596,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the ATA.../ATA... genotype had greater percent improvement in brachial artery flow mediated dilation (FMD; a way to analyze endothelial function) after enalapril or losartan treatment for 5 months, as compared to those with the remaining genotypes. Please note that patients underwent coronary artery bypass graft surgery 2 months into treatment with these drugs.","sentence":"Genotype ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC is associated with increased response to enalapril and losartan in men with Coronary Disease as compared to genotypes ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del + del/del.","alleles":"ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in men with","population_phenotypes_or_diseases":"Disease:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del + del/del","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166032,"variant_haplotypes":"rs3810818","gene":"CORO7","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele A is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678164,"variant_haplotypes":"rs3812718","gene":"SCN1A","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors evaluated daily dose and maintenance dose and calculated the means for each genotype. The TT genotype is associated with a higher mean daily dose and higher mean maintenance dose of carbamazepine (CBZ). Mean CBZ daily dose (mg/day) for the TT genotype was 694 vs. 509-531 for the CT and CC genotypes, respectively. Mean CBZ maintenance dose for the TT genotype was 10.48 versus 7.79-7.96 for the CC and CT genotypes, respectively. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype TT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC6493603","article_title":"Effects of SCN1A and GABA Receptor Genetic Polymorphisms on Carbamazepine Tolerability and Efficacy in Chinese Patients with Partial Seizures: 2\u2010Year Longitudinal Clinical Follow\u2010Up","article_path":"articles/PMC6493603.md","variant_annotation_id":982023314,"variant_haplotypes":"rs2298771","gene":"SCN1A","drugs":"carbamazepine","pmid":22591328,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the TT genotype were more likely to have a \"good\" response to carbamazepine. A \"good\" response was classified as seizure free over 24 months of treatment. A \"bad\" response was classified as anything other than seizure free. This significant result was only seen for months 3-15 of treatment. No significant result was seen for months 15-24 months of treatment. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is associated with increased response to carbamazepine in people with Epilepsy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4995153","article_title":"The effect of genetic variation in PCSK9 on the LDL-cholesterol response to statin therapy","article_path":"articles/PMC4995153.md","variant_annotation_id":1447947045,"variant_haplotypes":"rs11591147","gene":"PCSK9","drugs":"hmg coa reductase inhibitors","pmid":26902539,"phenotype_category":"Efficacy","significance":"yes","notes":"There was a 55.6% greater reduction in low-density lipoprotein cholesterol (LDL-C) in carriers of the T alleles as compared to those with the GG genotype. Note that carriers of the T allele were also associated with significantly decreased LDL-C levels at baseline (p=0.00022), though the result for response to statins was adjusted for this association. A p-value <0.0045 was considered statistically significant. The authors do not specify the composition of T allele carriers (i.e. heterozygotes, homozygotes, or both).","sentence":"Allele T is associated with increased response to hmg coa reductase inhibitors in people with Hypercholesterolemia as compared to genotype GG.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11158672","article_title":"Influence of ABCB1 and ABCG2 polymorphisms on doxorubicin disposition in Asian breast cancer patients","article_path":"articles/PMC11158672.md","variant_annotation_id":769250961,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"doxorubicin","pmid":18377430,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Significance given for the haplotype of ABCB1 c.1236C>T, c.2677G>A/T, and c.3435C>T (rs1128503, rs2032582 and rs1045642) which was associated with increased drug exposure and reduced clearance. Patients harboring the CC-GG-CC genotypes had significantly lower peak plasma concentrations of doxorubicinol compared to patients who had TT-TT-TT genotypes (P = 0.03).","sentence":"Genotype AA is associated with decreased metabolism of doxorubicin in people with Breast Neoplasms as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC7870766","article_title":"Brain/blood ratios of methadone and ABCB1 polymorphisms in methadone-related deaths","article_path":"articles/PMC7870766.md","variant_annotation_id":1451401904,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"methadone","pmid":33454797,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association between this variant and medulla/blood concentration ratios of methadone. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with concentrations of methadone as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11720188","article_title":"Effect of Genetic Variants on Rosuvastatin Pharmacokinetics in Healthy Volunteers: Involvement of ABCG2, SLCO1B1 and NAT2","article_path":"articles/PMC11720188.md","variant_annotation_id":1452808320,"variant_haplotypes":"ABCG2 poor metabolizer","gene":"ABCG2","drugs":"rosuvastatin","pmid":39796117,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"A significant increase was observed in AUC\u221e/DW(803.58\u00b1256.17h*ng*kg/mL*mg, p<0.001; pmv<0.001,\u03b2=0.467,R2=0.264),AUC72h/DW(766.54\u00b1289.52h*ng*kg/mL*mg, p<0.001;pmv<0.001,\u03b2=0.449,R2=0.302)andCmax/DW(76.98\u00b131.87ng*kg/mL*mg, p<0.001; pmv<0.001,\u03b2=0.480,R2=0.292) in decreased function(DF)+poor function(PF) volunteers forABCG2 transporter in comparison to normal function(NF) volunteers(Table3).\" Authors reference CPIc and Dutch guidelines but do not specify which variants were measured in ABCG2.","sentence":"ABCG2 poor metabolizer and reduced metabolizers is associated with increased dose-adjusted trough concentrations of rosuvastatin in healthy individuals as compared to ABCG2 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer and reduced metabolizers","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4278770","article_title":"Oxidative Stress-Related Genetic Polymorphisms Are Associated with the Prognosis of Metastatic Gastric Cancer Patients Treated with Epirubicin, Oxaliplatin and 5-Fluorouracil Combination Chemotherapy","article_path":"articles/PMC4278770.md","variant_annotation_id":1444694848,"variant_haplotypes":"rs10517","gene":"NQO1","drugs":"epirubicin, fluorouracil, oxaliplatin","pmid":25545243,"phenotype_category":"Efficacy","significance":"not stated","notes":"Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele G is not associated with response to epirubicin, fluorouracil and oxaliplatin in people with Neoplasm Metastasis and Stomach Neoplasms.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438084,"variant_haplotypes":"rs9305223","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 5E-9. This variant was in strong linkage disequilibrium with rs4816969 and rs2226443.","sentence":"Allele G is not associated with clearance of tenofovir in people with HIV Infections as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359593,"variant_haplotypes":"rs5320","gene":"DBH","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of methadone in people with Heroin Dependence as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4445755","article_title":"Genetic variants in combination with early partial improvement as a clinical utility predictor of treatment outcome in major depressive disorder: the result of two pooled RCTs","article_path":"articles/PMC4445755.md","variant_annotation_id":1452046220,"variant_haplotypes":"SLC6A4 L allele-rs25531C, SLC6A4 L allele-rs25531T","gene":"SLC6A4","drugs":"milnacipran","pmid":25710119,"phenotype_category":"Efficacy","significance":"no","notes":"The 5-HTTLPR + rs25531 was not associated with significant differences in HAMD score change at week 6 in patients receiving milnacipran. LA allele vs S/S (S=LG)","sentence":"SLC6A4 L allele-rs25531T is not associated with response to milnacipran in people with Depressive Disorder, Major as compared to SLC6A4 L allele-rs25531C/L allele-rs25531C.","alleles":"L allele-rs25531T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"L allele-rs25531C/L allele-rs25531C","comparison_metabolizer_types":null} +{"pmcid":"PMC11111788","article_title":"CYP2C19 and CYP2J2 genotypes predict praziquantel plasma exposure among Ethiopian school-aged children","article_path":"articles/PMC11111788.md","variant_annotation_id":1452484760,"variant_haplotypes":"rs890293","gene":"CYP2J2","drugs":"trans 4-hydroxypraziquantel","pmid":38778126,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"Our study also found a borderline association between CYP2J2 genotype (p\u2009=\u20090.05) and PZQ plasma concentration, where higher PZQ plasma concentrations were observed among CYP2J2 *1/*1 genotypes compared to CYP2J2 *7 carriers. CYP2J2 genotype was significantly associated with both trans-4-OH-PZQ/PZQ and cis 4-OH-PZQ/PZQ) the metabolic ratios, being higher among CYP2J2 *7 carriers than the wild type (CYP2J2 *1/*1). The CYP2J2 *7 variant allele is reported to be associated with increased enzyme activity, which is in line with our findings.\" *7 mapped to rs890293A.","sentence":"Genotypes AA + AC is associated with increased concentrations of trans 4-hydroxypraziquantel in children with Schistosomiasis as compared to genotype CC.","alleles":"AA + AC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Schistosomiasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC10377184","article_title":"DRD2, DRD3, and HTR2A Single-Nucleotide Polymorphisms Involvement in High Treatment Resistance to Atypical Antipsychotic Drugs","article_path":"articles/PMC10377184.md","variant_annotation_id":1452198683,"variant_haplotypes":"rs6280","gene":"DRD3","drugs":"antipsychotics","pmid":37509727,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The DRD3 rs6280 C|T vs. C|C genotype (OR = 22.195; B = 3.1; p = 0.002) and the T|T vs C|C genotype (OR = 18.47; B = 2.916; p = 0.003) significantly predicted the HTR group membership. In addition, the DRD3 rs6280 C|C vs. T|T genotype inversely predicted the HTR group membership (OR = 0.054; B = \u22122.916; p = 0.003).\" \" high treatment resistance (HTR) group (current treatment with two SGAs, or clozapine, or classic neuroleptics for a failure of previous SGAs trials\"","sentence":"Genotypes CT + TT is associated with increased resistance to antipsychotics in people with Mood Disorders or Schizophrenia as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Mood Disorder, Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479778,"variant_haplotypes":"rs1492899","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171074,"variant_haplotypes":"rs4803419","gene":"CYP2B6","drugs":"methadone","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with concentrations of methadone as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4137828","article_title":"Relationship of CYP3A5 genotype and ABCB1 diplotype to tacrolimus disposition in Brazilian kidney transplant patients","article_path":"articles/PMC4137828.md","variant_annotation_id":1184470893,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":24528196,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"3 - 12 months post-transplant. Patients with the *3/*3 genotype had statistically significantly increased trough concentrations (using chi-squared analysis) and dose-adjusted trough concentrations (using multivariate linear regression) of tacrolimus as compared to patients with the *1/*1 or *1/*3 genotype.","sentence":"CYP3A5 *3/*3 is associated with decreased metabolism of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC3622803","article_title":"Genetic Variation in BDNF is Associated with Antipsychotic Treatment Resistance in Patients with Schizophrenia","article_path":"articles/PMC3622803.md","variant_annotation_id":1183697770,"variant_haplotypes":"rs11030104","gene":"BDNF","drugs":"antipsychotics","pmid":23433505,"phenotype_category":"Efficacy","significance":"yes","notes":"The G allele is associated with increased odds of resistance to antipsychotic treatment. Resistance was assessed by whether patients were taking clozapine, since clozapine is indicated for patients poorly responsive or resistant to first-line treatments. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AG + GG is associated with increased resistance to antipsychotics in people with Schizophrenia as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452437107,"variant_haplotypes":"rs10032941","gene":"C1QTNF7","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 6E-7.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4931969","article_title":"Childhood asthma exacerbations and the Arg-16 beta2 receptor polymorphism: a meta-analysis stratified by treatment","article_path":"articles/PMC4931969.md","variant_annotation_id":1447680645,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"corticosteroids, Leukotriene receptor antagonists","pmid":26774659,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to corticosteroids and Leukotriene receptor antagonists in children with Asthma as compared to genotype GG.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4265416","article_title":"Haplotypes of P2RX7 gene polymorphisms are associated with both cold pain sensitivity and analgesic effect of fentanyl","article_path":"articles/PMC4265416.md","variant_annotation_id":1450821451,"variant_haplotypes":"rs1718125","gene":"P2RX7","drugs":"fentanyl","pmid":25472448,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and 24-h postoperative fentanyl use or perioperative fentanyl use. Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11059713","article_title":"Therapeutic efficacy of generic artemether\u2013lumefantrine in the treatment of uncomplicated malaria in Ghana: assessing anti-malarial efficacy amidst pharmacogenetic variations","article_path":"articles/PMC11059713.md","variant_annotation_id":1452466260,"variant_haplotypes":"CYP2B6*1, CYP2B6*6, CYP2B6*18","gene":"CYP2B6","drugs":"desbutyl lumefantrine, lumefantrine","pmid":38685044,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"Plasma lumefantrine and DBL in relation to CYP2B6 is shown in Fig. 4. No significant difference was observed between normal expressor (*1/*1) and reduced expressors. However, it was observed that the median plasma concentration for normal expressor *1/*1 was relatively higher for day 7 plasma lumefantrine and desbutyl lumefantrine in comparison to reduced expressors.\"","sentence":"CYP2B6 *1/*18 + *1/*6 + *6/*6 + *18/*18 is not associated with decreased concentrations of desbutyl lumefantrine or lumefantrine in people with Malaria, Falciparum as compared to CYP2B6 *1/*1.","alleles":"*1/*18 + *1/*6 + *6/*6 + *18/*18","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Malaria, Falciparum","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5808057","article_title":"No major role of norepinephrine transporter gene variations in the cardiostimulant effects of MDMA","article_path":"articles/PMC5808057.md","variant_annotation_id":1449160191,"variant_haplotypes":"rs168924","gene":"SLC6A2","drugs":"3,4-methylenedioxymethamphetamine","pmid":29198060,"phenotype_category":"Other","significance":"no","notes":null,"sentence":"Allele G is not associated with response to 3,4-methylenedioxymethamphetamine as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":655388213,"variant_haplotypes":"rs1883322","gene":"PPARD","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with dbSNP, actual base not listed in paper, dbSNP changed designation of this allele from G/A to C/T at build 132)","sentence":"Allele C is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4271081","article_title":"DPYD Variants as Predictors of 5-fluorouracil Toxicity in Adjuvant Colon Cancer Treatment (NCCTG N0147)","article_path":"articles/PMC4271081.md","variant_annotation_id":1450951310,"variant_haplotypes":"rs3918290","gene":"DPYD","drugs":"fluorouracil","pmid":25381393,"phenotype_category":"Efficacy","significance":"no","notes":"The T allele was not associated with disease-free survival time. Allele referred to in the paper as the DPYD*2A allele.","sentence":"Genotype CT is not associated with response to fluorouracil in people with Colonic Neoplasms as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colonic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4706412","article_title":"A Novel Admixture-Based Pharmacogenetic Approach to Refine Warfarin Dosing in Caribbean Hispanics","article_path":"articles/PMC4706412.md","variant_annotation_id":1447682700,"variant_haplotypes":"CYP4F2*1, CYP4F2*3","gene":"CYP4F2","drugs":"warfarin","pmid":26745506,"phenotype_category":"Dosage","significance":"yes","notes":"The authors aimed to develop an admixture-adjusted (genetic ancestry) PGx dosing algorithm for warfarin in Caribbean Hispanics from Puerto Rico. [Algorithm R sq.=0.70, MAE = 0.72 mg/day]. When externally validated with 55 individuals from an independent cohort the novel algorithm predicted 58% of the warfarin dose variance [MAE = 0.89 mg/day, 24% mean bias]. Please note: the derivation cohort was 99% male.","sentence":"CYP4F2 *3 is associated with increased dose of warfarin as compared to CYP4F2 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3148255","article_title":"Effect of VX-770 in Persons with Cystic Fibrosis and the G551D-CFTR Mutation","article_path":"articles/PMC3148255.md","variant_annotation_id":981755665,"variant_haplotypes":"rs75527207","gene":"CFTR","drugs":"ivacaftor","pmid":21083385,"phenotype_category":"Efficacy","significance":"not stated","notes":"Clinical trials were carried out to test efficacy of ivacaftor selecting only patients with the CFTR G551D mutation on at least one allele (genotype AA or AG).","sentence":"Genotypes AA + AG are associated with response to ivacaftor in people with Cystic Fibrosis.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11528939","article_title":"Unidentified CYP2D6 genotype does not affect pharmacological treatment for patients with first episode psychosis","article_path":"articles/PMC11528939.md","variant_annotation_id":1452627002,"variant_haplotypes":"CYP2D6 normal metabolizer","gene":"CYP2D6","drugs":"clozapine","pmid":39344086,"phenotype_category":"Dosage","significance":"yes","notes":"\"CYP2D6 phenotype was significant for prediction of clozapine, and related to higher dose at NM versus IM, and IM versus PM groups. This model predicted PMs to be administered the lowest chlorpromazine-equivalent dose of clozapine.\"","sentence":"CYP2D6 normal metabolizer is associated with increased dose of clozapine in people with Schizophrenia or Psychotic Disorder as compared to CYP2D6 intermediate metabolizer and poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer and poor metabolizer"} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755919,"variant_haplotypes":"rs4788186","gene":"LRP1","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele A is not associated with response to platinum in people with Lung Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995748,"variant_haplotypes":"rs2445365","gene":"ANGPT1","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5590735","article_title":"Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin","article_path":"articles/PMC5590735.md","variant_annotation_id":1448994437,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"efavirenz","pmid":28886044,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This is stated in the paper, but supporting data is not shown.; Allele also known as CYP3A4*22.","sentence":"Allele A is not associated with concentrations of efavirenz in children with HIV Infections as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3555061","article_title":"Impact of the CYP2C8 *3 polymorphism on the drug\u2013drug interaction between gemfibrozil and pioglitazone","article_path":"articles/PMC3555061.md","variant_annotation_id":1449713428,"variant_haplotypes":"CYP2C8*1, CYP2C8*3","gene":"CYP2C8","drugs":"pioglitazone","pmid":22625877,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"AUC0-inf and AUC0-48h","sentence":"CYP2C8 *1/*1 is associated with increased concentrations of pioglitazone in healthy individuals as compared to CYP2C8 *1/*3 + *3/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*3 + *3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC4803610","article_title":"Race-specific influence of CYP4F2 on dose and risk of hemorrhage among warfarin users","article_path":"articles/PMC4803610.md","variant_annotation_id":1447952609,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":26877068,"phenotype_category":"Dosage","significance":"yes","notes":"in European americans, but not African americans.","sentence":"Genotypes CT + TT are associated with increased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4025175","article_title":"The influence of CYP3A, PPARA, and POR genetic variants on the pharmacokinetics of tacrolimus and cyclosporine in renal transplant recipients","article_path":"articles/PMC4025175.md","variant_annotation_id":1184470283,"variant_haplotypes":"rs4253728","gene":"PPARA","drugs":"cyclosporine","pmid":24658827,"phenotype_category":"Metabolism/PK","significance":"no","notes":"A single steady-state concentration of cyclosporin was collected for each patient 2-7 wks post-transplant and compared to dose of cyclosporin administered to patients at Oslo University Hospital. Reported concentrations are \"steady-state dose-adjusted concentration\" of cyclosporin. Steady-state is defined as at least 3 days after last dose adjustment for Tac and 4 days for cyclosporine.","sentence":"Genotype AA is not associated with metabolism of cyclosporine in people with Kidney Transplantation as compared to allele G.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5711795","article_title":"Pharmacogenetic study of seven polymorphisms in three nicotinic acetylcholine receptor subunits in smoking-cessation therapies","article_path":"articles/PMC5711795.md","variant_annotation_id":1451159800,"variant_haplotypes":"rs67624739","gene":"CHRNA5","drugs":"bupropion, nicotine, varenicline","pmid":29196725,"phenotype_category":"Efficacy","significance":"no","notes":"Authors looked at the effect of variants on response to the smoking cessation therapies varenicline, bupropion and nicotine replacement therapy. Variant is reported as rs3841324 in the paper and also given the alias rs67624739.","sentence":"Allele del is not associated with response to bupropion, nicotine and varenicline in people with Tobacco Use Disorder as compared to allele CAGAGGGAAATAGGGGCGGGGC.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CAGAGGGAAATAGGGGCGGGGC","comparison_metabolizer_types":null} +{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":769169820,"variant_haplotypes":"rs2246709","gene":"CYP3A4","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"yes","notes":"People who were carriers for the G allele were more likely to reach the target mean arterial pressure of <= 92 mm Hg when treated with amlodipine compared to AA homozygotes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AG + GG are associated with increased response to amlodipine in people with Hypertension as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5354739","article_title":"Pharmacogenetic analysis of high-dose methotrexate treatment in children with osteosarcoma","article_path":"articles/PMC5354739.md","variant_annotation_id":1449188656,"variant_haplotypes":"rs4793665","gene":"ABCC3","drugs":"methotrexate","pmid":27566582,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Concentrations refers to area under the concentration time curive (0-48hrs)","sentence":"Allele C is associated with decreased concentrations of methotrexate in children with Osteosarcoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874440,"variant_haplotypes":"rs202102799","gene":"CYP2D6","drugs":"clozapine","pmid":40048458,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"In the model adjusted for clinical predictors of clozapine concentration, including smoking status and cumulative dose of clozapine, five SNPs (rs28371726 and rs202102799 in CYP2D6; rs4148323 and rs34946978 in UGT1A1; and rs2011404 in UGT1A4) showed significant associations with clozapine concentration. The rs number for each SNP associated with clozapine concentration is shown in Table 3.\" Table does not state which allele or direction of effect for these SNPs, so assuming minor allele and decreased concentration (beta value in table is negative).","sentence":"Allele C is associated with decreased concentrations of clozapine in people with Schizophrenia or Psychotic Disorder as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5293674","article_title":"A prospective study of genetic factors, human laboratory phenotypes, and heavy drinking in late adolescence","article_path":"articles/PMC5293674.md","variant_annotation_id":1450824016,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":27046326,"phenotype_category":"Other","significance":"yes","notes":"In a session of alcohol self-administration, subjects with the AG or GG genotypes had a greater initial increase in breath alcohol content (BrAC), faster BrAC increases over time and a smaller decline in BrAC at the end of the session. AG or GG subjects also reported engaging in heavy drinking more frequently than AA subjects.","sentence":"Genotypes AG + GG are associated with increased exposure to ethanol as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3910794","article_title":"Pharmacometric Characterization of Efavirenz Developmental Pharmacokinetics and Pharmacogenetics in HIV-Infected Children","article_path":"articles/PMC3910794.md","variant_annotation_id":1184233704,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"efavirenz","pmid":24145522,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"This SNP did not influence oral clearance or apparent volume of distribution. Variant was described as MDR1-1 C3435T. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with clearance of efavirenz in children with HIV Infections.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11049954","article_title":"Association of CYP3A4-392A/G, CYP3A5-6986A/G, and ABCB1-3435C/T Polymorphisms with Tacrolimus Dose, Serum Concentration, and Biochemical Parameters in Mexican Patients with Kidney Transplant","article_path":"articles/PMC11049954.md","variant_annotation_id":1452457647,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"tacrolimus","pmid":38674430,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles complemented.","sentence":"Allele A is not associated with increased concentrations of tacrolimus in people with Kidney Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5519037","article_title":"Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer","article_path":"articles/PMC5519037.md","variant_annotation_id":1448636667,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"everolimus","pmid":28727815,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note: alleles have been complemented to the positive chromosomal strand.","sentence":"Genotypes AG + GG are not associated with concentrations of everolimus in women with Breast Neoplasms as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4641035","article_title":"Efficacy and safety of ivacaftor treatment: randomized trial in subjects with cystic fibrosis who have an R117H-CFTR mutation","article_path":"articles/PMC4641035.md","variant_annotation_id":1447984897,"variant_haplotypes":"rs78655421","gene":"CFTR","drugs":"ivacaftor","pmid":26070913,"phenotype_category":"Efficacy","significance":"yes","notes":"24-week, placebo-controlled, double-blind, randomised clinical trial. Patients had the R117H variant and percentage of predicted forced expiratory volume in 1s (% predicted FEV1) of at least 40. Patients received either placebo or ivacaftor 150 mg every 12 hours for 24 weeks (1:1). The treatment difference in mean absolute change in % predicted FEV1 was 2.1 percentage points (p=0.2). But there were significant treatment differences in sweat chloride (-24.0 mmol/L, p<0.0001) and CFQ-R respiratory domain (8.4 points, p=0.009). In subgroup analyses, % predicted FEV1 improved in patients age 18 or older (p=0.01) but not 6-11 years old (favoring placebo, p=0.03). Patients' poly-T status was either 5T or 7T, and significant results for sweat chloride were seen for both types of poly-T status (p<0.0001 and p=0.0003, respectively)","sentence":"Genotypes AA + AG is associated with response to ivacaftor in people with Cystic Fibrosis.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7039325","article_title":"A functional polymorphism in the ABCB1 transporter predicts pharmacologic response to combination of nortriptyline and morphine in neuropathic pain patients","article_path":"articles/PMC7039325.md","variant_annotation_id":1451133746,"variant_haplotypes":"rs7997012","gene":"HTR2A","drugs":"morphine, nortriptyline","pmid":31738228,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in improvement in pain scores between genotype groups.","sentence":"Allele G is not associated with response to morphine and nortriptyline in people with Pain as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4855508","article_title":"Acute administration of ivacaftor to people with cystic fibrosis and a G551D-CFTR mutation reveals smooth muscle abnormalities","article_path":"articles/PMC4855508.md","variant_annotation_id":1448099051,"variant_haplotypes":"rs75527207","gene":"CFTR","drugs":"ivacaftor","pmid":27158673,"phenotype_category":"Efficacy","significance":"yes","notes":"Measured in adult patients, with changes in lung volume, sweat chloride, distensibility, wall thickness, expiratory lumen area, and inspiratory lumen area measured before starting ivacaftor and 48 hour after starting ivacaftor.","sentence":"Genotypes AA + AG are associated with increased response to ivacaftor in people with Cystic Fibrosis as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3523080","article_title":"PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients","article_path":"articles/PMC3523080.md","variant_annotation_id":1184512552,"variant_haplotypes":"rs2502815","gene":"NR1I3","drugs":"efavirenz","pmid":23173844,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Plasma levels of efavirenz were not statistically significantly different between the AA, AG, GG genotypes of this SNP.","sentence":"Genotype AA is not associated with metabolism of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756005,"variant_haplotypes":"rs461872","gene":"AQP2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele A is not associated with response to platinum in people with Lung Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815036,"variant_haplotypes":"rs10170310","gene":"SPOPL","drugs":"olanzapine","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of G alleles present in a patient was positively associated with PGI score.","sentence":"Allele C is associated with decreased response to olanzapine in people with Schizophrenia as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6475679","article_title":"Evaluating metronidazole as a novel, safe CYP2A6 phenotyping probe in healthy adults","article_path":"articles/PMC6475679.md","variant_annotation_id":1451162940,"variant_haplotypes":"CYP2A6*1, CYP2A6*2, CYP2A6*9, CYP2A6*17","gene":"CYP2A6","drugs":"nicotine","pmid":30706508,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Metabolite ratios for nicotine were significantly reduced in reduced metabolizers compared to normal metabolizers. Subjects were genotyped for the *2, *4, *7, *9, *12, *17, *20, *23-*28, *31 and *35 alleles, although no details of rsIDs are given. No participants were found to have the *7 allele, so no testing for the *8 or *10 alleles was carried out.","sentence":"CYP2A6 *1/*2 + *1/*9 + *1/*17 (assigned as reduced metabolizers phenotype) are associated with decreased metabolism of nicotine in healthy individuals as compared to CYP2A6 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*9 + *1/*17","specialty_population":null,"metabolizer_types":"reduced metabolizers","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114826,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and AUC0-12 of lopinavir or ritonavir in patients treated with lopinavir/ritonavir. Variant referred to in the paper as C3435T.","sentence":"Allele A is not associated with exposure to lopinavir or ritonavir in children with HIV Infections as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2928561","article_title":"A polymorphism in the VKORC1-regulator calumenin predicts higher warfarin doses in African-Americans","article_path":"articles/PMC2928561.md","variant_annotation_id":637879873,"variant_haplotypes":"rs339097","gene":"CALU","drugs":"warfarin","pmid":20200517,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele G is associated with increased dose of warfarin.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC1754569","article_title":"Genetic markers for the efficacy of tumour necrosis factor blocking therapy in rheumatoid arthritis","article_path":"articles/PMC1754569.md","variant_annotation_id":1444668195,"variant_haplotypes":"rs1800896","gene":"IL10","drugs":"etanercept","pmid":12759288,"phenotype_category":"Efficacy","significance":"yes","notes":"When this genotype is combined with the rs1800629 GG genotype. Those with the CC-GG combination genotype were more likely to be responders to treatment, as compared to those with any other combination of genotypes. However, no significant difference in genotype frequencies was seen between responders and non-responders when considering the rs1800629 or 1800896 SNPs alone. Responders defined using the American College of Rheumatology (ACR) response criteria and response criteria based on the modified disease activity score (DAS)28 index. Non-responders failed to fulfill both these criteria.","sentence":"Genotype CC is associated with increased response to etanercept in people with Arthritis, Rheumatoid as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3244642","article_title":"Dosing equation for tacrolimus using genetic variants and clinical factors","article_path":"articles/PMC3244642.md","variant_annotation_id":1184514826,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":21671989,"phenotype_category":"Dosage","significance":"not stated","notes":"Patients carrying different CYP3A5 genotypes had tacrolimus dose requirement in the order of: CYP3A5*1/*1>CYP3A5*1/*3>CYP3A5*3/*3 at 2, 4, 6, 8, 10, 12, 14, 16, 18, 20, 22 and 24 week post-transplantation.","sentence":"Allele T is associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4537319","article_title":"Genetic Variation (CHRNA5), Medication (Combination Nicotine Replacement Therapy vs. Varenicline) and Smoking Cessation","article_path":"articles/PMC4537319.md","variant_annotation_id":1450822293,"variant_haplotypes":"rs16969968","gene":"CHRNA3, CHRNA5","drugs":"varenicline","pmid":26142345,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in abstinence rates between placebo and varenicline treatment groups.","sentence":"Allele G is not associated with response to varenicline in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6038204","article_title":"Genotype-guided versus traditional clinical dosing of warfarin in patients of Asian ancestry: a randomized controlled trial","article_path":"articles/PMC6038204.md","variant_annotation_id":1449577814,"variant_haplotypes":"rs7196161","gene":"VKORC1","drugs":"warfarin","pmid":29986700,"phenotype_category":"Dosage","significance":"not stated","notes":"used in a study comparing genotype-guided dosing vs conventional for warfarin initiation. Alleles complemented to plus chromosomal strand. Direction of effect not explicitly stated.","sentence":"Allele A is associated with dose of warfarin in people with Atrial Fibrillation, Pulmonary Embolism, Stroke and Venous Thrombosis as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation, Disease:Pulmonary Embolism, Disease:Stroke, Disease:Venous Thrombosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10970167","article_title":"PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis","article_path":"articles/PMC10970167.md","variant_annotation_id":1452433467,"variant_haplotypes":"rs12979813","gene":"DOCK6","drugs":"apremilast","pmid":38540428,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Allele-based association tests detected 64 SNPs displaying nominal p values < 0.05 (Table 2) including 10 SNPs with p values \u2264 0.01. \" Table 2 shows frequency of minor allele is responders and non-responders. Responder status maybe defined by PASI score improvement greater than 75% after 24\u201336 weeks of treatment.","sentence":"Allele G is associated with increased clinical benefit to apremilast in people with Psoriasis as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163533,"variant_haplotypes":"rs4646450","gene":"CYP3A5","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients, this was one of the variants that passed validation in both populations. Direction of effect was not stated.","sentence":"Allele A is associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4298011","article_title":"Adrenergic receptor genotype influences heart failure severity and \u03b2-blocker response in children with dilated cardiomyopathy","article_path":"articles/PMC4298011.md","variant_annotation_id":1451544792,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"Beta Blocking Agents","pmid":25406899,"phenotype_category":"Efficacy","significance":"yes","notes":"Study looked at effect of 'high-risk' genotypes (i.e. genotypes of one or more of rs61767072 del, rs1801253 C or rs1042713 A alleles) on response to beta-blockers. Patients with more 'high-risk' alleles showed a greater response to beta-blockers than those with fewer 'high-risk' alleles.","sentence":"Allele A is associated with increased response to Beta Blocking Agents in children with Cardiomyopathy, Dilated as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Cardiomyopathy, Dilated","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4498287","article_title":"Screening for UGT1A1 Genotype in Study A5257 Would Have Markedly Reduced Premature Discontinuation of Atazanavir for Hyperbilirubinemia","article_path":"articles/PMC4498287.md","variant_annotation_id":1445296945,"variant_haplotypes":"rs887829","gene":"UGT1A1","drugs":"atazanavir","pmid":26180834,"phenotype_category":"Toxicity","significance":"yes","notes":"Atazanavir + ritonavir (atazanavir/r). The TT genotype was associated with a greater cumulative incidence of bilirubin-associated discontinuation of atazanavir in White, Black and Hispanic participants, as well as all participants combined, as compared to the CC or CT genotype. Bilirubin-related events defined as those due to jaundice, elevated bilirubin or hyperpigmentation. Authors suggest that the high rate of discontinuation among White participants in particular may be due to differences in physical manifestations of jaundice.","sentence":"Genotype TT is associated with increased discontinuation of atazanavir in people with HIV Infections as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672740,"variant_haplotypes":"rs111869995","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele A is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113880,"variant_haplotypes":"rs648893","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele G is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161493,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"methadone","pmid":21589866,"phenotype_category":"Dosage","significance":"no","notes":"This association was not significant. No details about which specific variants/alleles were tested for, however the authors state that genotyping of *1/*6 individuals did not exclude the possibility of them actually being *4/*9.","sentence":"CYP2B6 *6/*6 is associated with decreased dose of methadone in people with Opioid-Related Disorders as compared to CYP2B6 *1/*1.","alleles":"*6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2599947","article_title":"ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence","article_path":"articles/PMC2599947.md","variant_annotation_id":1450811587,"variant_haplotypes":"rs2520464","gene":"ABCB1","drugs":"methadone","pmid":18424454,"phenotype_category":"Dosage","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. Genotypes were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone.","sentence":"Genotype TT is not associated with dose of methadone in people with Heroin Dependence as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5614982","article_title":"Impact of Gastric H+/K+-ATPase rs2733743 on the Intragastric pH-Values of Dexlansoprazole Injection in Chinese Subjects","article_path":"articles/PMC5614982.md","variant_annotation_id":1451136960,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"dexlansoprazole","pmid":29018343,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP2C19*2 (rs4244285), CYP2C19*3 (rs4986893), CYP2C19*17 (rs12248560) were genotyped but only *2 and *3 were identified. CYP2C19 PMs presented a slower elimination and higher exposure (Cmax and AUCPK) compared to CYP2C19 homEMs, while the elimination and exposure of CYP2C19 hetEMs were intermediate between that of PMs and homEMs. In the 30 mg group, CYP2C19 PMs exhibit significantly higher Cmax, AUCPK, and t1/2 than homEMs and presented remarkably higher AUCPK and t1/2 than those of CYP2C19 hetEMs. CYP2C19 hetEMs shows a significantly higher Cmax and AUCPK compared to CYP2C19 homEMs.","sentence":"CYP2C19 *2/*2 is associated with decreased metabolism of dexlansoprazole in healthy individuals as compared to CYP2C19 *1/*1.","alleles":"*2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166044,"variant_haplotypes":"rs2886059","gene":"ALDH1L1","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3637851","article_title":"A phase I/II pharmacokinetic and pharmacogenomic study of calcitriol in combination with cisplatin and docetaxel in advanced non-small-cell lung cancer","article_path":"articles/PMC3637851.md","variant_annotation_id":982046747,"variant_haplotypes":"rs2762939","gene":"CYP24A1","drugs":"calcitriol, cisplatin, docetaxel","pmid":23435876,"phenotype_category":"Efficacy","significance":"no","notes":"The GG genotype was correlated with stable disease and partial response.","sentence":"Genotype GG is associated with increased response to calcitriol, cisplatin and docetaxel in people with Carcinoma, Non-Small-Cell Lung as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} +{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566630,"variant_haplotypes":"rs2276332","gene":"ADH1A","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this snp is NOT significant after Bonferroni correction (<0.00049). Also, the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele C is associated with metabolism of ethanol.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6501809","article_title":"Pharmacokinetic-Pharmacodynamic interaction associated with venlafaxine-XR remission in patients with major depressive disorder with history of citalopram / escitalopram treatment failure","article_path":"articles/PMC6501809.md","variant_annotation_id":1452046240,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"duloxetine","pmid":30578947,"phenotype_category":"Efficacy","significance":"no","notes":"The 5-HTTLPR was not associated with significant differences in remission (QIDS-C16) in patients receiving duloxetine (duloxetine after SSRI failure).","sentence":"SLC6A4 HTTLPR long form (L allele) is not associated with response to duloxetine in people with Depressive Disorder, Major as compared to SLC6A4 HTTLPR short form (S allele).","alleles":"HTTLPR long form (L allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR short form (S allele)","comparison_metabolizer_types":null} +{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":699638971,"variant_haplotypes":"rs4148950","gene":"CHST3","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with dbSNP, actual base not listed in paper)","sentence":"Allele A is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5438821","article_title":"Sex Differences in the Blood Concentration of Tacrolimus in Systemic Lupus Erythematosus and Rheumatoid Arthritis Patients with CYP3A5*3/*3","article_path":"articles/PMC5438821.md","variant_annotation_id":1448612320,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":28324194,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The dose-adjusted concentration of tacrolimus was significantly higher in patients with the *3/*3 genotype as compared to those with the *1/*1 or *1/*3 genotypes. The authors note that within those with the *3/*3 genotype, tacrolimus concentration was higher in men than woman (p<0.05) and higher in women over 50 than women under 50 (p<0.05).","sentence":"CYP3A5 *3/*3 is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Arthritis, Rheumatoid or Lupus Erythematosus, Systemic as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis, Disease:Systemic lupus erythematosus","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC3292264","article_title":"Exploration of CYP450 and drug transporter genotypes and correlations with nevirapine exposure in Malawians","article_path":"articles/PMC3292264.md","variant_annotation_id":827823698,"variant_haplotypes":"rs28371706","gene":"CYP2D6","drugs":"nevirapine","pmid":22111602,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"This association was not observed in adults, only in children. The A allele was referred to as CYP2D6*17 in this study. This variant was not a significant factor in a multiple regression model for determining nevirapine AUC but age was. [stat_test: linear regression]","sentence":"Genotypes AA + AG are associated with decreased clearance of nevirapine in children with HIV Infections as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157257,"variant_haplotypes":"rs529520","gene":"OPRD1","drugs":"methadone","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC9891445","article_title":"Effects of genetic polymorphisms on methotrexate levels and toxicity in Chinese patients with acute lymphoblastic leukemia","article_path":"articles/PMC9891445.md","variant_annotation_id":1452009018,"variant_haplotypes":"rs1801394","gene":"MTRR","drugs":"methotrexate","pmid":36742186,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"at 48 hours.","sentence":"Genotypes AG + GG is associated with increased concentrations of methotrexate in people with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6411020","article_title":"Genetic Polymorphisms in Aquaporin 1 as Risk Factors for Malignant Mesothelioma and Biomarkers of Response to Cisplatin Treatment","article_path":"articles/PMC6411020.md","variant_annotation_id":1450936468,"variant_haplotypes":"rs1049305","gene":"AQP1","drugs":"cisplatin","pmid":30840592,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between genotype and progress-free survival, overall survival or chemotherapy response in patients with malignant mesothelioma who were treated with cisplatin-based chemotherapy.","sentence":"Genotypes CC + CG are not associated with response to cisplatin in people with Mesothelioma as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Mesothelioma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4731723","article_title":"TOLLIP, MUC5B, and the Response to N-Acetylcysteine among Individuals with Idiopathic Pulmonary Fibrosis","article_path":"articles/PMC4731723.md","variant_annotation_id":1447982629,"variant_haplotypes":"rs3750920","gene":"TOLLIP","drugs":"acetylcysteine","pmid":26331942,"phenotype_category":"Efficacy","significance":"yes","notes":"Clinical endpoints included death, transplant, hospitalization, or FVC decline, and risk was adjusted for age, sex, prednisone use, azathioprine use, FVC, diffusion capacity of the lung, and trial/center.","sentence":"Genotype TT is associated with increased response to acetylcysteine in people with Pulmonary Fibrosis as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pulmonary Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4867099","article_title":"Pharmacogenetics of unboosted atazanavir in HIV-infected individuals in resource-limited settings: a sub-study of the AIDS Clinical Trials Group (ACTG) PEARLS study (NWCS 342)","article_path":"articles/PMC4867099.md","variant_annotation_id":1447947654,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"atazanavir","pmid":26892777,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Looked at CL/F, Concentration at 24 hours, ratios of metabolites 1 and 2 to atazanavir.","sentence":"Genotype GG (assigned as deficiency phenotype) is not associated with concentrations of atazanavir in people with HIV Infections as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238789,"variant_haplotypes":"rs1546519","gene":"LYN","drugs":"ziprasidone","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. Please note: reported allele was C, this has been complemented to the plus chromosomal strand. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele G is associated with response to ziprasidone in people with Schizophrenia.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC9306465","article_title":"Clinic and genetic predictors in response to erenumab","article_path":"articles/PMC9306465.md","variant_annotation_id":1452311665,"variant_haplotypes":"rs7590387","gene":"RAMP1","drugs":"erenumab","pmid":34965002,"phenotype_category":"Efficacy","significance":"no","notes":"\"RAMP1 rs7590387 was found to confer a lower probability of being 75\u2010RESP compared to the rs7590387C allele (for each G allele, OR [95% CI]: 0.53 [0.29\u20130.99], p = 0.048, Table 4). However, the nominal association of RAMP1 rs7590387 with 75\u2010RESP was lost after adjustments for clinical confounders (OR [95% CI] 0.55 [0.28\u20131.10], p = 0.09, Table 4)\" 75-RESP is a 75% reduction in monthly migraine days after 3 months treatment.","sentence":"Allele G is associated with decreased clinical benefit to erenumab in people with Migraine NOS as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472412,"variant_haplotypes":"rs11676382","gene":"GGCX","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"no","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"Allele C is not associated with dose of warfarin as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896054,"variant_haplotypes":"rs11811628","gene":"ATF3","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183634284,"variant_haplotypes":"rs17010902","gene":null,"drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"Significance was not attained. Observations: 7.35 mm Hg increased reduction of systolic blood pressure per A allele in PEAR + GERA, 1.28 mm Hg decreased reduction of systolic blood pressure per A allele in NORDIL, and 4.34 mm Hg increased reduction of systolic blood pressure per A allele in PEAR + GERA + NORDIL.","sentence":"Allele A is not associated with response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3786570","article_title":"Response to citalopram is not associated with SLC6A4 genotype in African-Americans and Caucasians with major depression","article_path":"articles/PMC3786570.md","variant_annotation_id":1452053606,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"citalopram","pmid":23562852,"phenotype_category":"Efficacy","significance":"no","notes":"The 5-HTTLPR was not associated with significant differences in response (HAMD) in patients receiving citalopram.","sentence":"SLC6A4 HTTLPR long form (L allele) is not associated with response to citalopram in people with Depressive Disorder, Major as compared to SLC6A4 HTTLPR short form (S allele).","alleles":"HTTLPR long form (L allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR short form (S allele)","comparison_metabolizer_types":null} +{"pmcid":"PMC3894627","article_title":"Genetic Determinants of Response to Warfarin during Initial Anticoagulation","article_path":"articles/PMC3894627.md","variant_annotation_id":1450980680,"variant_haplotypes":"rs2359612","gene":"VKORC1","drugs":"warfarin","pmid":18322281,"phenotype_category":"Dosage","significance":"yes","notes":"With *1/*2 (AG) requiring intermediate dose. This was most marked at day 28 to end of follow-up with average doses of 3.66mg/day for *2*2 (HaplotypeA/HaplotypeA\"), 4.45mg/day for HaplotypeA/nonA and 5.68mg/day for nonA/nonA. Authors also used rs9923231, rs2884737, rs9934438, and rs8050894 to define HaplotypeA.","sentence":"Genotype AA is associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC539815","article_title":"TBX21: A functional variant predicts improvement in asthma with the use of inhaled corticosteroids","article_path":"articles/PMC539815.md","variant_annotation_id":981477503,"variant_haplotypes":"rs2240017","gene":"TBX21","drugs":"corticosteroids","pmid":15604153,"phenotype_category":"Efficacy","significance":"yes","notes":"There were no GG individuals.","sentence":"Genotype CG is associated with increased response to corticosteroids in children with Asthma as compared to genotype CC.","alleles":"CG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5898372","article_title":"Genotypic and Phenotypic Factors Influencing Drug Response in Mexican Patients With Type 2 Diabetes Mellitus","article_path":"articles/PMC5898372.md","variant_annotation_id":1451216520,"variant_haplotypes":"rs72552763","gene":"SLC22A1","drugs":"sulfonamides, urea derivatives","pmid":29681852,"phenotype_category":"Efficacy","significance":"no","notes":"described as Met420Del in paper.","sentence":"Allele del is not associated with response to sulfonamides, urea derivatives in people with Diabetes Mellitus as compared to allele GAT.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GAT","comparison_metabolizer_types":null} +{"pmcid":"PMC8513493","article_title":"Genome wide association study identifies the common variants in CYP3A4 and CYP3A5 responsible for variation in tacrolimus trough concentration in Caucasian kidney transplant recipients","article_path":"articles/PMC8513493.md","variant_annotation_id":1449171296,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"tacrolimus","pmid":29160300,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"GWAS in patients with two CYP3A5 loss-of-function alleles. Loss-of-function alleles were *3, *6, or *7. Genotype composition in the population was 1342 with *3/*3, 2 with *3/*6 and 1 with *3/*7. The association of the variant with TAC concentration was significant in the GWAS analysis P=2.21E-17. The distribution of the dose-normalized TAC concentration for all three genotypes is shown in Supplementary Figure S2 with the AA (*22/*22) and AG (*1/*22) genotypes having higher dose-adjusted concentrations as compared to the GG (*1/*1) genotype. However, no statistical analysis was preformed with regards to the individual genotypes.","sentence":"Allele A is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3358293","article_title":"Therapeutic Dosing of Acenocoumarol: Proposal of a Population Specific Pharmacogenetic Dosing Algorithm and Its Validation in North Indians","article_path":"articles/PMC3358293.md","variant_annotation_id":981954438,"variant_haplotypes":"CYP2C9*1","gene":"CYP2C9","drugs":"acenocoumarol","pmid":22629463,"phenotype_category":"Dosage","significance":"no","notes":"No significant difference was seen between the daily dose for CYP2C9 wildtype patients and the daily dose for CYP2C9 variant carriers. This study provides an algorithm for predicting the maintenance dose of acenocoumarol using genotypes as well as clinical factors as predictive variables.","sentence":"CYP2C9 *1 is not associated with increased dose of acenocoumarol as compared to CYP2C9 *2 + *3.","alleles":"*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2 + *3","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359432,"variant_haplotypes":"rs6356","gene":"TH","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of heroin in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4972156","article_title":"Pharmacokinetics of lamotrigine and its metabolite N\u20102\u2010glucuronide: Influence of polymorphism of UDP\u2010glucuronosyltransferases and drug transporters","article_path":"articles/PMC4972156.md","variant_annotation_id":1447983614,"variant_haplotypes":"rs628031","gene":"SLC22A1","drugs":"lamotrigine","pmid":27096250,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was conducted in 100 patients -- 54 receiving monotherapy for lamotrigine, and 46 receiving combination therapy with carbamazepine, oxcarbazepine, valproic acid, phenytoin, phenobarbital, levetiracetam, topiramate, lacosamide, zonisamide, pregabalin, clonazepam, or clobazam. All patients were on stable therapy for at least 2 months.","sentence":"Genotype GG is associated with increased dose of lamotrigine in people with Epilepsy as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3273458","article_title":"Deciphering the Interleukin 28B Variants That Better Predict Response to Pegylated Interferon-\u03b1 and Ribavirin Therapy in HCV/HIV-1 Coinfected Patients","article_path":"articles/PMC3273458.md","variant_annotation_id":1444705115,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":22328925,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Genotype TT is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Hepatitis C, HIV Infections and HIV Infections as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection, Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC11531276","article_title":"Pharmacogenomic Study of Selected Genes Affecting Amlodipine Blood Pressure Response in Patients with Hypertension","article_path":"articles/PMC11531276.md","variant_annotation_id":1452697440,"variant_haplotypes":"rs312481","gene":"CACNA1D","drugs":"amlodipine","pmid":39492848,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Individuals with the GG genotype demonstrated a significant independent reduction in blood pressure (unadjusted odds ratio (95% CI)=2.91(1.34\u20134.97), p=0.021). After adjusting for confounding variables, the association between SNP rs312481 and blood pressure regulation by amlodipine remained consistent (adjusted odds ratio (95% CI)= 2.01 (1.12\u20135.01), P=0.024). \"","sentence":"Genotype GG is associated with increased clinical benefit to amlodipine in people with Hypertension as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680752,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele G is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930607,"variant_haplotypes":"rs3743077","gene":"CHRNA3","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele T is not associated with exposure to nicotine in men as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5449482","article_title":"Effect of Genetic Variability in the CYP4F2, CYP4F11, and CYP4F12 Genes on Liver mRNA Levels and Warfarin Response","article_path":"articles/PMC5449482.md","variant_annotation_id":1448633915,"variant_haplotypes":"rs1060467","gene":"CYP4F11","drugs":"warfarin","pmid":28620303,"phenotype_category":"Dosage","significance":"yes","notes":"The G allele was associated with a decrease in stable warfarin dose and accounted for 2.6% of the variance. AA= 4.6 \u00b1 0.2, AG = 3.9 \u00b1 0.1 GG = 3.8 \u00b1 0.2. The addition of rs1060467 to PGx algorithm (included CYP2C9, VKORC1) explained a further 0.5\u20130.7% of variability. When conditioned on rs1060467, the association w/ rs2108622 & warfarin dose decreased (beta initial = 0.078, beta conditional = 0.063, initial P-value = 0.003, conditional P-value = 0.05). Alleles have been complemented to the positive strand.","sentence":"Allele G is associated with decreased dose of warfarin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170850,"variant_haplotypes":"CYP3A5 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP3A5","drugs":"endoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A5 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of endoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3038469","article_title":"Genetic and nongenetic factors associated with warfarin dose requirements in Egyptian patients","article_path":"articles/PMC3038469.md","variant_annotation_id":827864550,"variant_haplotypes":"rs339097","gene":"CALU","drugs":"warfarin","pmid":21228733,"phenotype_category":"Dosage","significance":"no","notes":"A p value of 0.04 was given for dose- genotype association, but the authors stated that this association did not reach significanc in multiple regression testing (p = 0.066), and that was likely due to insufficient power.Variant allele carriers required 14.1 mg/week more warfarin than AA.","sentence":"Genotypes AG + GG are associated with increased dose of warfarin as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5604731","article_title":"Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients","article_path":"articles/PMC5604731.md","variant_annotation_id":827863356,"variant_haplotypes":"rs1979277","gene":"SHMT1","drugs":"methotrexate","pmid":22450926,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC9582748","article_title":"Effects of CYP2C19 genetic polymorphisms on the cure rates of H. pylori in patients treated with the proton pump inhibitors: An updated meta-analysis","article_path":"articles/PMC9582748.md","variant_annotation_id":1451926980,"variant_haplotypes":"CYP2C19 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2C19","drugs":"Proton pump inhibitors","pmid":36278195,"phenotype_category":"Efficacy","significance":"yes","notes":"in meta-analysis of cure rates of H. pylori in triple therapy.","sentence":"CYP2C19 intermediate metabolizer and poor metabolizer is associated with increased clinical benefit to Proton pump inhibitors in people with Helicobacter Infections as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983318,"variant_haplotypes":"rs16873129","gene":"RAPGEF5","drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here (C). Response considered to be successful with a 50% reduction at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele C is associated with decreased response to antidepressants in people with Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1448522373,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01.","sentence":"UGT1A1 *28/*28 is not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to UGT1A1 *1/*1 + *1/*28.","alleles":"*28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*28","comparison_metabolizer_types":null} +{"pmcid":"PMC3946972","article_title":"Pharmacotherapy Effects on Smoking Cessation Vary with Nicotine Metabolism Gene (CYP2A6)","article_path":"articles/PMC3946972.md","variant_annotation_id":1450820537,"variant_haplotypes":"CYP2A6 high activity","gene":"CYP2A6","drugs":"bupropion","pmid":24033696,"phenotype_category":"Efficacy","significance":"no","notes":"Patients with a predicted CYP2A6 \"fast metabolizer\" or \"slow metabolizer\" phenotype were equally likely to respond to bupropion as smoking cessation treatment.","sentence":"CYP2A6 high activity is not associated with response to bupropion in people with Tobacco Use Disorder as compared to CYP2A6 low activity.","alleles":null,"specialty_population":null,"metabolizer_types":"high activity","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"low activity"} +{"pmcid":"PMC5505550","article_title":"Efficacy of piroxicam for postoperative pain after lower third molar surgery associated with CYP2C8*3 and CYP2C9","article_path":"articles/PMC5505550.md","variant_annotation_id":1448820078,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"piroxicam","pmid":28740425,"phenotype_category":"Efficacy","significance":"not stated","notes":"Subjects had at least one impacted lower third molar extracted. Measurements were taken of 1) postoperative mouth opening (millimeters) was measured pre- and post-op on days 2 & 7 2) and swelling measurements due to edema were recorded and 3) subjective measures of pain. None were associated with the genotype.","sentence":"Allele T is not associated with response to piroxicam as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11717999","article_title":"Influence of ABCB1 polymorphisms on aripiprazole and dehydroaripiprazole plasma concentrations","article_path":"articles/PMC11717999.md","variant_annotation_id":1452808185,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"aripiprazole, dehydroaripiprazole","pmid":39789135,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"Regarding ARI/DHA ratio, significant differences between the different variants were observed in the three SNPs analyzed. Specifically, for C3434T it was obtained an ARI/DHA ratio 37.4% higher for CC (2.35) compared to the TT variant (1.71), for G2677T 93% higher for GG (3.27) vs TT (1.69) and for C1236T 64.2% higher for CC (2.93) vs TT (1.78) (Fig. 1A). Comparing Non-T carriers vs. T carriers variants as a whole, yielded 22.3%, 70.07% and 47.43% more respectively, maintaining statistical significance (Fig. 1B).\" \"For ABCB1, the following variants were analyzed: C3435T (rs1045642), C2677 T/A (rs2032582) and C1236T (rs1128503).\"","sentence":"Genotype GG is associated with increased concentrations of aripiprazole and dehydroaripiprazole as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566660,"variant_haplotypes":"rs17033","gene":"ADH1B","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this snp is NOT significant after Bonferroni correction (<0.00049). Also, the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele C is associated with metabolism of ethanol.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4087845","article_title":"Pharmacodynamic and kinetic effect of rabeprazole on serum gastrin level in relation to CYP2C19 polymorphism in Chinese Hans","article_path":"articles/PMC4087845.md","variant_annotation_id":1183622290,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"rabeprazole","pmid":16937451,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in area under the concentration-time curve (AUC) for rabeprazole were seen between the two genotype groups. Subjects were given rabeprazole for 8 days; AUC was measured on day 1 and day 8 after rabeprazole administration. Please note that the *2 and *3 alleles were referred to by their previous designations (CYP2C19*m1 and *m2, respectively).","sentence":"CYP2C19 *1/*1 is not associated with metabolism of rabeprazole in healthy individuals as compared to CYP2C19 *1/*2 + *1/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954014,"variant_haplotypes":"rs1982350","gene":"BMAL1","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451673020,"variant_haplotypes":"rs777098658","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele G is associated with decreased metabolism of nicotine as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6969041","article_title":"Impact of CYP2C19 genotype on sertraline exposure in 1200 Scandinavian patients","article_path":"articles/PMC6969041.md","variant_annotation_id":1450933318,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"sertraline","pmid":31649299,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Compared with the CYP2C19 NMs (*1/*1), the sertraline serum concentration was increased 1.38-fold (p < 0.001, 95% CI 1.26\u20131.50) in CYP2C19 IMs (carriers of one no function alleles in combination with either *17 or *1). A 1.47-fold (p < 0.001, 95% CI 1.35\u20131.60) higher concentration of N-desmethylsertraline was found in IMs. Compared with NMs, the N-desmethylsertraline-to-sertraline metabolic ratio was 1.14-fold higher ratio in IMs (p < 0.001, 95% CI 1.06\u20131.22). In CYP2C19 IMs, the OR for having one or more TDM measurements above the target concentration range of 250 nM was 1.97 (p = 0.064, CI: 1.21\u20133.21), compared to CYP2C19 NMs. Study identified *2, *3, and *4 as no function alleles but not reported specific diplotypes, the diplotypes in the annotations are used as a representation.","sentence":"CYP2C19 *1/*2 + *1/*3 (assigned as intermediate metabolizer phenotype) are associated with decreased metabolism of sertraline as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*3","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4490522","article_title":"Pharmacogenomics of Methotrexate Membrane Transport Pathway: Can Clinical Response to Methotrexate in Rheumatoid Arthritis Be Predicted?","article_path":"articles/PMC4490522.md","variant_annotation_id":1444843357,"variant_haplotypes":"rs246240","gene":"ABCC1","drugs":"methotrexate","pmid":26086825,"phenotype_category":"Efficacy","significance":"yes","notes":"ABCC1 rs246240 G carrier is associated with increased risk of non-response to methotrexate.","sentence":"Genotypes AG + GG are associated with decreased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436540,"variant_haplotypes":"rs1751034","gene":"ABCC4","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Based on available allele frequency data, it is assumed that the paper compares the C and T alleles.","sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10565537","article_title":"Effects of CYP3A4 and CYP2C9 genotype on systemic anastrozole and fulvestrant concentrations in SWOG S0226","article_path":"articles/PMC10565537.md","variant_annotation_id":1452234400,"variant_haplotypes":"CYP2C9 intermediate metabolizer","gene":"CYP2C9","drugs":"anastrozole","pmid":37615099,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles measured included CYP2C9*2, CYP2C9*3 (or*18), CYP2C9*4, CYP2C9*5, CYP2C9*6, CYP2C9*8, CYP2C9*9, CYP2C9*10, CYP2C9*11, CYP2C9*12, CYP2C9*13, CYP2C9*15, CYP2C9*25 and CYP2C9*27. Alleles and phenotypes were modeled after CPIC. \"participants with low CYP2C9 activity had lower anastrozole concentrations and higher fulvestrant concentrations than participants with high CYP2C9 activity\"","sentence":"CYP2C9 intermediate metabolizer and poor metabolizer is associated with decreased concentrations of anastrozole in people with Breast Neoplasms and Neoplasm Metastasis as compared to CYP2C9 normal metabolizer and ultrarapid metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Breast Neoplasms, Other:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and ultrarapid metabolizer"} +{"pmcid":"PMC5727167","article_title":"Identification of two novel genes SLC15A2 and SLCO1B3 associated with maintenance dose variability of warfarin in a Chinese population","article_path":"articles/PMC5727167.md","variant_annotation_id":1449157673,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":29234073,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype TT is associated with decreased dose of warfarin as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981793968,"variant_haplotypes":"rs4694362","gene":"DCK","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy","significance":"no","notes":"Tumor response to therapy and progression free survival did not significantly differ between genotype groups.","sentence":"Genotype TT is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes CT + TT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2743299","article_title":"GENE AND GENE BY SEX ASSOCIATIONS WITH INITIAL SENSITIVITY TO NICOTINE IN NONSMOKERS","article_path":"articles/PMC2743299.md","variant_annotation_id":1450812316,"variant_haplotypes":"rs6277","gene":"DRD2","drugs":"nicotine","pmid":18690117,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. Male subjects with the AA genotype had a higher perception score of \"feel the effects\" of nicotine with 5ug/kg nicotine, while male subjects with the AA or AG genotypes had higher \"feel the effects\" scores with 10ug/kg. Male subjects with the AA genotype had decreased fatigue and increased anger in the mood scoring compared to male subjects with the AG or GG genotypes. There was no significant association between this variant and physiological responses to nicotine, performance task responses or nicotine reinforcement.","sentence":"Allele A is associated with increased response to nicotine in men as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3641305","article_title":"NAT2 genotype guided regimen reduces isoniazid-induced liver injury and early treatment failure in the 6-month four-drug standard treatment of tuberculosis: A randomized controlled trial for pharmacogenetics-based therapy","article_path":"articles/PMC3641305.md","variant_annotation_id":981851641,"variant_haplotypes":"NAT2*4, NAT2*6, NAT2*7, NAT2*14, NAT2*16, NAT2*19","gene":"NAT2","drugs":"isoniazid","pmid":23150149,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Originally annotated as \"compared to NAT2 *19 + *14A + *5D + *6B + *7A (assigned as slow acetylator phenotype)\". Patients were given an isoniazid dose based on NAT2 acetylator status or a standard dose. Slow acetylators (carriers of two variant alleles *19, *14, *5, *6, or *7) who had their dose adjusted had a reduced incidence of liver injury as compared to those who received a standard dose, and fast acetylators (*4/*4, either given standard dose or 1.5x standard dose) who had their dose adjusted had a reduced incidence of early treatment failure (at 8 weeks) as compared to those who received a standard dose.; The arylamine N-acetyltransferases (NATs) database was transitioned into the PharmVar database in March 2024. the alleles included in this annotation are mapped as following: NAT2*14A under the *14 core allele; NAT2*5D under the *16 core allele; NAT2*6B under the *6 core allele; NAT2*7A under the *7 core allele.","sentence":"NAT2 *4/*4 (assigned as rapid acetylator phenotype) is associated with increased dose of isoniazid in people with Tuberculosis as compared to NAT2 *19 + *14 + *16 + *6 + *7 (assigned as slow acetylator phenotype) .","alleles":"*4/*4","specialty_population":null,"metabolizer_types":"rapid acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*19 + *14 + *16 + *6 + *7","comparison_metabolizer_types":"slow acetylator"} +{"pmcid":"PMC7039325","article_title":"A functional polymorphism in the ABCB1 transporter predicts pharmacologic response to combination of nortriptyline and morphine in neuropathic pain patients","article_path":"articles/PMC7039325.md","variant_annotation_id":1451133560,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"morphine, nortriptyline","pmid":31738228,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the GG genotype had a significantly greater improvement in pain scores compared to those with the AA or AG genotypes. Please note that alleles have been complemented to the positive strand.","sentence":"Genotype GG is associated with increased response to morphine and nortriptyline in people with Pain as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC10337687","article_title":"Association Between Vitamin D Receptor Polymorphism and the Response to Helicobacter Pylori Treatment","article_path":"articles/PMC10337687.md","variant_annotation_id":1452156506,"variant_haplotypes":"rs7975232","gene":"VDR","drugs":"amoxicillin, clarithromycin, omeprazole","pmid":37449247,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with increased response to amoxicillin, clarithromycin and omeprazole in people with Helicobacter Infections as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767259,"variant_haplotypes":"rs9293392","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele T is not associated with trough concentration of vancomycin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981794226,"variant_haplotypes":"rs324148","gene":"SLC29A1","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Tumor response to therapy, progression free survival, and risk of neutropenia development did not significantly differ between genotype groups.","sentence":"Genotype CC is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479768,"variant_haplotypes":"rs2859228","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3786668","article_title":"Human Polymorphisms in the Glutathione Transferase Zeta 1/Maleylacetoacetate Isomerase Gene Influence the Toxicokinetics of Dichloroacetate","article_path":"articles/PMC3786668.md","variant_annotation_id":827786978,"variant_haplotypes":"rs7972","gene":"GSTZ1, POMT2","drugs":"dichloroacetic acid","pmid":21642471,"phenotype_category":"Other, Metabolism/PK","significance":"yes","notes":"The statement above is meant for a haplotype rather than for the allele. For the various possible haplotype combinations involving rs7975,rs7972,rs1046428, the most rapid clearance was observed for subjects having at least one \"wild-type\" allele (G for rs7975,G for rs7972, C for rs1046428. Rate was 2.2 +/- 0.7 vs 0.73 +/- 0.84 mL/min, and the very highest rate was seen in homozygous \"wild-type\".","sentence":"Allele G is associated with increased metabolism of dichloroacetic acid in healthy individuals.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375544,"variant_haplotypes":"rs77567654","gene":"GREM2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment. This SNP is in strong LD with rs1934341.","sentence":"Allele G is associated with increased response to allopurinol as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4746878","article_title":"A pharmacogenetic pilot study reveals MTHFR, DRD3, and MDR1 polymorphisms as biomarker candidates for slow atorvastatin metabolizers","article_path":"articles/PMC4746878.md","variant_annotation_id":1451352866,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"atorvastatin","pmid":26857559,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes CC + CT are associated with increased concentrations of atorvastatin in healthy individuals as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815030,"variant_haplotypes":"rs7395555","gene":null,"drugs":"risperidone","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of C alleles present in a patient was negatively associated with CGI-S score.","sentence":"Allele C is associated with increased response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680146,"variant_haplotypes":"rs116551936","gene":null,"drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"yes","notes":"The allele associated with increased response and low frequency is not explicitly stated. Response is increased for carriers of the rare, minor allele. GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation.","sentence":"Genotype AG is associated with increased response to salbutamol in children with Asthma as compared to genotype GG.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757028,"variant_haplotypes":"rs4986893","gene":"CYP2C19","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele G is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6510382","article_title":"VKORC1 and Novel CYP2C9 Variation Predict Warfarin Response in Alaska Native and American Indian People","article_path":"articles/PMC6510382.md","variant_annotation_id":1450370798,"variant_haplotypes":"rs11676382","gene":"GGCX","drugs":"warfarin","pmid":30821933,"phenotype_category":"Dosage","significance":"no","notes":"in Alaska Native and American Indian People.","sentence":"Allele G is not associated with decreased dose of warfarin as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC8426351","article_title":"Influence of FMO3 and CYP3A4 Polymorphisms on the Pharmacokinetics of Teneligliptin in Humans","article_path":"articles/PMC8426351.md","variant_annotation_id":1451503720,"variant_haplotypes":"rs2266782","gene":"FMO3","drugs":"teneligliptin","pmid":34512362,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"effect described for (rs2266780/rs2266782). Significant for clearance, Cmax, and AUC.","sentence":"Genotypes AG + GG is associated with decreased clearance of teneligliptin in men as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC2865873","article_title":"Warfarin pharmacogenetics: a single VKORC1 polymorphism is predictive of dose across 3 racial groups","article_path":"articles/PMC2865873.md","variant_annotation_id":637879838,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":20203262,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6298606","article_title":"Single Nucleotide Variant in Nucleoporin 107 may be Predictive of Sensitivity to Chemotherapy in Patient with Ovarian Cancer","article_path":"articles/PMC6298606.md","variant_annotation_id":1448635633,"variant_haplotypes":"rs79419059","gene":"NUP107","drugs":"Platinum compounds","pmid":28562428,"phenotype_category":"Efficacy","significance":"yes","notes":"In the cohort, 25 patients received carboplatin-based first line therapy and 3 received cisplatin therapy. Controlling for other con-founders, multivariate age-adjusted Cox proportional hazard analysis showed that the variant rs79419059 was significantly associated with platinum resistance [odds ratio: 4.519, 95% confidence interval (CI): 1.317\u201315.501, P = 0.0457].","sentence":"Allele C is associated with increased resistance to Platinum compounds in women with Ovarian Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Ovarian Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451339940,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, CYP2C9*2 allele is associated with 6.8mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"CYP2C9 *1/*2 is associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5859345","article_title":"Evaluation of CYP2C9- and VKORC1-based pharmacogenetic algorithm for warfarin dose in Gaza-Palestine","article_path":"articles/PMC5859345.md","variant_annotation_id":1449262642,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":29568565,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin in people with Cardiovascular Diseases as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC9585281","article_title":"Association of ABCC2 polymorphism with clopidogrel response in Chinese patients undergoing percutaneous coronary intervention","article_path":"articles/PMC9585281.md","variant_annotation_id":1451930254,"variant_haplotypes":"rs4986893","gene":"CYP2C19","drugs":"clopidogrel","pmid":36278153,"phenotype_category":"Efficacy","significance":"yes","notes":"\"CYP2C19*3 GA carriers presented significantly lower mean PAIR% values (66.39 \u00b1 25.68) than CYP2C19*3 GG carriers\". There were only 3 AA individuals.","sentence":"Genotype AG is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002426,"variant_haplotypes":"rs8071253","gene":"TK1","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4100708","article_title":"Secondary metabolism pathway polymorphisms and plasma efavirenz concentrations in HIV-infected adults with CYP2B6 slow metabolizer genotypes","article_path":"articles/PMC4100708.md","variant_annotation_id":1184467530,"variant_haplotypes":"rs28365062","gene":"UGT2B7","drugs":"efavirenz","pmid":24729586,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As measured by increased plasma concentrations in patients with the GG genotype compared to the other genotypes (allele model was not statistically significant, perhaps due to low numbers of patients with the GG genotype). *Note: All participants were CYP2B6 slow metabolizers (defined by the following genotypes of two SNPs: rs3745274 TT, or rs3745274 T/rs28399499 C or rs28399499 CC).*","sentence":"Genotype GG is associated with decreased metabolism of efavirenz in people with HIV Infections as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC6920759","article_title":"Evaluation of the Effect of CYP2D6 Genotypes on Tramadol and O-Desmethyltramadol Pharmacokinetic Profiles in a Korean Population Using Physiologically-Based Pharmacokinetic Modeling","article_path":"articles/PMC6920759.md","variant_annotation_id":1451134168,"variant_haplotypes":"CYP2D6 poor metabolizers and intermediate metabolizers","gene":"CYP2D6","drugs":"o-desmethyltramadol","pmid":31744222,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Note that no statistical analysis was carried out on data from the clinical study. All IMs had the *10/*10 genotype, while all PMs had the *5/*5 genotype. The genotypes of all NMs are not given and the study did not look for CNVs to identify UMs.","sentence":"CYP2D6 intermediate metabolizer and poor metabolizer are associated with decreased concentrations of o-desmethyltramadol in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451105019,"variant_haplotypes":"rs10166942","gene":"TRPM8","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele C is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC1885108","article_title":"Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes","article_path":"articles/PMC1885108.md","variant_annotation_id":982043099,"variant_haplotypes":"rs4149015","gene":"SLCO1B1","drugs":"pravastatin","pmid":16722833,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"2 patients with the AG genotype (who also had rs4149056 genotype TC) had significantly lower plasma Cmax and AUC. This variant was described as -11187G>A.","sentence":"Genotype AG is associated with increased metabolism of pravastatin in children with Hyperlipoproteinemia Type II as compared to genotype GG.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Hyperlipoproteinemia Type II","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5614982","article_title":"Impact of Gastric H+/K+-ATPase rs2733743 on the Intragastric pH-Values of Dexlansoprazole Injection in Chinese Subjects","article_path":"articles/PMC5614982.md","variant_annotation_id":1451136980,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"dexlansoprazole","pmid":29018343,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP2C19*2 (rs4244285), CYP2C19*3 (rs4986893), CYP2C19*17 (rs12248560) were genotyped but only *2 and *3 were identified. CYP2C19 PMs presented a slower elimination and higher exposure (Cmax and AUCPK) compared to CYP2C19 homEMs, while the elimination and exposure of CYP2C19 hetEMs were intermediate between that of PMs and homEMs. In the 30 mg group, CYP2C19 PMs exhibit significantly higher Cmax, AUCPK, and t1/2 than homEMs and presented remarkably higher AUCPK and t1/2 than those of CYP2C19 hetEMs. CYP2C19 hetEMs shows a significantly higher Cmax and AUCPK compared to CYP2C19 homEMs.","sentence":"CYP2C19 *1/*2 + *1/*3 are associated with decreased metabolism of dexlansoprazole in healthy individuals as compared to CYP2C19 *1/*1.","alleles":"*1/*2 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896099,"variant_haplotypes":"rs12729349","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2976715","article_title":"Role of Organic Cation Transporter 3 (SLC22A3) and Its Missense Variants in the Pharmacologic Action of Metformin","article_path":"articles/PMC2976715.md","variant_annotation_id":769180270,"variant_haplotypes":"rs8187725","gene":"SLC22A3","drugs":"catecholamines, metformin","pmid":20859243,"phenotype_category":"Other, Metabolism/PK","significance":"yes","notes":"In cells expressing the T variant, the uptake of these drugs was significantly reduced(about 80%).","sentence":"Allele T is associated with decreased metabolism of catecholamines and metformin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":"and","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5656562","article_title":"CYP3A4 genotype is associated with sildenafil concentrations in patients with heart failure with preserved ejection fraction","article_path":"articles/PMC5656562.md","variant_annotation_id":1449164327,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"sildenafil","pmid":28440343,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"High-dose sildenafil in patients with heart failure with preserved left ventricular ejection fraction. Dose-adjusted peak concentrations were tested at week 12 and 24. p-value for significance was set at p<0.0167. Only significant in the subgroup of Caucasians, not in the whole patient population.","sentence":"CYP3A4 *1/*22 is associated with increased concentrations of sildenafil in people with Heart Failure as compared to CYP3A4 *1/*1.","alleles":"*1/*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6373376","article_title":"Effect of Fluconazole Coadministration and CYP2C9 Genetic Polymorphism on Siponimod Pharmacokinetics in Healthy Subjects","article_path":"articles/PMC6373376.md","variant_annotation_id":1451230861,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"siponimod","pmid":30088221,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"The AUC \u221e and AUC last of siponimod were approximately two and fourfold higher in PMs (CYP2C9*2/*3 and CYP2C9*3/*3), respectively, compared with CYP2C9 EMs (CYP2C9*1/*1). The siponimod plasma T\u00bd was also prolonged in subjects with the CYP2C9*2/*3 and CYP2C9*3/*3 genotypes (50.9 and 126 h, respectively) compared with EMs (CYP2C9*1/*1: 28.1 h), suggesting that the reduced CYP2C9 enzymatic activity does not affect the absorption phase of siponimod but prolongs the elimination phase.","sentence":"CYP2C9 *2/*3 + *3/*3 are associated with increased concentrations of siponimod in healthy individuals as compared to CYP2C9 *1/*1.","alleles":"*2/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5373543","article_title":"Pharmacogenomics study on cadherin 2 network with regard to HIV infection and methadone treatment outcome","article_path":"articles/PMC5373543.md","variant_annotation_id":1448995530,"variant_haplotypes":"rs8094439","gene":"CDH2","drugs":"methadone","pmid":28358908,"phenotype_category":"Efficacy","significance":"yes","notes":"Association between SNP and response to methadone is not directly shown in the paper. Genotype AA is associated with increased concentrations of CDH2 in plasma and individuals with increased CDH2 levels had an improved response to methadone treatment (p=0.005).","sentence":"Genotype AA is associated with increased response to methadone as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10970167","article_title":"PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis","article_path":"articles/PMC10970167.md","variant_annotation_id":1452433697,"variant_haplotypes":"rs12745871","gene":"PDE4B","drugs":"apremilast","pmid":38540428,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Allele-based association tests detected 64 SNPs displaying nominal p values < 0.05 (Table 2) including 10 SNPs with p values \u2264 0.01. \" Table 2 shows frequency of minor allele is responders and non-responders. Responder status maybe defined by PASI score improvement greater than 75% after 24\u201336 weeks of treatment.","sentence":"Allele T is associated with increased clinical benefit to apremilast in people with Psoriasis as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436965,"variant_haplotypes":"rs3850736","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 6E-7.","sentence":"Allele G is not associated with clearance of tenofovir in people with HIV Infections as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896221,"variant_haplotypes":"rs74546197","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11666798","article_title":"Influence of CYP2C8*3 and ABCG2 C421A genetic polymorphisms on trough concentration and molecular response of imatinib in Egyptian patients with chronic myeloid leukemia","article_path":"articles/PMC11666798.md","variant_annotation_id":1452798983,"variant_haplotypes":"rs11572080","gene":"CYP2C8","drugs":"imatinib","pmid":39714624,"phenotype_category":"Efficacy","significance":"no","notes":"Alleles complemented. There were no TT homozygotes. \"Assessment of molecular response to imatinib based on the BCR-ABL1 transcript level at 12 months. Responders (n\u2009=\u200926); Non-responders (n\u2009=\u200924). \" \"No statistically significant difference was found between the frequency of GG and GA genotypes of CYP2C8*3 in the two groups (p\u2009=\u20090.1902). \"","sentence":"Genotype CT is not associated with decreased clinical benefit to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5425333","article_title":"Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta\u2010Analysis","article_path":"articles/PMC5425333.md","variant_annotation_id":1448631772,"variant_haplotypes":"rs2252281","gene":"SLC47A1","drugs":"metformin","pmid":27859023,"phenotype_category":"Efficacy","significance":"no","notes":"This variant is not associated with metformin glycemic response assessed as HbA1c reduction in patients on metformin monotherapy.","sentence":"Allele C is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2291274","article_title":"The CYP2D6 polymorphism in relation to the metabolism of amitriptyline and nortriptyline in the Faroese population","article_path":"articles/PMC2291274.md","variant_annotation_id":1446903476,"variant_haplotypes":"CYP2D6*4","gene":"CYP2D6","drugs":"amitriptyline","pmid":17764479,"phenotype_category":"Dosage","significance":"no","notes":"The study reports on CYP2D6PM (5) compared to EM (18, only phenotypically characterized) but diplotype was only reported for PM. 5 PMs (genotype as *4/*4) were included in the study.","sentence":"CYP2D6 *4/*4 (assigned as poor metabolizer phenotype) is not associated with dose of amitriptyline as compared to CYP2D6 normal metabolizer.","alleles":"*4/*4","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3984266","article_title":"Germline Variation in Colorectal Risk Loci Does Not Influence Treatment Effect or Survival in Metastatic Colorectal Cancer","article_path":"articles/PMC3984266.md","variant_annotation_id":1446895530,"variant_haplotypes":"rs4779584","gene":null,"drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":24727911,"phenotype_category":"Efficacy","significance":"no","notes":"SNPs were investigated for their effects on response rate, time to progression and overall survival. After accounting for multiple testing there was no association with any SNPs and outcomes of patients with metastatic colorectal cancer.","sentence":"Allele T is not associated with response to fluorouracil, irinotecan and oxaliplatin in people with Colorectal Neoplasms and Neoplasm Metastasis as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms, Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6462825","article_title":"Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort","article_path":"articles/PMC6462825.md","variant_annotation_id":1449164073,"variant_haplotypes":"rs2501873","gene":"NR1I3","drugs":"warfarin","pmid":29298995,"phenotype_category":"Dosage","significance":"no","notes":"Warfarin dose requirement was defined as the reported daily dose at 3 months following treatment initiation.","sentence":"Allele C is not associated with dose of warfarin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5898372","article_title":"Genotypic and Phenotypic Factors Influencing Drug Response in Mexican Patients With Type 2 Diabetes Mellitus","article_path":"articles/PMC5898372.md","variant_annotation_id":1449310666,"variant_haplotypes":"rs5215","gene":"KCNJ11","drugs":"sulfonamides, urea derivatives","pmid":29681852,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to sulfonamides, urea derivatives in people with Diabetes Mellitus as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4949007","article_title":"CYP2D6 function moderates the pharmacokinetics and pharmacodynamics of 3,4-methylene-dioxymethamphetamine in a controlled study in healthy individuals","article_path":"articles/PMC4949007.md","variant_annotation_id":1448109250,"variant_haplotypes":"CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*9, CYP2D6*10, CYP2D6*41","gene":"CYP2D6","drugs":"3,4-methylenedioxymethamphetamine","pmid":27253829,"phenotype_category":"Efficacy","significance":"yes","notes":"Elevations in systolic blood pressure were greater in PMs compared with IMs (P = 0.02, *4/*10(6) *4/*41(4) *5/*10(2) *5/*41(1) *10/*41(4) *10/*10(1) *4/*9 (1)) and EMs (P = 0.01, *1/*3(2) *1/*6(2) *2/*4(15) *2/*5(1) *9/*10(2); *1/*41(4) *1/*10(2) *1/*9(3) *2/*10(3) *2/*41(5); *1/*1(22) *1/*2(23) *2/*2(16) *1/*4 (11)) at 0.6 h (F2,135 = 3.50, P = 0.03) and also tended to be greater at 1 h (F2,135 = 2.49, P = 0.09).","sentence":"CYP2D6 *4/*4 + *3/*5 is associated with increased response to 3,4-methylenedioxymethamphetamine as compared to CYP2D6 *4/*10 + *4/*41 + *5/*10 + *5/*41 + *10/*41 + *10/*10 + *4/*9 (assigned as intermediate metabolizer phenotype) .","alleles":"*4/*4 + *3/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*4/*10 + *4/*41 + *5/*10 + *5/*41 + *10/*41 + *10/*10 + *4/*9","comparison_metabolizer_types":"intermediate metabolizer"} +{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356707,"variant_haplotypes":"rs17561","gene":"IL1A","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3729209","article_title":"CYP2B6 and bupropion\u2019s smoking cessation pharmacology: the role of hydroxybupropion","article_path":"articles/PMC3729209.md","variant_annotation_id":1445403153,"variant_haplotypes":"CYP2B6*1, CYP2B6*4, CYP2B6*5, CYP2B6*6, CYP2B6*18, CYP2B6*22","gene":"CYP2B6","drugs":"bupropion","pmid":23149928,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Light smokers. Individuals with one copy of a reduced function allele (*6, *18) were grouped into the \"intermediate metabolizer\" group. The genotypes within this group were *1/*6 (n=53), *1/*18 (n=8), *1/*6 + *1/*5 (compound heterozygote; n=1), *1/*6 + *1/*22 (compound heterozygote; n=2). Individuals with *1/*1 (n=48), *1/*4 (n=1), *1/*5 (n=4), *1/*22 (n=4), and *22/*22 (n=1) genotype were considered normal metabolizers. Intermediate metabolizers had decreased hydroxybupropion/bupropion ratios as compared to normal metabolizers. No significant result was seen when considering bupropion levels (p=0.056) or hydroxybupropion levels (p=0.052).","sentence":"CYP2B6 *1/*6 + *1/*18 is associated with decreased metabolism of bupropion in people with Tobacco Use Disorder as compared to CYP2B6 *1/*1 + *1/*4 + *1/*5 + *1/*22 + *22/*22.","alleles":"*1/*6 + *1/*18","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*4 + *1/*5 + *1/*22 + *22/*22","comparison_metabolizer_types":null} +{"pmcid":"PMC11773116","article_title":"Exploring the contribution of genetic variants to high sunitinib exposure in patients with cancer","article_path":"articles/PMC11773116.md","variant_annotation_id":1452564140,"variant_haplotypes":"rs6923761","gene":"GLP1R","drugs":"sunitinib","pmid":39107874,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Only 1 marker reached genome-wide statistical significance, rs6923761 (chromosome 6; P = 7.86 \u0003 10\u000419), located in the glucagon-like peptide 1 receptor (GLP1R) gene. This SNV had a MAF of 0.3 and an effect size \u03b2M of \u00043.18 (odds ratio 0.04), suggesting that carriers of this variant allele have a decreased sunitinib concentration. \"","sentence":"Allele A is associated with decreased concentrations of sunitinib in people with Carcinoma, Renal Cell or Gastrointestinal Stromal Tumors as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Renal Cell Carcinoma, Other:Gastrointestinal Stromal Tumors","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5871545","article_title":"Variants in the CYP2B6 3\u2032UTR alter in vitro and in vivo CYP2B6 activity: potential role of microRNAs","article_path":"articles/PMC5871545.md","variant_annotation_id":1448997614,"variant_haplotypes":"rs1042389","gene":"CYP2B6","drugs":"efavirenz","pmid":28960269,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The rs70950385 and rs1042389 variants were in complete linkage disequilibrium (r2=1, D\u2019=1).","sentence":"Genotype TT is associated with decreased metabolism of efavirenz in healthy individuals as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928233,"variant_haplotypes":"rs3803300","gene":"AKT1","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to risperidone in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1448613466,"variant_haplotypes":"rs4148323","gene":"UGT1A1","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with AUC, AUC0-12 when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together. Only P-values for AUC presented here.","sentence":"Allele G is not associated with metabolism of selumetinib in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5871545","article_title":"Variants in the CYP2B6 3\u2032UTR alter in vitro and in vivo CYP2B6 activity: potential role of microRNAs","article_path":"articles/PMC5871545.md","variant_annotation_id":1448997604,"variant_haplotypes":"rs7246465","gene":"CYP2B6","drugs":"efavirenz","pmid":28960269,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"An increase in CYP2B6 activity was also seen among volunteers carrying the rs7246465 variant allele (C/C vs. C/T [38.0% increase; p<0.01] and T/T [67.9% increase; p<0.0001])\".","sentence":"Genotypes CT + TT are associated with increased metabolism of efavirenz in healthy individuals as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161360,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"methadone","pmid":21589866,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in genotype or phenotype frequencies between responders and non-responders, as defined by drug misuse during methadone maintenance therapy. No details about which specific variants/alleles were tested for.","sentence":"CYP3A5 *3/*3 is not associated with response to methadone in people with Opioid-Related Disorders as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC4116670","article_title":"OCT1 genetic variants influence the pharmacokinetics of morphine in children","article_path":"articles/PMC4116670.md","variant_annotation_id":1451097460,"variant_haplotypes":"rs12208357","gene":"SLC22A1","drugs":"morphine","pmid":23859569,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Children with two loss of function SLC22A1 alleles (*2 rs72552763 GAT>del, *3 rs12208357C>T, *4 rs34130495 G>A, or *5 rs34059508 G>A) were grouped together and had significantly lower clearance compared to children with the *1/*1 or *1/variant genotype.","sentence":"Genotype TT is associated with decreased clearance of morphine in children with adenotonsillectomy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:adenotonsillectomy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4595504","article_title":"ITPA Polymorphisms Are Associated with Hematological Side Effects during Antiviral Therapy for Chronic HCV Infection","article_path":"articles/PMC4595504.md","variant_annotation_id":1446905582,"variant_haplotypes":"rs7270101","gene":"ITPA","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":26441325,"phenotype_category":"Efficacy","significance":"no","notes":"The authors actually compared platelet counts between patients with normal or deficient ITPase activity. Patients with the composite genotypes of rs1127354 CC and rs7270101 AA had \"normal ITPase activity\" and all other genotype combinations were classified as \"deficient\". Univariable logistic regression normal ITPase activity was not significantly associated with virological relapse.","sentence":"Genotype AA is not associated with response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4735517","article_title":"Genome-Wide Meta-Analysis of Cotinine Levels in Cigarette Smokers Identifies Locus at 4q13.2","article_path":"articles/PMC4735517.md","variant_annotation_id":1447814235,"variant_haplotypes":"rs588765","gene":"CHRNA5","drugs":"cotinine","pmid":26833182,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The authors conducted a GWAS meta-analysis to identify genetic variants associated with cotinine in current daily smokers (Caucasian). The following study cohorts were analyzed: ALSPAC, CARDIA, FinnTwin, Framingham, GenMets, MESA, NESDA, NTR, TwinsUK, YFS.","sentence":"Allele C is not associated with concentrations of cotinine in people with Tobacco Use Disorder as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5611711","article_title":"Influence of genetic variants on renal uric acid handling in response to frusemide: an acute intervention study","article_path":"articles/PMC5611711.md","variant_annotation_id":1449001719,"variant_haplotypes":"rs11942223","gene":"SLC2A9","drugs":"furosemide","pmid":28951782,"phenotype_category":"Efficacy","significance":"no","notes":"There was no difference in either the absolute values of serum urate, nor in fractiona excretion of uric acid over the study period between those carrying the C allele versus those that did not.","sentence":"Allele C is not associated with response to furosemide in healthy individuals as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3625373","article_title":"The Missing Association: Sequencing-Based Discovery of Novel SNPs in VKORC1 and CYP2C9 That Affect Warfarin Dose in African Americans","article_path":"articles/PMC3625373.md","variant_annotation_id":769245704,"variant_haplotypes":"rs61162043","gene":"VKORC1","drugs":"warfarin","pmid":21270790,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele G is associated with increased dose of warfarin.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166094,"variant_haplotypes":"rs2295490","gene":"TRIB3","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele G is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11755583","article_title":"ABCB1 Polymorphism Is Associated with Higher Carbamazepine Clearance in Children","article_path":"articles/PMC11755583.md","variant_annotation_id":1452827220,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"carbamazepine","pmid":39846525,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Alleles complemented. \"Our main finding was that the presence of the ABCB1 1236T-2677T-3435T haplotype was associated with an increased clearance of CBZ in children. \" \"rs1128503 (1236C>T)\"","sentence":"Allele A is associated with increased clearance of carbamazepine in children with Epilepsy as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954083,"variant_haplotypes":"rs228666","gene":"PER3","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4915265","article_title":"Variation in Dopamine D2 and Serotonin 5-HT2A Receptor Genes is Associated with Working Memory Processing and Response to Treatment with Antipsychotics","article_path":"articles/PMC4915265.md","variant_annotation_id":1447813735,"variant_haplotypes":"rs1076560","gene":"DRD2","drugs":"olanzapine","pmid":25563748,"phenotype_category":"Efficacy","significance":"yes","notes":"The associations were evaluated in conjunction with rs6314 in the HTR2A gene. rs1076560 GT/rs6314 CC diplotype was associated with better responses to antipsychotics than the rs1076560 GG/rs6314 CT diplotype","sentence":"Genotypes AA + AC is associated with increased response to olanzapine in people with Schizophrenia as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC10196221","article_title":"Genetic variants influenced the risk of bleeding and pharmacodynamics of rivaroxaban in patients with nonvalvular atrial fibrillation: A multicentre prospective cohort study","article_path":"articles/PMC10196221.md","variant_annotation_id":1452107207,"variant_haplotypes":"rs4553122","gene":"NCMAP","drugs":"rivaroxaban","pmid":37203300,"phenotype_category":"Toxicity","significance":"no","notes":"as measured by peak anti\u2010FXa level. Association described as \"suggestive\". \"The incidence of bleeding events were significantly related to the peak anti\u2010FXa level, which were significantly increased in patients with bleeding events than in those without\"","sentence":"Allele C is associated with increased response to rivaroxaban in people with Atrial Fibrillation as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC10967865","article_title":"Impact of Pharmacogenetic Testing on Clozapine Treatment Efficacy in Patients with Treatment-Resistant Schizophrenia","article_path":"articles/PMC10967865.md","variant_annotation_id":1452435401,"variant_haplotypes":"rs6314","gene":"HTR2A","drugs":"clozapine","pmid":38540209,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. \"When investigating whether the psychopathology scales were different in carriers of HTR2A rs6314 allele, we observed several significant associations with the scores on PANSS-positive (p = 0.013). Specifically, the allele T (mutant variant) was associated with greater reduction in positive symptoms scores that could be related with better response. Only one patient presented the T/T (Tyr452/Tyr452) genotype and there were 14 patients with C/T (His452/Tyr452) heterozygosity. Those with the C/T genotype showed lower values on the scales of psychotic symptomatology compared to the C/C (His452/His452) homozygotes patients (p = 0.051).\"","sentence":"Genotypes AA + AG is associated with increased clinical benefit to clozapine in people with Schizophrenia as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10381361","article_title":"Pilot Study: Personalized Medicine in Endoscopy, Can Pharmacogenomics Predict Response to Conscious Sedation?","article_path":"articles/PMC10381361.md","variant_annotation_id":1452197220,"variant_haplotypes":"CYP2C19 poor metabolizers and intermediate metabolizers","gene":"CYP2C19","drugs":"fentanyl, meperidine, midazolam","pmid":37511720,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Patients were divided into two groups based on sedation requirements during endoscopy (high vs. normal sedation). The high sedation requirement group was defined by a sedation requirement of midazolam >10 mg, fentanyl >100 mcg, meperidine >100 mg, or an aborted procedure due to failed moderate sedation and/or the transition to propofol sedation to complete the procedure. The normal sedation requirement group was defined as the complete absence of the above conditions that define the high sedation requirement group.\" \"Patients with reduced CYP2C19 metabolism (poor + intermediate metabolizers) (OR = 0.38, 95% CI: 0.16\u20130.91, p = 0.03), poor CYP3A5 metabolism (OR = 0.25, 95% CI: 0.095\u20130.65, p = 0.0046), and poor UGT1A1 (OR = 2.76, 95% CI: 1.07\u20137.13, p = 0.08) had higher odds of requiring normal sedation compared to those with CYP2C19 increased metabolism, CYP3A5 intermediate metabolism, and UGT1A1 intermediate metabolism\"","sentence":"CYP2C19 poor metabolizers and intermediate metabolizers is associated with decreased dose of fentanyl, meperidine or midazolam in people with sedation as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:sedation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC2812115","article_title":"CYP2C9*1B Promoter Polymorphisms, in Linkage with CYP2C19*2, Affect Phenytoin Autoinduction of Clearance and Maintenance Dose","article_path":"articles/PMC2812115.md","variant_annotation_id":769250174,"variant_haplotypes":"rs12782374","gene":"CYP2C9","drugs":"warfarin","pmid":19855097,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"after excluding those patients carrying CYP2C9*2, *3, and VKORC1 variant; alleles.","sentence":"Allele A is not associated with dose of warfarin in people with stable INRs in target range of 2-3 as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:stable INRs in target range of 2-3","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995815,"variant_haplotypes":"rs2236416","gene":"MMP9","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699026,"variant_haplotypes":"rs10735239","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4038024","article_title":"CYP3A5 Gene Variation Influences both Systemic and Intrarenal Tacrolimus Disposition","article_path":"articles/PMC4038024.md","variant_annotation_id":1183690021,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":23073208,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Healthy individuals with the CT or TT (CYP3A5 *1/*3 or *1/*1) genotype had 1.6-fold higher oral tacrolimus clearance and 2.0 - 2.7-fold higher metabolite/parent area under the curve (AUC) ratios for 31-desmethyl tacrolimus (31-DMT), 12-hydroxytacrolimus, and 13-desmethyl tacrolimus (13-DMT), as compared to individuals with the CC (*3/*3) genotype. Subjects who carry two copies of loss-of-function CYP3A5 alleles (CYP3A5*3, CYP3A5*6/rs10264272 or CYP3A5*7/rs41303343) were pooled together as CYP3A5 non-expressors for this analysis. CYP3A5 *1 allele carriers were pooled togethers as CYP3A5 expressors.","sentence":"Genotypes CT + TT is associated with increased clearance of tacrolimus in healthy individuals as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183698994,"variant_haplotypes":"rs496503","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5319785","article_title":"Genome-wide study of resistant hypertension identified from electronic health records","article_path":"articles/PMC5319785.md","variant_annotation_id":1448612748,"variant_haplotypes":"rs13144136","gene":"CLNK","drugs":"Antihypertensives","pmid":28222112,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele G is associated with increased response to Antihypertensives in people with Hypertension as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC11717999","article_title":"Influence of ABCB1 polymorphisms on aripiprazole and dehydroaripiprazole plasma concentrations","article_path":"articles/PMC11717999.md","variant_annotation_id":1452808180,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"aripiprazole, dehydroaripiprazole","pmid":39789135,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"Regarding ARI/DHA ratio, significant differences between the different variants were observed in the three SNPs analyzed. Specifically, for C3434T it was obtained an ARI/DHA ratio 37.4% higher for CC (2.35) compared to the TT variant (1.71), for G2677T 93% higher for GG (3.27) vs TT (1.69) and for C1236T 64.2% higher for CC (2.93) vs TT (1.78) (Fig. 1A). Comparing Non-T carriers vs. T carriers variants as a whole, yielded 22.3%, 70.07% and 47.43% more respectively, maintaining statistical significance (Fig. 1B).\" \"For ABCB1, the following variants were analyzed: C3435T (rs1045642), C2677 T/A (rs2032582) and C1236T (rs1128503).\"","sentence":"Genotype CC is associated with increased concentrations of aripiprazole and dehydroaripiprazole as compared to genotype AA.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC8373649","article_title":"SNPs in PRKG1 and SPATA13-AS1 are associated with bronchodilator response: A pilot study during acute asthma exacerbations in African American children","article_path":"articles/PMC8373649.md","variant_annotation_id":1451927546,"variant_haplotypes":"rs7081864","gene":null,"drugs":"salbutamol","pmid":33851947,"phenotype_category":"Efficacy","significance":"yes","notes":"rs7903366 was significantly negatively associated with having a high bronchodilator response category in an adjusted analysis. Risk allele not explicit stated in text only in table 1 summarizing prior studies.","sentence":"Allele A is associated with decreased response to salbutamol in children with Asthma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC9610285","article_title":"Polymorphism of Drug Transporters, Rather Than Metabolizing Enzymes, Conditions the Pharmacokinetics of Rasagiline","article_path":"articles/PMC9610285.md","variant_annotation_id":1451928620,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"rasagiline","pmid":36297437,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"lower Vd/F and Cl/F and higher AUC0-\u221e/DW were significant and Vd/F remained significant after Bonferroni.","sentence":"Genotypes AA + AG is associated with decreased clearance of rasagiline in healthy individuals as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC9536193","article_title":"Germline Polymorphisms as Biomarkers of Tumor Response in Colorectal Cancer Patients Treated with Anti-EGFR Monoclonal Antibodies: A Systematic Review and Meta-Analysis","article_path":"articles/PMC9536193.md","variant_annotation_id":1449165380,"variant_haplotypes":"rs396991","gene":"FCGR3A","drugs":"cetuximab, panitumumab","pmid":27897268,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis with 15 studies. The authors did not provide the exact number of patients but stated that \"the median number of patients per analysis was 110 (range 50 - 740)\". Most definitions of response were variations of the RECIST criteria. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2911553","article_title":"CYP4F2 rs2108622: a minor significant genetic factor of warfarin dose in Han Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC2911553.md","variant_annotation_id":981483987,"variant_haplotypes":"rs7294","gene":"VKORC1","drugs":"warfarin","pmid":20653676,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":null,"sentence":"Genotypes CT + TT are associated with increased dose of warfarin in people with mechanical heart valve replacement as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:mechanical heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928312,"variant_haplotypes":"rs9606186","gene":"COMT","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC1474035","article_title":"Variation in the Gene Encoding the Serotonin 2A Receptor Is Associated with Outcome of Antidepressant Treatment","article_path":"articles/PMC1474035.md","variant_annotation_id":1452040215,"variant_haplotypes":"rs6313","gene":"HTR2A","drugs":"citalopram","pmid":16642436,"phenotype_category":"Efficacy","significance":"no","notes":"Remitters achieved a QIDS-C score of <= 5 at the last treatment visit; probable remitters achieved a score of 6 or 7. Non- remitters had a QIDS-C16 score of >= 10 at the last visit. Those with a final QIDS-C16 score in the borderline range of 8 and 9 were excluded from analysis. Responders achieved at least a 50% reduction in base- line QIDS-C16 at the last treatment visit; probable respond- ers achieved a 45%\u201350% reduction. Nonresponders did not achieve even a 40% reduction in baseline QIDS-C score at the last treatment visit. Those with a reduction in QIDS-C16 in the borderline range of 40%\u201345% were excluded from analysis.","sentence":"Allele A is not associated with response to citalopram in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5901893","article_title":"Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC5901893.md","variant_annotation_id":1450930500,"variant_haplotypes":"rs16872401","gene":null,"drugs":"hydrochlorothiazide","pmid":29650764,"phenotype_category":"Efficacy","significance":"yes","notes":"The C allele was associated with an increased systolic blood pressure response to hydrochlorothiazide.","sentence":"Allele C is associated with increased response to hydrochlorothiazide in people with Hypertension as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC8222836","article_title":"Genetic variants related to successful migraine prophylaxis with verapamil","article_path":"articles/PMC8222836.md","variant_annotation_id":1452315166,"variant_haplotypes":"rs3733694","gene":"PCDHB8","drugs":"verapamil","pmid":33829662,"phenotype_category":"Efficacy","significance":"yes","notes":"\"There are 3 highly significant SNPs (p\u2010value < 0.008) in both the arithmetic and percentage change models: rs2230433 within the Integrin Subunit Alpha L gene (ITGAL) [OMIM#153370], rs17844444 in Protocadherin Beta 6 gene (PCDHB6) [OMIM#606332] and rs3733694 in Protocadherin Beta 7 gene (PCDHB7) [OMIM#606333].\" \"rs17844444 (PCDHB6) and rs3733694 (PCDHB7), the minor alleles predicted non\u2010response to verapamil.\"","sentence":"Allele G is associated with decreased clinical benefit to verapamil in people with Migraine NOS as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981731560,"variant_haplotypes":"rs4149601","gene":"NEDD4L","drugs":"atenolol","pmid":23353631,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to atenolol in people with Hypertension as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4479596","article_title":"Effect of CYP2B6 Gene Polymorphisms on Efavirenz Plasma Concentrations in Chinese Patients with HIV Infection","article_path":"articles/PMC4479596.md","variant_annotation_id":1448997129,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":26107645,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes GT + TT are associated with increased concentrations of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4731723","article_title":"TOLLIP, MUC5B, and the Response to N-Acetylcysteine among Individuals with Idiopathic Pulmonary Fibrosis","article_path":"articles/PMC4731723.md","variant_annotation_id":1447982696,"variant_haplotypes":"rs5743854","gene":"TOLLIP","drugs":"acetylcysteine","pmid":26331942,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical endpoints included death, transplant, hospitalization, or FVC decline, and risk was adjusted for age, sex, prednisone use, azathioprine use, FVC, diffusion capacity of the lung, and trial/center. Alleles given on reverse strand A and G.","sentence":"Genotype CC is not associated with response to acetylcysteine in people with Pulmonary Fibrosis as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pulmonary Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896123,"variant_haplotypes":"rs6889896","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele T is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5386607","article_title":"Association of the PPP3CA c.249G>A variant with clinical outcomes of tacrolimus-based therapy in kidney transplant recipients","article_path":"articles/PMC5386607.md","variant_annotation_id":1448819442,"variant_haplotypes":"rs3730251","gene":"PPP3CA","drugs":"tacrolimus","pmid":28435308,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association was found between this variant and dose, concentration or dose-adjusted concentration of tacrolimus. The authors do not show the data underlying these results in the paper. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT is not associated with exposure to tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5306247","article_title":"Impact of CYP3A4*1G Allele on Clinical Pharmacokinetics and Pharmacodynamics of Clopidogrel","article_path":"articles/PMC5306247.md","variant_annotation_id":1450824004,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"clopidogrel","pmid":26891871,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in concentrations of clopidogrel or its metabolites between genotype groups. The publication reports the finding for CYP3A4*1G. PharmVar re-assigned CYP3A4*1G to CYP3A4*36. Previously, this annotation used CYP3A4*36 which has been retired by PharmVar. All references to *36 have been replaced by rs2242480 alleles.","sentence":"Genotype C/T is not associated with metabolism of clopidogrel in people with Coronary Artery Disease as compared to genotype C/C.","alleles":"C/T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C/C","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896093,"variant_haplotypes":"rs16871297","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3414671","article_title":"Naltrexone Modification of Drinking Effects in a Sub-Acute Treatment and Bar-Lab Paradigm: Influence of OPRM1 and Dopamine Transporter (SCL6A3) Genes","article_path":"articles/PMC3414671.md","variant_annotation_id":1449161179,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"naltrexone","pmid":22551036,"phenotype_category":"Efficacy","significance":"no","notes":"It should be noted that no overall effect of naltrexone treatment on alcohol consumption was observed. The authors suggest that this may be due to differences in the study cohort, bias or a type II error.","sentence":"Allele A is not associated with response to naltrexone in people with Alcoholism as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6289816","article_title":"Diplotype analysis of NUDT15 variants and 6-mercaptopurine sensitivity in pediatric lymphoid neoplasms","article_path":"articles/PMC6289816.md","variant_annotation_id":1449750346,"variant_haplotypes":"NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*5, NUDT15*6","gene":"NUDT15","drugs":"mercaptopurine","pmid":29967377,"phenotype_category":"Dosage, Toxicity","significance":"no","notes":"Doses were adjusted to give maintain a leukocyte count of 1500\u20133000 /\u00b5l. Mean dose for *1/*1, *1/*2, *1/*5 or *1/*6 was approximately 40mg/m2, and for *1/*3 was approx 20mg/m2 and for *3/*3 and *3/*5 was approx 5mg/m2.","sentence":"NUDT15 *1/*3 is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to NUDT15 *1/*1 + *1/*5 + *1/*6 + *1/*2.","alleles":"*1/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*5 + *1/*6 + *1/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC524175","article_title":"Single nucleotide polymorphisms in the apolipoprotein B and low density lipoprotein receptor genes affect response to antihypertensive treatment","article_path":"articles/PMC524175.md","variant_annotation_id":655387074,"variant_haplotypes":"rs1367117","gene":"APOB","drugs":"irbesartan","pmid":15453913,"phenotype_category":"Efficacy","significance":"yes","notes":"reduction in systolic blood pressure. Treatment was with 150 mg/day for 12 weeks. The dose was doubled; after six weeks if the diastolic blood pressure was >= 90; mmHg.; Avg reduction in G carriers was 14 mm Hg.","sentence":"Genotype GG is associated with response to irbesartan in people with Hypertension.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2750008","article_title":"A single tumour necrosis factor haplotype influences the response to adalimumab in rheumatoid arthritis","article_path":"articles/PMC2750008.md","variant_annotation_id":1444693787,"variant_haplotypes":"rs1799724","gene":"TNF","drugs":"adalimumab","pmid":17673491,"phenotype_category":"Efficacy","significance":"yes","notes":"When in a haplotype with rs1800629 and rs361525. Response defined as a 50% percent response to adalimumab therapy according to the American College of Rheumatology criteria (ACR50 responders) at week 12 after treatment initiation. Those homozygous for the GGC (rs361525-rs1800629-rs1799724) haplotype had a significantly lower ACR50 response rate as compared to subjects with any other diplotype (see paper for diplotypes present in population). This effect was more important in a subgroup of patients receiving concomitant methotrexate.","sentence":"Genotype CC is associated with decreased response to adalimumab in people with Arthritis, Rheumatoid.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4735517","article_title":"Genome-Wide Meta-Analysis of Cotinine Levels in Cigarette Smokers Identifies Locus at 4q13.2","article_path":"articles/PMC4735517.md","variant_annotation_id":1447814223,"variant_haplotypes":"rs16969968","gene":"CHRNA5","drugs":"cotinine","pmid":26833182,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors conducted a GWAS meta-analysis to identify genetic variants associated with cotinine in current daily smokers (Caucasian). The following study cohorts were analyzed: ALSPAC, CARDIA, FinnTwin, Framingham, GenMets, MESA, NESDA, NTR, TwinsUK, YFS. This SNP was re-analyzed because of previous evidence demonstrating association with smoking quantity. It was also significantly associated with cotinine levels in the meta-analysis.","sentence":"Allele A is associated with increased concentrations of cotinine in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3611944","article_title":"Pharmacogenetic association with early response to intravitreal ranibizumab for age-related macular degeneration in a Korean population","article_path":"articles/PMC3611944.md","variant_annotation_id":1183682073,"variant_haplotypes":"rs833069","gene":"VEGFA","drugs":"ranibizumab","pmid":23559864,"phenotype_category":"Efficacy","significance":"yes","notes":"Age-related macular degeneration. Patients with the CC or CT genotype had greater decreases in central subfield macular thickness (CSMT) between baseline and 3 or 6 months of treatment, as compared to those with the TT genotype. This indicates a better visual outcome. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CT are associated with increased response to ranibizumab in people with Macular Degeneration as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954045,"variant_haplotypes":"rs3736544","gene":"CLOCK","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6493603","article_title":"Effects of SCN1A and GABA Receptor Genetic Polymorphisms on Carbamazepine Tolerability and Efficacy in Chinese Patients with Partial Seizures: 2\u2010Year Longitudinal Clinical Follow\u2010Up","article_path":"articles/PMC6493603.md","variant_annotation_id":982023290,"variant_haplotypes":"rs2290732","gene":"GABRA1","drugs":"carbamazepine","pmid":22591328,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AA and AG genotypes have increased tolerability to carbamazepine. Tolerability was assessed by retention rates, or the proportion of patients that continued to take carbamazepine for seizures over the previous 3 months. Patients were assessed every 3 months for 24 months. The retention rates for the AA + AG genotypes were significantly greater than the retention rate for the GG genotype during months 9 - 24 of treatment.","sentence":"Genotypes AA + AG are associated with increased response to carbamazepine in people with Epilepsy as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC9891445","article_title":"Effects of genetic polymorphisms on methotrexate levels and toxicity in Chinese patients with acute lymphoblastic leukemia","article_path":"articles/PMC9891445.md","variant_annotation_id":1452009006,"variant_haplotypes":"rs3788200","gene":"SLC19A1","drugs":"methotrexate","pmid":36742186,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"at 24 hours.","sentence":"Genotypes AG + GG is associated with increased concentrations of methotrexate in people with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4183989","article_title":"Genetic variant in folate homeostasis is associated with lower warfarin dose in African Americans","article_path":"articles/PMC4183989.md","variant_annotation_id":1184512419,"variant_haplotypes":"rs7856096","gene":"FPGS","drugs":"warfarin","pmid":25079360,"phenotype_category":"Dosage","significance":"yes","notes":"In the discovery cohort the uncorrected p-value was 1.82E-8. P-values were adjusted using Bonferroni correction, with a significance cutoff of 3.22E-7 based on the 155,186 SNPs tested in the discovery cohort.","sentence":"Allele G is associated with decreased dose of warfarin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4335884","article_title":"Pharmacokinetics and Safety of Voriconazole Intravenous-to-Oral Switch Regimens in Immunocompromised Japanese Pediatric Patients","article_path":"articles/PMC4335884.md","variant_annotation_id":1445584831,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":25451051,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Patients were being switched from intravenous (IV) to oral voriconazole. 20 patients were present for the IV portion, and 18 for the oral portion. In both the IV and oral treatment groups, those who were CYP2C19 poor metabolizers (PM; n=2; *2/*2, *2/*3 or *3/*3 genotype) had the highest area under the curve over dosing interval at steady state (AUC0-12,ss), peak plasma concentration at steady state (Cmax, ss) and trough plasma concentration at steady state (Cmin, ss), followed by heterozygous extensive metabolizers (HEM; n=10; *1/*2 or *1/*3) and then extensive metabolizers (EM; n=8 for IV and n=6 for oral; *1/*1 or *1/*17). That is, PM > HEM > EM for AUC0-12, Cmax and Cmin. Concordant results were also found when considering the N-oxide metabolite/voriconazole ratio of AUC0-12,ss, with PMs having the lowest ratio, followed by HEMs and then EMs. However: 1) no statistical analyses were done on these differences, 2) the authors do not state whether each of these genotypes were actually present in the population, and 3) the authors state that there was substantial overlap in voriconazole concentrations between the EM and HEM groups.","sentence":"CYP2C19 *1/*2 + *1/*3 + *2/*2 + *2/*3 + *3/*3 is associated with increased concentrations of voriconazole in children as compared to CYP2C19 *1/*1 + *1/*17 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*3 + *2/*2 + *2/*3 + *3/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC2564574","article_title":"Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation","article_path":"articles/PMC2564574.md","variant_annotation_id":982044349,"variant_haplotypes":"rs2359612","gene":"VKORC1","drugs":"warfarin","pmid":16611750,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele G is associated with increased dose of warfarin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4931885","article_title":"Population Pharmacokinetics of Oral Topotecan in Infants and Very Young Children with Brain Tumors Demonstrates a Role of ABCG2 rs4148157 on the Absorption Rate Constant","article_path":"articles/PMC4931885.md","variant_annotation_id":1447981305,"variant_haplotypes":"rs4148157","gene":"ABCG2","drugs":"topotecan","pmid":27052877,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Absorption rate constant and circulating concentrations. Patients homozygous or heterozygous for G>A demonstrated Ka 2-fold higher than patients with GG genotype, and also a 2-fold higher maximal concentration. Patients stratified into one of three risk arms base on stage of metastasis, diagnosis, extent of resection, histologic subtype, and age at diagnosis (into low, intermediate, high). Each treatment arm had induction, consolidation, maintenance. During maintenance, patients got oral topotecan (0.8 mg/m2) for ten days and oral cyclophosphamide (30 mg/m2) for 21 days on a 28-day cycle for three cycles.","sentence":"Genotypes AA + AG is associated with increased concentrations of topotecan in children with Brain Neoplasms as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Brain Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163553,"variant_haplotypes":"rs2257401","gene":"CYP3A7","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients, this passed validation in the EA cohort. Direction of effect was not stated.","sentence":"Allele C is associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2911553","article_title":"CYP4F2 rs2108622: a minor significant genetic factor of warfarin dose in Han Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC2911553.md","variant_annotation_id":981483977,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":20653676,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"2.6 mg/day vs 4.0 mg/day.","sentence":"Genotype TT is associated with decreased dose of warfarin in people with mechanical heart valve replacement as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:mechanical heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC11160041","article_title":"CBR1 and CBR3 pharmacogenetics and their influence on doxorubicin disposition in Asian breast cancer patients","article_path":"articles/PMC11160041.md","variant_annotation_id":1448105661,"variant_haplotypes":"rs20572","gene":"CBR1","drugs":"doxorubicin","pmid":19016765,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype CC is associated with decreased concentrations of doxorubicin in people with Breast Neoplasms as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC2812115","article_title":"CYP2C9*1B Promoter Polymorphisms, in Linkage with CYP2C19*2, Affect Phenytoin Autoinduction of Clearance and Maintenance Dose","article_path":"articles/PMC2812115.md","variant_annotation_id":769250168,"variant_haplotypes":"rs12782374","gene":"CYP2C9","drugs":"phenytoin","pmid":19855097,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Statistics given for haplotype *1B measured by rs71486745delTG and rs12782374G>A.","sentence":"Genotypes AA + AG are associated with decreased dose of phenytoin in people with Epilepsy as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4702374","article_title":"A multi-factorial analysis of response to warfarin in a UK prospective cohort","article_path":"articles/PMC4702374.md","variant_annotation_id":1447680563,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":26739746,"phenotype_category":"Dosage","significance":"yes","notes":"The CYP4F2 variant only plays a small effect on warfarin mean weekly dose (MWD). It explained only a further 0.5 % of the MWD variance.","sentence":"Allele T is associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4814312","article_title":"Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study","article_path":"articles/PMC4814312.md","variant_annotation_id":1447813645,"variant_haplotypes":"rs78015114","gene":null,"drugs":"lithium","pmid":26806518,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients had been taking lithium for at least 6 mo. Response to lithium was assayed using the Alda scale, which quantifies symptom improvement over time. The scale is from 0-10, with 10 being the highest response score and 0 being the lowest. The authors evaluated response using a dichotomous (=7 is \"responder\" and < 7 is \"non-responder\") and a continuous phenotype (0-10). This SNP was found to be associated with improved response to lithium using the continuous phenotype but not the dichotomous phenotype measure. The association was confirmed in an independent prospective study of 73 patients. This is one of four SNPs in LD that show association (rs79663003, rs78015114, rs74795342, rs75222709).","sentence":"Allele T is associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811783,"variant_haplotypes":"rs563649","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. No significant association between this variant and any individual item or total score on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele T is not associated with response to ethanol as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3071070","article_title":"Association of Pharmacogenetic Markers with Premature Discontinuation of First-line Anti-HIV Therapy: An Observational Cohort Study","article_path":"articles/PMC3071070.md","variant_annotation_id":1184747519,"variant_haplotypes":"rs2472677","gene":"NR1I2","drugs":"atazanavir, ritonavir","pmid":21288825,"phenotype_category":"Toxicity","significance":"no","notes":"atazanavir boosted with ritonavir","sentence":"Genotypes CC + CT is not associated with increased discontinuation of atazanavir and ritonavir in people with HIV Infections as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874608,"variant_haplotypes":"rs34946978","gene":"UGT1A1","drugs":"clozapine","pmid":40048458,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"In the model adjusted for clinical predictors of clozapine concentration, including smoking status and cumulative dose of clozapine, five SNPs (rs28371726 and rs202102799 in CYP2D6; rs4148323 and rs34946978 in UGT1A1; and rs2011404 in UGT1A4) showed significant associations with clozapine concentration. The rs number for each SNP associated with clozapine concentration is shown in Table 3.\" Table does not state which allele or direction of effect for these SNPs, so assuming minor allele and decreased concentration (beta value in table is negative).","sentence":"Allele T is associated with decreased concentrations of clozapine in people with Schizophrenia or Psychotic Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7089776","article_title":"Use of Pharmacogenetic Data to Guide Individualized Opioid Prescribing After Surgery","article_path":"articles/PMC7089776.md","variant_annotation_id":1451117080,"variant_haplotypes":"CYP2D6 normal metabolizers","gene":"CYP2D6","drugs":"opioids","pmid":31320226,"phenotype_category":"Efficacy","significance":"no","notes":"Patients with a NM phenotype had higher pain scores and opioid consumption following surgical procedures than patients with an IM phenotype. NMs also reported the least satisfaction with pain control following surgery, however, none of these association reached statistical significance. Note that the paper does not state exactly which opioids were used by patients in the study and also assigns an \"intermediate to normal metabolizer\" phenotype (AS 1.3-1.5). Based on the CPIC genotype to phenotype translation project, these patients would be assigned as NMs.","sentence":"CYP2D6 normal metabolizer is associated with decreased response to opioids in people with Pain, Postoperative as compared to CYP2D6 intermediate metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer"} +{"pmcid":"PMC6219441","article_title":"Comprehensive Ara-C SNP score predicts leukemic cell intracellular ara-CTP levels in pediatric acute myeloid leukemia patients","article_path":"articles/PMC6219441.md","variant_annotation_id":1449752025,"variant_haplotypes":"rs4364871","gene":"CTPS1","drugs":"ara-CTP","pmid":30088438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes CT + TT is associated with decreased concentrations of ara-CTP in children with Leukemia, Myeloid, Acute as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC8132880","article_title":"First genome-wide association study on rocuronium dose requirements shows association with SLCO1A2","article_path":"articles/PMC8132880.md","variant_annotation_id":1451404160,"variant_haplotypes":"rs7967354","gene":"SLCO1A2","drugs":"rocuronium","pmid":33676726,"phenotype_category":"Dosage","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. Although this association is significant on its own, the authors state that the decrease in dosage requirements is best explained by the combination of the CC genotype at this position with the CC genotype at rs11045995.","sentence":"Genotype CC is associated with decreased dose of rocuronium in women as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5266160","article_title":"Clinical and genetic factors associated with warfarin maintenance dose in northern Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC5266160.md","variant_annotation_id":1448567630,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":28079798,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotypes CT + TT are associated with decreased dose of warfarin in people with heart valve replacement as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4356257","article_title":"Translesion Polymerase Genes Polymorphisms and Haplotypes Influence Survival of Osteosarcoma Patients","article_path":"articles/PMC4356257.md","variant_annotation_id":1447675769,"variant_haplotypes":"rs465646","gene":"REV3L","drugs":"cisplatin","pmid":25748439,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP not significantly associated with event-free survival (p = 0.601) or overall survival (p = 0.335), as determined by recurrence or death, with mean follow-up time of 143 months.","sentence":"Genotypes AG + GG are not associated with increased response to cisplatin in people with Osteosarcoma as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC8137991","article_title":"Effects of a Common Eight Base Pairs Duplication at the Exon 7-Intron 7 Junction on Splicing, Expression, and Function of OCT1","article_path":"articles/PMC8137991.md","variant_annotation_id":1452527520,"variant_haplotypes":"rs1349294037","gene":"SLC22A1","drugs":"sumatriptan","pmid":34025422,"phenotype_category":"Other","significance":"not stated","notes":"\"The AUC of sumatriptan was slightly increased in homozygous rs35854239 duplication allele carriers compared to the wild-type (means of 7187 vs. 6277 min \u00d7 ng/ ml, respectively, Figure 7A). However, this increase was not significant and was on average by 14% compared to the observed 127% increase in poor OCT1 transporters (homozygous or compound heterozygous carriers of the coding variants Arg61Cys, Gly401Ser, Gly465Arg) observed in the same study.\" rs35854239 was retired by dbSNP. Authors also described two other rs numbers for this indel (rs113569197 or rs36056065) also retired. We mapped this to 3 possible dbSNP identifiers that all represent indels near the end of exon 7, rs1349294037, rs755473306 and rs2114790299 but none seems to represent exactly the variants depicted in figure 1.","sentence":"Genotype TAAGTTGT/TAAGTTGT is associated with increased concentrations of sumatriptan as compared to genotype del/del.","alleles":"TAAGTTGT/TAAGTTGT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"del/del","comparison_metabolizer_types":null} +{"pmcid":"PMC4456129","article_title":"Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity","article_path":"articles/PMC4456129.md","variant_annotation_id":1444695465,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"methadone","pmid":25556837,"phenotype_category":"Dosage","significance":"no","notes":"Methadone maintenance dose was not associated with genotype of the SNP but it was correlated to the highest dose ever used. Multiple doses versus single dose, body weight, history of cocaine dependence and ethnicity (Asian>Caucasian>African) were independently associated with methadone dose in multiple regression analysis.","sentence":"Allele G is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC7674153","article_title":"Association of MICA-129Met/Val polymorphism with clinical outcome of anti-TNF therapy and MICA serum levels in patients with rheumatoid arthritis","article_path":"articles/PMC7674153.md","variant_annotation_id":1451411069,"variant_haplotypes":"rs1051792","gene":"MICA","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":32123296,"phenotype_category":"Efficacy","significance":"yes","notes":"The association was significant at 3 months following treatment initiation, but significance was lost at the 6 month timepoint.","sentence":"Genotype AG is associated with increased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to genotypes AA + GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566637,"variant_haplotypes":"rs1229967","gene":"ADH1A","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this snp is NOT significant after Bonferroni correction (<0.00049). Also, the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele C is associated with metabolism of ethanol.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10452379","article_title":"Novel Gene Polymorphisms for Stable Warfarin Dose in a Korean Population: Genome-Wide Association Study","article_path":"articles/PMC10452379.md","variant_annotation_id":1452221244,"variant_haplotypes":"rs1890109","gene":"FAM201A","drugs":"warfarin","pmid":37626805,"phenotype_category":"Dosage","significance":"yes","notes":"in univariate analysis of patients on stable dose. \"The VKORC1 rs9934438 allelic variation was the most influential, explaining 33.0% of dose variability, followed by FRAS1 rs4386623 at 9.9% and FAM201A rs1890109 at 4.0%.\"","sentence":"Genotypes AG + GG is associated with increased dose of warfarin in people with heart valve replacement as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6179259","article_title":"KIF6 gene as a pharmacogenetic marker for lipid-lowering effect in statin treatment","article_path":"articles/PMC6179259.md","variant_annotation_id":1449748074,"variant_haplotypes":"rs20455","gene":"KIF6","drugs":"atorvastatin","pmid":30304062,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. A statistically significant association was seen between genotype and change in c-Non-HDL levels, but no significant association was seen between genotype and change in c-LDL or c-HDL levels.","sentence":"Genotype GG is associated with decreased response to atorvastatin in people with Hypercholesterolemia as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238707,"variant_haplotypes":"rs2278773","gene":"PRKCE","drugs":"perphenazine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele C is associated with response to perphenazine in people with Schizophrenia.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7235792","article_title":"Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates","article_path":"articles/PMC7235792.md","variant_annotation_id":1451147601,"variant_haplotypes":"rs10264272","gene":"CYP3A5","drugs":"ambrisentan, aripiprazole, atorvastatin, donepezil, olanzapine","pmid":32331352,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant changes in PK parameters in the presence of the C allele. The C allele is also referred to in the paper as the CYP3A5*6 allele.","sentence":"Allele T is not associated with metabolism of ambrisentan, aripiprazole, atorvastatin, donepezil or olanzapine in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5862636","article_title":"Integrated analysis of genetic variation and gene expression reveals novel variant for increased warfarin dose requirement in African Americans","article_path":"articles/PMC5862636.md","variant_annotation_id":1448573185,"variant_haplotypes":"rs4889606","gene":"STX1B","drugs":"warfarin","pmid":28135054,"phenotype_category":"Dosage","significance":"yes","notes":"in African american patients even after conditioning on VKORC1 -1639G>A (rs9923231) variant. \"Inclusion of rs4889606 genotypes, along with CYP2C9 alleles, rs9923231 genotypes, and clinical variables explained 31% of the interpatient variability in warfarin dose requirement.\" \"The daily warfarin dose was significantly different among the three genotypes of rs4889606 with carriers of the AG or GG genotypes requiring higher doses (6.8 \u00b13.1 mg/day and 7.6 \u00b13.9 mg/day, respectively) compared to AA carriers in the Discovery (\u00df = 1.1; 95%CI = 0.46 \u2013 1.8, p = 0.0009)\".","sentence":"Genotypes AG + GG are associated with increased dose of warfarin as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121724,"variant_haplotypes":"rs2234918","gene":"OPRD1","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test, subjective effects of oxycodone.","sentence":"Allele T is not associated with response to oxycodone as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757065,"variant_haplotypes":"rs1415774","gene":"PROCR","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele G is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4469933","article_title":"Association between opioid receptor mu 1 (OPRM1) gene polymorphisms and tobacco and alcohol consumption in a Spanish population","article_path":"articles/PMC4469933.md","variant_annotation_id":1450822083,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"nicotine","pmid":26042510,"phenotype_category":"Dosage","significance":"no","notes":"No significant association between this variant and tobacco consumption.","sentence":"Genotypes AG + GG are not associated with dose of nicotine as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896021,"variant_haplotypes":"rs2453488","gene":"RND1","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit). Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Allele T is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5203947","article_title":"Exploring the multifactorial nature of postoperative nausea and vomiting in women following surgery for breast cancer","article_path":"articles/PMC5203947.md","variant_annotation_id":1451221008,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"opioids","pmid":27729204,"phenotype_category":"Dosage","significance":"yes","notes":"G allele is referred to as the 'Val' allele in the paper. Patients with the GG genotype had significantly increased opioid consumption, as measured in morphine equivalents, compared to AA or AG patients.","sentence":"Genotype GG is associated with increased dose of opioids in women with Breast Neoplasms and Pain, Postoperative as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"\"Other:Breast Neoplasms\", \"Other:Pain, Postoperative\"","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121020,"variant_haplotypes":"rs581111","gene":"OPRD1","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the AA or AG genotypes had a decreased subjective 'High Quality' response to oxycodone than subjects with the GG genotype. Authors note that this was an interaction with rs6848893. Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes AA + AG are associated with decreased response to oxycodone as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC1874463","article_title":"Genetic polymorphisms in human CYP2A6 gene causing impaired nicotine metabolism","article_path":"articles/PMC1874463.md","variant_annotation_id":769278040,"variant_haplotypes":"rs28399468","gene":"CYP2A6","drugs":"nicotine","pmid":12445030,"phenotype_category":"Other, Metabolism/PK","significance":"no","notes":"This SNP is in the CYP2A6*8 and *10 allele. Individuals with *4, *7, *10 alleles had impaired nicotine metabolism in this study. Statistics compared metabolism levels in Japanese and Korean subjects, rather than this allele compared to wildtype.","sentence":"Allele A is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3383686","article_title":"Meta-Analysis on Pharmacogenetics of Platinum-Based Chemotherapy in Non Small Cell Lung Cancer (NSCLC) Patients","article_path":"articles/PMC3383686.md","variant_annotation_id":982046469,"variant_haplotypes":"rs25487","gene":"XRCC1","drugs":"Platinum compounds","pmid":22761669,"phenotype_category":"Efficacy","significance":"no","notes":"No significant relationship between genotype and drug response was detected.","sentence":"Allele C is not associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC11605493","article_title":"Genetic polymorphisms to identify patients with an optimal response to tildrakizumab in psoriasis patients from real\u2010life clinical practice","article_path":"articles/PMC11605493.md","variant_annotation_id":1452554432,"variant_haplotypes":"rs10556657","gene":"PDE4D","drugs":"tildrakizumab","pmid":39081053,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Our data also suggest that patients carrying the genotype GG for rs610604 (TNFAIP3), CTGT/\u2212 for rs72167053 (PDE4D) and CT for rs9373839 (ATG5) had a higher probability to not achieve PASI \u22641 after 12\u2009months of tildrakizumab treatment, while those with CT for rs708567 (IL17RC) have a higher chance to have an optimal response to this treatment.\" rs10556657 is new identifier for rs72167053 (PDE4D) Tables 2and 3 and figure 1 show it is the homozygous deletion that is associated with risk of treatment non-response rather than heterozygotes.","sentence":"Genotype CT/CT is associated with decreased clinical benefit to tildrakizumab in people with Psoriasis as compared to genotypes CT/CTGTCT + CTGTCT/CTGTCT.","alleles":"CT/CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT/CTGTCT + CTGTCT/CTGTCT","comparison_metabolizer_types":null} +{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407460,"variant_haplotypes":"rs1051660","gene":"OPRK1","drugs":"morphine","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Study-wide significance was set to p<0.017.","sentence":"Allele A is not associated with response to morphine in healthy individuals as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166082,"variant_haplotypes":"rs12409352","gene":"PIGM","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele A is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3462355","article_title":"G PROTEIN RECEPTOR KINASE 4 (GRK4) POLYMORPHISMS: BETA-BLOCKER PHARMACOGENETICS AND TREATMENT RELATED OUTCOMES IN HYPERTENSION","article_path":"articles/PMC3462355.md","variant_annotation_id":981345462,"variant_haplotypes":"rs1801058","gene":"GRK4","drugs":"atenolol","pmid":22949529,"phenotype_category":"Efficacy","significance":"no","notes":"This was described as a trend but not significant.","sentence":"Allele T is associated with decreased response to atenolol in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10298263","article_title":"The Distribution of the Genotypes of ABCB1 and CES1 Polymorphisms in Kazakhstani Patients with Atrial Fibrillation Treated with DOAC","article_path":"articles/PMC10298263.md","variant_annotation_id":1452146187,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"dabigatran","pmid":37372371,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with decreased dose-adjusted trough concentrations of dabigatran in people with Atrial Fibrillation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10139129","article_title":"Genetic Polymorphisms of ENPP2 Are Possibly Associated with Pain Severity and Opioid Dose Requirements in Patients with Inflammatory Pain Conditions: Clinical Observation Study","article_path":"articles/PMC10139129.md","variant_annotation_id":1452087720,"variant_haplotypes":"rs7832704","gene":"ENPP2","drugs":"opioids","pmid":37108150,"phenotype_category":"Dosage","significance":"yes","notes":"authors describe for minor allele, all sources in ALFA give A as minor allele and G as major allele. It was also significant in the allelic model. This was not significant for dosage in the cancer pain intensity cohort.","sentence":"Genotype AA is associated with increased dose of opioids in people with Pain, Postoperative as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5051541","article_title":"Using EHR-Linked Biobank Data to Study Metformin Pharmacogenomics","article_path":"articles/PMC5051541.md","variant_annotation_id":1452726112,"variant_haplotypes":"rs4725434","gene":"PRKAG2","drugs":"metformin","pmid":25991289,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. \"For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome.\" Table 2 shows rs4725434 as top SNP for PRKAG2","sentence":"Allele T is associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11887086","article_title":"Valproic acid levels in neurodevelopmental disorders: correlation with CYP and SULT genes using LC-MS/MS","article_path":"articles/PMC11887086.md","variant_annotation_id":1453070000,"variant_haplotypes":"CYP2D6*4, CYP2D6*10","gene":"CYP2D6","drugs":"valproic acid","pmid":40055599,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"No significant correlation was observed between VPA plasma concentrations and genotypes of SULT1A1 (p\u2009=\u20090.522), CYP2C192 (p\u2009=\u20090.288), CYP2D64 (p\u2009=\u20090.895), or CYP2D6*10 (p\u2009=\u20090.067).\" There was one individual with *10 who also carried *4 and had \"Slightly high\" TDM concentrations. One other individual was heterozygous *4 (also CYP2C19*2) and had toxic TDM concentrations.","sentence":"CYP2D6 *4 + *10 is not associated with increased concentrations of valproic acid in people with Autism or Intellectual Disability.","alleles":"*4 + *10","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Autism, Other:Intellectual Disability","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10995391","article_title":"Effect of NAT2, GSTM1 and CYP2E1 genetic polymorphisms on plasma concentration of isoniazid and its metabolites in patients with tuberculosis, and the assessment of exposure-response relationships","article_path":"articles/PMC10995391.md","variant_annotation_id":1452443320,"variant_haplotypes":"GSTM1 non-null, GSTM1 null","gene":"GSTM1","drugs":"isoniazid","pmid":38584604,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"None of pharmacokinetic parameters differed; significantly between GSTM1-plus and -null genotypes.\"","sentence":"GSTM1 null is not associated with increased concentrations of isoniazid in people with Tuberculosis as compared to GSTM1 non-null.","alleles":null,"specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"non-null","comparison_metabolizer_types":null} +{"pmcid":"PMC7649675","article_title":"Pharmacogenetics of TNF inhibitor\u00a0response in rheumatoid arthritis utilizing the two-component disease activity score","article_path":"articles/PMC7649675.md","variant_annotation_id":1451293800,"variant_haplotypes":"rs885814","gene":"ALPL","drugs":"adalimumab, certolizumab pegol, etanercept, infliximab, Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":33124499,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by change in 2C-DAS28. Table 2 shows change was a positive value for this variant suggesting increased 2C-DAS28 and less response, it was not attributed to a particular allele at this rs number location so assumed minor allele based on dbSNP frequencies.","sentence":"Allele T is associated with decreased response to adalimumab, certolizumab pegol, etanercept, infliximab or Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4169411","article_title":"Thymidylate Synthase Genotype-Directed Chemotherapy for Patients with Gastric and Gastroesophageal Junction Cancers","article_path":"articles/PMC4169411.md","variant_annotation_id":1184886873,"variant_haplotypes":"rs25487","gene":"XRCC1","drugs":"fluorouracil, leucovorin, oxaliplatin","pmid":25232828,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to fluorouracil, leucovorin and oxaliplatin in people with Esophageal Neoplasms and Stomach Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasm of esophagus, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2014902","article_title":"Formation of omeprazole sulphone but not 5-hydroxyomeprazole is inhibited by grapefruit juice","article_path":"articles/PMC2014902.md","variant_annotation_id":1450807931,"variant_haplotypes":"CYP2C19 poor metabolizers","gene":"CYP2C19","drugs":"omeprazole","pmid":10671908,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients who were poor metabolizers (n=2) had a mean AUC that was ~5X higher as compared to extensive metabolizers (n=11).","sentence":"CYP2C19 poor metabolizer is associated with decreased metabolism of omeprazole in healthy individuals as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3195031","article_title":"Population Pharmacokinetic/Pharmacogenetic Model for Optimization of Efavirenz Therapy in Caucasian HIV-Infected Patients","article_path":"articles/PMC3195031.md","variant_annotation_id":1448994017,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":21896912,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2B6 *1/*6 + *6/*6 are associated with increased concentrations of efavirenz in people with HIV as compared to CYP2B6 *1/*1.","alleles":"*1/*6 + *6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC10557961","article_title":"Influence of CYP450 Enzymes and ABCB1 Polymorphisms on Clopidogrel Response in Moroccan Patients with Acute Coronary Syndromes","article_path":"articles/PMC10557961.md","variant_annotation_id":1452272020,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"clopidogrel","pmid":37810546,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Genotype distribution of the ABCB1 C3435T variant was marginally significant between the two groups of patients (P = 0.057), the frequency of the T allele in Clopidogrel non-responders was higher than in the responders (15/19; 78.9%) and (19/36; 52.8%) respectively.\" \"Patients were subdivided into clopidogrel responder (PRU\u2264208) and clopidogrel non-responder group (PRU>208), 19 patients (34.55%) were clopidogrel non-responders, whereas 36 patients (65.45%) were clopidogrel responders. \"","sentence":"Allele A is associated with increased response to clopidogrel in people with Acute coronary syndrome as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Acute coronary syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2855513","article_title":"RRM1 single nucleotide polymorphism -37C\u2192A correlates with progression-free survival in NSCLC patients after gemcitabine-based chemotherapy","article_path":"articles/PMC2855513.md","variant_annotation_id":1184175245,"variant_haplotypes":"rs12806698","gene":"RRM1","drugs":"carboplatin, gemcitabine","pmid":20226083,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AC genotype had the longest duration of progression free survival (30.7 weeks) compared to patients with the AA (24.7 weeks) or CC (23.3 weeks) genotypes. There was no difference in \"chemotherapy response\" between groups. Chemotherapy response was classified as either partial response (PD), stable disease (SD), or progressive disease (PD).","sentence":"Genotype AC is associated with increased response to carboplatin and gemcitabine in people with Carcinoma, Non-Small-Cell Lung as compared to genotypes AA + CC.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC2810514","article_title":"Interleukin-6 (IL-6) haplotypes and the response to therapy of chronic hepatitis C virus infection","article_path":"articles/PMC2810514.md","variant_annotation_id":981861811,"variant_haplotypes":"rs1800795","gene":"IL6","drugs":"peginterferon alfa-2a","pmid":19387461,"phenotype_category":"Efficacy","significance":"yes","notes":"This association is as part of a haplotype which also includes rs1800797G and rs1800796G. This is a GC SNP so the listed associated allele may be incorrect.","sentence":"Allele G is associated with decreased response to peginterferon alfa-2a in people with Hepatitis C, Chronic as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238777,"variant_haplotypes":"rs3738883","gene":"TMEFF2","drugs":"risperidone","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. Please note: reported allele was C, this has been complemented to the plus chromosomal strand. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele G is associated with response to risperidone in people with Schizophrenia.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10668502","article_title":"Impact of IL6R genetic variants on treatment efficacy and toxicity response to sarilumab in rheumatoid arthritis","article_path":"articles/PMC10668502.md","variant_annotation_id":1452308820,"variant_haplotypes":"rs4329505","gene":"IL6R","drugs":"sarilumab","pmid":38001504,"phenotype_category":"Efficacy","significance":"yes","notes":"\"For rs4329505 and rs11265618, the genetic model that best fit the data was the dominant model, as patients homozygous for the wild-type allele (TT for rs4329505 and CC for rs11265618) showed better remission rates than the other patients; specifically, remission rates (CDAI-LDA) were 73.5% vs. 44.4% (p\u2009=\u20090.039) and the quantitative improvement in DAS28 was 2.9 vs. 2.0 (p\u2009=\u20090.048). No significant differences were found for DAS28 LDA, CDAI improvement, and/or EULAR response rates.\" \"A linked inheritance was observed between rs4329505 and rs11265618, as all individuals carrying the T allele for rs4329505 also had the C allele for rs11265618, and vice versa. \"","sentence":"Genotype TT is associated with increased response to sarilumab in people with Arthritis, Rheumatoid as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC10298263","article_title":"The Distribution of the Genotypes of ABCB1 and CES1 Polymorphisms in Kazakhstani Patients with Atrial Fibrillation Treated with DOAC","article_path":"articles/PMC10298263.md","variant_annotation_id":1452146192,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"dabigatran","pmid":37372371,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with decreased dose-adjusted trough concentrations of dabigatran in people with Atrial Fibrillation as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5908314","article_title":"Pharmacogenetics-based area-under-curve model can predict efficacy and adverse events from axitinib in individual patients with advanced renal cell carcinoma","article_path":"articles/PMC5908314.md","variant_annotation_id":1449310590,"variant_haplotypes":"rs3832043","gene":"UGT1A10, UGT1A8, UGT1A9","drugs":"axitinib","pmid":29682213,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors develop a prediction model and calculated area under the concentration curve (AUC) using 6 SNPs (rs17868323, rs3832043, rs2231142, rs2032582, rs1045642, rs35305980) was compared with actual AUC in 16 patients prospectively which significantly correlated with the objective response rate (P = 0.0002), hand-foot syndrome, P = 0.0055 and hypothyroidism, P = 0.0381, and correlated with actual AUC (P < 0.0001) - the validation study, calculated AUC prior to axitinib treatment precisely predicted actual AUC after axitinib treatment (P = 0.0066).","sentence":"Allele del is associated with concentrations of axitinib in people with Carcinoma, Renal Cell as compared to allele T.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157205,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"buprenorphine","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.","sentence":"Allele C is not associated with response to buprenorphine in people with Opioid-Related Disorders as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511088,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of GG, AG and AA did not influence donepezil clearance in a covariate model. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3114195","article_title":"IL28B genetic variations are associated with high sustained virological response (SVR) of interferon-\u03b1 plus ribavirin therapy in Taiwanese chronic HCV infection","article_path":"articles/PMC3114195.md","variant_annotation_id":1444705514,"variant_haplotypes":"rs8105790","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":21346780,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype has decreased association with sustained virological response (SVR).","sentence":"Genotypes CC + CT is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC10848431","article_title":"Effects of CYP3A4*22 and POR*28 variations on the pharmacokinetics of tacrolimus in renal transplant recipients: a meta-analysis of 18 observational studies","article_path":"articles/PMC10848431.md","variant_annotation_id":1452376460,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":38321419,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Similarly, for recipients at 3 days (SMD\u2009=\u2009-0.35, 95% CI: -0.65 to -0.06, I2\u2009=\u20090.0%), 1 month (SMD\u2009=\u2009-0.67, 95% CI: -1.16 to -0.18, I2\u2009=\u200957.8%), 3 months (SMD\u2009=\u2009-0.60, 95% CI: -0.89 to -0.31, I2\u2009=\u20090.4%), 6 months (SMD\u2009=\u2009-0.76, 95% CI: -1.49 to -0.04, I2\u2009=\u200978.7%), or 12 months (SMD\u2009=\u2009-0.69, 95% CI: -1.37 to 0.00, I2\u2009=\u200976.8%) post-transplantation, a significantly lower C0/Dose was observed in CYP3A4*1/*1 carriers compared to CYP3A4*22 carriers (Fig. 2B).\"","sentence":"CYP3A4 *22 is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1/*1.","alleles":"*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4278770","article_title":"Oxidative Stress-Related Genetic Polymorphisms Are Associated with the Prognosis of Metastatic Gastric Cancer Patients Treated with Epirubicin, Oxaliplatin and 5-Fluorouracil Combination Chemotherapy","article_path":"articles/PMC4278770.md","variant_annotation_id":1444694886,"variant_haplotypes":"rs2266637","gene":"GSTT1","drugs":"epirubicin, fluorouracil, oxaliplatin","pmid":25545243,"phenotype_category":"Efficacy","significance":"not stated","notes":"Please note: the alleles reported here are complemented to the + chromosomal strand.","sentence":"Allele C is not associated with response to epirubicin, fluorouracil and oxaliplatin in people with Neoplasm Metastasis and Stomach Neoplasms.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10152845","article_title":"Genetic Polymorphisms in ERCC1 Gene and Their Association with Response to Radiotherapy in Moroccan Patients with Nasopharyngeal Carcinoma","article_path":"articles/PMC10152845.md","variant_annotation_id":1452000960,"variant_haplotypes":"rs11615","gene":"ERCC1","drugs":"radiotherapy","pmid":36708557,"phenotype_category":"Efficacy","significance":"no","notes":"\"For C118T SNP, CT genotype prevails in radioresistant cases (60.4%, 32/53) and TT in radiosensitive; cases (62.5%, 5/8). A borderline significance was obtained between ERCC1 C118T polymorphism genotypes and; radio-resistance status (p=0.07). Similarly, a borderline; association was found between radio-resistance status; and allelic frequency (p=0.091), as T allele prevails in; radiosensitive cases.\" Alleles complemented.","sentence":"Allele A is not associated with resistance to radiotherapy in people with Nasopharyngeal Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Nasopharyngeal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3984266","article_title":"Germline Variation in Colorectal Risk Loci Does Not Influence Treatment Effect or Survival in Metastatic Colorectal Cancer","article_path":"articles/PMC3984266.md","variant_annotation_id":1446895503,"variant_haplotypes":"rs7013278","gene":null,"drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":24727911,"phenotype_category":"Efficacy","significance":"no","notes":"SNPs were investigated for their effects on response rate, time to progression and overall survival. After accounting for multiple testing there was no association with any SNPs and outcomes of patients with metastatic colorectal cancer.","sentence":"Allele T is not associated with response to fluorouracil, irinotecan and oxaliplatin in people with Colorectal Neoplasms and Neoplasm Metastasis as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms, Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6071997","article_title":"Germline single nucleotide polymorphisms in ERBB3 and BARD1 genes result in a worse relapse free survival response for HER2-positive breast cancer patients treated with adjuvant based docetaxel, carboplatin and trastuzumab (TCH)","article_path":"articles/PMC6071997.md","variant_annotation_id":1449713634,"variant_haplotypes":"rs2070096","gene":"BARD1","drugs":"carboplatin, docetaxel, trastuzumab","pmid":30071039,"phenotype_category":"Efficacy","significance":"yes","notes":"When compared to women who received different treatment regimens. Response was defined as likelihood of achieving relapse-free survival. The paper uses the G allele as the reference allele for this SNP, therefore we have assumed that the authors are referring to the negative strand. As a result, we have complemented the alleles to the positive strand.","sentence":"Allele A is associated with decreased response to carboplatin, docetaxel and trastuzumab in women with Breast Neoplasms.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003652,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to lumefantrine in women with Malaria and Pregnancy as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3633658","article_title":"Pharmacogenetics for Genes Associated with Age-Related Macular Degeneration (AMD) in the Comparison of AMD Treatments Trials (CATT)","article_path":"articles/PMC3633658.md","variant_annotation_id":1183491605,"variant_haplotypes":"rs2230199","gene":"C3","drugs":"bevacizumab, ranibizumab","pmid":23337555,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in mean visual acuity (units = letters), mean visual acuity change from baseline (units = letters), >= 15-letter increase from baseline (%), mean number of injections, retinal thickness (%, units = um), mean change in total foveal thickness from baseline (units = um), dry on optical coherence tomography (%), leakage on fluorescein angiography (%) or mean change in lesion size from baseline (units = disc area) after 1 year of treatment were seen between genotypes. p <= 0.01 was considered statistically significant to adjust for multiple comparisons.","sentence":"Genotype GG is not associated with response to bevacizumab or ranibizumab in people with Macular Degeneration as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} +{"pmcid":"PMC7039325","article_title":"A functional polymorphism in the ABCB1 transporter predicts pharmacologic response to combination of nortriptyline and morphine in neuropathic pain patients","article_path":"articles/PMC7039325.md","variant_annotation_id":1451133740,"variant_haplotypes":"rs6313","gene":"HTR2A","drugs":"morphine, nortriptyline","pmid":31738228,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in improvement in pain scores between genotype groups.","sentence":"Allele A is not associated with response to morphine and nortriptyline in people with Pain as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4778608","article_title":"Cyclophosphamide pharmacokinetics and pharmacogenetics in children with B-cell non-Hodgkin's lymphoma","article_path":"articles/PMC4778608.md","variant_annotation_id":1447678899,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"cyclophosphamide","pmid":26773420,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"but there was no effect on progression-free survival.","sentence":"CYP2B6 *6 is associated with decreased clearance of cyclophosphamide in children with Lymphoma, B-Cell as compared to CYP2B6 *1/*1.","alleles":"*6","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Lymphoma, B-Cell","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6800829","article_title":"Impact of SLCO1B3 Polymorphisms on Clinical Outcomes in Lung Allograft Recipients Receiving Mycophenolic Acid","article_path":"articles/PMC6800829.md","variant_annotation_id":1451101326,"variant_haplotypes":"rs2741049","gene":"UGT1A9","drugs":"azathioprine, mycophenolic acid","pmid":30992538,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and survival post-transplantation or development of acute cellular rejection, lymphocytic bronchiolitis or chronic lung allograft dysfunction (CLAD).","sentence":"Allele T is not associated with response to azathioprine or mycophenolic acid in people with lung transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4272010","article_title":"Novel Sequence Variations in the Brain-Derived Neurotrophic Factor Gene and Association with Major Depression and Antidepressant Treatment Response","article_path":"articles/PMC4272010.md","variant_annotation_id":655387194,"variant_haplotypes":"rs61888800","gene":"BDNF","drugs":"antidepressants, desipramine, fluoxetine","pmid":19414708,"phenotype_category":"Efficacy","significance":"not stated","notes":"Outcome with the two drugs was combined for analysis. Not found to be associated with remission vs non-remission. Found to be associated with reduction in HAM-D21 score after adjusting for age, sex, medication, and; baseline HAM-D21 score.","sentence":"Genotype GG is associated with increased response to antidepressants, desipramine and fluoxetine in people with Depressive Disorder, Major.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11359404","article_title":"Genetic Variation in CYP2D6, UGT1A4, SLC6A2 and SLCO1B1 Alters the Pharmacokinetics and Safety of Mirabegron","article_path":"articles/PMC11359404.md","variant_annotation_id":1452574520,"variant_haplotypes":"rs2008584","gene":"UGT1A3","drugs":"mirabegron","pmid":39204422,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\" The UGT1A3 rs2008584 A/A genotype was associated with lower tmax than the UGT1A3 rs2008584 A/G genotype (puv = 0.014). \"","sentence":"Genotype AA is associated with decreased half-life time of mirabegron in healthy individuals as compared to genotype AG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"half-life time of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5299197","article_title":"Influence of IL-18 and IL-10 Polymorphisms on Tacrolimus Elimination in Chinese Lung Transplant Patients","article_path":"articles/PMC5299197.md","variant_annotation_id":1448603549,"variant_haplotypes":"rs1800896","gene":"IL10","drugs":"tacrolimus","pmid":28246425,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the TT genotype had higher dose-adjusted trough concentrations of tacrolimus at weeks 1 (p=0.027) and 2 (p=0.034) post-transplant as compared to the CT genotype; no significant results were seen at weeks 3 (p=0.24) or 4 (p=0.24). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is associated with increased dose-adjusted trough concentrations of tacrolimus in people with lung transplantation as compared to genotype CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC6375065","article_title":"An expanded pharmacogenomics warfarin dosing table with utility in generalised dosing guidance","article_path":"articles/PMC6375065.md","variant_annotation_id":1448109696,"variant_haplotypes":"rs28371685","gene":"CYP2C9","drugs":"warfarin","pmid":27121899,"phenotype_category":"Dosage","significance":"not stated","notes":"This variant annotation is part of a dosing algorithm table based on 8 genetic variants.","sentence":"Allele C is associated with dose of warfarin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2485247","article_title":"Impact of CYP3A5 genetic polymorphism on pharmacokinetics of tacrolimus in healthy Japanese subjects","article_path":"articles/PMC2485247.md","variant_annotation_id":1184515184,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":18341670,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Subjects with the CYP3A5*3/*3 genotype had a 1.8 times higher AUC than subjects who were carriers of the CYP3A5*1 allele. Of note, this study did not determine the proportion of CYP3A5*1/*3 or CYP3A5*1/*1 genotypes. These were referred collectively as \"CYP3A5*1 carriers\". In addition, subjects who were CYP3A5*1 carriers had 1.5 times higher clearance (Cl/F) than subjects with the CYP3A5*3/*3 genotype.","sentence":"Genotype CC is associated with decreased clearance of tacrolimus in healthy individuals as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC8578190","article_title":"Pharmacogenetics of Interaction between Depot Medroxyprogesterone Acetate and Efavirenz, Rifampicin and Isoniazid during Treatment of HIV and Tuberculosis","article_path":"articles/PMC8578190.md","variant_annotation_id":1451931240,"variant_haplotypes":"CYP2B6 poor metabolizer","gene":"CYP2B6","drugs":"medroxyprogesterone","pmid":34369424,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant associations between CYP2B6 metabolizer status and any primary pharmacokinetic parameter for medroxyprogesterone acetate. Patients also receiving efavirenz-based ART and rifampicin plus isoniazid for treatment. CYP2B6 phenotype determine based on 516G\u2192T (rs3745274), 983T\u2192C (rs28399499), and 15582C\u2192T (rs4803419) with normal metabolizer (1: 15582CC-516GG-983TT or 2: 15582CT-516GG-983TT); intermediate metabolizer (3: 15582TT-516GG-983TT; 4: 15582CC-516GT-983TT; 5: 15582CC-516GG-983CT; 6: 15582CT-516GT-983TT; or 7: 15582CT-516GG-983CT); and poor metabolizer (8: 15582CC-516TT-983TT; 9: 15582CC-516GT-983CT; 10: 15582CC-516GG-983CC","sentence":"CYP2B6 poor metabolizer is not associated with metabolism of medroxyprogesterone in women with HIV Infections and Tuberculosis as compared to CYP2B6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:HIV infectious disease, Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5659294","article_title":"Comprehensive assessment of cytochromes P450 and transporter genetics with endoxifen concentration during tamoxifen treatment","article_path":"articles/PMC5659294.md","variant_annotation_id":1448994296,"variant_haplotypes":"CYP2C9 poor metabolizers","gene":"CYP2C9","drugs":"endoxifen","pmid":28877533,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"An increase the steady-state endoxifen concentration was found for patients with increased CYP2C9 phenotype activity. After adjustment for CYP2D6 diplotype, weight, and season the association remained significant. Endoxifen concentration 2C9 PM: 6.26 ng/ml, 2C9 IM: 7.18 ng/ml, 2C9 NM: 8.29 ng/ml.","sentence":"CYP2C9 poor metabolizer is associated with decreased concentrations of endoxifen as compared to CYP2C9 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC2686066","article_title":"Pharmacokinetic\u2013 pharmacodynamic analysis of the role of CYP2C19 genotypes in short-term rabeprazole-based triple therapy against Helicobacter pylori","article_path":"articles/PMC2686066.md","variant_annotation_id":1183624311,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"rabeprazole","pmid":19552744,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Subjects were treated with rabeprazole for 7 days, and also received amoxicillin and clarithromycin.","sentence":"CYP2C19 *2/*2 + *2/*3 is associated with decreased clearance of rabeprazole in people with Helicobacter Infections as compared to CYP2C19 *1/*1 + *1/*2 + *1/*3.","alleles":"*2/*2 + *2/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC6387687","article_title":"Carfilzomib and lenalidomide response related to VEGF and VEGFR2 germline polymorphisms","article_path":"articles/PMC6387687.md","variant_annotation_id":1448634657,"variant_haplotypes":"rs2305948","gene":"KDR","drugs":"carfilzomib, dexamethasone, lenalidomide","pmid":28488026,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors indicate repose as CR/nCR/sCR but do not define these and non-response as VGPR and PR/SD (which assume to mean progression/stable disease). There was only one TT individual who had sCR.","sentence":"Genotypes CT + TT is associated with increased response to carfilzomib, dexamethasone and lenalidomide in people with Multiple Myeloma as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Multiple Myeloma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5524513","article_title":"CYP2B6 516G>T Minor Allele Protective of Late Virologic Failure in Efavirenz-treated HIV-Infected Patients in Botswana","article_path":"articles/PMC5524513.md","variant_annotation_id":1448617505,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":28481785,"phenotype_category":"Efficacy","significance":"yes","notes":"CYPB2B6 516 T-allele was protective against late virologic failure in patients with initial (6 month) HIV RNA suppression on EFV-based ART.","sentence":"Genotypes GT + TT are associated with decreased resistance to efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166070,"variant_haplotypes":"rs17712523","gene":"CDH23","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele G is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896187,"variant_haplotypes":"rs4236420","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729214,"variant_haplotypes":"rs56156262","gene":"CYP2B6","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes AA + AG is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2928561","article_title":"A polymorphism in the VKORC1-regulator calumenin predicts higher warfarin doses in African-Americans","article_path":"articles/PMC2928561.md","variant_annotation_id":608431797,"variant_haplotypes":"rs339097","gene":"CALU","drugs":"warfarin","pmid":20200517,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele G is associated with increased dose of warfarin.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC8222836","article_title":"Genetic variants related to successful migraine prophylaxis with verapamil","article_path":"articles/PMC8222836.md","variant_annotation_id":1452311820,"variant_haplotypes":"rs2230433","gene":"ITGAL","drugs":"verapamil","pmid":33829662,"phenotype_category":"Efficacy","significance":"yes","notes":"\"There are 3 highly significant SNPs (p\u2010value < 0.008) in both the arithmetic and percentage change models: rs2230433 within the Integrin Subunit Alpha L gene (ITGAL) [OMIM#153370], rs17844444 in Protocadherin Beta 6 gene (PCDHB6) [OMIM#606332] and rs3733694 in Protocadherin Beta 7 gene (PCDHB7) [OMIM#606333]. The minor allele of rs2230433 was associated with a mean reduction in headache days of about 20%.\"","sentence":"Allele C is associated with increased clinical benefit to verapamil in people with Migraine NOS as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4278770","article_title":"Oxidative Stress-Related Genetic Polymorphisms Are Associated with the Prognosis of Metastatic Gastric Cancer Patients Treated with Epirubicin, Oxaliplatin and 5-Fluorouracil Combination Chemotherapy","article_path":"articles/PMC4278770.md","variant_annotation_id":1444694872,"variant_haplotypes":"rs854560","gene":"PON1","drugs":"epirubicin, fluorouracil, oxaliplatin","pmid":25545243,"phenotype_category":"Efficacy","significance":"not stated","notes":null,"sentence":"Allele A is not associated with response to epirubicin, fluorouracil and oxaliplatin in people with Neoplasm Metastasis and Stomach Neoplasms.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2599947","article_title":"ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence","article_path":"articles/PMC2599947.md","variant_annotation_id":1450811595,"variant_haplotypes":"rs6949448","gene":"ABCB1","drugs":"methadone","pmid":18424454,"phenotype_category":"Dosage","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. Alleles were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone.","sentence":"Allele T is not associated with dose of methadone in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11095822","article_title":"An Unusual Presentation of Succinic Semialdehyde Dehydrogenase Deficiency: A Fatal Case of Severe Progressive Seizures in a Four-Month-Old Infant","article_path":"articles/PMC11095822.md","variant_annotation_id":1452479840,"variant_haplotypes":"rs72552282","gene":"ALDH5A1","drugs":"antiepileptics, levetiracetam, phenytoin, valproic acid","pmid":38752093,"phenotype_category":"Efficacy","significance":"no","notes":"\"Here we describe an unusual presentation of a four-month-old female patient diagnosed with SSADH deficiency who presented with severe progressive seizure leading to the death of the patient.\" \"Whole exome sequencing was done from the blood sample. It showed a homozygous mutation G->A substitution at chr6:24505155. Akaboshi et al. predicted this mutation to cause an abnormal protein translation of the ALDH5A1 protein at amino acid position 223 \"","sentence":"Genotype AA is associated with increased resistance to antiepileptics, levetiracetam, phenytoin and valproic acid in children Epilepsy, Infant and Metabolism, Inborn Errors.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":"and","population_types":"in children","population_phenotypes_or_diseases":"\"Other:Epilepsy\", \"Other:Infant\", \"Other:Metabolism, Inborn Errors\"","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2886925","article_title":"The Influence of CYP2C19 Polymorphism on Eradication of Helicobacter pylori: A Prospective Randomized Study of Lansoprazole and Rabeprazole","article_path":"articles/PMC2886925.md","variant_annotation_id":1183680098,"variant_haplotypes":"CYP2C19*1","gene":"CYP2C19","drugs":"rabeprazole","pmid":20559522,"phenotype_category":"Efficacy","significance":"no","notes":"as compared to the *1/*2 or *1/*3 genotype, or the *2/*2, *2/*3 or *3/*3 genotype. No significant differences in percent eradication rate of Helicobacter pylori (H. pylori) were seen between any of the genotype groups. Patients were also given amoxicillin and clarithromycin, and were treated for 1 week. Please note these genotypes were referred to by their previous designations of m1 (*2) and m2 (*3).","sentence":"CYP2C19 *1/*1 is not associated with response to rabeprazole in people with Helicobacter Infections.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5655282","article_title":"Tacrolimus dose requirement based on the CYP3A5 genotype in renal transplant patients","article_path":"articles/PMC5655282.md","variant_annotation_id":1449147673,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":29113387,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the CT or TT genotype need a higher dose of tacrolimus to achieve target blood concentrations as compared to those with the CC genotype. The authors note that patients with the CC genotype were significantly younger as compared to those with the CT or TT genotype (p=0.0011). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT is associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3894627","article_title":"Genetic Determinants of Response to Warfarin during Initial Anticoagulation","article_path":"articles/PMC3894627.md","variant_annotation_id":1450980540,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":18322281,"phenotype_category":"Dosage","significance":"yes","notes":"With *1/*2 (CT) requiring intermediate dose. This was most marked at day 28 to end of follow-up with average doses of 3.66mg/day for *2*2 (HaplotypeA/HaplotypeA\"), 4.45mg/day for HaplotypeA/nonA and 5.68mg/day for nonA/nonA. Authors also used rs2884737, rs9934438, rs8050894, and rs2359612 to define HaplotypeA.","sentence":"Genotype TT is associated with decreased dose of warfarin as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4876172","article_title":"Absence of ethnic differences in the pharmacokinetics of moxifloxacin, simvastatin, and meloxicam among three East Asian populations and Caucasians","article_path":"articles/PMC4876172.md","variant_annotation_id":1451092564,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"meloxicam","pmid":26774055,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2C9 *1/*3 + *2/*2 are associated with decreased metabolism of meloxicam in healthy individuals as compared to CYP2C9 *1/*1.","alleles":"*1/*3 + *2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511060,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of CC, TC and TT did not influence donepezil clearance in a covariate model. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874820,"variant_haplotypes":"CYP1A2 ultrarapid metabolizer","gene":"CYP1A2","drugs":"clozapine, n-desmethylclozapine","pmid":40048458,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"CYP1A2 phenotypes were significantly associated with the metabolic ratio (clozapine/NDMC ratio) (p\u2009=\u20090.006, Mann\u2013Whitney U test) at visit 4, with higher metabolic ratios in NMs (n\u2009=\u200914) than that in UMs (n\u2009=\u200926) (S1 Fig).\" Paper uses old nomenclature for CYP1A2 \"Of the 45 enrolled patients, 17 were normal metabolizers (NMs) of CYP1A2 (*1A/\u2009*\u20091A, *\u20091C\u2009*\u20091F/\u2009*\u20091C\u2009*\u20091F, *\u20091C/\u2009*\u20091F, or *\u20091A/\u2009*\u20091C\u2009*\u20091F), while 28 were ultrarapid metabolizers (UMs) (*1F/\u2009*\u20091F, *\u20091F/\u2009*\u20091C\u2009*\u20091F, or *\u20091A/\u2009*\u20091F).\" \"CYP1A2 phenotypes were determined by a combination of two SNPs, namely rs2069514 (c.-3860G\u2009>\u2009A) and rs762551 (c.-9-154C\u2009>\u2009A).\"","sentence":"CYP1A2 ultrarapid metabolizer is associated with decreased concentrations of clozapine and n-desmethylclozapine in people with Schizophrenia or Psychotic Disorder as compared to CYP1A2 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC6647927","article_title":"Influence of (ATP)-Binding Cassette Transporter Subfamily B Member 1 (ABCB1) Gene Polymorphism on the Efficacy of Remifentanil","article_path":"articles/PMC6647927.md","variant_annotation_id":1451118687,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"remifentanil","pmid":31346154,"phenotype_category":"Dosage","significance":"no","notes":"No significant different in remifentanil consumption between patients with the AG or AA genotypes, or between patients with the AG or GG genotypes.","sentence":"Genotype AG is not associated with dose of remifentanil as compared to genotypes AA + GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11855146","article_title":"Genetic Variants of SLC22A1 rs628031 and rs622342 and Glycemic Control in T2DM Patients from Northern Mexico","article_path":"articles/PMC11855146.md","variant_annotation_id":1452867520,"variant_haplotypes":"rs628031","gene":"SLC22A1","drugs":"metformin","pmid":40004467,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Carriers of at least one minor allele of A-rs628031 and C-rs622342 had lower HbA1c values than individuals homozygous for the major allele in both genes.\"","sentence":"Genotypes AA + AG is associated with increased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557915,"variant_haplotypes":"rs12995526","gene":"ATIC","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6745302","article_title":"A functional variant in the serotonin receptor 7 gene (HTR7), rs7905446, is associated with good response to SSRIs in bipolar and unipolar depression","article_path":"articles/PMC6745302.md","variant_annotation_id":1450372709,"variant_haplotypes":"rs7905446","gene":"HTR7","drugs":"Selective serotonin reuptake inhibitors","pmid":30874608,"phenotype_category":"Efficacy","significance":"yes","notes":"The TT genotype was associated with non-remission, white the GG and GT genotypes were associated with treatment remission at 6 weeks.","sentence":"Genotype TT is associated with decreased response to Selective serotonin reuptake inhibitors in people with Depression as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC4972156","article_title":"Pharmacokinetics of lamotrigine and its metabolite N\u20102\u2010glucuronide: Influence of polymorphism of UDP\u2010glucuronosyltransferases and drug transporters","article_path":"articles/PMC4972156.md","variant_annotation_id":1447983624,"variant_haplotypes":"rs7668258","gene":"UGT2B7","drugs":"lamotrigine","pmid":27096250,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study was conducted in 100 patients -- 54 receiving monotherapy for lamotrigine, and 46 receiving combination therapy with carbamazepine, oxcarbazepine, valproic acid, phenytoin, phenobarbital, levetiracetam, topiramate, lacosamide, zonisamide, pregabalin, clonazepam, or clobazam. All patients were on stable therapy for at least 2 months. The significant difference in clearance was found between patients with the TT genotype and with the CC genotype, with clearance in patients with the CT genotype not being significantly different than in patients with the CC genotype.","sentence":"Genotype TT is associated with decreased clearance of lamotrigine in people with Epilepsy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3434304","article_title":"Predicting Inhaled Corticosteroid Response in Asthma with Two Associated SNPs","article_path":"articles/PMC3434304.md","variant_annotation_id":827921716,"variant_haplotypes":"rs37973","gene":"GLCCI1","drugs":"glucocorticoids","pmid":22641026,"phenotype_category":"Efficacy","significance":"yes","notes":"as part of a two SNP predictive test of FEV1 change, which identified patients with good or poor steroid response (highest or lowest quartile, respectively). P values are for predictive performance of the test.","sentence":"Allele G is associated with increased response to glucocorticoids in people with Asthma as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2925052","article_title":"A genetic determinant of the striatal dopamine response to alcohol in men","article_path":"articles/PMC2925052.md","variant_annotation_id":1450812854,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":20479755,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the AG genotype showed significantly increased striatal dopamine release following administration of alcohol compared to AA subjects.","sentence":"Genotype AG is associated with increased response to ethanol in men as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5520553","article_title":"Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma","article_path":"articles/PMC5520553.md","variant_annotation_id":1448820435,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":28685716,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"When considering RECIPIENT genotype - those with the CT or TT genotype had decreased concentration/dose ratios as compared to those with the CC genotype at weeks 1 and 2 of treatment. No significant difference was seen at weeks 3 or 4. In multiple linear regression analysis, rs776746 recipient genotype was associated with concentration/dose ratio at week 1 (p=0.001) of treatment. Patients with hepatocellular carcinoma. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are associated with decreased dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472408,"variant_haplotypes":"rs2290228","gene":"CALU","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"no","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"Allele A is not associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3396003","article_title":"The Relationship Between Single Nucleotide Polymorphisms in 5-HT2A Signal Transduction-Related Genes and the Response Efficacy to Selective Serotonin Reuptake Inhibitor Treatments in Chinese Patients with Major Depressive Disorder","article_path":"articles/PMC3396003.md","variant_annotation_id":1452039958,"variant_haplotypes":"rs6305","gene":"HTR2A","drugs":"citalopram, paroxetine, sertraline","pmid":22480177,"phenotype_category":"Efficacy","significance":"no","notes":"Response measure with HAMD.","sentence":"Allele A is not associated with response to citalopram, paroxetine or sertraline in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4448076","article_title":"MHC class I-related chain B gene polymorphism is associated with virological response to pegylated interferon plus ribavirin therapy in patients with chronic hepatitis C infection","article_path":"articles/PMC4448076.md","variant_annotation_id":1444843476,"variant_haplotypes":"rs3828913","gene":"MICB","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":26075078,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with MICB major (CC) alleles had higher SVR rate (62.3%) than that of the patients with MICB minor (CA and AA) alleles (27.2%). A multivariate logistic model showed that the MICB major genotype (CC) was an independent factor contributing to SVR (OR, 4.47; 95% CI, 1.46-13.70; P=0.009), similar to the IL28B major genotype (rs8099917).","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC9321338","article_title":"Genetic Polymorphisms Associated with Vincristine Pharmacokinetics and Vincristine-Induced Peripheral Neuropathy in Pediatric Oncology Patients","article_path":"articles/PMC9321338.md","variant_annotation_id":1452110364,"variant_haplotypes":"rs6519270","gene":"SNU13","drugs":"vincristine","pmid":35884569,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in a subset of study of vincristine-induced peripheral neuropathy with PK measurements. Association is reported for rs6519270 A > C however dbSNP and gnoMAD have this as an A>G variant.","sentence":"Allele G is associated with increased concentrations of vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma, Hodgkin Disease, Rhabdomyosarcoma, Medulloblastoma or Glioma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia, Other:Hodgkin Disease, Other:Rhabdomyosarcoma, Other:Medulloblastoma, Other:Glioma","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163113,"variant_haplotypes":"rs3213619","gene":"ABCB1","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934362,"variant_haplotypes":"rs727505292","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the G allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Ile253Thr.","sentence":"Allele G is associated with increased response to migalastat in people with Fabry Disease.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449165997,"variant_haplotypes":"rs10413455","gene":"ZNF134","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele A is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4760888","article_title":"Impact of GGCX, STX1B and FPGS Polymorphisms on Warfarin Dose Requirements in European\u2010Americans and Egyptians","article_path":"articles/PMC4760888.md","variant_annotation_id":1447677830,"variant_haplotypes":"rs7856096","gene":"FPGS","drugs":"warfarin","pmid":26751406,"phenotype_category":"Dosage","significance":"no","notes":"in European-Americans, and Egyptians.","sentence":"Genotype AA is not associated with dose of warfarin as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4797547","article_title":"Influence of G-protein \u03b2-Polypeptide 3 C825T Polymorphism on Antihypertensive Response to Telmisartan and Amlodipine in Chinese Patients","article_path":"articles/PMC4797547.md","variant_annotation_id":1447680330,"variant_haplotypes":"rs5443","gene":"GNB3","drugs":"amlodipine","pmid":26712426,"phenotype_category":"Efficacy","significance":"no","notes":"As measured by reduction in diastolic blood pressure","sentence":"Genotype TT is not associated with response to amlodipine in people with Essential hypertension as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC7427977","article_title":"Influence of genetic polymorphisms in homocysteine and lipid metabolism systems on antidepressant drug response","article_path":"articles/PMC7427977.md","variant_annotation_id":1451284760,"variant_haplotypes":"rs405509","gene":"APOE","drugs":"Selective serotonin reuptake inhibitors","pmid":32795354,"phenotype_category":"Efficacy","significance":"yes","notes":"response measured by HDRS-17 score. Patients received SSRI or SNRI but exact drug not specified.","sentence":"Genotype TT is associated with increased response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC4278770","article_title":"Oxidative Stress-Related Genetic Polymorphisms Are Associated with the Prognosis of Metastatic Gastric Cancer Patients Treated with Epirubicin, Oxaliplatin and 5-Fluorouracil Combination Chemotherapy","article_path":"articles/PMC4278770.md","variant_annotation_id":1444694834,"variant_haplotypes":"rs662","gene":"PON1","drugs":"epirubicin, fluorouracil, oxaliplatin","pmid":25545243,"phenotype_category":"Efficacy","significance":"yes","notes":"Response refers to overall survival (OS). In the Kaplan\u2013Meier analysis of OS genotypes of rs662 were associated with OS. In Cox regression analysis number of lesions as well as s662 genotype were independent predictors of OS. When comparing OS between the CC genotype and TT and CT genotypes there was no significant difference in OS (days) but when comparing between TT and CC only, the difference is significant (p=0.032). Please note: alleles have been complemented to the + strand.","sentence":"Genotype CC is associated with increased response to epirubicin, fluorouracil and oxaliplatin in people with Neoplasm Metastasis and Stomach Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983310,"variant_haplotypes":"rs10997242","gene":"CTNNA3","drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here. Response considered to be successful with a 50% reduction at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele C is associated with decreased response to antidepressants in people with Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4116670","article_title":"OCT1 genetic variants influence the pharmacokinetics of morphine in children","article_path":"articles/PMC4116670.md","variant_annotation_id":1451097520,"variant_haplotypes":"rs34130495","gene":"SLC22A1","drugs":"morphine","pmid":23859569,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Children with two loss of function SLC22A1 alleles (*2 rs72552763 GAT>del, *3 rs12208357C>T, *4 rs34130495 G>A, or *5 rs34059508 G>A) were grouped together and had significantly lower clearance compared to children with the *1/*1 or *1/variant genotype.","sentence":"Genotype AA is associated with decreased clearance of morphine in children with adenotonsillectomy as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:adenotonsillectomy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003375,"variant_haplotypes":"rs2838958","gene":"SLC19A1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There is no association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: AG+GG 0.41 (0.09\u201334.05)) vs. AA (0.59 (0.16\u201341.63)).","sentence":"Genotypes AG + GG are not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4078496","article_title":"CYP4F2 1347 G>A & GGCX 12970 C>G polymorphisms: frequency in north Indians & their effect on dosing of acenocoumarol oral anticoagulant","article_path":"articles/PMC4078496.md","variant_annotation_id":1444708148,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"acenocoumarol","pmid":24927344,"phenotype_category":"Dosage","significance":"no","notes":"No significant differences in mean weight normalized acenocoumarol doses were found for these CYP4F2 genotypes.","sentence":"Genotypes CT + TT is not associated with dose of acenocoumarol as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163120,"variant_haplotypes":"rs1927907","gene":"TLR4","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6357360","article_title":"Opioid response in paediatric cancer patients and the Val158Met polymorphism of the human catechol-O-methyltransferase (COMT) gene: an Italian study on 87 cancer children and a systematic review","article_path":"articles/PMC6357360.md","variant_annotation_id":1450933135,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"opioids","pmid":30704436,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AA or AG genotypes reached the lowest pain intensity faster than those with the GG genotype.","sentence":"Genotypes AA + AG are associated with increased response to opioids in children as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4243881","article_title":"Effect of UGT1A1, UGT1A3, DIO1 and DIO2 polymorphisms on L-thyroxine doses required for TSH suppression in patients with differentiated thyroid cancer","article_path":"articles/PMC4243881.md","variant_annotation_id":1184990075,"variant_haplotypes":"rs2235544","gene":"DIO1","drugs":"levothyroxine","pmid":24910925,"phenotype_category":"Dosage","significance":"no","notes":"This SNP was not associated with dose in univariate regression.","sentence":"Allele A is not associated with dose of levothyroxine in people with Thyroid Neoplasms as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Thyroid tumor","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373190,"variant_haplotypes":"rs2236258","gene":"OPRM1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not significantly associated with compliance with methadone maintenance therapy or 'negative rate of morphine urine test'.","sentence":"Allele C is not associated with response to methadone in people with Heroin Dependence as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4350512","article_title":"Genetic markers associated with abstinence length in alcohol-dependent subjects treated with acamprosate","article_path":"articles/PMC4350512.md","variant_annotation_id":1184988627,"variant_haplotypes":"rs2058878","gene":"GRIN2B","drugs":"acamprosate","pmid":25290263,"phenotype_category":"Efficacy","significance":"yes","notes":"Tag SNPs (518 total) were selected within genes associated with alcoholism as well as genes encoding enzymes involved in glycine metabolism, glycine transporters, subunits of glycine receptors, NMDA receptors, genes involved in glutamate reuptake, synthesis or degradation and genes with reported associations with acamprosate treatment outcomes in human or animal studies. The length of time to first alcohol use \u201csurvival analysis method\u201d was used to examine associations between clinical variables and genetic markers with efficacy of acomprasate (its ability to length the duration of abstinence from alcohol). The analyses were replicated in a subset of 110 participants from PREDICT, a double-blind randomized controlled trial that compared treatment outcomes including length of abstinence among alcohol- dependent subjects of German descent recruited from inpatient facilities and treated with acamprosate, naltrexone or placebo for 3 months. The strongest association finding, was for the A allele at rs2058878 A allele, which remained significantly associated with longer abstinence even after Bonferroni correction for the number of SNPs included in the analyses (P = 4.6 \u00d7 10 - 5, corrected P = 0.024).","sentence":"Allele A is associated with increased response to acamprosate in people with Alcoholism as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4537319","article_title":"Genetic Variation (CHRNA5), Medication (Combination Nicotine Replacement Therapy vs. Varenicline) and Smoking Cessation","article_path":"articles/PMC4537319.md","variant_annotation_id":1450822299,"variant_haplotypes":"rs16969968","gene":"CHRNA3, CHRNA5","drugs":"nicotine","pmid":26142345,"phenotype_category":"Efficacy","significance":"yes","notes":"Participants with the AA or AG genotypes were significantly more likely to respond to nicotine replacement therapy (NRT) than participants with the GG genotype.","sentence":"Genotypes AA + AG are associated with increased response to nicotine in people with Tobacco Use Disorder as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11011338","article_title":"Impact of STAT6 Variants on the Response to Proton Pump Inhibitors and Comorbidities in Patients with Eosinophilic Esophagitis","article_path":"articles/PMC11011338.md","variant_annotation_id":1452447180,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"Proton pump inhibitors","pmid":38612496,"phenotype_category":"Efficacy","significance":"no","notes":"as measured by PEC Reduction and EREFS Score Reduction. Alleles complemented (triallelic snp). \"Patients with the STAT6 rs12368672 C/C genotype showed a lower reduction in EREFS score compared to patients with G/C + G/G genotypes (p = 0.011) (Table 5). Furthermore, a higher EREFS score reduction was observed in individuals with ABCB1 rs2032582 T/T+T/G genotypes compared to those with A/A+G/A+G/G genotypes (p = 0.045) (Table 5); none of these differences reached the threshold for statistical significance after the Bonferroni correction for multiple comparisons \"","sentence":"Genotypes AA + AC is associated with increased response to Proton pump inhibitors in people with eosinophilic esophagitis as compared to genotypes CC + CT.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:eosinophilic esophagitis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3776990","article_title":"S-1 plus irinotecan and oxaliplatin for the first-line treatment of patients with metastatic colorectal cancer: a prospective phase II study and pharmacogenetic analysis","article_path":"articles/PMC3776990.md","variant_annotation_id":1184510873,"variant_haplotypes":"UGT1A1*60","gene":"UGT1A1","drugs":"irinotecan, oxaliplatin, tegafur / gimeracil / oteracil","pmid":23963147,"phenotype_category":"Efficacy","significance":"yes","notes":"Those with the *60 allele had a lower objective response rate (52% responders) as compared to those without the * 60 allele (90% responders).","sentence":"UGT1A1 *60 is associated with decreased response to irinotecan, oxaliplatin and s 1 (combination) in people with Colorectal Neoplasms.","alleles":"*60","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3805522","article_title":"Evaluating Predictive Pharmacogenetic Signatures of Adverse Events in Colorectal Cancer Patients Treated with Fluoropyrimidines","article_path":"articles/PMC3805522.md","variant_annotation_id":1184471949,"variant_haplotypes":"rs75017182","gene":"DPYD","drugs":"capecitabine, fluorouracil","pmid":24167597,"phenotype_category":"Dosage","significance":"yes","notes":"Clinical data about adverse events were collected from patient records and laboratory charts for 12 weeks after the initiation of therapy. Delays or reductions in the administration of 5'FU or capecitabine due to adverse events were recorded as primary outcomes, and grade 3,4,5 adverse events were analyzed as secondary outcomes. \"Dose\" here refers to dose modification.; Note: the reported parameters for this SNP are really for a haplotype (the authors refer to it as a \"signature\") that includes any minor alleles for the following SNPs: rs3918290 (T), rs67376798 (A), rs75017182(C), rs56038477 (T).","sentence":"Genotype CG is associated with dose of capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype GG.","alleles":"CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756088,"variant_haplotypes":"rs8023369","gene":null,"drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4560372","article_title":"Association between CXCL10 and DPP4 Gene Polymorphisms and a Complementary Role for Unfavorable IL28B Genotype in Prediction of Treatment Response in Thai Patients with Chronic Hepatitis C Virus Infection","article_path":"articles/PMC4560372.md","variant_annotation_id":1446904218,"variant_haplotypes":"rs17848916","gene":"DPP4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b","pmid":26339796,"phenotype_category":"Efficacy","significance":"no","notes":"PEG-interferon alfa (2a and b) was co-adminstered with ribavirin. Response was assessed by sustained virological response (SVR) percent by genotype. Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AC is not associated with response to peginterferon alfa-2a or peginterferon alfa-2b in people with Hepatitis C, Chronic as compared to genotype AA.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4583245","article_title":"A Genome-Wide Association Study of a Biomarker of Nicotine Metabolism","article_path":"articles/PMC4583245.md","variant_annotation_id":1446903395,"variant_haplotypes":"rs12461964","gene":null,"drugs":"nicotine","pmid":26407342,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The minor allele was independently associated with decreased NMR, indicating decreased rate of nicotine clearance. rs56113850 and rs12461964 were in LD with CYP2A6*2, and esv2663194 (not annotated) was in LD with CYP2A6*9. rs56113850, rs12461964, and esv2663194 emerged as signals independently associated with NMR in GWAS and in conditional analyses. A fourth signal, rs113288603, was not significant in GWAS, but was significant after conditioning on the top associated SNP, rs56113850.","sentence":"Allele A is associated with decreased clearance of nicotine as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451114060,"variant_haplotypes":"rs6985606","gene":"OPRK1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy. Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2859392","article_title":"Effects of CYP2B6 G516T polymorphisms on plasma efavirenz and nevirapine levels when co-administered with rifampicin in HIV/TB co-infected Thai adults","article_path":"articles/PMC2859392.md","variant_annotation_id":1448993666,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":20338069,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in median CD4 T cell counts of each genotype at different time points was seen in efavirenz group (p = 0.818, 0.838, 0.783, 0.753 and 0.587 for baseline, weeks 12, 24, 36 and 48 of ART, respectively).","sentence":"Genotype TT is not associated with response to efavirenz in people with HIV Infections and Tuberculosis as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease, Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC4345005","article_title":"Effects of GRK5 and ADRB1 polymorphisms influence on systolic heart failure","article_path":"articles/PMC4345005.md","variant_annotation_id":1451868583,"variant_haplotypes":"rs2230345","gene":"GRK5","drugs":"Beta Blocking Agents","pmid":25638254,"phenotype_category":"Efficacy","significance":"not stated","notes":null,"sentence":"Genotype AT is not associated with response to Beta Blocking Agents in people with Heart Failure as compared to genotype AA.","alleles":"AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501792,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was only significant in the African American patients and not in Caucasian patients.","sentence":"Genotypes AA + AG are associated with increased clearance of carbamazepine in people with Epilepsy as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4921119","article_title":"Effects of CYP3A5 polymorphism on the pharmacokinetics of a once-daily modified-release tacrolimus formulation and acute kidney injury in hematopoietic stem cell transplantation","article_path":"articles/PMC4921119.md","variant_annotation_id":1448427598,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":27217047,"phenotype_category":"Dosage","significance":"yes","notes":"Patients were started on tacrolimus continuous infusion and then converted to once-daily oral intake. Intravenous infusion of micafungin was given during the neutropenic phase, then seven days after switching from tacrolimus continuous infusion to once-daily oral intake, antifungal agents were switched from intravenous micafungin to oral azole antifungal agents. Whole blood samples from the patients were collected 4-7 days after switching to once-daily tacrolimus oral dosing and then 4-7 days after switching from intravenous micafungin to oral azole antifungals. When patients were also taking azole antifungal agents, there was a significant difference in trough concentrations. When patients were NOT taking azole antifungal agents, there was no significant difference in trough concentrations (p=0.053).","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with decreased trough concentration of tacrolimus in people with hematopoietic stem cell transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hematopoietic stem cell transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC7999651","article_title":"SLCO1B1 Phenotype and CYP3A5 Polymorphism Significantly Affect Atorvastatin Bioavailability","article_path":"articles/PMC7999651.md","variant_annotation_id":1451448720,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"atorvastatin","pmid":33805706,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP3A5 *1/*3 and *3/*3 genotypes were associated with lower AUC/DW, Cmax/DW and tmax and to higher Cl/F compared to the *1/*1 genotype.","sentence":"CYP3A5 *1/*3 + *3/*3 are associated with decreased concentrations of atorvastatin in healthy individuals as compared to CYP3A5 *1/*1.","alleles":"*1/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC8767566","article_title":"Effect of HIV, antiretrovirals, and genetics on methadone pharmacokinetics: Results from the methadone antiretroviral pharmacokinetics study","article_path":"articles/PMC8767566.md","variant_annotation_id":1451516606,"variant_haplotypes":"rs2307424","gene":"NR1I3","drugs":"(R)-methadone","pmid":34482033,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Being HIV+, taking ART, presence of the rare ABCB1 rs2032582 T allele, and combined presence of the NR1I3 rs2307424 GG and rs3003596 GG genotypes if taking EFV each significantly increased R-methadone CL/F.\"","sentence":"Genotype GG is associated with increased clearance of (R)-methadone in people with HIV Infections.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4707035","article_title":"Evaluation of genetic association of neurodevelopment and neuroimmunological genes with antipsychotic treatment response in schizophrenia in Indian populations","article_path":"articles/PMC4707035.md","variant_annotation_id":1447681648,"variant_haplotypes":"rs4586","gene":"CCL2","drugs":"antipsychotics","pmid":26788534,"phenotype_category":"Efficacy","significance":"yes","notes":"In low severity schizophrenia patient subgroup","sentence":"Allele T is associated with decreased response to antipsychotics in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032025,"variant_haplotypes":"rs10835210","gene":"BDNF","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was statistically significant after permutation analysis based on 40,000 replicates, but not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction). Note; this SNP was in LD with rs7934165 (r^2>0.7) and not independent.","sentence":"Genotype CC is associated with increased dose of methadone in people with Heroin Dependence as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC4503103","article_title":"S4646 polymorphism in CYP19A1 gene is associated with the efficacy of hormone therapy in early breast cancer","article_path":"articles/PMC4503103.md","variant_annotation_id":1447987564,"variant_haplotypes":"rs4646","gene":"CYP19A1","drugs":"tamoxifen","pmid":26191232,"phenotype_category":"Efficacy","significance":"yes","notes":"Women were on tamoxifen (n=250) or on unnamed aromatase inhibitors (n=37). Disease free survival was compared at 62.7 weeks and 55.6 weeks follow-up for all women for all women, though different week comparisons were used for each significant association that was found. This association was significant in all women combined and the pre-menopausal subset, but not the post-menopausal subset. The AA genotype was associated with poorer disease free survival in post-menopausal women (p=0.005).","sentence":"Genotypes AA + AC are associated with increased response to tamoxifen in women with Breast Neoplasms as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3390407","article_title":"Genome-Wide Association Analysis in Asthma Subjects Identifies SPATS2L as a Novel Bronchodilator Response Gene","article_path":"articles/PMC3390407.md","variant_annotation_id":978639678,"variant_haplotypes":"rs295137","gene":"SPATS2L","drugs":"salbutamol","pmid":22792082,"phenotype_category":"Efficacy","significance":"no","notes":"These were two attempts to replicate the association (which did not reach significance) noted in the combined group from 6 clinical trials.","sentence":"Allele T is not associated with response to salbutamol in people with Asthma as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5975540","article_title":"Association Between ABCB1 Polymorphism and Stable Warfarin Dose Requirements in Brazilian Patients","article_path":"articles/PMC5975540.md","variant_annotation_id":1449575733,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":29875668,"phenotype_category":"Dosage","significance":"no","notes":"There were no significant differences in mean warfarin stable dose (mg/week) (+3 INR stable, no dose change) in the overall group or in the identified \"white\" subgroup. The self-identified \"non-white\" subgroup had slight differences in mean warfarin doses (ANOVA p= 0.048 CC = 29.2, CT = 33.1, TT = 33.0). Two self-reported \"non-white\" patients had the TT genotype.","sentence":"Allele T is not associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4113831","article_title":"Effectiveness of clopidogrel dose escalation to normalize active metabolite exposure and antiplatelet effects in CYP2C19 poor metabolizers","article_path":"articles/PMC4113831.md","variant_annotation_id":1184167146,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"clopidogrel","pmid":24710841,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Assays done in blood samples of six each of *1/*1 (EM),*1/*2(IM) and *2/*2(PM) [based on only assaying for *2; 2 EMs were *1/*17 and one IM was a *2/*17] were compared for MPA4 (maximal platelet aggregation 4 hrs post-dose) and for active metabolite area under the curve. For the EMs, this result was significant for both the 150 and 300 mg/day doses; for the IMs and PMs, it was significant for the 300 mg/day dose. At day 8, PMs needed 300 mg/day and IMs needed 150 mg/day to attain a similar MPA4 as EMs on the 75 mg/day dose.","sentence":"CYP2C19 *2 (assigned as poor metabolizer phenotype) is associated with increased dose of clopidogrel in healthy individuals as compared to CYP2C19 *1 (assigned as normal metabolizer phenotype) .","alleles":"*2","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5135610","article_title":"Genetic polymorphisms in the long noncoding RNA MIR2052HG offer a pharmacogenomic basis for the response of breast cancer patients to aromatase inhibitor therapy","article_path":"articles/PMC5135610.md","variant_annotation_id":1449002468,"variant_haplotypes":"rs13260300","gene":null,"drugs":"anastrozole, exemestane","pmid":27758888,"phenotype_category":"Efficacy","significance":"no","notes":"Patients included postmenopausal women with resected stage I\u2013III breast cancer that was ERa and/or PgR positive and randomized to five years of anastrozole or exemestane.","sentence":"Allele T is not associated with increased response to anastrozole and exemestane in women with Breast Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3550197","article_title":"Prolonged Toxicity after Amitriptyline Overdose in a Patient Deficient in CYP2D6 Activity","article_path":"articles/PMC3550197.md","variant_annotation_id":1446903324,"variant_haplotypes":"CYP2D6*4","gene":"CYP2D6","drugs":"amitriptyline","pmid":21614669,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Intentionally overdosed on amitriptyline. Subject (found comatose) displayed prolonged rising of serum total amitriptyline and nortriptyline concentrations for at least 6 days after admission.","sentence":"CYP2D6 *4/*4 is associated with increased concentrations of amitriptyline.","alleles":"*4/*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375589,"variant_haplotypes":"rs57449396","gene":"TBL1XR1","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele T is associated with decreased response to allopurinol as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5721751","article_title":"Genetic Variants Associated With Uncontrolled Blood Pressure on\u00a0Thiazide Diuretic/\u03b2\u2010Blocker Combination Therapy in the PEAR (Pharmacogenomic Evaluation of Antihypertensive Responses)\u00a0and INVEST (International Verapamil\u2010SR Trandolapril Study) Trials","article_path":"articles/PMC5721751.md","variant_annotation_id":1449576291,"variant_haplotypes":"rs35123024","gene":null,"drugs":"atenolol, hydrochlorothiazide","pmid":29097388,"phenotype_category":"Efficacy","significance":"not stated","notes":"Variant located near OR5H14. C allele associated with increased odds of uncontrolled blood pressure following thiazide diuretic/beta-blocker combination therapy. Variant only reached suggestive significance in discovery GWAS. Consistent direction of association found across discovery and replication cohorts but did not reach genome-wide significance in meta-analysis of all cohorts.","sentence":"Allele C is associated with decreased response to atenolol and hydrochlorothiazide in people with Hypertension as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4111883","article_title":"Characterisation of the Clinical Pharmacokinetics of Actinomycin D and the Influence of ABCB1 Pharmacogenetic Variation on Actinomycin D Disposition in Children with Cancer","article_path":"articles/PMC4111883.md","variant_annotation_id":1445296361,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"dactinomycin","pmid":24968986,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in actinomycin D clearance was seen between the genotypes (AA, AG, GG). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with clearance of dactinomycin in children with Neoplasms as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359577,"variant_haplotypes":"rs6356","gene":"TH","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of methadone in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11418302","article_title":"CYP2C19 genotype and sodium channel blockers in lacosamide-treated children with epilepsy: two major determinants of trough lacosamide concentration or clinical response","article_path":"articles/PMC11418302.md","variant_annotation_id":1452616165,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"lacosamide","pmid":39314259,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Additionally, the presence of the rs717620 (C\u2009>\u2009T) variant, located in ABCC2, was significantly associated with lower exposure levels in monotherapy (\u03b2\u2009=\u2009\u22120.305, p\u2009=\u20090.048; Table 2).\"","sentence":"Allele T is associated with decreased exposure to lacosamide in children with Epilepsy as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359521,"variant_haplotypes":"rs129882","gene":"DBH","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of methadone in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3555061","article_title":"Impact of the CYP2C8 *3 polymorphism on the drug\u2013drug interaction between gemfibrozil and pioglitazone","article_path":"articles/PMC3555061.md","variant_annotation_id":1449713480,"variant_haplotypes":"CYP2C8*1, CYP2C8*3","gene":"CYP2C8","drugs":"pioglitazone","pmid":22625877,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Specifically, *1/*1 is not associated with t1/2 (half-life) of pioglitazone as compared to *1/*3 + *3/*3.","sentence":"CYP2C8 *1/*1 is not associated with metabolism of pioglitazone in healthy individuals as compared to CYP2C8 *1/*3 + *3/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*3 + *3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC7292295","article_title":"Association between rs2275913 single\u2010nucleotide polymorphism of the interleukin\u201017A gene and perioperative analgesic use in cosmetic orthognathic surgery","article_path":"articles/PMC7292295.md","variant_annotation_id":1449716044,"variant_haplotypes":"rs2275913","gene":"IL17A","drugs":"opioids","pmid":30106258,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"Opioid dose requirements increased as the copy number of the A allele increased.","sentence":"Allele A is associated with increased dose of opioids in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4206345","article_title":"The MYLIP p.N342S polymorphism is associated with response to lipid-lowering therapy in Brazilian patients with familial hypercholesterolemia","article_path":"articles/PMC4206345.md","variant_annotation_id":1184747838,"variant_haplotypes":"rs9370867","gene":"MYLIP","drugs":"atorvastatin","pmid":25171759,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with with heterozygous familial hypercholesterolemia were treated with atorvastatin with the addition of ezetimibe in over half the patients. Patients carrying the AA genotype were more likely to achieve LDL-C levels of less than 130\u00bfmg/dl after 1 year of treatment (75.0%) compared with patients with the GG and GA genotypes (34.5 and 34.8%, respectively; P=0.001). AA genotype had a greater LDL-C response compared with GG genotype. The presence of the G allele was associated with a greater odds of not achieving the LDL-C target in; a multivariate model (OR = 2.08 per G allele, 95% confidence interval (CI) = 1.11-; 3.90, P=0.02).","sentence":"Genotype AA is associated with increased response to atorvastatin in people with Hypercholesterolemia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375648,"variant_haplotypes":"rs10193126","gene":"TRIB2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele C is associated with increased response to allopurinol as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4365300","article_title":"TRAF1/C5 but Not PTPRC Variants Are Potential Predictors of Rheumatoid Arthritis Response to Anti-Tumor Necrosis Factor Therapy","article_path":"articles/PMC4365300.md","variant_annotation_id":1444702654,"variant_haplotypes":"rs2476601","gene":"PTPN22","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":25834819,"phenotype_category":"Efficacy","significance":"no","notes":"using either the absolute change in DAS28 or the proportion of good responders and non-responders as outcomes.","sentence":"Allele A is not associated with decreased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4613221","article_title":"SLCO1B1 c.388A>G Polymorphism Is Associated with HDL-C Levels in Response to Atorvastatin in Chilean Individuals","article_path":"articles/PMC4613221.md","variant_annotation_id":1446896327,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"atorvastatin","pmid":26334272,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AG and GG genotype had a greater percent increase in high-density lipoprotein cholesterol (HDL-C) levels as compared to those with the AA genotype. However, no significant differences in percent changes between genotypes were seen for total cholesterol (p=0.81), low density lipoprotein cholesterol (LDL-C; p=0.27) or triglycerides (p=0.30). Patients were treated with atorvastatin for 4 weeks at 10 mg/day.","sentence":"Genotypes AG + GG is associated with increased response to atorvastatin in people with Hypercholesterolemia as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340080,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, this variant is associated with 21.6mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"Genotypes AA + AG are associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6448146","article_title":"Influence of Genetic Variants on Steady-State Etonogestrel Concentrations Among Contraceptive Implant Users","article_path":"articles/PMC6448146.md","variant_annotation_id":1450375830,"variant_haplotypes":"CYP3A7*1A, CYP3A7*1C","gene":"CYP3A7","drugs":"etonogestrel","pmid":30870275,"phenotype_category":"Efficacy, Metabolism/PK","significance":"no","notes":"\"Carriers of CYP3A7*1C had, on average, 23% lower etonogestrel concentrations; than participants with the wild-type genotype\" in contraceptive; implant users which may theoretically put them at risk for contraceptive failure. Corrected P-value cutoff of 5.0E-4 was not met.","sentence":"CYP3A7 *1C is associated with decreased steady-state concentration of etonogestrel in women as compared to CYP3A7 *1A/*1A.","alleles":"*1C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"steady-state concentration of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1A/*1A","comparison_metabolizer_types":null} +{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678304,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors evaluated daily dose and maintenance dose and calculated the means for each genotype. The AG genotype is associated with a higher mean daily dose of carbamazepine (CBZ). Mean CBZ daily dose (mg/day) for the AG genotype was 594.4 vs. 440.4-525.4 for the GG and CC genotypes, respectively. There were no significant differences in maintenance dose, however. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AG is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotypes AA + GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4600600","article_title":"Pharmacogenetics of Naltrexone And Disulfiram in Alcohol Dependent, Dually Diagnosed Veterans","article_path":"articles/PMC4600600.md","variant_annotation_id":1452096920,"variant_haplotypes":"rs1611115","gene":"DBH","drugs":"disulfiram","pmid":24724887,"phenotype_category":"Efficacy","significance":"yes","notes":"Veterans. Two-thirds had a lifetime history of major depressive disorder, 37% had a lifetime history of post-traumatic stress disorder. 65% took SSRIs and 39% took anticonvulsants. 84-day treatment period. \"DBH genotype interacted with disulfram (p=0.01) on drinks per drinking day with less drinking for subjects with the \u201cCC\u201d genotype than for T allele carriers on disulfiram.\"","sentence":"Genotype CC is associated with increased response to disulfiram in men with Alcoholism as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3846997","article_title":"A polymorphism in the histone deacetylase 1 gene is associated with the response to corticosteroids in asthmatics","article_path":"articles/PMC3846997.md","variant_annotation_id":1184514481,"variant_haplotypes":"rs1741981","gene":"HDAC1","drugs":"Corticosteroids For Systemic Use","pmid":24307847,"phenotype_category":"Efficacy","significance":"yes","notes":"Adults with the CC genotype showed significantly lower percent forced expiratory volume in 1 second (%FEV1) increases in response to systemic corticosteroids, as compared to those with the CT or TT genotype. Patients were treated for 7 days. Note that this allele was significantly related to asthma severity (same direction of association; corrected p=0.036).","sentence":"Genotype CC is associated with decreased response to Corticosteroids For Systemic Use in people with Asthma as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359651,"variant_haplotypes":"rs1042098","gene":"SLC6A3","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of methadone in people with Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4387236","article_title":"Genome-wide Association Study of Virologic Response with Efavirenz- or Abacavir-containing Regimens in AIDS Clinical Trials Group Protocols","article_path":"articles/PMC4387236.md","variant_annotation_id":1296598692,"variant_haplotypes":"rs374527","gene":null,"drugs":"efavirenz","pmid":25461247,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association with virologic failure is found for the combinations of CYP2B6 polymorphisms (rs3745274, rs28399499, and rs4803419).","sentence":"Allele G is not associated with response to efavirenz in people with HIV Infections as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557951,"variant_haplotypes":"rs2236225","gene":"MTHFD1","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5562097","article_title":"Race, Gender, and Genetic Polymorphism Contribute to Variability in Acetaminophen Pharmacokinetics, Metabolism, and Protein-Adduct Concentrations in Healthy African-American and European-American Volunteers","article_path":"articles/PMC5562097.md","variant_annotation_id":1448639925,"variant_haplotypes":"rs1902023","gene":"UGT2B15","drugs":"acetaminophen","pmid":28663312,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Clearance refers to apparent oral plasma clearance of acetaminophen and clearance of acetaminophen glucuronide. The A allele is also referred to as the *2 allele. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele A is associated with decreased clearance of acetaminophen in healthy individuals as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5963414","article_title":"Polymorphism of the dopamine transporter type 1 gene modifies the treatment response in Parkinson\u2019s disease","article_path":"articles/PMC5963414.md","variant_annotation_id":1444699877,"variant_haplotypes":"rs3836790","gene":"SLC6A3","drugs":"levodopa, methylphenidate","pmid":25805645,"phenotype_category":"Efficacy","significance":"yes","notes":"In a multivariate analysis adjusted for the dose of l-DOPA, the SLC6A3 rs3836790 genotype was strongly correlated with the motor UPDRS score ON l-DOPA (P = 0.002) the number of steps ON l-DOPA (P = 0.0003), the completion time OFF l-DOPA (P = 0.027), the completion time ON l-DOPA (P = 0.0009) and the number of freezing of gait episodes ON l-DOPA (P = 0.017).","sentence":"Genotype ACATACACACTCAGACACACATACCATGCA/ACATACACACTCAGACACACATACCATGCA is associated with increased response to levodopa and methylphenidate in people with Parkinson Disease as compared to genotypes ACATACACACTCAGACACACATACCATGCA/del + del/del.","alleles":"ACATACACACTCAGACACACATACCATGCA/ACATACACACTCAGACACACATACCATGCA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Parkinson Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"ACATACACACTCAGACACACATACCATGCA/del + del/del","comparison_metabolizer_types":null} +{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678493,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Efficacy","significance":"no","notes":"The authors evaluated the distribution of genotypes between individuals who developed resistance to carbamazepine (CBZ) and those who did not. There were no significant differences in genotype distributions between the two groups. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype GG is not associated with resistance to carbamazepine in people with Epilepsy as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5342670","article_title":"IL-3 and CTLA4 gene polymorphisms may influence the tacrolimus dose requirement in Chinese kidney transplant recipients","article_path":"articles/PMC5342670.md","variant_annotation_id":1448613179,"variant_haplotypes":"rs181781","gene":"IL3","drugs":"tacrolimus","pmid":28112181,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was significant in CYP3A5 nonexpressors but not in CYP3A5 expressers, although the trend is similar. The time of measurement was 30 and 90 days after transplantation. Day 7 after transplantation did not show a significant association.","sentence":"Genotype AA is associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC7086280","article_title":"Effect of ADRA2A gene polymorphisms on the anesthetic and analgesic effects of dexmedetomidine in Chinese Han women with cesarean section","article_path":"articles/PMC7086280.md","variant_annotation_id":1451146204,"variant_haplotypes":"rs201376588","gene":"ADRA2A","drugs":"dexmedetomidine","pmid":32256718,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CC genotype had significantly increased pain thresholds and significantly reduced VAS pain scores post-surgery than women with the CT or TT genotypes. There was no significant difference in pain thresholds between genotype group pre-surgery.","sentence":"Genotypes CT + TT are associated with decreased response to dexmedetomidine in women with Pain, Postoperative as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4168390","article_title":"Characterizing variability in warfarin dose requirements in children using modelling and simulation","article_path":"articles/PMC4168390.md","variant_annotation_id":1184654356,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":24330000,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"A model was created to predict maintenance doses for children of different ages, all with a baseline INR of 1 and a target INR of 2.5, based on longitudinal data from children taking warfarin. Due to the nature of the model, the quantitative CYP2C9 allele effects on clearance were assumed to be the same as for adults - no children had the *3/*3 genotype in the data cohort. CYP2C9 genotype, VKORC1 genotype, bodyweight, age, baseline INR, target INR and time since initiation of therapy were all found to be significant causes of warfarin dose variability in children. This association is based on a table presenting results from the model predicting warfarin dose for children of 2, 8 and 14 years old with different rs9923231 genotype and CYP2C9 genotype presented in the paper. CYP2C9*2 was defined as rs1799853 and CYP2C9*3 as rs1057910.","sentence":"CYP2C9 *3/*3 is associated with decreased dose of warfarin in children with Heart Diseases as compared to CYP2C9 *1/*1.","alleles":"*3/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC11208962","article_title":"A Nanopore Sequencing-based Pharmacogenomic Panel to Personalize Tuberculosis Drug Dosing","article_path":"articles/PMC11208962.md","variant_annotation_id":1452459560,"variant_haplotypes":"rs1803155","gene":"AADAC","drugs":"rifampin","pmid":38647526,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"RIF clearance was 16.5% (1.30-29.3) lower in individuals who were homozygous alternate for AADACrs1803155 G>A substitutions (p=0.0015; Figure 4, Figure E3).\"","sentence":"Genotype AA is associated with decreased clearance of rifampin in people with Tuberculosis as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6171340","article_title":"Pharmacogenetics of Antiepileptic Drug Efficacy in Childhood Absence Epilepsy","article_path":"articles/PMC6171340.md","variant_annotation_id":1451134046,"variant_haplotypes":"rs3747178","gene":"CACNA1I","drugs":"ethosuximide","pmid":28165634,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by minor allele (T) frequency in not\u2013seizure\u2010free vs seizure-free children.","sentence":"Allele T is associated with decreased clinical benefit to ethosuximide in children with Epilepsy as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Efficacy:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144207,"variant_haplotypes":"rs1611259","gene":null,"drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that this SNP is given the ID rs142425863 in the paper.","sentence":"Allele T is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5829963","article_title":"TCF7L2 Genetic Variation Augments Incretin Resistance and Influences Response to a Sulfonylurea and Metformin: The Study to Understand the Genetics of the Acute Response to Metformin and Glipizide in Humans (SUGAR-MGH)","article_path":"articles/PMC5829963.md","variant_annotation_id":1451105843,"variant_haplotypes":"rs7903146","gene":"TCF7L2","drugs":"metformin","pmid":29326107,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by decreases in fasting glucose compared to pre-treatment in people with risk factors for type 2 diabetes.","sentence":"Allele T is associated with increased response to metformin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4445755","article_title":"Genetic variants in combination with early partial improvement as a clinical utility predictor of treatment outcome in major depressive disorder: the result of two pooled RCTs","article_path":"articles/PMC4445755.md","variant_annotation_id":1447681351,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"milnacipran","pmid":25710119,"phenotype_category":"Efficacy","significance":"yes","notes":"depressive symptoms measured on Hamilton Rating Scale for Depression and outcome as change in symptoms, as measured 6 weeks after drug, following 10 days washout.","sentence":"Genotypes CC + CG are associated with increased response to milnacipran in people with Depressive Disorder as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3909010","article_title":"Pharmacogenetic-Based Efavirenz Dose Modification: Suggestions for an African Population and the Different CYP2B6 Genotypes","article_path":"articles/PMC3909010.md","variant_annotation_id":1183944291,"variant_haplotypes":"CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":24497997,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Steady-state plasma concentration from HIV infected patients treated with EFV were used to calculate baseline biochemistries, CD4 counts, and viral load. The authors used non-linear mixed effect modeling to create a PK model of efavirenz. Significant covariates predicted to affect PK of efavirenz were included in the final model.; CYP2B6*6 haplotype was considered a significant factors in covariate analysis and included in the final pharmacokinetic model.","sentence":"CYP2B6 *6 is associated with metabolism of efavirenz in people with HIV.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6989102","article_title":"Assessing the clinical impact of CYP2C9 pharmacogenetic variation on phenytoin prescribing practice and patient response in an integrated health system","article_path":"articles/PMC6989102.md","variant_annotation_id":1450969140,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"phenytoin","pmid":31461080,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Compared to CYP2C9 extensive metabolizers (*1/*1 by the absence of *2 or *3), high-intermediate metabolizers (*1/*2) had an 8.6 pg/mL increase in mean dose-ad- justed phenytoin blood concentrations [95% confidence interval (CI): 2.3\u201314.8pg/mL; P<0.01]","sentence":"CYP2C9 *1/*2 is associated with increased concentrations of phenytoin as compared to CYP2C9 *1/*1.","alleles":"*1/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2291274","article_title":"The CYP2D6 polymorphism in relation to the metabolism of amitriptyline and nortriptyline in the Faroese population","article_path":"articles/PMC2291274.md","variant_annotation_id":1446903489,"variant_haplotypes":"CYP2D6*4","gene":"CYP2D6","drugs":"amitriptyline","pmid":17764479,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Parameter: amitriptyline + nortriptyline/ dose or AT/dose or NT/dose. The study reports on CYP2D6PM (5) compared to EM (18) but diplotype was only reported for PM. 5 PMs (genotype as *4/*4) were included in the study.","sentence":"CYP2D6 *4/*4 is not associated with metabolism of amitriptyline as compared to CYP2D6 normal metabolizer.","alleles":"*4/*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5743122","article_title":"Pharmacogenetic guidance: individualized medicine promotes enhanced pain outcomes","article_path":"articles/PMC5743122.md","variant_annotation_id":1449296305,"variant_haplotypes":"rs1801131","gene":"MTHFR","drugs":"folic acid","pmid":29317847,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Please note that alleles have been complemented to the positive stand.; Case study of a patient with the A allele at rs1801133 and the G allele at rs1801131 who subsequently responded to folate supplementation.","sentence":"Allele G is associated with decreased metabolism of folic acid.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896085,"variant_haplotypes":"rs17220479","gene":"BRD2","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit). Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Allele T is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4820801","article_title":"Prediction of tacrolimus metabolism and dosage requirements based on CYP3A4 phenotype and CYP3A5*3 genotype in Chinese renal transplant recipients","article_path":"articles/PMC4820801.md","variant_annotation_id":1448640944,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":26924289,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The study also provided a regression equation to predict trough concentration and dose of tacrolimus based on CYP3A5 genotype, among other factors.","sentence":"CYP3A5 *3/*3 is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002481,"variant_haplotypes":"rs2236722","gene":"CYP19A1","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"not stated","notes":"pfSNP identified 2800 SNPS associated with key-words: 5-FU, capecitabine and oxilaplatin and colorectal cancer. Various criteria were used to determine 1536 SNPs to genotype. These SNPs were genotyped in a discovery cohort (N=62) and tested in a validation cohort (N=27). Both cohorts consisted of patients with colorectal cancer metastasis in liver. Five SNPs (rs2289310 G>T; rs1047840 G>A; rs17431184 T>C; rs17160359 G>T; rs2236722 A>G) were identified as distinguishing the \"non-responder\" phenotype from the \"responder\" phenotype when using a logistic regression multivariate model. The AUC for the receiver operating characteristic curve of the 5 SNPs is 0.875. This logistic-based multivariate model is said to be able to identify 39.1% of non-responders.","sentence":"Allele G is associated with decreased response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3114195","article_title":"IL28B genetic variations are associated with high sustained virological response (SVR) of interferon-\u03b1 plus ribavirin therapy in Taiwanese chronic HCV infection","article_path":"articles/PMC3114195.md","variant_annotation_id":1444705532,"variant_haplotypes":"rs10853728","gene":null,"drugs":"peginterferon alfa-2b, ribavirin","pmid":21346780,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype has decreased association with sustained virological response (SVR).","sentence":"Genotypes CG + GG is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3633658","article_title":"Pharmacogenetics for Genes Associated with Age-Related Macular Degeneration (AMD) in the Comparison of AMD Treatments Trials (CATT)","article_path":"articles/PMC3633658.md","variant_annotation_id":1183491577,"variant_haplotypes":"rs10490924","gene":"ARMS2","drugs":"bevacizumab, ranibizumab","pmid":23337555,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in mean visual acuity (units = letters), mean visual acuity change from baseline (units = letters), >= 15-letter increase from baseline (%), mean number of injections, retinal thickness (%, units = um), mean change in total foveal thickness from baseline (units = um), dry on optical coherence tomography (%), leakage on fluorescein angiography (%) or mean change in lesion size from baseline (units = disc area) after 1 year of treatment were seen between genotypes. p <= 0.01 was considered statistically significant to adjust for multiple comparisons.","sentence":"Genotype TT is not associated with response to bevacizumab or ranibizumab in people with Macular Degeneration as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679456,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"lansoprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the *1/*1 genotype had a significantly lower eradication rate of Helicobacter pylori (H. pylori), as compared to those with the *1/*2 or *1/*3 genotype. This was a meta-analysis and included 9 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received the antibiotics amoxicillin and clarithromycin as part of triple therapy.","sentence":"CYP2C19 *1/*1 is associated with decreased response to lansoprazole in people with Helicobacter Infections as compared to CYP2C19 *1/*2 + *1/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557945,"variant_haplotypes":"rs1127354","gene":"ITPA","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451974032,"variant_haplotypes":"rs2295795","gene":"TLN1","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with increased resistance to clopidogrel in people with Coronary Disease as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6939828","article_title":"Identification of Cytochrome P450 Polymorphisms in Burn Patients and Impact on Fentanyl Pharmacokinetics: A Pilot Study","article_path":"articles/PMC6939828.md","variant_annotation_id":1451099074,"variant_haplotypes":"CYP2D6*1, CYP2D6*29","gene":"CYP2D6","drugs":"fentanyl","pmid":30371861,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Single patient identified with the CYP2D6*29 allele. Clearance of fentanyl in this patient was significantly lower than in WT patients.","sentence":"CYP2D6 *29 is associated with decreased clearance of fentanyl in people with Burns as compared to CYP2D6 *1.","alleles":"*29","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Burns","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4444267","article_title":"Lack of Associations of CHRNA5-A3-B4 Genetic Variants with Smoking Cessation Treatment Outcomes in Caucasian Smokers despite Associations with Baseline Smoking","article_path":"articles/PMC4444267.md","variant_annotation_id":1444930282,"variant_haplotypes":"rs16969968","gene":"CHRNA5","drugs":"nicotine","pmid":26010901,"phenotype_category":"Dosage","significance":"yes","notes":"The A allele of rs16969968 was significantly associated with 10% higher cotinine levels, however it was not significantly with self-reported number of cigarettes per day (P = 0.30). Smokers carrying an \u2018A\u2019 allele of rs16969968 had significantly higher cotinine per cigarette (P = 0.002).","sentence":"Allele A is associated with increased dose of nicotine in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238661,"variant_haplotypes":"rs2247408","gene":"PLAGL1","drugs":"olanzapine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele C is associated with response to olanzapine in people with Schizophrenia.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5534241","article_title":"A Longitudinal HbA1c Model Elucidates Genes Linked to Disease Progression on Metformin","article_path":"articles/PMC5534241.md","variant_annotation_id":1448267827,"variant_haplotypes":"rs316009","gene":"SLC22A2","drugs":"metformin","pmid":27415606,"phenotype_category":"Efficacy","significance":"yes","notes":"using computational model-based approaches and genetic, demographic, and long-term HbA1c data from 1,056 patients.","sentence":"Genotype TT is associated with increased response to metformin in people with Diabetes Mellitus as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC10085626","article_title":"Novel and replicated clinical and genetic risk factors for toxicity from high-dose methotrexate in pediatric acute lymphoblastic leukemia","article_path":"articles/PMC10085626.md","variant_annotation_id":1452008000,"variant_haplotypes":"rs2838958","gene":"SLC19A1","drugs":"methotrexate","pmid":36764694,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"We identified one SNP associated with delayed MTX clearance and likely associated with; increased creatinine. Each additional A allele of rs2838958, an intronic variant of SLC19A1,; demonstrated an OR of 1.73 (95% CI 1.24-2.38) for prolonged MTX clearance and 1.35 (95% CI; 0.99-1.81) for increased creatinine (Table 5 and Figures 2).\"","sentence":"Allele A is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11347466","article_title":"Genetic variability of three common NK and \u03b3\u03b4 T cell receptor genes (FC\u03b33R, NCR3, and DNAM-1) and their role in Polish patients with rheumatoid arthritis and ankylosing spondylitis","article_path":"articles/PMC11347466.md","variant_annotation_id":1452472733,"variant_haplotypes":"rs1052248","gene":"NCR3","drugs":"adalimumab, certolizumab pegol, etanercept, infliximab, Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":38714580,"phenotype_category":"Efficacy","significance":"yes","notes":"\" a more favorable impact of the rs1052248 T allele was also seen in; RA patients concerning the anti-TNF treatment outcome\"","sentence":"Genotypes AT + TT is associated with increased clinical benefit to adalimumab, certolizumab pegol, etanercept, infliximab or Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to genotype AA.","alleles":"AT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238726,"variant_haplotypes":"rs9952628","gene":"SKOR2","drugs":"perphenazine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele G is associated with response to perphenazine in people with Schizophrenia.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10618485","article_title":"Elexacaftor-Tezacaftor-Ivacaftor in 2 cystic fibrosis adults homozygous for M1101K with end-stage lung disease","article_path":"articles/PMC10618485.md","variant_annotation_id":1452291702,"variant_haplotypes":"rs36210737","gene":"CFTR","drugs":"elexacaftor / tezacaftor / ivacaftor","pmid":37920361,"phenotype_category":"Efficacy","significance":"no","notes":"\"We report 2 cases of pwCF with the rare M1101K variant who have improvements in lung function, pulmonary exacerbation frequency, respiratory symptoms and BMI following 6 months of ETI CFTR modulator therapy.\" (mapped to rs36210737AA)","sentence":"Genotype AA is associated with increased clinical benefit to elexacaftor / tezacaftor / ivacaftor.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756037,"variant_haplotypes":"rs296766","gene":"AQP2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11246114","article_title":"Association of SLC22A1, SLC47A1, and KCNJ11 polymorphisms with efficacy and safety of metformin and sulfonylurea combination therapy in Egyptian patients with type 2 diabetes","article_path":"articles/PMC11246114.md","variant_annotation_id":1452538940,"variant_haplotypes":"rs2289669","gene":"SLC47A1","drugs":"\"metformin\", \"sulfonamides, urea derivatives\"","pmid":39005567,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The current study found that the A allele in MATE1 rs2289669 SNP was associated with a better metformin/sulfonylurea treatment response\"","sentence":"Allele A is associated with increased clinical benefit to metformin and sulfonamides, urea derivatives in people with Diabetes Mellitus, Type 2 as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479695,"variant_haplotypes":"rs472660","gene":"CYP3A43","drugs":"olanzapine","pmid":21519338,"phenotype_category":"Dosage, Efficacy, Toxicity, Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype AA is associated with increased clearance of olanzapine in people with Schizophrenia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3912955","article_title":"Polymorphism of the complement receptor 1 gene correlates with the hematologic response to eculizumab in patients with paroxysmal nocturnal hemoglobinuria","article_path":"articles/PMC3912955.md","variant_annotation_id":1184512008,"variant_haplotypes":"rs2274567","gene":"CR1","drugs":"eculizumab","pmid":24038027,"phenotype_category":"Efficacy","significance":"yes","notes":"Response was defined as no red blood cell transfusion at any time after the first 6 months on eculizumab treatment (patients had a median follow-up of 52 months, range of 11-98 months). In the paper, AA = His/His.","sentence":"Genotypes AG + GG is associated with decreased response to eculizumab in people with paroxysmal nocturnal hemoglobinuria as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:paroxysmal nocturnal hemoglobinuria","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5749387","article_title":"The influence of CYP3A5 polymorphisms on haloperidol treatment in patients with alcohol addiction","article_path":"articles/PMC5749387.md","variant_annotation_id":1449164008,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"6beta-hydroxycortisol","pmid":29343979,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No patients were found to have the TT genotype.; 6-beta-hydroxycortisol metabolism by CYP3A5 was used as a method of assessing CYP3A5 activity. No association between CYP3A5 activity and genotype at rs776746.; Please note that alleles have been complemented to the positive strand.","sentence":"Genotype CT is not associated with metabolism of 6beta-hydroxycortisol in men with Alcoholism as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157181,"variant_haplotypes":"rs2234918","gene":"OPRD1","drugs":"buprenorphine","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.","sentence":"Allele T is not associated with response to buprenorphine in people with Opioid-Related Disorders as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4716887","article_title":"Influence of ADME genomic variants on tacrolimus/sirolimus blood levels and GVHD after allogeneic hematopoietic cell transplantation","article_path":"articles/PMC4716887.md","variant_annotation_id":1447674588,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"sirolimus","pmid":26325438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients who were carriers of the A allele (i.e. genotypes AA, AT or AC) had higher median sirolimus levels as compared to non-A carriers (i.e. genotypes TT, CC or CT). Borderline significant findings were also observed for the dose-adjusted concentrations (C/D) of sirolimus (p=0.05). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is associated with increased concentrations of sirolimus in people with hematopoietic stem cell transplantation.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hematopoietic stem cell transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3940150","article_title":"Underlying genetic structure impacts the association between CYP2B6 polymorphisms and response to efavirenz and nevirapine","article_path":"articles/PMC3940150.md","variant_annotation_id":1448993530,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"efavirenz, non-nucleoside reverse transcriptase inhibitors","pmid":22951632,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to efavirenz or non-nucleoside reverse transcriptase inhibitors in women with HIV Infections as compared to genotype TT.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC1884342","article_title":"Identification of a novel splice-site mutation in the CYP1A2 gene","article_path":"articles/PMC1884342.md","variant_annotation_id":1452873500,"variant_haplotypes":"CYP1A2*7","gene":"CYP1A2","drugs":"clozapine","pmid":12919186,"phenotype_category":"Toxicity, Metabolism/PK","significance":"no","notes":"A 71-year-old, nonsmoking, Caucasian woman, hospitalized with a schizoaffective disorder, mania type diagnosis (ICD 10 F25.0), was suspected of presenting with an overdose of clozapine. Found to be heterozygote for CYP1A2*7. \"Only one heterozygous point mutation was identified in the donor splice site of intron 6 (3534G > A) of CYP1A2. This mutation could cause abnormal RNA splicing and therefore lead to a truncated nonfunctional enzyme.\" Pharmvar defines *7 as 3533G>A (rs56107638, splice defect) and this variant is in no other Pharmvar CYP1A2 core star allele.","sentence":"CYP1A2 *7 is associated with increased concentrations of clozapine in women with Schizoaffective disorder.","alleles":"*7","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Schizoaffective disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491199,"variant_haplotypes":"rs1995381","gene":"SV2C","drugs":"olanzapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype AA is not associated with response to olanzapine in people with Schizophrenia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6773496","article_title":"\u03b22-Adrenergic Receptor Gene Affects the Heart Rate Response of \u03b2-Blockers: Evidence From 3 Clinical Studies","article_path":"articles/PMC6773496.md","variant_annotation_id":1451107261,"variant_haplotypes":"rs1801253","gene":"ADRB1","drugs":"atenolol, metoprolol","pmid":31090079,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and response to atenolol or metoprolol, as measured by changes in heart rate, in black or white patients.","sentence":"Allele C is not associated with response to atenolol or metoprolol in people with Tachycardia as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tachycardia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166063,"variant_haplotypes":"rs4562","gene":"ELP5","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele A is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5432414","article_title":"ABC Transporter Polymorphisms are Associated with Irinotecan Pharmacokinetics and Neutropenia","article_path":"articles/PMC5432414.md","variant_annotation_id":1448435387,"variant_haplotypes":"rs10929302","gene":"UGT1A1","drugs":"SN-38","pmid":27845419,"phenotype_category":"Metabolism/PK","significance":"no","notes":"AUC of SN-38 was adjusted for irinotecan dose.","sentence":"Genotypes AG + GG are not associated with exposure to SN-38 in people with Colorectal Neoplasms as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5051541","article_title":"Using EHR-Linked Biobank Data to Study Metformin Pharmacogenomics","article_path":"articles/PMC5051541.md","variant_annotation_id":1452726057,"variant_haplotypes":"rs4621031","gene":"SLC47A2","drugs":"metformin","pmid":25991289,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. \"For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome.\" Table 2 shows rs4621031 as top SNP for SLC47A2","sentence":"Allele C is associated with decreased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472429,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"yes","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4116670","article_title":"OCT1 genetic variants influence the pharmacokinetics of morphine in children","article_path":"articles/PMC4116670.md","variant_annotation_id":1451097485,"variant_haplotypes":"rs34059508","gene":"SLC22A1","drugs":"morphine","pmid":23859569,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Children with two loss of function SLC22A1 alleles (*2 rs72552763 GAT>del, *3 rs12208357C>T, *4 rs34130495 G>A, or *5 rs34059508 G>A) were grouped together and had significantly lower clearance compared to children with the *1/*1 or *1/variant genotype.","sentence":"Genotype AA is associated with decreased clearance of morphine in children with adenotonsillectomy as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:adenotonsillectomy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6289816","article_title":"Diplotype analysis of NUDT15 variants and 6-mercaptopurine sensitivity in pediatric lymphoid neoplasms","article_path":"articles/PMC6289816.md","variant_annotation_id":1449750363,"variant_haplotypes":"NUDT15*1, NUDT15*3, NUDT15*5","gene":"NUDT15","drugs":"mercaptopurine","pmid":29967377,"phenotype_category":"Dosage, Toxicity","significance":"no","notes":"Doses were adjusted to give maintain a leukocyte count of 1500\u20133000 /\u00b5l. Mean dose for *1/*1, *1/*2, *1/*5 or *1/*6 was approximately 40mg/m2, and for *1/*3 was approx 20mg/m2 and for *3/*3 and *3/*5 was approx 5mg/m2.","sentence":"NUDT15 *3/*3 + *3/*5 is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to NUDT15 *1/*3 + *1/*1.","alleles":"*3/*3 + *3/*5","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*3 + *1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC7115450","article_title":"Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial","article_path":"articles/PMC7115450.md","variant_annotation_id":1451148582,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"escitalopram","pmid":31721892,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to escitalopram in people with Depression as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":827784981,"variant_haplotypes":"rs6438552","gene":"GSK3B","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":"Authors say not significant.","sentence":"Genotype GG is associated with increased response to lithium in people with Bipolar Disorder.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3030919","article_title":"Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes","article_path":"articles/PMC3030919.md","variant_annotation_id":1452582025,"variant_haplotypes":"rs11212617","gene":"C11orf65","drugs":"metformin","pmid":21186350,"phenotype_category":"Efficacy","significance":"not stated","notes":"For the second replication set in the UK cohort (Prospective Diabetes (UKPDS) cohort), study genotyped the proxy SNP rs609261 (r2 = 0.997 with rs11212617 in 5,197 WTCCC2 controls) for technical reasons.","sentence":"Allele C is associated with increased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928264,"variant_haplotypes":"rs3818929","gene":"SLC44A3","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7351433","article_title":"Polymorphisms within methotrexate pathway genes: Relationship between plasma methotrexate levels, toxicity experienced and outcome in pediatric acute lymphoblastic leukemia","article_path":"articles/PMC7351433.md","variant_annotation_id":1451553540,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methotrexate","pmid":32695297,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes AA + AG are associated with decreased response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144238,"variant_haplotypes":"rs7405404","gene":null,"drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele T is associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4002408","article_title":"Lack of effect of genetic polymorphisms of SLCO1B1 on the lipid-lowering response to pitavastatin in Chinese patients","article_path":"articles/PMC4002408.md","variant_annotation_id":1451451706,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"pitavastatin","pmid":20140004,"phenotype_category":"Efficacy","significance":"no","notes":"There was no statistical difference among patients with wild type, SLCO1B1 388A>G or SLCO1B1 521T>C in the lipid-lowering efficacy of pitavastatin in Chinese patients with essential hyperlipidemia.","sentence":"Genotypes AG + GG are not associated with response to pitavastatin in people with Hyperlipidemias as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hyperlipidemias","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4296935","article_title":"Warfarin Dosage Response Related Pharmacogenetics in Chinese Population","article_path":"articles/PMC4296935.md","variant_annotation_id":1444694686,"variant_haplotypes":"rs7294","gene":"VKORC1","drugs":"warfarin","pmid":25594941,"phenotype_category":"Dosage","significance":"yes","notes":"130 plasma samples were obtained 12 hours after the last dose of warfarin. rs7294 was associated with a significant reduction of warfarin plasma concentration (rs7294: CC 1117.29\u00b1323.23 ng/ml vs CT 1675.73\u00b1431.09 ng/ml, p < 0.001 ANOVA). rs7294 had significant effects on plasma concentration of warfarin (coefficient was 0.527, p < 0.001) and it could explain 26.7% of the variability in plasma concentration.The plasma warfarin concentrations of these samples were comparing plasma concentration within the group of patients with INR between 1.5\u20132.5 (n = 92). Patients were grouped according to INR and genotypes. For patients genotype CT or TT a higher plasma concentration was needed to achieve the goal INR.","sentence":"Genotype CC is associated with decreased concentrations of warfarin in people with heart valve replacement as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2564574","article_title":"Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation","article_path":"articles/PMC2564574.md","variant_annotation_id":827649690,"variant_haplotypes":"rs7294","gene":"PRSS53, VKORC1","drugs":"warfarin","pmid":16611750,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with increased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5983535","article_title":"The OPRM1 A118G polymorphism: converging evidence against associations with alcohol sensitivity and consumption","article_path":"articles/PMC5983535.md","variant_annotation_id":1450371982,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":29497164,"phenotype_category":"Toxicity","significance":"no","notes":"There was no significant association between the G allele and subjective response to ethanol, craving, rate of binging or total alcohol exposure.","sentence":"Allele G is not associated with response to ethanol in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2432487","article_title":"Effect of CYP2C19*2 and *17 mutations on pharmacodynamics and kinetics of proton pump inhibitors in Caucasians","article_path":"articles/PMC2432487.md","variant_annotation_id":1183623395,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"lansoprazole, omeprazole","pmid":18241283,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in area under the concentration-time curve (AUC) was seen between the two genotypes in subjects taking omeprazole (10 mg/day) or lansoprazole (15 mg/day). Subjects were treated with either drug for 6 days, in a crossover fashion; AUC was measured on day 1 after initiation of treatment.","sentence":"CYP2C19 *1/*1 is not associated with metabolism of lansoprazole or omeprazole in healthy individuals as compared to CYP2C19 *1/*2.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC4525256","article_title":"Leveraging an Electronic Health Record-Linked Biorepository to Generate a Metformin Pharmacogenomics Hypothesis","article_path":"articles/PMC4525256.md","variant_annotation_id":1446903446,"variant_haplotypes":"rs1920145","gene":null,"drugs":"metformin","pmid":26306225,"phenotype_category":"Efficacy","significance":"no","notes":"EHR-linked and EHR-based phenotyping methods were used to study common variants within FMO5. Efficacy was assessed by A1c levels extracted from EHR records.","sentence":"Allele C is not associated with response to metformin in people with Diabetes Mellitus as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC11152251","article_title":"Effect of SCN1Aand SCN2A gene polymorphisms on the efficacy of valproic acid treatment in Chinese children with epilepsy","article_path":"articles/PMC11152251.md","variant_annotation_id":1452498427,"variant_haplotypes":"rs2298771","gene":"SCN1A","drugs":"valproic acid","pmid":38837984,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Our study found a significant association between SCN1A rs2298771 T > C and drug response in both VPA monotherapy and VPA polypharmacy. Patients carrying the rs2298771 TT genotype displayed heightened sensitivity to VPA treatment, resulting in improved seizure control compared to CT and CC genotype carriers.\"","sentence":"Genotype TT is associated with increased clinical benefit to valproic acid in children with Epilepsy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3991683","article_title":"IFNL4 ss469415590 Variant Shows Similar Performance to rs12979860 as Predictor of Response to Treatment against Hepatitis C Virus Genotype 1 or 4 in Caucasians","article_path":"articles/PMC3991683.md","variant_annotation_id":1184985914,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, ribavirin","pmid":24748394,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients were infected with HCV genotype 1 or 4. Sustained viral response (SVR) was defined as undetectable plasma HCV RNA 24 weeks after the completion of treatment. The two SNPs rs12979860 (IL28B) and rs368234815 (IFNL4) are in strong LD (r squared of 0.82).; The SNPs were also tested by HCV genotype (1 or 4) and were both equally predictive.; The AUROC model that included rs12979860 was 0.742 (95% CI: 0.672-0.813)","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC8673616","article_title":"Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences","article_path":"articles/PMC8673616.md","variant_annotation_id":1451679260,"variant_haplotypes":"rs10485058","gene":"OPRM1","drugs":"methadone","pmid":34910759,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC7235792","article_title":"Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates","article_path":"articles/PMC7235792.md","variant_annotation_id":1451147640,"variant_haplotypes":"CYP3A4*1, CYP3A4*3, CYP3A4*20, CYP3A4*22","gene":"CYP3A4","drugs":"fentanyl, imatinib, quetiapine","pmid":32331352,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"AUC of all three drugs was increased in the presence of CYP3A4 variants. Statistical analysis was not carried out for individual drugs due to the low number of subjects carrying CYP3A4 variants. *3 allele was identified using rs4986910, *20 was identified using rs67666821 and *22 was identified using rs35599367.","sentence":"CYP3A4 *3 + *20 + *22 are associated with increased exposure to fentanyl, imatinib or quetiapine in healthy individuals as compared to CYP3A4 *1.","alleles":"*3 + *20 + *22","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491245,"variant_haplotypes":"rs7732173","gene":"SV2C","drugs":"risperidone","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score. In significant LD (r2 > 0.95) with rs10514062 and rs2358531.","sentence":"Genotype AA is not associated with response to risperidone in people with Schizophrenia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5098919","article_title":"Association of Cytochrome P450 Genetic Variants with Clopidogrel Resistance and Outcomes in Acute Ischemic Stroke","article_path":"articles/PMC5098919.md","variant_annotation_id":1447949770,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"clopidogrel","pmid":26961113,"phenotype_category":"Efficacy","significance":"yes","notes":"Frequency of CC+TC genotypes was significantly higher in clopidogrel-resistant patients than in clopidogrel-sensitive patients.","sentence":"Genotypes CC + CT are associated with increased resistance to clopidogrel in people with Stroke as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Stroke","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4921119","article_title":"Effects of CYP3A5 polymorphism on the pharmacokinetics of a once-daily modified-release tacrolimus formulation and acute kidney injury in hematopoietic stem cell transplantation","article_path":"articles/PMC4921119.md","variant_annotation_id":1448427616,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":27217047,"phenotype_category":"Dosage","significance":"yes","notes":"Patients were started on tacrolimus continuous infusion and then converted to once-daily oral intake. Intravenous infusion of micafungin was given during the neutropenic phase, then seven days after switching from tacrolimus continuous infusion to once-daily oral intake, antifungal agents were switched from intravenous micafungin to oral azole antifungal agents. Whole blood samples from the patients were collected 4-7 days after switching to once-daily tacrolimus oral dosing and then 4-7 days after switching from intravenous micafungin to oral azole antifungals. When patients were also taking azole antifungal agents, there was a significant difference in dose. When patients were NOT taking azole antifungal agents, there was no significant difference in dose (p=0.965).","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased dose of tacrolimus in people with hematopoietic stem cell transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hematopoietic stem cell transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755977,"variant_haplotypes":"rs7251786","gene":"TMEM205","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472436,"variant_haplotypes":"rs2359612","gene":"VKORC1","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"yes","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3521860","article_title":"Modifying Role of Serotonergic 5-HTTLPR & TPH2 Variants on Disulfiram Treatment of Cocaine Addiction: A Preliminary Study","article_path":"articles/PMC3521860.md","variant_annotation_id":1452010740,"variant_haplotypes":"rs4290270","gene":"TPH2","drugs":"disulfiram","pmid":22925276,"phenotype_category":"Efficacy","significance":"yes","notes":"There was no difference between disulfiram treatment and placebo for the TT homozygotes but the AT/TT group had lower cocaine positive urines during treatment compared to placebo.","sentence":"Genotypes AA + AT is associated with increased response to disulfiram in people with Cocaine-Related Disorders as compared to genotype TT (assigned as high activity phenotype) .","alleles":"AA + AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cocaine dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":"high activity"} +{"pmcid":"PMC6745302","article_title":"A functional variant in the serotonin receptor 7 gene (HTR7), rs7905446, is associated with good response to SSRIs in bipolar and unipolar depression","article_path":"articles/PMC6745302.md","variant_annotation_id":1450372728,"variant_haplotypes":"rs7905446","gene":"HTR7","drugs":"escitalopram, nortriptyline","pmid":30874608,"phenotype_category":"Efficacy","significance":"no","notes":"Although there was no significant association of this variant with treatment response in the combined group of patients treated with escitalopram or nortriptyline, there was a significant association in the group of escitalopram-treated patients.","sentence":"Genotype TT is not associated with response to escitalopram or nortriptyline in people with Depression as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238689,"variant_haplotypes":"rs221253","gene":"PTPRN2","drugs":"olanzapine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele C is associated with response to olanzapine in people with Schizophrenia.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811918,"variant_haplotypes":"rs681243","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. The T allele was associated with increased scores in the buzzed, clumsy, dizzy and nausea traits as well as increased total score on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele T is associated with increased response to ethanol as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC524175","article_title":"Single nucleotide polymorphisms in the apolipoprotein B and low density lipoprotein receptor genes affect response to antihypertensive treatment","article_path":"articles/PMC524175.md","variant_annotation_id":655387073,"variant_haplotypes":"rs1367117","gene":"APOB","drugs":"irbesartan","pmid":15453913,"phenotype_category":"Efficacy, Metabolism/PK","significance":"yes","notes":"reduction in systolic blood pressure. Treatment was with 150 mg/day for 12 weeks. The dose was doubled; after six weeks if the diastolic blood pressure was >= 90; mm Hg. Avg reduction in G carriers was 14 mm Hg.","sentence":"Genotype AG is associated with response to irbesartan in people with Hypertension.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715484,"variant_haplotypes":"rs7668282","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Efficacy","significance":"no","notes":"There was no significant difference in PPLpost-PPLpre between the genotype groups.","sentence":"Allele C is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6927671","article_title":"Common polymorphisms of CYP2B6 influence stereoselective bupropion disposition","article_path":"articles/PMC6927671.md","variant_annotation_id":1449564030,"variant_haplotypes":"CYP2B6*1, CYP2B6*4, CYP2B6*6","gene":"CYP2B6","drugs":"bupropion","pmid":29756345,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Carriers of CYP2B6*4 allele had increased hydroxylation of both bupropion enantiomers, assessed by plasma hydroxybupropion/bupropion AUC ratios and urine hydroxybupropion formation clearances. \"Median hydroxybupropion/bupropion AUC ratios in CYP2B6*4/X and CYP2B6*1/*1 subjects were 53 (36, 71) and 21 (15, 25) for R,R-hydroxybupropion, 3.4 (2.7, 4.7) and 2.1 (1.6, 2.7) for S,S-hydroxybupropion, and 37 (24, 52) and 15 (10, 18) for total hydroxybupropion.\"","sentence":"CYP2B6 *1/*4 + *4/*6 are associated with increased metabolism of bupropion in healthy individuals as compared to CYP2B6 *1/*1.","alleles":"*1/*4 + *4/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5563830","article_title":"Association of ABCB1 Gene Polymorphisms with Efficacy and Adverse Reaction to Risperidone or Paliperidone in Han Chinese Schizophrenic Patients","article_path":"articles/PMC5563830.md","variant_annotation_id":1448604036,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"risperidone","pmid":27456824,"phenotype_category":"Efficacy","significance":"no","notes":"Alleles given as reverse strand G, A and T. Efficacy measured with reduction in PANSS total score reduced rate. No difference found in PANSS reduction in any genotype.","sentence":"Genotype CC is not associated with response to risperidone in people with Schizophrenia as compared to genotype AA.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715464,"variant_haplotypes":"rs4235108","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Efficacy","significance":"no","notes":"There was no significant difference in PPLpost-PPLpre between the genotype groups.","sentence":"Allele A is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934341,"variant_haplotypes":"rs398123212","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the T allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Gly183Asp in the paper.","sentence":"Allele T is associated with increased response to migalastat in people with Fabry Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3537445","article_title":"Impact of UGT1A1 Gilbert Variant on Discontinuation of Ritonavir-Boosted Atazanavir in AIDS Clinical Trials Group Study A5202","article_path":"articles/PMC3537445.md","variant_annotation_id":1451163993,"variant_haplotypes":"UGT1A1*1, UGT1A1*28, UGT1A1*36","gene":"UGT1A1","drugs":"atazanavir / ritonavir","pmid":23148286,"phenotype_category":"Toxicity","significance":"yes","notes":"There was an association between *28/*28 (TA7 and TA8 combined) and increased ritonavir-boosted atazanavir discontinuation among Hispanic participants (P = .005) but not among white or black participants (P = .79 and P = .46, respectively). \"Genotyping of UGT1A1 rs8175347...*36 (TA)5, *1 (TA)6, *28 (TA)7, and *37 (TA)8.\" \"On the basis of the low expected frequencies of UGT1A1*36 (TA)5 and *37 (TA)8 and their known effects on UGT1A1 expression, UGT1A1*36 (TA)5 and *37 (TA)8 were grouped with *1 (TA)6 and *28 (TA)7 alleles, respectively. This provided a 3-level ordered genotype based on (allele 1)/(allele 2): (*1 or *36)/(*1 or *36), (*1 or *36)/(*28* or *37), and (*28* or *37)/(*28* or *37). These are hereafter referred to as *1/*1, *1/*28*, and 28*/*28*, respectively.\" \" Participants were randomly assigned to receive open-label 300-mg atazanavir plus 100-mg ritonavir or 600-mg efavirenz, with placebo controlled 600-mg abacavir 300-mg lamivudine or 300-mg tenofovir DF 200-mg emtricitabine.\" NCT00118898","sentence":"UGT1A1 *28/*28 is associated with increased discontinuation of atazanavir / ritonavir in people with HIV Infections as compared to UGT1A1 *1/*1 + *1/*28 + *1/*36 + *36/*36.","alleles":"*28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*28 + *1/*36 + *36/*36","comparison_metabolizer_types":null} +{"pmcid":"PMC7375952","article_title":"Genetic variants in CYP2A6 and UGT1A9 genes associated with urinary nicotine metabolites in young Mexican smokers","article_path":"articles/PMC7375952.md","variant_annotation_id":1451409700,"variant_haplotypes":"rs145014075","gene":"CYP2A6","drugs":"nicotine","pmid":31959879,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Participants with the GT genotype had significantly higher creatinine-adjusted levels of nicotine.","sentence":"Genotype GT is associated with increased concentrations of nicotine as compared to genotype GG.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5606007","article_title":"Novel variants in NUDT15 and thiopurine intolerance in children with acute lymphoblastic leukemia from diverse ancestry","article_path":"articles/PMC5606007.md","variant_annotation_id":1448635118,"variant_haplotypes":"rs766023281","gene":"NUDT15","drugs":"mercaptopurine","pmid":28659275,"phenotype_category":"Dosage, Toxicity","significance":"no","notes":"The variant was recurrent in two patients: one from Taiwan and one from Singapore. Both patients tolerated very low doses of mercaptopurine (17.9 and16.4 mg/m /day). Nucleotide diphosphotase activity could not be detected in in vitro studies.","sentence":"Allele C is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166269,"variant_haplotypes":"rs11552708","gene":"SENP3","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele A is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5249113","article_title":"Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis","article_path":"articles/PMC5249113.md","variant_annotation_id":1448995956,"variant_haplotypes":"rs2233945","gene":"PSORS1C1","drugs":"adalimumab","pmid":28107378,"phenotype_category":"Efficacy","significance":"no","notes":"No significant associations were seen at six months after the beginning of treatment when response was measured as number of patients in remission or with low disease activity or by EULAR score.; A significant association was seen at two years after treatment when response was measured by EULAR score however this significance was lost after correction for multiple variables. No significant association was seen at two years after treatment when response was measured as the number of patients in remission or with low disease activity.","sentence":"Allele A is not associated with response to adalimumab in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5546852","article_title":"Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention","article_path":"articles/PMC5546852.md","variant_annotation_id":1448617603,"variant_haplotypes":"rs6719578","gene":null,"drugs":"metformin","pmid":28453780,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects were at high risk of diabetes and were recruited from Diabetes Prevention Program (DPP) and were followed for a year. The authors measured changes in response to insulin at baseline and one year after treatment. The C allele was significantly associated with response to Metformin (vs. Placebo).","sentence":"Genotype CG is associated with increased response to metformin as compared to genotype GG.","alleles":"CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4444267","article_title":"Lack of Associations of CHRNA5-A3-B4 Genetic Variants with Smoking Cessation Treatment Outcomes in Caucasian Smokers despite Associations with Baseline Smoking","article_path":"articles/PMC4444267.md","variant_annotation_id":1444930247,"variant_haplotypes":"rs588765","gene":"CHRNA5","drugs":"nicotine, varenicline","pmid":26010901,"phenotype_category":"Efficacy","significance":"no","notes":"Response here refers to smoking cessation outcomes at 7 days and nicotine refers to nicotine patches. Smoking cessation outcomes at 6 months and 12 months were also not significantly associated with genotype.","sentence":"Genotype TT is not associated with response to nicotine or varenicline in people with Tobacco Use Disorder as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4201132","article_title":"Gene Variants in CYP2C19 Are Associated with Altered In Vivo Bupropion Pharmacokinetics but Not Bupropion-Assisted Smoking Cessation Outcomes","article_path":"articles/PMC4201132.md","variant_annotation_id":1184985821,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"bupropion","pmid":25187485,"phenotype_category":"Efficacy","significance":"no","notes":"There was no association between CYP2C19 variants and the efficacy of bupropion to promote cessation of smoking in African-American smokers. 270 patients were treated with placebo and 270 patients were treated with bupropion. Patients in the treatment arm were given 150 mg once a day of bupropion for 3 days then 150mg twice a day for seven weeks.","sentence":"CYP2C19 *2 + *17 are not associated with response to bupropion in people with Tobacco Use Disorder as compared to CYP2C19 *1.","alleles":"*2 + *17","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2952572","article_title":"Apolipoprotein B genetic variants modify the response to fenofibrate: a GOLDN study","article_path":"articles/PMC2952572.md","variant_annotation_id":981500768,"variant_haplotypes":"rs676210","gene":"APOB","drugs":"fenofibrate","pmid":20724655,"phenotype_category":"Efficacy","significance":"yes","notes":"AA genotype participants had greater lowering of triglycerides than did AG or GG individuals.","sentence":"Genotype AA is associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934482,"variant_haplotypes":"rs190347120","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the A allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Asp264Tyr in the paper.","sentence":"Allele A is associated with increased response to migalastat in people with Fabry Disease.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC9610285","article_title":"Polymorphism of Drug Transporters, Rather Than Metabolizing Enzymes, Conditions the Pharmacokinetics of Rasagiline","article_path":"articles/PMC9610285.md","variant_annotation_id":1452852940,"variant_haplotypes":"rs762551","gene":"CYP1A2","drugs":"rasagiline","pmid":36297437,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"Rasagiline pharmacokinetic parameters based on CYP1A2 diplotypes are shown in Table 4. No significant associations were observed. \" \"The most prevalent allele was *1F (53%),the most prevalent diplotypes were *1F/*1F (33%) and *1B/*1F (31%)\" *1F=*30=rs762551 (-163) C>A (PharmVar 2024). Article included diplotypes based on the following alleles *1B, *1C, *1E, *1F, *1G, *1J, *1K, *1L, *1N. After CYP1A2 full transition into PharmVar (12/2024) *1B is assigned under the *1 core allele. *1C, *1E, *1G, *1J, *1K were not transferred to the PharmVar CYP1A2 nomenclature and *1F, *1L, *1N are grouped under *30. Annotation done on rs762551. The -163C>A SNP by itself is the core allele definition for *30, however, -163C>A is included in several other core alleles (25 different CYP1A2 core alleles in addition to *30, as of 02/2025).","sentence":"Genotype AA is not associated with clearance of rasagiline in healthy individuals.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4265416","article_title":"Haplotypes of P2RX7 gene polymorphisms are associated with both cold pain sensitivity and analgesic effect of fentanyl","article_path":"articles/PMC4265416.md","variant_annotation_id":1450821482,"variant_haplotypes":"rs7132846","gene":"P2RX7","drugs":"fentanyl","pmid":25472448,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and 24-h postoperative fentanyl use or perioperative fentanyl use.","sentence":"Allele T is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC9820795","article_title":"The MAOA rs979605 Genetic Polymorphism Is Differentially Associated with Clinical Improvement Following Antidepressant Treatment between Male and Female Depressed Patients","article_path":"articles/PMC9820795.md","variant_annotation_id":1451987761,"variant_haplotypes":"rs1799836","gene":"MAOB","drugs":"5-hydroxyindole-3-acetic acid, serotonin","pmid":36613935,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"TT/T females/males had a significantly higher 5HIAA/5HT ratio (2.79 \u00b1 0.27) compared to CC/C females/males (2.18 \u00b1 0.28) following Bonferroni correction\"","sentence":"Allele T is associated with increased concentrations of 5-hydroxyindole-3-acetic acid and serotonin in men with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in men with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2919241","article_title":"Impact of CYP2B6, ABCB1 and CYP3A5 Polymorphisms on Efavirenz Pharmacokinetics and Treatment Response: An AIDS Clinical Trials Group Study","article_path":"articles/PMC2919241.md","variant_annotation_id":655387331,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"efavirenz","pmid":20662624,"phenotype_category":"Other, Metabolism/PK","significance":"no","notes":"Analyses comprised 831 subjects (19% female, 48% white, 34% black, and 18% Hispanic)","sentence":"Allele A is not associated with decreased response to efavirenz in people with Acquired Immunodeficiency Syndrome.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Acquired Immunodeficiency Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4274707","article_title":"IFNL4 ss469415590 Variant Is Associated with Treatment Response in Japanese HCV Genotype 1 Infected Individuals Treated with IFN-Including Regimens","article_path":"articles/PMC4274707.md","variant_annotation_id":1444843667,"variant_haplotypes":"rs11322783","gene":"IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":25548683,"phenotype_category":"Efficacy","significance":"yes","notes":"in Japanese hepatitis C genotype 1 patients.","sentence":"Genotype TT/TT is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to genotypes G/TT + GG.","alleles":"TT/TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G/TT + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163284,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6786370","article_title":"Influences of an NR1I2 polymorphism on heterogeneous antiplatelet reactivity responses to clopidogrel and clinical outcomes in acute ischemic stroke patients","article_path":"articles/PMC6786370.md","variant_annotation_id":1450117776,"variant_haplotypes":"rs2254638","gene":"N6AMT1","drugs":"clopidogrel","pmid":30487649,"phenotype_category":"Efficacy","significance":"yes","notes":"This variant is associated with decreased H4 concentration, and decreased antiplatelet effects of clopidogrel with a higher PRU.","sentence":"Allele G is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4484512","article_title":"Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis","article_path":"articles/PMC4484512.md","variant_annotation_id":1449192136,"variant_haplotypes":"rs80034486","gene":"CFTR","drugs":"lumacaftor","pmid":26137539,"phenotype_category":"Efficacy","significance":"no","notes":"N1303K allele. Study carried out using primary bronchial epithelial cells from donors with cystic fibrosis. Secretion of chloride ions across the cell membrane was measured to determine CFTR activity.; Cells had the CFTR genotype N1303K/G542X. As the G542X allele does not generate a protein molecule, these cells were used to assess the effects of lumacaftor on the N1303K allele only.","sentence":"Allele G is not associated with response to lumacaftor.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5346878","article_title":"Tacrolimus dose requirements in paediatric renal allograft recipients are characterized by a biphasic course determined by age and bone maturation","article_path":"articles/PMC5346878.md","variant_annotation_id":1449171419,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"tacrolimus","pmid":27966227,"phenotype_category":"Metabolism/PK","significance":"no","notes":"As compared to AC, CT and AT genotypes. Dose-corrected tacrolimus exposure (AUC0-12/doseBW). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype AA is not associated with concentrations of tacrolimus in children with Kidney Transplantation.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5980466","article_title":"Population pharmacokinetics and pharmacogenomics of apixaban in Japanese adult patients with atrial fibrillation","article_path":"articles/PMC5980466.md","variant_annotation_id":1449191972,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"apixaban","pmid":29457840,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":null,"sentence":"Genotypes CT + TT is associated with increased clearance of apixaban in people with Atrial Fibrillation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3383686","article_title":"Meta-Analysis on Pharmacogenetics of Platinum-Based Chemotherapy in Non Small Cell Lung Cancer (NSCLC) Patients","article_path":"articles/PMC3383686.md","variant_annotation_id":982046427,"variant_haplotypes":"rs11615","gene":"ERCC1","drugs":"Platinum compounds","pmid":22761669,"phenotype_category":"Efficacy","significance":"no","notes":"No significant relationship between genotype and drug response was detected.","sentence":"Allele G is not associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5323433","article_title":"Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer","article_path":"articles/PMC5323433.md","variant_annotation_id":1448492904,"variant_haplotypes":"rs9332978","gene":"CYP4A11","drugs":"exemestane","pmid":27549341,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in exemestane concentrations were seen between the genotypes. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype CT is not associated with concentrations of exemestane in women with Breast Neoplasms as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3403289","article_title":"CHRNB2 Promoter Region: Association with subjective effects to nicotine and expression differences","article_path":"articles/PMC3403289.md","variant_annotation_id":981483844,"variant_haplotypes":"rs2229959","gene":"CHRNA4","drugs":"nicotine","pmid":20854418,"phenotype_category":"Other","significance":"yes","notes":"Response(sweating, heart pounding and nausea) to the first experimental cigarette was measured using the NEQ(nicotine effects scale).","sentence":"Allele C is associated with increased response to nicotine in people with daily smoking as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:daily smoking","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3997354","article_title":"Genetic Polymorphism of Cytochrome P450 4F2, Vitamin E Level and Histological Response in Adults and Children with Nonalcoholic Fatty Liver Disease Who Participated in PIVENS and TONIC Clinical Trials","article_path":"articles/PMC3997354.md","variant_annotation_id":1184472059,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"vitamin e","pmid":24759732,"phenotype_category":"Efficacy","significance":"no","notes":"The T allele is not significantly associated with improvement in liver histology in pediatric or adult patients receiving vitamin E (alpha-tocopherol) supplements at week 48 or at week 96.","sentence":"Allele T is not associated with response to vitamin e in people with Fatty liver disease as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fatty liver disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3776990","article_title":"S-1 plus irinotecan and oxaliplatin for the first-line treatment of patients with metastatic colorectal cancer: a prospective phase II study and pharmacogenetic analysis","article_path":"articles/PMC3776990.md","variant_annotation_id":1184510958,"variant_haplotypes":"CYP2A6*1, CYP2A6*4, CYP2A6*7, CYP2A6*9","gene":"CYP2A6","drugs":"irinotecan, oxaliplatin, tegafur / gimeracil / oteracil","pmid":23963147,"phenotype_category":"Efficacy","significance":"yes","notes":"The objective response rate was significantly lower in patients carrying CYP2A6 variant alleles compared to those with no variant alleles.","sentence":"CYP2A6 *4 + *7 + *9 are associated with decreased response to irinotecan, oxaliplatin and tegafur / gimeracil / oteracil in people with Colorectal Neoplasms as compared to CYP2A6 *1/*1.","alleles":"*4 + *7 + *9","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5411211","article_title":"Associations between P2RY12 gene polymorphisms and risks of clopidogrel resistance and adverse cardiovascular events after PCI in patients with acute coronary syndrome","article_path":"articles/PMC5411211.md","variant_annotation_id":1448613376,"variant_haplotypes":"rs6785930","gene":"P2RY12","drugs":"clopidogrel","pmid":28383427,"phenotype_category":"Efficacy","significance":"yes","notes":"in Chinese patients with acute coronary syndrome undergoing PCI. This variant is also called P2RY12 C34T.","sentence":"Genotypes AA + AG is associated with increased resistance to clopidogrel as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4278770","article_title":"Oxidative Stress-Related Genetic Polymorphisms Are Associated with the Prognosis of Metastatic Gastric Cancer Patients Treated with Epirubicin, Oxaliplatin and 5-Fluorouracil Combination Chemotherapy","article_path":"articles/PMC4278770.md","variant_annotation_id":1444694879,"variant_haplotypes":"rs1695","gene":"GSTP1","drugs":"epirubicin, fluorouracil, oxaliplatin","pmid":25545243,"phenotype_category":"Efficacy","significance":"not stated","notes":null,"sentence":"Allele G is not associated with response to epirubicin, fluorouracil and oxaliplatin in people with Neoplasm Metastasis and Stomach Neoplasms.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3858547","article_title":"High imatinib dose overcomes insufficient response associated with ABCG2 haplotype in chronic myelogenous leukemia patients","article_path":"articles/PMC3858547.md","variant_annotation_id":1184513485,"variant_haplotypes":"rs12505410","gene":"ABCG2","drugs":"imatinib","pmid":24123600,"phenotype_category":"Efficacy","significance":"yes","notes":"As part of a haplotype with rs2725252. Where response was defined as BCR-ABL/ABL standardized ratio (BCR-ABL^IS) of <=10% at 3 months, <=1% at 12 months and <=0.1% at 18 months. Patients were either taking 400mg/day or 600mg/day dose of imatinib. Those with the G-C haplotype (rs12505410-rs2725252) taking a 400mg/day dose had a significantly better response (under all definitions of response), as compared to those with any other haplotype (i.e. G-A, T-C, T-A). Results were NOT significant for those taking a 600mg/day dose (p=0.209, 0.316 and 0.209, respectively for the different response definitions). Please note that alleles for rs2725252 have been complemented to the plus chromosomal strand.","sentence":"Allele G is associated with increased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC1754569","article_title":"Genetic markers for the efficacy of tumour necrosis factor blocking therapy in rheumatoid arthritis","article_path":"articles/PMC1754569.md","variant_annotation_id":1444668201,"variant_haplotypes":"rs1800471","gene":"TGFB1","drugs":"etanercept","pmid":12759288,"phenotype_category":"Efficacy","significance":"yes","notes":"When combined with the IL1RN VNTR in intron 2, A2 allele (no rsID available). Those with the CG-A2 positive combined genotype were more likely to be non-responders to treatment, as compared to those with any other combination of genotypes. However, no significant difference in genotype frequencies was seen between responders and non-responders when considering the rs1800471 SNP or IL1RN VNTR alone. Responders defined using the American College of Rheumatology (ACR) response criteria and response criteria based on the modified disease activity score (DAS)28 index. Non-responders failed to fulfill both these criteria.","sentence":"Genotype CG is associated with decreased response to etanercept in people with Arthritis, Rheumatoid as compared to genotype GG.","alleles":"CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2492917","article_title":"Lack of tacrolimus circadian pharmacokinetics and CYP3A5 pharmacogenetics in the early and maintenance stages in Japanese renal transplant recipients","article_path":"articles/PMC2492917.md","variant_annotation_id":1183958243,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"tacrolimus","pmid":18429967,"phenotype_category":"Toxicity, Metabolism/PK","significance":"no","notes":"No significant differences in dose-adjusted area under the concentration-time curve from 0-12 hours (AUC0-12/D), dose-adjusted trough level (C0/D), dose-adjusted maximum plasma concentration (Cmax/D), body weight-adjusted clearance or AUC0-12 were seen between any of the GG, AG or AA genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele G is not associated with metabolism of tacrolimus in people with Kidney Transplantation as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896111,"variant_haplotypes":"rs2218603","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928280,"variant_haplotypes":"rs6265","gene":"BDNF","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to risperidone in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3899768","article_title":"SLC28A3 genotype and gemcitabine rate of infusion affect dFdCTP metabolite disposition in patients with solid tumours","article_path":"articles/PMC3899768.md","variant_annotation_id":1184174895,"variant_haplotypes":"rs4877831","gene":"SLC28A3","drugs":"gemcitabine","pmid":24300978,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Gemcitabine, dFdCTP, and dFdU plasma concentrations were measured before (5, 15, 30, 45 min) and after gemcitabine infusion (1, 1.25, 1.5, 2, 6, 24, 48, 72 hrs). Population pharmacokinetic analysis of gemcitabine and metabolites (dFdU, dFdCTP) were performed by non-linear mixed effects modeling. rs4877831 is not associated with metabolism of gemcitabine.","sentence":"Genotype GG is not associated with metabolism of gemcitabine as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767264,"variant_haplotypes":"rs10070381","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele C is not associated with trough concentration of vancomycin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC10502099","article_title":"Carriers of HLA-DRB1*04:05 have a better clinical response to abatacept in rheumatoid arthritis","article_path":"articles/PMC10502099.md","variant_annotation_id":1452238320,"variant_haplotypes":"HLA-DRB1*04:05","gene":"HLA-DRB1","drugs":"abatacept","pmid":37709837,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by percent change in SDAI after 3 months. \"Of all the HLA-DRB1 alleles, the only one that showed a significant difference in percent change in SDAI after 3 months was HLA-DRB1*04:05, one of the SE alleles in ABT use (28.5% SDAI improvement in HLA-DRB1*04:05 allele non-carriers and 59.8% SDAI improvement in HLA-DRB1*04:05 allele carriers, p\u2009=\u20090.003, false discovery rate\u2009=\u20090.039). \" Not significant for tocilizumab, or TNF inhibitors.","sentence":"HLA-DRB1 *04:05 is associated with increased clinical benefit to abatacept in people with Arthritis, Rheumatoid.","alleles":"*04:05","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC9820603","article_title":"Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks","article_path":"articles/PMC9820603.md","variant_annotation_id":1452570019,"variant_haplotypes":"rs1143634","gene":"IL1B","drugs":"almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan, zolmitriptan","pmid":36614097,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with clinical benefit to almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan or zolmitriptan in people with Migraine without Aura as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5299197","article_title":"Influence of IL-18 and IL-10 Polymorphisms on Tacrolimus Elimination in Chinese Lung Transplant Patients","article_path":"articles/PMC5299197.md","variant_annotation_id":1448603535,"variant_haplotypes":"rs5744247","gene":"IL18","drugs":"tacrolimus","pmid":28246425,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the CC or CG genotypes had higher dose-adjusted trough concentrations of tacrolimus at weeks 1 (p=0.002), 2 (p=0.004), 3 (p=0.005) and 4 (p=0.026) post-transplant as compared to those with the GG genotype. This variant was also analyzed in combination with rs1946518 - patients with <=1 allele (Group 1), patients with 2 alleles (Group 2) and patients with >= 3 alleles (Group 3) were compared. Group 3 had lower dose-adjusted trough concentrations as compared to Groups 1 + 2 (p<0.05); no significant difference was seen between Groups 1 and 2. Additionally, note that this polymorphism had a significant impact among CYP3A5 expressers (rs776746 CT+TT) but NOT among nonexpressers (CC). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CG is associated with increased dose-adjusted trough concentrations of tacrolimus in people with lung transplantation as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557891,"variant_haplotypes":"rs35592","gene":"ABCC1","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501753,"variant_haplotypes":"rs1051740","gene":"EPHX1","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as measured by a lower carbamazepine-10,11-transdihydrodiol:carbamazepine-10-11 epoxide metabolite ratio. This association was only significant in the African American patients and not in Caucasian patients.","sentence":"Genotype TT is associated with decreased metabolism of carbamazepine in people with Epilepsy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3860742","article_title":"RRM1 and RRM2 pharmacogenetics: association with phenotypes in HapMap cell lines and acute myeloid leukemia patients","article_path":"articles/PMC3860742.md","variant_annotation_id":1183700190,"variant_haplotypes":"rs1561876","gene":"RRM1","drugs":"cladribine, cytarabine","pmid":24024897,"phenotype_category":"Efficacy","significance":"yes","notes":"The GG genotype (reported as CC in the paper) was associated with lower intracellular cytarabine levels at day 1 of therapy, inferior response after the first course of remission induction therapy, poor event-free survival and a greater risk of relapse. No multiple testing adjustments were performed: 7 SNPs were investigated.","sentence":"Genotype GG is associated with decreased response to cladribine and cytarabine in children with Leukemia, Myeloid, Acute as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC9657232","article_title":"Th2 Cytokines (Interleukin-5 and -9) Polymorphism Affects the Response to Anti-TNF Treatment in Polish Patients with Ankylosing Spondylitis","article_path":"articles/PMC9657232.md","variant_annotation_id":1451939809,"variant_haplotypes":"rs2069885","gene":"IL9","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":36361964,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by reduction in Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) after 12 weeks treatment. Also as measured by reductions in CRP and VAS scores.","sentence":"Genotypes AA + AG is associated with increased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Spondylitis, Ankylosing as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Spondylitis, Ankylosing","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11887086","article_title":"Valproic acid levels in neurodevelopmental disorders: correlation with CYP and SULT genes using LC-MS/MS","article_path":"articles/PMC11887086.md","variant_annotation_id":1453069940,"variant_haplotypes":"CYP2C19*2","gene":"CYP2C19","drugs":"valproic acid","pmid":40055599,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"No significant correlation was observed between VPA plasma concentrations and genotypes of SULT1A1 (p\u2009=\u20090.522), CYP2C192 (p\u2009=\u20090.288), CYP2D64 (p\u2009=\u20090.895), or CYP2D6*10 (p\u2009=\u20090.067).\" \"Sample numbers (2 and 8) have heterozygous abnormal CYP 2C19*2; sample number (2) has a therapeutic VPA level, but sample number (8) has a toxic level of VPA. \"","sentence":"CYP2C19 *2 is not associated with increased concentrations of valproic acid in people with Autism or Intellectual Disability.","alleles":"*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Autism, Other:Intellectual Disability","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10418744","article_title":"Personalized CFTR Modulator Therapy for G85E and N1303K Homozygous Patients with Cystic Fibrosis","article_path":"articles/PMC10418744.md","variant_annotation_id":1452416580,"variant_haplotypes":"rs80034486","gene":"CFTR","drugs":"elexacaftor / tezacaftor / ivacaftor","pmid":37569738,"phenotype_category":"Efficacy","significance":"not stated","notes":"\"Elexacaftor/tezacaftor/ivacaftor (ETI) therapy improves clinical outcomes in the N1303K/N1303K patient.\"","sentence":"Genotype GG is associated with increased clinical benefit to elexacaftor / tezacaftor / ivacaftor in people with Cystic Fibrosis.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032487,"variant_haplotypes":"rs2378676","gene":"NTRK2","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was statistically significant after permutation analysis based on 40,000 replicates, but not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction). Note; this SNP was in LD with rs4358872, rs1948308, and rs4877900 (r^2>0.7). Alleles were reported as T/G, here they are complemented with A representing T and C representing G.","sentence":"Genotype AA is associated with decreased dose of methadone in people with Heroin Dependence as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5604731","article_title":"Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients","article_path":"articles/PMC5604731.md","variant_annotation_id":827863330,"variant_haplotypes":"rs2236225","gene":"MTHFD1","drugs":"methotrexate","pmid":22450926,"phenotype_category":"Efficacy","significance":"no","notes":"This was considered a proxy SNP to compare with rs17850560 (MTHFD1:1958G>A) that has previously been shown to be involved in methotrexate efficacy.","sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672684,"variant_haplotypes":"rs571335587","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3320544","article_title":"Effects of genetic variation in H3K79 methylation regulatory genes on clinical blood pressure and blood pressure response to hydrochlorothiazide","article_path":"articles/PMC3320544.md","variant_annotation_id":981239001,"variant_haplotypes":"rs2269879","gene":"DOT1L","drugs":"hydrochlorothiazide","pmid":22440088,"phenotype_category":"Efficacy","significance":"no","notes":"More than 90% of participants were receiving 25 mg/day HCTZ (the rest received 12.5 mg/day). The direction of association in GERA Whites was the same as in PEAR Whites, but in GERA, the association was not significant. [stat_test:linear regression].","sentence":"Genotypes CT + TT are not associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC2750008","article_title":"A single tumour necrosis factor haplotype influences the response to adalimumab in rheumatoid arthritis","article_path":"articles/PMC2750008.md","variant_annotation_id":1444693775,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"adalimumab","pmid":17673491,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in genotype frequencies was seen between those who were responders to treatment and those who were non-responders. Response defined as a 50% percent response to adalimumab therapy according to the American College of Rheumatology criteria (ACR50 responders) at week 12 after treatment initiation.","sentence":"Genotype GG is not associated with response to adalimumab in people with Arthritis, Rheumatoid as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4598210","article_title":"A proposal for an individualized pharmacogenetic-guided isoniazid dosage regimen for patients with tuberculosis","article_path":"articles/PMC4598210.md","variant_annotation_id":1448261868,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"isoniazid","pmid":26491254,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Serum concentrations of isoniazid were significantly lower in NAT2 rapid acetylators (2.55 mg/L) as compared to slow acetylators (6.78 mg/L). Slow acetylators were defined as those with any two slow alleles. Intermediate and rapid acetylators were defined as those with one or two wild-type NAT*4 alleles, respectively. The authors also provided suggested doses for individuals based on NAT2 acetylator status and weight. Those with genotype-based dosing were more frequently in the therapeutic range as compared to those given standard dosing.","sentence":"NAT2 slow acetylator is associated with decreased concentrations of isoniazid in people with Tuberculosis as compared to NAT2 rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"rapid acetylator"} +{"pmcid":"PMC2681284","article_title":"Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate","article_path":"articles/PMC2681284.md","variant_annotation_id":769173669,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"methotrexate","pmid":19193698,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3454958","article_title":"FSH receptor gene polymorphisms have a role for different ovarian response to stimulation in patients entering IVF/ICSI-ET programs","article_path":"articles/PMC3454958.md","variant_annotation_id":1452488100,"variant_haplotypes":"rs6166","gene":"FSHR","drugs":"gonadotropin,chorionic","pmid":16758348,"phenotype_category":"Dosage","significance":"yes","notes":"In patients with ovarian dysfunction. SNP referred to as Ser680Asn in the paper and mapped to rs6166 by PharmGKB.","sentence":"Genotype CC is associated with increased dose of gonadotropin,chorionic in women as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC10275785","article_title":"Effect of NLRP3 inflammasome genes polymorphism on disease susceptibility and response to TNF-\u03b1 inhibitors in Iraqi patients with rheumatoid arthritis","article_path":"articles/PMC10275785.md","variant_annotation_id":1452143400,"variant_haplotypes":"rs4612666","gene":"NLRP3","drugs":"etanercept, infliximab","pmid":37332933,"phenotype_category":"Efficacy","significance":"yes","notes":"Responders = \u0394DAS-28 \u2265 1.2 and DAS-28 \u2264 3.2, Non-responders = \u0394DAS-28 \u2264 1.2 and DAS28 \u2264 5.1 (Table 1)","sentence":"Genotype TT is associated with decreased response to etanercept or infliximab in people with Arthritis, Rheumatoid as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5901893","article_title":"Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC5901893.md","variant_annotation_id":1450930512,"variant_haplotypes":"rs7184292","gene":null,"drugs":"atenolol","pmid":29650764,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype GG is associated with decreased dose of atenolol in people with Hypertension as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC10970167","article_title":"PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis","article_path":"articles/PMC10970167.md","variant_annotation_id":1452433582,"variant_haplotypes":"rs76966440","gene":"ILF3","drugs":"apremilast","pmid":38540428,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Allele-based association tests detected 64 SNPs displaying nominal p values < 0.05 (Table 2) including 10 SNPs with p values \u2264 0.01. \" Table 2 shows frequency of minor allele is responders and non-responders. Responder status maybe defined by PASI score improvement greater than 75% after 24\u201336 weeks of treatment.","sentence":"Allele T is associated with increased clinical benefit to apremilast in people with Psoriasis as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4533232","article_title":"Investigation of CYP 3A5 and ABCB1 gene polymorphisms in the long-term following renal transplantation: Effects on tacrolimus exposure and kidney function","article_path":"articles/PMC4533232.md","variant_annotation_id":1447674267,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":26622455,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Patients with the *1/*3 genotype had decreased dose-adjusted trough concentrations of tacrolimus at 6, 12 and 24 months post-transplant. Results were also significant in multivariate analysis (p<0.01). They also had increased dose requirements at 6 and 12 months post-transplant; no significant results were seen at 24 months post-transplant. Additionally, no significant results were seen at any of these three months for trough concentrations.","sentence":"CYP3A5 *1/*3 is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC4573240","article_title":"Genome-wide association study of warfarin maintenance dose in a Brazilian sample","article_path":"articles/PMC4573240.md","variant_annotation_id":1446534354,"variant_haplotypes":"rs9332238","gene":"CYP2C9","drugs":"warfarin","pmid":26265036,"phenotype_category":"Dosage","significance":"yes","notes":"The G allele was strongly associated with high warfarin dose (G allele, OR: 6.8 [5.0\u20139.1]; p = 4.4 \u00d7 10-13) in Brazilian patients. This variant is in virtually perfect LD with CYP2C9*2 (rs1799853) and CYP2C9*3 (rs1057910).","sentence":"Allele G is associated with increased dose of warfarin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6462825","article_title":"Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort","article_path":"articles/PMC6462825.md","variant_annotation_id":1449164090,"variant_haplotypes":"rs2645400","gene":"GATA4","drugs":"warfarin","pmid":29298995,"phenotype_category":"Dosage","significance":"no","notes":"Warfarin dose requirement was defined as the reported daily dose at 3 months following treatment initiation.","sentence":"Allele G is not associated with dose of warfarin as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC11481807","article_title":"Serotonin transporter 5-HTTLPR polymorphism and escitalopram treatment response in patients with major depressive disorder","article_path":"articles/PMC11481807.md","variant_annotation_id":1452647540,"variant_haplotypes":"CYP2C19 poor metabolizer","gene":"CYP2C19","drugs":"escitalopram","pmid":39407134,"phenotype_category":"Efficacy","significance":"no","notes":"\"No significant differences were observed in the distribution of predicted CYP2C19 and CYP2D6 metabolizer phenotypes between responder and non-responder groups.\"","sentence":"CYP2C19 poor metabolizer is not associated with decreased response to escitalopram in people with Major Depressive Disorder as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3376437","article_title":"Influence of SLCO1B3 haplotype-tag SNPs on docetaxel disposition in Chinese nasopharyngeal cancer patients","article_path":"articles/PMC3376437.md","variant_annotation_id":827784603,"variant_haplotypes":"rs4149118","gene":"SLCO1B3","drugs":"docetaxel","pmid":21995462,"phenotype_category":"Other, Metabolism/PK","significance":"yes","notes":"Significance as part of a haplotype with rs7311358, rs11045585 and rs3834935.","sentence":"Allele G is associated with decreased clearance of docetaxel in people with Nasopharyngeal Neoplasms.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Nasopharyngeal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6089815","article_title":"Interaction between ABCG2 421C>A polymorphism and valproate in their effects on steady\u2010state disposition of lamotrigine in adults with epilepsy","article_path":"articles/PMC6089815.md","variant_annotation_id":1449560343,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"lamotrigine","pmid":29791014,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In patients with the AA and AG genotype, steady-state measured and dose-adjusted lamotrigine trough concentration was higher in those administered lamotrigine as compared to the GG genotype and lower in those administered lamotrigine only as compared to the GG genotype.","sentence":"Allele T is associated with increased concentrations of lamotrigine in people with Epilepsy as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC9841299","article_title":"Impact of NFIB and CYP1A variants on clozapine serum concentration\u2014A retrospective naturalistic cohort study on 526 patients with known smoking habits","article_path":"articles/PMC9841299.md","variant_annotation_id":1451894000,"variant_haplotypes":"rs2472297","gene":"CYP1A1","drugs":"clozapine","pmid":36152308,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"significance is only given for combination of both CYP1A rs2472297 C>T and NFIB rs28379954 T>C genotypes","sentence":"Genotype CT is associated with decreased dose-adjusted trough concentrations of clozapine as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC2830602","article_title":"The impact of SLCO1B1 polymorphisms on the plasma concentration of lopinavir and ritonavir in HIV-infected men","article_path":"articles/PMC2830602.md","variant_annotation_id":1451114623,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"lopinavir","pmid":20078617,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Trough concentrations of lopinavir were significantly increased in patients with the CT genotype compared to TT and in the CC genotype compared to CT. Patients were treated with lopinavir/ritonavir, but no corresponding increase in trough concentrations was observed with ritonavir. Variant referred to in the paper as 521T>C.","sentence":"Genotypes CC + CT are associated with increased trough concentration of lopinavir in men with HIV Infections as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451973860,"variant_haplotypes":"rs11015149","gene":"APBB1IP","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":"was significant in dominant and co-dominant models in discovery. This was not replicated.","sentence":"Genotypes AA + AC is associated with increased resistance to clopidogrel in people with Coronary Disease as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3383686","article_title":"Meta-Analysis on Pharmacogenetics of Platinum-Based Chemotherapy in Non Small Cell Lung Cancer (NSCLC) Patients","article_path":"articles/PMC3383686.md","variant_annotation_id":982046461,"variant_haplotypes":"rs1047768","gene":"ERCC5","drugs":"Platinum compounds","pmid":22761669,"phenotype_category":"Efficacy","significance":"no","notes":"No significant relationship between genotype and drug response was detected.","sentence":"Allele C is not associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC1975838","article_title":"Genetic-based dosing in orthopedic patients beginning warfarin therapy","article_path":"articles/PMC1975838.md","variant_annotation_id":1450979180,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":17387222,"phenotype_category":"Dosage","significance":"yes","notes":"\"Haplotype A\" (defined by rs9923231A and elsewhere defined to = H1 and H2) was associated with 10.7%(95% CI 2.0 - 18.6%) reduction in therapeutic dose (defined as the dose that gave an INR in the target therapeutic range after 7 consecutive days) per copy as compared to \"Haplotype B\" (defined as H7,H8,H9 elsewhere). There were 4 patients missing data for rs9923231, and for these cases haplotype was based on rs8050894 on the basis of high pairwise linkage disequilibrium.","sentence":"Allele A is associated with decreased dose of warfarin in people with total knee or hip arthroplasty as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:total knee or hip arthroplasty","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934488,"variant_haplotypes":"rs28935490","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the A allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Asp313Tyr in the paper and was only found in combination with the Gly271Ser variant.","sentence":"Allele T is associated with increased response to migalastat in people with Fabry Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5558541","article_title":"Rooted in risk: genetic predisposition for low-density lipoprotein cholesterol level associates with diminished low-density lipoprotein cholesterol response to statin treatment","article_path":"articles/PMC5558541.md","variant_annotation_id":1448263689,"variant_haplotypes":"rs4420638","gene":"APOC1","drugs":"hmg coa reductase inhibitors","pmid":27648687,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by lesser reductions in LDL-C. These individuals were also more likely to start out with higher LDL-C before treatment.","sentence":"Allele G is associated with decreased response to hmg coa reductase inhibitors in people with Cardiovascular Diseases or Hypercholesterolemia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease, Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC7235792","article_title":"Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates","article_path":"articles/PMC7235792.md","variant_annotation_id":1451147629,"variant_haplotypes":"CYP3A5*1, CYP3A5*3, CYP3A5*6, CYP3A5*7","gene":"CYP3A5","drugs":"amlodipine","pmid":32331352,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Clearance was decreased in the presence of CYP3A5 variants. Statistical analysis was not carried out due to the low number of subjects carrying CYP3A4 variants. *3 allele was identified using rs776746, *6 was identified using rs10264272 and *7 was identified using rs41303343.","sentence":"CYP3A5 *3 + *6 + *7 are associated with decreased clearance of amlodipine in healthy individuals as compared to CYP3A5 *1.","alleles":"*3 + *6 + *7","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4949007","article_title":"CYP2D6 function moderates the pharmacokinetics and pharmacodynamics of 3,4-methylene-dioxymethamphetamine in a controlled study in healthy individuals","article_path":"articles/PMC4949007.md","variant_annotation_id":1448109167,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6, CYP2D6*9, CYP2D6*10, CYP2D6*41","gene":"CYP2D6","drugs":"3,4-methylenedioxymethamphetamine","pmid":27253829,"phenotype_category":"Efficacy","significance":"yes","notes":"Elevations in systolic blood pressure were greater in PMs compared with IMs (P = 0.02, *4/*10(6) *4/*41(4) *5/*10(2) *5/*41(1) *10/*41(4) *10/*10(1) *4/*9 (1)) and EMs (P = 0.01, *1/*3(2) *1/*6(2) *2/*4(15) *2/*5(1) *9/*10(2); *1/*41(4) *1/*10(2) *1/*9(3) *2/*10(3) *2/*41(5); *1/*1(22) *1/*2(23) *2/*2(16) *1/*4 (11)) at 0.6 h (F2,135 = 3.50, P = 0.03) and also tended to be greater at 1 h (F2,135 = 2.49, P = 0.09).","sentence":"CYP2D6 *4/*4 + *3/*5 is associated with increased response to 3,4-methylenedioxymethamphetamine as compared to CYP2D6 *1/*4 + *1/*3 + *1/*6 + *2/*4 + *2/*5 + *9/*10 + *1/*41 + *1/*10 + *1/*9 + *2/*10 + *2/*41 + *1/*1 + *1/*2 + *2/*2.","alleles":"*4/*4 + *3/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*4 + *1/*3 + *1/*6 + *2/*4 + *2/*5 + *9/*10 + *1/*41 + *1/*10 + *1/*9 + *2/*10 + *2/*41 + *1/*1 + *1/*2 + *2/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC6219441","article_title":"Comprehensive Ara-C SNP score predicts leukemic cell intracellular ara-CTP levels in pediatric acute myeloid leukemia patients","article_path":"articles/PMC6219441.md","variant_annotation_id":1449752077,"variant_haplotypes":"rs17343066","gene":"SLC28A3","drugs":"ara-CTP","pmid":30088438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype AA is associated with increased concentrations of ara-CTP in children with Leukemia, Myeloid, Acute as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677364,"variant_haplotypes":"rs700518","gene":"CYP19A1","drugs":"triglycerides","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole alone or with lipid lowering agents (LLA), such as statins. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with decreases in triglycerides of 32.3 mg/dL (SE 8.4).","sentence":"Allele C is associated with decreased concentrations of triglycerides in women with Breast Neoplasms and Menopause as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183634111,"variant_haplotypes":"rs221903","gene":null,"drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"There was a trend but significance was not attained. Observations: 1.77 mm Hg decreased reduction of diastolic blood pressure per T allele in PEAR + GERA, 0.08 mm Hg decreased reduction of diastolic blood pressure per T allele in NORDIL, and 1.15 mm Hg decreased reduction of diastolic blood pressure per T allele in PEAR + GERA + NORDIL.","sentence":"Allele T is associated with decreased response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5908314","article_title":"Pharmacogenetics-based area-under-curve model can predict efficacy and adverse events from axitinib in individual patients with advanced renal cell carcinoma","article_path":"articles/PMC5908314.md","variant_annotation_id":1449310608,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"axitinib","pmid":29682213,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors develop a prediction model and calculated area under the concentration curve (AUC) using 6 SNPs (rs17868323, rs3832043, rs2231142, rs2032582, rs1045642, rs35305980) was compared with actual AUC in 16 patients prospectively which significantly correlated with the objective response rate (P = 0.0002), hand-foot syndrome, P = 0.0055 and hypothyroidism, P = 0.0381, and correlated with actual AUC (P < 0.0001) - the validation study, calculated AUC prior to axitinib treatment precisely predicted actual AUC after axitinib treatment (P = 0.0066).","sentence":"Allele A is associated with concentrations of axitinib in people with Carcinoma, Renal Cell as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10834390","article_title":"Genome-Wide Association Study Identifies Pharmacogenomic Variants Associated With Metformin Glycemic Response in African American Patients With Type 2 Diabetes","article_path":"articles/PMC10834390.md","variant_annotation_id":1452234140,"variant_haplotypes":"rs143276236","gene":"ARFGEF3","drugs":"metformin","pmid":37639712,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by change in A1C. \"Among individuals with; >425 mg/day average daily exposure to; metformin, individuals with the ARFGEF3; rs143276236 CC genotype had an average absolute HbA1c reduction of 0.59% whereas individuals with the AC genotype; had an average absolute HbA1c reduction; of 0.28%; these differences were statistically significant\"","sentence":"Genotype AC is associated with decreased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to genotype CC.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC11317398","article_title":"Genetic variability in the glucocorticoid pathway and treatment outcomes in hospitalized patients with COVID-19: a pilot study","article_path":"articles/PMC11317398.md","variant_annotation_id":1452563080,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"dexamethasone","pmid":39135792,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. \"The median duration of hospitalization in the carriers of CYP3A4 rs35599367TC genotype was 16 days longer when compared to the carriers of the CC genotype (p adj = 0.022) (Table 4).\"","sentence":"Genotype AG is associated with increased time to response to dexamethasone in people with COVID-19 as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"time to response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:COVID-19","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451105001,"variant_haplotypes":"rs222741","gene":"TRPV1","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767269,"variant_haplotypes":"rs35397194","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele G is not associated with trough concentration of vancomycin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5600689","article_title":"Impact of Single Nucleotide Polymorphisms on Plasma Concentrations of Efavirenz and Lopinavir/ritonavir in Chinese Children Infected with the Human Immunodeficiency Virus","article_path":"articles/PMC5600689.md","variant_annotation_id":1448821830,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"ritonavir","pmid":28718515,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes CC + CT are not associated with concentrations of ritonavir in children with HIV Infections as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699022,"variant_haplotypes":"rs755722","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5721751","article_title":"Genetic Variants Associated With Uncontrolled Blood Pressure on\u00a0Thiazide Diuretic/\u03b2\u2010Blocker Combination Therapy in the PEAR (Pharmacogenomic Evaluation of Antihypertensive Responses)\u00a0and INVEST (International Verapamil\u2010SR Trandolapril Study) Trials","article_path":"articles/PMC5721751.md","variant_annotation_id":1449576280,"variant_haplotypes":"rs261316","gene":"ALDH1A2","drugs":"atenolol, hydrochlorothiazide","pmid":29097388,"phenotype_category":"Efficacy","significance":"yes","notes":"T allele associated with increased odds of uncontrolled blood pressure following thiazide diuretic/beta-blocker combination therapy. Variant only reached suggestive significance in discovery GWAS. Consistent direction of association found across discovery and replication cohorts and approached genome-wide significance in meta-analysis of all cohorts.","sentence":"Allele T is associated with decreased response to atenolol and hydrochlorothiazide in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4011617","article_title":"PPAR-\u03b32 and PTPRD gene polymorphisms influence type 2 diabetes patients' response to pioglitazone in China","article_path":"articles/PMC4011617.md","variant_annotation_id":1450814910,"variant_haplotypes":"rs17584499","gene":"PTPRD","drugs":"pioglitazone","pmid":23147557,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CC genotype showed significantly greater decreases in postprandial plasma glucose levels after 3 months of pioglitazone treatment. However, changes in other biochemical measures were not significant.","sentence":"Genotype CC is associated with increased response to pioglitazone in people with Diabetes Mellitus, Type 2 as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4236071","article_title":"Adiponectin Gene Polymorphism rs2241766 T/G Is Associated with Response to Pioglitazone Treatment in Type 2 Diabetic Patients from Southern China","article_path":"articles/PMC4236071.md","variant_annotation_id":1444666944,"variant_haplotypes":"rs16861194","gene":"ADIPOQ","drugs":"pioglitazone","pmid":25405601,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as \"any decrease greater than (or equal to) 15%\" of glycated hemoglobin (HbA1C%).","sentence":"Genotype AG are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4366347","article_title":"Genetic Variation of the Mu Opioid Receptor (OPRM1) and Dopamine D2 Receptor (DRD2) is Related to Smoking Differences in Patients with Schizophrenia but not Bipolar Disorder","article_path":"articles/PMC4366347.md","variant_annotation_id":1450826746,"variant_haplotypes":"rs1800497","gene":"DRD2","drugs":"nicotine","pmid":28548579,"phenotype_category":"Other","significance":"no","notes":"Subgroup analysis of bipolar disorder patients only found no significant difference in number of cigarettes smoked per day between genotype groups.","sentence":"Genotypes AA + AG are not associated with exposure to nicotine in people with Bipolar Disorder as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5324942","article_title":"The effect of CYP2C9 and VKORC1 genetic polymorphisms on warfarin dose requirements in a pediatric population","article_path":"articles/PMC5324942.md","variant_annotation_id":1448104659,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":27182616,"phenotype_category":"Dosage","significance":"no","notes":"The average daily warfarin dose required for maintenance therapy in patients with the CYP2C9*2 was 3.67\u00b11.38, whereas it was 4.35\u00b11.25 in those without this mutation.","sentence":"CYP2C9 *2 is associated with decreased dose of warfarin in children as compared to CYP2C9 *1/*1.","alleles":"*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2757009","article_title":"\u03b21-adrenoceptor genetic varians and ethnicity independently affect response to \u03b2-blockade","article_path":"articles/PMC2757009.md","variant_annotation_id":1450944900,"variant_haplotypes":"rs1801253","gene":"ADRB1","drugs":"atenolol","pmid":18794726,"phenotype_category":"Efficacy","significance":"yes","notes":"b1-AR Arg389 was independently associated with a greater reduction in heart rate area under the curve after exercise-induced tachycardia.","sentence":"Allele C is associated with increased response to atenolol in healthy individuals as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3579501","article_title":"Novel Polymorphisms Associated with Tacrolimus Trough Concentrations: Results from a Multicenter Kidney Transplant Consortium","article_path":"articles/PMC3579501.md","variant_annotation_id":827698530,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":21206424,"phenotype_category":"Efficacy, Metabolism/PK","significance":"yes","notes":"T defines *1.","sentence":"Genotypes CT + TT are associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4788379","article_title":"PTPRD gene associated with blood pressure response to atenolol and resistant hypertension","article_path":"articles/PMC4788379.md","variant_annotation_id":1446902837,"variant_haplotypes":"rs12346562","gene":null,"drugs":"atenolol","pmid":26425837,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele of SNP rs12346562 was associated with better DBP response to atenolol, but with less pronounced response to hydrochlorothiazide. White participants with rs12346562 AA, AC, and CC genotypes had mean DBP responses of -15.0,-11.2, and -9.4 mmHg to atenolol (P=3.2x10-6, b=-2.4 mmHg; per A allele).","sentence":"Genotypes AA + AC is associated with increased response to atenolol in people with Hypertension as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC10483403","article_title":"Genetic polymorphisms are associated with individual susceptibility to dexmedetomidine","article_path":"articles/PMC10483403.md","variant_annotation_id":1452240860,"variant_haplotypes":"rs16947","gene":"CYP2D6","drugs":"dexmedetomidine","pmid":37693312,"phenotype_category":"Dosage","significance":"yes","notes":"\"In our study, homozygous carriers of the major allele (GG) took larger effective doses than those either heterozygous (GA) or homozygous for the minor allele (AA) (39.22 \u00b1 11.76 vs. 34.84 \u00b1 8.09, p = 0.02). The results revealed that carriers of the minor allele A) required less DXM to induce sedation.\"","sentence":"Genotype GG is associated with increased dose of dexmedetomidine in people with surgery as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:surgery","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC10349379","article_title":"Genetic Factors Associated with Morphine Consumption in Women Undergoing Laparoscopic Cholecystectomy: A Prospective Cohort Study","article_path":"articles/PMC10349379.md","variant_annotation_id":1452192666,"variant_haplotypes":"rs2952768","gene":"METTL21A","drugs":"morphine","pmid":37456358,"phenotype_category":"Dosage","significance":"yes","notes":"All patients were Arab women undergoing laparoscopic cholecystectomy. \"Both OPRM1 (rs1799971, A>G), and rs2952768 (T>C) showed statistically significant association with IO total morphine dose requirements.\"\"patients homozygous for the rs2952768 (T>C) minor allele (CC) had a higher mean rank compared to the other genotypes\"","sentence":"Genotype CC is associated with increased dose of morphine in women with Pain, Postoperative as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6475679","article_title":"Evaluating metronidazole as a novel, safe CYP2A6 phenotyping probe in healthy adults","article_path":"articles/PMC6475679.md","variant_annotation_id":1451162952,"variant_haplotypes":"CYP2A6*1, CYP2A6*2, CYP2A6*9, CYP2A6*17","gene":"CYP2A6","drugs":"metronidazole","pmid":30706508,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Metabolite ratios for metronidazole were significantly reduced in reduced metabolizers compared to normal metabolizers. Subjects were genotyped for the *2, *4, *7, *9, *12, *17, *20, *23-*28, *31 and *35 alleles, although no details of rsIDs are given. No participants were found to have the *7 allele, so no testing for the *8 or *10 alleles was carried out.","sentence":"CYP2A6 *1/*2 + *1/*9 + *1/*17 (assigned as reduced metabolizers phenotype) are associated with decreased metabolism of metronidazole in healthy individuals as compared to CYP2A6 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*9 + *1/*17","specialty_population":null,"metabolizer_types":"reduced metabolizers","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451673060,"variant_haplotypes":"rs150247689","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as neutral function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele T is not associated with metabolism of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359149,"variant_haplotypes":"rs129882","gene":"DBH","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele T is not associated with response to heroin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5427048","article_title":"The Pharmacogenetics of Tacrolimus in Corticosteroid-Sparse Pediatric and Adult Kidney Transplant Recipients","article_path":"articles/PMC5427048.md","variant_annotation_id":1448603849,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":28229376,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"For 1 year post-transplantation, CYP3A5*1 carriers had a 62% lower median tacrolimus Co/D compared with homozygote carriers of the CYP3A5*3 allele (1.34 vs 3.53 ng/ml/mg).","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with decreased trough concentration of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC10675623","article_title":"Association of ABCB1 Polymorphisms with Efficacy and Adverse Drug Reactions of Valproic Acid in Children with Epilepsy","article_path":"articles/PMC10675623.md","variant_annotation_id":1452308643,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"valproic acid","pmid":38004402,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. \"Moreover, recessive model analysis showed that the TT genotype had a higher frequency in the persistent seizure group compared with genotypes carrying at least one C allele (OR = 0.45, 95% CI = 0.24\u20130.85, p = 0.013),\"","sentence":"Genotype AA is associated with decreased clinical benefit to valproic acid in children with Epilepsy as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3245828","article_title":"A Common \u03b21-Adrenergic Receptor Polymorphism Predicts Favorable Response to Rate Control Therapy in Atrial Fibrillation","article_path":"articles/PMC3245828.md","variant_annotation_id":827816261,"variant_haplotypes":"rs1801253","gene":"ADRB1","drugs":"atenolol, carvedilol, diltiazem, metoprolol, verapamil","pmid":22192668,"phenotype_category":"Efficacy","significance":"yes","notes":"Reported as Gly389 carriers being more likely to respond favorably to ventricular rate control therapy and requiring the lowest doses of rate control medication compared to Arg389Arg (60 % vs 51 %). GC SNP; be careful. Gly corresponds to G on the + strand. [stat_test: chi square].","sentence":"Genotypes CG + GG are associated with increased response to atenolol, carvedilol, diltiazem, metoprolol or verapamil in people with Atrial Fibrillation as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5266160","article_title":"Clinical and genetic factors associated with warfarin maintenance dose in northern Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC5266160.md","variant_annotation_id":1448567655,"variant_haplotypes":"rs28371759","gene":"CYP3A4","drugs":"warfarin","pmid":28079798,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype AA are associated with decreased dose of warfarin in people with heart valve replacement as compared to genotype AG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5963414","article_title":"Polymorphism of the dopamine transporter type 1 gene modifies the treatment response in Parkinson\u2019s disease","article_path":"articles/PMC5963414.md","variant_annotation_id":1444699815,"variant_haplotypes":"rs3836790","gene":"SLC6A3","drugs":"levodopa","pmid":25805645,"phenotype_category":"Efficacy","significance":"yes","notes":"SLC6A3 rs3836790 genotype was significantly associated with the number of freezing of gait episodes, the number of steps and the completion time (with P-values of 0.004, 0.02 and 0.016, respectively). A multivariate analysis adjusted for age, gender, weight, disease duration and l-DOPA equivalent daily dose (or l-DOPA daily dose) revealed significant associations for the number of steps (P = 0.0005) the completion time (P = 0.001) and the number of freezing of gait episodes (P = 0.004).","sentence":"Genotype ACATACACACTCAGACACACATACCATGCA/ACATACACACTCAGACACACATACCATGCA is associated with increased response to levodopa in people with Parkinson Disease as compared to genotypes ACATACACACTCAGACACACATACCATGCA/del + del/del.","alleles":"ACATACACACTCAGACACACATACCATGCA/ACATACACACTCAGACACACATACCATGCA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Parkinson Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"ACATACACACTCAGACACACATACCATGCA/del + del/del","comparison_metabolizer_types":null} +{"pmcid":"PMC4154311","article_title":"A randomized placebo-controlled trial of ataluren for the treatment of nonsense mutation cystic fibrosis","article_path":"articles/PMC4154311.md","variant_annotation_id":1447952414,"variant_haplotypes":"rs74597325","gene":"CFTR","drugs":"ataluren","pmid":24836205,"phenotype_category":"Efficacy","significance":"no","notes":"Outcomes assessed for all nonsense mutations together (W1282X, G542X, R1162X, and R553X). Case-control study with placebo. Endpoint measured was change in Forced Expiratory Volume in 1 second. A difference was seen in the subset of patients on tobramycin.","sentence":"Allele T is not associated with response to ataluren in people with Cystic Fibrosis as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501801,"variant_haplotypes":"rs4148739","gene":"ABCB1","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as measured by a lower carbamazepine-10,11-transdihydrodiol:carbamazepine-10-11 epoxide metabolite ratio. This association was only significant in the African American patients and not in Caucasian patients.","sentence":"Genotype TT is associated with decreased metabolism of carbamazepine in people with Epilepsy as compared to genotype CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003524,"variant_haplotypes":"rs10264272","gene":"CYP3A5","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Median concentrations of lumefantrine 7 days after beginning treatment with artemether-lumefantrine was significantly higher in carriers of the T allele as compared to non-carriers.","sentence":"Allele T is associated with increased concentrations of lumefantrine in women with Malaria and Pregnancy as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Other:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438280,"variant_haplotypes":"rs2829163","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 5E-9. This variant was in linkage disequilibrium with rs7282679.","sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10099095","article_title":"Estimating the In Vivo Function of CYP2D6 Alleles through Population Pharmacokinetic Modeling of Brexpiprazole","article_path":"articles/PMC10099095.md","variant_annotation_id":1452037301,"variant_haplotypes":"CYP2D6*1, CYP2D6*9, CYP2D6*10, CYP2D6*14, CYP2D6*17, CYP2D6*29, CYP2D6*41","gene":"CYP2D6","drugs":"brexpiprazole","pmid":36350097,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in patients and healthy individuals from clinical studies. \"Among the decreased function alleles, the following; enzyme activities relative to CYP2D6*1 were estimated: 23% for CYP2D6*9 (n = 20), 32% for CYP2D6*10 (n = 62),; 64% for CYP2D6*14 (n = 1), 4% for CYP2D6*17 (n = 37), 4% for CYP2D6*29 (n = 13), and 9% for CYP2D6*41 (n = 64). \"","sentence":"CYP2D6 *9 +*10 + *14 + *17 + *29 + *41 is associated with decreased metabolism of brexpiprazole as compared to CYP2D6 *1.","alleles":"*9 +*10 + *14 + *17 + *29 + *41","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375594,"variant_haplotypes":"rs10802887","gene":"GREM2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele G is associated with increased response to allopurinol as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC1963422","article_title":"Modelling the influence of MDR1 polymorphism on digoxin pharmacokinetic parameters","article_path":"articles/PMC1963422.md","variant_annotation_id":982037228,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"digoxin","pmid":17404720,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"AA homozygotes had a lower apparent volume of distribution compared to carriers of the G allele. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype AA is associated with decreased clearance of digoxin in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2883666","article_title":"Replicated Association between an IL28B Gene Variant and a Sustained Response to Pegylated Interferon and Ribavirin","article_path":"articles/PMC2883666.md","variant_annotation_id":981501267,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":20176026,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"Treatment was with peginterferon - the type not specified. The association was with SVR(sustained virological response) [undetectable levels of HCV RNA 24 weeks after end of treatment].","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b or ribavirin in people with Hepatitis C, Chronic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3625373","article_title":"The Missing Association: Sequencing-Based Discovery of Novel SNPs in VKORC1 and CYP2C9 That Affect Warfarin Dose in African Americans","article_path":"articles/PMC3625373.md","variant_annotation_id":769245708,"variant_haplotypes":"rs7089580","gene":"CYP2C9","drugs":"warfarin","pmid":21270790,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with increased dose of warfarin.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165223,"variant_haplotypes":"rs784892","gene":"AMHR2","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with exposure to metformin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11082567","article_title":"The Association Between Clozapine Plasma Concentration, CYP2D6 (*10, *2) Polymorphisms and Risk of Adverse Reactions","article_path":"articles/PMC11082567.md","variant_annotation_id":1452487142,"variant_haplotypes":"rs16947","gene":"CYP2D6","drugs":"clozapine","pmid":38765922,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"Compared with the corresponding groups, the clozapine plasma concentrations of individuals with the *10TT genotype and individuals with the *2CC genotype were the highest (P < .05). \"","sentence":"Genotype GG is associated with increased concentrations of clozapine in people with Schizophrenia as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC6089815","article_title":"Interaction between ABCG2 421C>A polymorphism and valproate in their effects on steady\u2010state disposition of lamotrigine in adults with epilepsy","article_path":"articles/PMC6089815.md","variant_annotation_id":1449560356,"variant_haplotypes":"rs2011425","gene":"UGT1A4","drugs":"lamotrigine","pmid":29791014,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with concentrations of lamotrigine in people with Epilepsy as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170917,"variant_haplotypes":"CYP3A4 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP3A4","drugs":"tamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A4 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of tamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479749,"variant_haplotypes":"rs6002616","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC9450009","article_title":"Hispanic ethnicity and the rs4880 variant in SOD2 are associated with elevated liver enzymes and bilirubin levels in children receiving asparaginase-containing chemotherapy for acute lymphoblastic leukemia","article_path":"articles/PMC9450009.md","variant_annotation_id":1451804900,"variant_haplotypes":"rs4880","gene":"SOD2","drugs":"bilirubin","pmid":35658244,"phenotype_category":"Toxicity","significance":"yes","notes":"when treated with asparaginase. ALT and AST were also significantly elevated but it was not significantly associated with hepatotoxicity. Alleles complemented to plus chromosomal strand.","sentence":"Genotype GG is associated with increased concentrations of bilirubin in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC6654446","article_title":"Gender\u2010specific association between preproendothelin\u20101 genotype and reduction of systolic blood pressure during antihypertensive treatment\u2010\u2010\u2010results from the Swedish irbesartan left ventricular hypertrophy investigation versus atenolol (SILVHIA)","article_path":"articles/PMC6654446.md","variant_annotation_id":982043089,"variant_haplotypes":"rs5370","gene":"EDN1","drugs":"atenolol, irbesartan","pmid":15188945,"phenotype_category":"Efficacy","significance":"yes","notes":"Men with the GT genotype had a greater reduction in systolic blood pressure (SBP) between baseline and 12 weeks of treatment, as compared to those with the GG genotype. p-value was adjusted for age, dose, and SBP, diastolic blood pressure and left ventricular mass index (LVMI) at baseline.","sentence":"Genotype GT is associated with increased response to atenolol and irbesartan in men with Essential hypertension as compared to genotype GG.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in men with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11603417","article_title":"Novel genomic variants influencing methotrexate delayed clearance in pediatric patients with acute lymphoblastic leukemia","article_path":"articles/PMC11603417.md","variant_annotation_id":1452722790,"variant_haplotypes":"rs16954698","gene":"PKD1L2","drugs":"methotrexate","pmid":39611166,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Of all three patients with PKD1L2 rs16954698, two had delayed MTX clearance with first infusion and one with the third infusion. Compared to the wild-types of this variant, heterozygotes showed statistically significantly worse status in all renal function indices such as Cr, eGFR, BUN, and grade \u22652 AKI after HD-MTX administration (Supplementary Table S5).\" \"Case (MTX, delayed clearance) was defined as serum MTX, level (\u03bcmol/L) at 24 h \u2265 15 or 48 h \u2265 1.5 or 72 h \u2265 0.15 or 168 h \u2265 0.1, otherwise defined as control.\"","sentence":"Allele A is associated with decreased clearance of methotrexate in children with Acute lymphoblastic leukemia as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449715975,"variant_haplotypes":"rs3845744","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5877743","article_title":"Prediction of Tacrolimus Exposure by CYP3A5 Genotype and Exposure of Co-Administered Everolimus in Japanese Renal Transplant Recipients","article_path":"articles/PMC5877743.md","variant_annotation_id":1449748025,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"everolimus","pmid":29547545,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in dose-adjusted area under the blood concentration-time curve (AUC/D) or dose-adjusted trough concentration (C0/D) was seen between the genotypes either at 1 month (p=0.915 and p=0.816, respectively) or 1 year (p=0.708 and p=0.540, respectively) post-transplant. Everolimus was given on day 14 of tacrolimus treatment. Note that at 1 year post-transplant only 31 patients remained for analysis.","sentence":"CYP3A5 *3/*3 is not associated with metabolism of everolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767397,"variant_haplotypes":"rs2378597","gene":"AIDA","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele T is not associated with trough concentration of vancomycin as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983283,"variant_haplotypes":"rs49411","gene":"FHIT","drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here. Response measured at >50% reduction in symptoms at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele C is associated with decreased response to antidepressants in people with Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6942309","article_title":"Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene","article_path":"articles/PMC6942309.md","variant_annotation_id":1452829980,"variant_haplotypes":"ABCG5 deficiency","gene":"ABCG5","drugs":"ezetimibe","pmid":31901240,"phenotype_category":"Efficacy","significance":"yes","notes":"\"ezetimibe-atorvastatin combination therapy might be more beneficial in hypercholesterolemic patients with a mutation in ABCG5 or ABCG8 gene.\" Variants identified were c.348C\u2009>\u2009A (p.Asn116Lys), c.635-1G\u2009>\u2009A, c.1166G\u2009>\u2009A (p.Arg389His), c.1673_1677delCTTTT (p.Pro558GlnfsTer14) (unable to map to ClinVar or dbSNP as this time)","sentence":"ABCG5 deficiency is associated with increased clinical benefit to ezetimibe in people with Familial hypercholesterolemia.","alleles":null,"specialty_population":null,"metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Familial hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11558073","article_title":"The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy","article_path":"articles/PMC11558073.md","variant_annotation_id":1452709360,"variant_haplotypes":"rs3892097","gene":"CYP2D6","drugs":"valproic acid","pmid":39539630,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Carriers of rs3892097 (CYP2D6) constituted 26.67% of the treatment failure group compared to 14.15% of the treatment success group (p = 0.047). The multivariate OR adjusted for maintenance VPA dose was 0.389 [0.169; 0.894] (p = 0.026), indicating that patients experiencing treatment failure were approximately 2.5 times more likely to carry this polymorphism. This underscores the detrimental effect of rs3892097 (CYP2D6) on the success rate of VPA monotherapy. No other SNPs showed significant associations with treatment outcome (Figure 1; Supplementary Table S2).\"","sentence":"Genotypes CT + TT is associated with decreased clinical benefit to valproic acid in people with Epilepsy as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":982046660,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Daily dose of phenprocoumon is not significantly associated with CYP2C9 genotype. Daily dose is negatively correlated with age. This study published an algorithm for daily dose that includes height, although height was not significant in univariate analysis. This haplotype is significantly associated with higher phenprocoumon concentration as compared to patients with the wildtype haplotype.","sentence":"CYP2C9 *2 + *3 are associated with decreased metabolism of phenprocoumon as compared to CYP2C9 *1.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359381,"variant_haplotypes":"rs6347","gene":"SLC6A3","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of heroin in people with Heroin Dependence as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163216,"variant_haplotypes":"rs2070673","gene":"CYP2E1, DUX1","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4500334","article_title":"Pharmacogenetics of plasma efavirenz exposure in HIV-infected adults and children in South Africa","article_path":"articles/PMC4500334.md","variant_annotation_id":1446905193,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":25611810,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"When considered as part of a composite (rs3745274 T, rs28399499 C, and rs4803419 T), the T allele was strongly associated with plasma efavirenz concentrations (plasma [EFV]) [beta=0.28, 95% CI (0.21, 0.35) p=2.4 E-11]. In a final multivariable model the T allele was associated with a 31% increased in plasma [EFV] (beta=0.27). Post-hoc sensitivity analysis, in which two extreme outliers were excluded from analysis (N=111), showed that the T allele was associated with a 33% increase in plasma [EFV]. Multi-level mixed effects models predicted plasma [EFV] as a function of 1) fixed age effect, time after dose, CYP2B6 composite genotype T,C,T and 2) random effects of the individual to account for w/in individual correlations, the genotypes TT and GT were associated with a 2.9 fold increase in and a 1.5 fold increase in plasma [EFV], respectively.","sentence":"Allele T is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele G.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3944116","article_title":"Effect of CYP3A4*22, CYP3A5*3, and CYP3A Combined Genotypes on Cyclosporine, Everolimus, and Tacrolimus Pharmacokinetics in Renal Transplantation","article_path":"articles/PMC3944116.md","variant_annotation_id":1184470941,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"everolimus, tacrolimus","pmid":24522145,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A4 *1/*1 is not associated with clearance of everolimus or tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1/*22 + *22/*22.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*22 + *22/*22","comparison_metabolizer_types":null} +{"pmcid":"PMC11315837","article_title":"A Semi-Mechanistic Population Pharmacokinetic Model of Noscapine in Healthy Subjects Considering Hepatic First-Pass Extraction and CYP2C9 Genotypes","article_path":"articles/PMC11315837.md","variant_annotation_id":1452491080,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*9","gene":"CYP2C9","drugs":"noscapine","pmid":38809387,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Signifcant diferences; were observed only between genotype-predicted phenotype; groups of CYP2C9 when comparing Cmax (p values, 0.00091; and 0.00013) and AUC0\u2013t; (p values, 0.0047 and 0.00096) for; EMs with IMs (AS of 1.5) and EMs with PMs & IMs (AS; of 1.0), respectively.\"","sentence":"CYP2C9 *1/*1 + *1/*9 (assigned as normal metabolizer phenotype) is associated with increased clearance of Noscapine in healthy individuals as compared to CYP2C9 *1/*2 + *1/*3 + *2/*3 + *3/*3 (assigned as intermediate metabolizer and poor metabolizer phenotype) .","alleles":"*1/*1 + *1/*9","specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*3 + *2/*3 + *3/*3","comparison_metabolizer_types":"intermediate metabolizer and poor metabolizer"} +{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934356,"variant_haplotypes":"rs397515874","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the G allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Leu243Phe.","sentence":"Allele G is associated with increased response to migalastat in people with Fabry Disease.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4236071","article_title":"Adiponectin Gene Polymorphism rs2241766 T/G Is Associated with Response to Pioglitazone Treatment in Type 2 Diabetic Patients from Southern China","article_path":"articles/PMC4236071.md","variant_annotation_id":1444666816,"variant_haplotypes":"rs2241766","gene":"ADIPOQ","drugs":"pioglitazone","pmid":25405601,"phenotype_category":"Efficacy","significance":"yes","notes":"Response was defined as \"any decrease greater than (or equal to) 15%\" of glycated hemoglobin (HbA1C%). When comparing the response rates between patients with the GT versus TT genotypes, the GT genotypes were associated with a greater frequency of response (52.94% versus 12.7% p=0.001) as well as a greater decrease in HbA1c% as compared to patients with the TT genotype (1.15 versus 0.52 p=0.001). Logistic regression analysis showed that rs2241766 GT genotype was associated with response to pioglitazone. *Please note: there were no individuals of genotype GG.","sentence":"Genotype GT is associated with increased response to pioglitazone in people with Diabetes Mellitus as compared to genotype TT.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928201,"variant_haplotypes":"rs1800497","gene":"DRD2","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC556232","article_title":"Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin","article_path":"articles/PMC556232.md","variant_annotation_id":613978592,"variant_haplotypes":"rs3812718","gene":"SCN1A","drugs":"carbamazepine","pmid":15805193,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype TT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4513254","article_title":"Race influences warfarin dose changes associated with genetic factors","article_path":"articles/PMC4513254.md","variant_annotation_id":1445296627,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":26024874,"phenotype_category":"Dosage","significance":"yes","notes":"only in European Americans, but not African Americans. (20.6% vs 3.0% dose reduction per variant allele, interaction p value<0.001)","sentence":"CYP2C9 *1/*2 + *2/*2 are associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*2 + *2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5241185","article_title":"Therapeutic benefit observed with the CFTR potentiator, ivacaftor, in a CF patient homozygous for the W1282X CFTR nonsense mutation","article_path":"articles/PMC5241185.md","variant_annotation_id":1448265990,"variant_haplotypes":"rs77010898","gene":"CFTR","drugs":"ivacaftor","pmid":27707539,"phenotype_category":"Efficacy","significance":"yes","notes":"This study was a cell study and a case report of a woman with AA genotype. FEV1 did not improve, but ivacaftor was associated with better weight gain and fewer months with exacerbations.","sentence":"Genotype AA is associated with increased response to ivacaftor in people with Cystic Fibrosis as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5249113","article_title":"Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis","article_path":"articles/PMC5249113.md","variant_annotation_id":1448995949,"variant_haplotypes":"rs33980500","gene":"TRAF3IP2","drugs":"etanercept","pmid":28107378,"phenotype_category":"Efficacy","significance":"no","notes":"At six months after beginning treatment, a significant association between rs33980500 and decreased response to TNF inhibitors (i.e. etanercapt and adalimumab) in terms of the number of patients in remission (p=0.02, OR=0.09, C.I.=0.01-0.70) or with low disease activity (p=0.013, OR=0.1, C.I.=0.02-0.87) was seen across the whole cohort, but was not seen at two years after beginning treatment and could not be replicated in the subgroups for each individual drug.","sentence":"Allele T is not associated with response to etanercept in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2995295","article_title":"Pharmacogenetic Predictors of Statin-Mediated Low-Density Lipoprotein Cholesterol Reduction and Dose Response","article_path":"articles/PMC2995295.md","variant_annotation_id":827807823,"variant_haplotypes":"rs12003906","gene":"ABCA1","drugs":"atorvastatin, pravastatin, simvastatin","pmid":20031551,"phenotype_category":"Efficacy","significance":"yes","notes":"As measured by reduction in LDLc. Association was seen at low and high doses. Association reported for minor allele but base not specified; estimated from dbSNP to be the C allele (on the plus chromosomal strand).","sentence":"Allele C is associated with decreased response to atorvastatin, pravastatin or simvastatin in people with Hyperlipidemias as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hyperlipidemias","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3523080","article_title":"PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients","article_path":"articles/PMC3523080.md","variant_annotation_id":1184512544,"variant_haplotypes":"rs6785049","gene":"NR1I2","drugs":"efavirenz","pmid":23173844,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Plasma levels of efavirenz were not statistically significantly different between the GG and AG genotypes of this SNP.","sentence":"Genotype AG is not associated with metabolism of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC9537548","article_title":"A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients","article_path":"articles/PMC9537548.md","variant_annotation_id":1451918940,"variant_haplotypes":"rs12777823","gene":null,"drugs":"warfarin","pmid":36210801,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"for S-warfarin stereoisomer in particular, measured as increased S-warfarin/R-warfarin ratio and decreased S-7OH-warfarin/S-warfarin and using a Bonferroni-adjusted replication significance threshold p < 3.21 \u00d7 10\u22124.","sentence":"Allele A is associated with decreased metabolism of warfarin in people with Atrial Fibrillation, venous thromboembolism or Heart Valve Diseases as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation, Other:Venous thromboembolism, Other:Heart Valve Diseases","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3727245","article_title":"CYP2C8*3 predicts benefit/risk profile in breast cancer patients receiving neoadjuvant paclitaxel","article_path":"articles/PMC3727245.md","variant_annotation_id":827922843,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"paclitaxel","pmid":22527101,"phenotype_category":"Efficacy","significance":"no","notes":"Response = complete clinical response (cCR). Some patients who had HER2 overexpressing tumors received trastuzumab at the same time as the paclitaxel. Also reported as CYP3A4*1B.","sentence":"Genotypes CC + CT are not associated with increased response to paclitaxel in women with Breast Neoplasms as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3755037","article_title":"Multidrug resistance-associated protein 2 (MRP2/ABCC2) haplotypes significantly affect the pharmacokinetics of tacrolimus in kidney transplant recipients","article_path":"articles/PMC3755037.md","variant_annotation_id":1184514507,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":23633119,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"CYP3A5*1 carriers showed 2-3 fold lower C0/dose and C2/dose of tacrolimus compared to CYP3A5*3 homozygotes. Population pharmacokinetics modelling using both univariate and multivariate analysis, CYP3A5*1 allele was the significant covariate for pharmacokinetics parameter CL/F.","sentence":"Genotypes CT + TT are associated with increased metabolism of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC1975838","article_title":"Genetic-based dosing in orthopedic patients beginning warfarin therapy","article_path":"articles/PMC1975838.md","variant_annotation_id":1183699325,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"warfarin","pmid":17387222,"phenotype_category":"Dosage","significance":"yes","notes":"T (*2) was associated with 17.4 %(95% CI 8.3-25.6%) reduction in therapeutic dose (defined as the dose that gave an INR in the target therapeutic range after 7 consecutive days) per copy.","sentence":"Allele T is associated with decreased dose of warfarin in people with total knee or hip arthroplasty as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:total knee or hip arthroplasty","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11246114","article_title":"Association of SLC22A1, SLC47A1, and KCNJ11 polymorphisms with efficacy and safety of metformin and sulfonylurea combination therapy in Egyptian patients with type 2 diabetes","article_path":"articles/PMC11246114.md","variant_annotation_id":1452538740,"variant_haplotypes":"rs5219","gene":"ABCC8, KCNJ11","drugs":"\"metformin\", \"sulfonamides, urea derivatives\"","pmid":39005567,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Relative to the rs5219 EE genotype carriers, the EK and KK genotype carriers responded better to combination therapy.\" However Table 4 shows E as higher frequency in responders than non-responders. Mapped E to C and K to T.","sentence":"Genotypes CT + TT is associated with increased clinical benefit to metformin and sulfonamides, urea derivatives in people with Diabetes Mellitus, Type 2 as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4243902","article_title":"Improved prediction of tacrolimus concentrations early after kidney transplantation using theory-based pharmacokinetic modelling","article_path":"articles/PMC4243902.md","variant_annotation_id":1444694209,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":25279405,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients who were CYP3A5 expressors (CT + TT) had 30% (95% CI = 13, 46%) higher tacrolimus clearance, and 18% (95% CI = 2, 29%) lower tacrolimus bioavailability, as compared to nonexpressors (CC).","sentence":"Genotypes CT + TT is associated with increased clearance of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3358293","article_title":"Therapeutic Dosing of Acenocoumarol: Proposal of a Population Specific Pharmacogenetic Dosing Algorithm and Its Validation in North Indians","article_path":"articles/PMC3358293.md","variant_annotation_id":981954447,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"acenocoumarol","pmid":22629463,"phenotype_category":"Dosage","significance":"no","notes":"No significant difference was seen between the daily dose for CYP4F2 wildtype patients and the daily dose for CYP4F2 variant carriers. This study provides an algorithm for predicting the maintenance dose of acenocoumarol using genotypes as well as clinical factors as predictive variables.","sentence":"Genotype CC is not associated with decreased dose of acenocoumarol as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3608305","article_title":"Effect of eNOS polymorphisms on salbutamol evoked endothelium dependent vasodilation in South Indian healthy subjects","article_path":"articles/PMC3608305.md","variant_annotation_id":1183682086,"variant_haplotypes":"rs2070744","gene":"NOS3","drugs":"salbutamol","pmid":23543259,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in the change in digital volume pulse parameters - reflection index and stiffness index - before and after salbutamol administration were seen between the two genotype groups. This indicates that this SNP does not affect salbutamol-evoked endothelium-dependent vasodilation.","sentence":"Genotype TT is not associated with response to salbutamol in healthy individuals as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC10499425","article_title":"Variant\u2010based heritability assessment of dexmedetomidine and fentanyl clearance in pediatric patients","article_path":"articles/PMC10499425.md","variant_annotation_id":1452141960,"variant_haplotypes":"rs111860321","gene":"CPPED1","drugs":"fentanyl","pmid":37353859,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Data from Table S3, direction of effect and risk allele not clear. Minor allele and frequency stated. Mapped to dbSNP using genomic location 16:12920566:C:T on hg19/GRCh37. \"GWAS failed to identify any variants meeting the genome-wide statistical significance threshold of 5\u2009\u00d7\u200910\u22128\" This is top scoring variant.","sentence":"Allele C is associated with decreased clearance of fentanyl in children with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC7028104","article_title":"CYP2B6*6 Genotype Specific Differences in Artemether\u2010Lumefantrine Disposition in Healthy Volunteers","article_path":"articles/PMC7028104.md","variant_annotation_id":1451123305,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"lumefantrine","pmid":31549442,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in in metabolic ratio or any other PK parameters assessed between the genotype groups.","sentence":"CYP2B6 *6/*6 is not associated with metabolism of lumefantrine in healthy individuals as compared to CYP2B6 *1/*1.","alleles":"*6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4364852","article_title":"Response to the dipeptidyl peptidase-4 inhibitors in Japanese patients with type 2 diabetes might be associated with a diplotype of two single nucleotide polymorphisms on the interleukin-6 promoter region under a certain level of physical activity","article_path":"articles/PMC4364852.md","variant_annotation_id":1452876807,"variant_haplotypes":"rs1800796","gene":"IL6","drugs":"alogliptin, linagliptin, sitagliptin, teneligliptin, vildagliptin","pmid":25802725,"phenotype_category":"Efficacy","significance":"no","notes":"\"The result showed that the diplotype rs1800796 G/*\u2013rs2097677 A/* had a lower risk for being non-responders than C/C-G/G in the moderate/high group (adjusted odds ratio 0.153, 95% CI 0.044\u20130.535, P = 0.003), but not in the low group (Table6).\"","sentence":"Allele G is associated with increased response to alogliptin, linagliptin, sitagliptin, teneligliptin or vildagliptin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954002,"variant_haplotypes":"rs2279287","gene":"BMAL1","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5167198","article_title":"KLB is associated with alcohol drinking, and its gene product \u03b2-Klotho is necessary for FGF21 regulation of alcohol preference","article_path":"articles/PMC5167198.md","variant_annotation_id":1449270476,"variant_haplotypes":"rs11940694","gene":"KLB","drugs":"ethanol","pmid":27911795,"phenotype_category":"Toxicity","significance":"yes","notes":"A GWAS of variants associated with alcohol drinking found that the A allele was associated with reduced levels of drinking.","sentence":"Allele A is associated with decreased dose of ethanol as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7197488","article_title":"Association of Regulatory Genetic Variants for Protein Kinase C \u03b1 with Mortality and Drug Efficacy in Patients with Heart Failure","article_path":"articles/PMC7197488.md","variant_annotation_id":1451133423,"variant_haplotypes":"rs9303504","gene":"PRKCA","drugs":"\"Ace Inhibitors, Plain\", \"Angiotensin II Antagonists\", \"Beta Blocking Agents\"","pmid":31728800,"phenotype_category":"Efficacy","significance":"no","notes":"The authors note that this variant was in strong LD with rs9909004.","sentence":"Allele G is not associated with response to Ace Inhibitors, Plain, Angiotensin II Antagonists or Beta Blocking Agents in people with Heart Failure as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757033,"variant_haplotypes":"rs339097","gene":"CALU","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele G is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC7115450","article_title":"Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial","article_path":"articles/PMC7115450.md","variant_annotation_id":1451148576,"variant_haplotypes":"rs7997012","gene":"HTR2A","drugs":"escitalopram","pmid":31721892,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to escitalopram in people with Depression as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3114195","article_title":"IL28B genetic variations are associated with high sustained virological response (SVR) of interferon-\u03b1 plus ribavirin therapy in Taiwanese chronic HCV infection","article_path":"articles/PMC3114195.md","variant_annotation_id":1444705526,"variant_haplotypes":"rs7248668","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":21346780,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype has decreased association with sustained virological response (SVR).","sentence":"Genotypes AA + AG is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3769669","article_title":"A published pharmacogenetic algorithm was poorly predictive of tacrolimus clearance in an independent cohort of renal transplant recipients","article_path":"articles/PMC3769669.md","variant_annotation_id":1183699973,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":23305195,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Genotype *1/*1 vs *3/*3 was reported. Clearance was estimated using the dose-normalized whole-blood trough concentration. The DeKAF algorithm was tested but it failed to predict tacrolimus clearance in this cohort.","sentence":"CYP3A5 *1/*1 is associated with increased clearance of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC5945500","article_title":"Correlation of MDR1 gene polymorphism with propofol combined with remifentanil anesthesia in pediatric tonsillectomy","article_path":"articles/PMC5945500.md","variant_annotation_id":1449311620,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"propofol, remifentanil","pmid":29755652,"phenotype_category":"Efficacy","significance":"no","notes":"Referred to as 3435 C>T in the paper. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to propofol and remifentanil in children as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170911,"variant_haplotypes":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2D6","drugs":"tamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of tamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11003701","article_title":"Escitalopram and sertraline population pharmacokinetic analysis in pediatric patients","article_path":"articles/PMC11003701.md","variant_annotation_id":1452263581,"variant_haplotypes":"CYP2C19 rapid metabolizer","gene":"CYP2C19","drugs":"escitalopram","pmid":37755681,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"On average, poor and intermediate metabolizers had 69% and 20%; slower CL/F relative to normal metabolizers, respectively,; whereas rapid and ultrarapid metabolizers had 18% and; 23% faster CL/F, respectively\"","sentence":"CYP2C19 ultrarapid metabolizer and rapid metabolizer is associated with increased clearance of escitalopram in children as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"ultrarapid metabolizer and rapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3753327","article_title":"Warfarin Anticoagulant Therapy: A Southern Italy Pharmacogenetics-Based Dosing Model","article_path":"articles/PMC3753327.md","variant_annotation_id":1183697701,"variant_haplotypes":"rs7294","gene":"VKORC1","drugs":"warfarin","pmid":23990957,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP was presented as VKORC1 3730G>A. Patients carrying the T allele showed significantly higher doses of warfarin as compared to patients with the wildtype genotype, CC.","sentence":"Genotypes CT + TT is associated with increased dose of warfarin in people with Cardiovascular Diseases as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4157963","article_title":"TAOK3, a novel genome-wide association study locus associated with morphine requirement and postoperative pain in a retrospective pediatric day surgery population","article_path":"articles/PMC4157963.md","variant_annotation_id":1450376124,"variant_haplotypes":"rs1277441","gene":"TAOK3","drugs":"morphine","pmid":24909733,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"Association described as 'nominally significant' in the paper and was only seen in European Caucasian patients. Please note that alleles have been complemented to the positive strand.","sentence":"Genotype GG is associated with increased dose of morphine in children with Pain, Postoperative as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC10876746","article_title":"The impact of folate pathway variants on the outcome of methotrexate therapy in rheumatoid arthritis patients","article_path":"articles/PMC10876746.md","variant_annotation_id":1452376480,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"methotrexate","pmid":38311638,"phenotype_category":"Efficacy","significance":"yes","notes":"\"This clarified that the 80 AA genotype of RFC1 G80A was linked to a better response to MTX treatment. Multivariate regression analysis confirmed this result. It showed that RFC1 (GA\u2009+\u2009GG) increased the risk of not responding to MTX by 3.838-fold.\" Alleles complemented to plus chromosomal strand.","sentence":"Genotype TT is associated with increased clinical benefit to methotrexate in people with Arthritis, Rheumatoid as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4938133","article_title":"5-HTR1A and 5-HTR2A genetic polymorphisms and SSRI antidepressant response in depressive Chinese patients","article_path":"articles/PMC4938133.md","variant_annotation_id":1452039840,"variant_haplotypes":"rs6311","gene":"HTR2A","drugs":"citalopram, fluoxetine, paroxetine, sertraline","pmid":27445478,"phenotype_category":"Efficacy","significance":"no","notes":"Response/remission measured using HAMD.","sentence":"Allele T is not associated with response to citalopram, fluoxetine, paroxetine or sertraline in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5509475","article_title":"ABCB1 Genotype is Associated with Fentanyl Requirements in Critically Ill Children","article_path":"articles/PMC5509475.md","variant_annotation_id":1450826600,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"fentanyl","pmid":28388599,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in average FLACC score between genotype groups.","sentence":"Genotype AA is not associated with response to fentanyl in children as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2751283","article_title":"CYP2D6 Genotyping as an alternative to phenotyping for determination of metabolic status in a clinical trial setting","article_path":"articles/PMC2751283.md","variant_annotation_id":1183629566,"variant_haplotypes":"CYP2D6*4, CYP2D6*15","gene":"CYP2D6","drugs":"debrisoquine, dextromethorphan","pmid":11741249,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Out of 558 subjects previously phenotyped for clinical studies and genotyped for this study, 46 PM were found. 1 of these 46 was *4/*15.","sentence":"CYP2D6 *4/*15 is associated with decreased metabolism of debrisoquine or dextromethorphan.","alleles":"*4/*15","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2950972","article_title":"Effects of Opioid Receptor Gene Variation on Targeted Nalmefene Treatment in Heavy Drinkers","article_path":"articles/PMC2950972.md","variant_annotation_id":1449161532,"variant_haplotypes":"rs963549","gene":"OPRK1","drugs":"nalmefene","pmid":18537939,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to nalmefene in people with Alcoholism as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6745302","article_title":"A functional variant in the serotonin receptor 7 gene (HTR7), rs7905446, is associated with good response to SSRIs in bipolar and unipolar depression","article_path":"articles/PMC6745302.md","variant_annotation_id":1450372675,"variant_haplotypes":"rs7905446","gene":"HTR7","drugs":"paroxetine","pmid":30874608,"phenotype_category":"Efficacy","significance":"yes","notes":"A 'good' response was determined as a 50% reduction in symptoms or episode frequency during the course of the illness.","sentence":"Genotype TT is associated with decreased response to paroxetine in people with Bipolar Disorder as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC4513254","article_title":"Race influences warfarin dose changes associated with genetic factors","article_path":"articles/PMC4513254.md","variant_annotation_id":1445296652,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":26024874,"phenotype_category":"Dosage","significance":"yes","notes":"in both European Americans and African Americans. However, the dose reduction per variant allele was higher among European Americans (28.3% vs 18.6%, interaction P value=0.002) compared with African Americans.","sentence":"Genotypes CT + TT are associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163596,"variant_haplotypes":"rs10264272","gene":"CYP3A5","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. Unlike most of the CYP3A variants, this did not pass validation the authors speculate this is because of low frequency particularly in the AA cohort.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC9373641","article_title":"The effect of alpha-2A adrenergic receptor (ADRA2A) genetic polymorphisms on the depth of sedation of dexmedetomidine: a genetic observational pilot study","article_path":"articles/PMC9373641.md","variant_annotation_id":1451445141,"variant_haplotypes":"rs1800545","gene":"ADRA2A","drugs":"dexmedetomidine","pmid":33915198,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of dexmedetomidine in men as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699054,"variant_haplotypes":"rs10858173","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170868,"variant_haplotypes":"CYP3A4 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP3A4","drugs":"4-hydroxytamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A4 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of 4-hydroxytamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7235792","article_title":"Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates","article_path":"articles/PMC7235792.md","variant_annotation_id":1451147580,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"ambrisentan, aripiprazole, atorvastatin, donepezil, olanzapine","pmid":32331352,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant changes in PK parameters in the presence of the A allele. The A allele is also referred to in the paper as the CYP3A4*22 allele.","sentence":"Allele A is not associated with metabolism of ambrisentan, aripiprazole, atorvastatin, donepezil or olanzapine in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4762905","article_title":"Polymorphisms in the ABCB1 gene and effect on outcome and toxicity in childhood acute lymphoblastic leukemia","article_path":"articles/PMC4762905.md","variant_annotation_id":1445297288,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"doxorubicin, methotrexate, prednisolone, vincristine","pmid":25582575,"phenotype_category":"Efficacy","significance":"no","notes":"No statistically significant differences in relapse risk were found between the alleles or genotypes of rs2032582 G>A/T. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with resistance to doxorubicin, methotrexate, prednisolone and vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele C.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6613715","article_title":"Pharmacogenetic analysis of belimumab fails to identify robust genetic predictors of efficacy in lupus","article_path":"articles/PMC6613715.md","variant_annotation_id":1450415186,"variant_haplotypes":"rs293983","gene":"ANO3","drugs":"belimumab","pmid":31058715,"phenotype_category":"Efficacy","significance":"no","notes":"Confirmatory analysis of the SRI4 end point in an independent phase 3 study of SLE patients from northeast Asia could not confirm evidence of an association between rs293983 and SRI4 response.","sentence":"Allele T is not associated with response to belimumab in people with Lupus erythematosus as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lupus erythematosus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6219441","article_title":"Comprehensive Ara-C SNP score predicts leukemic cell intracellular ara-CTP levels in pediatric acute myeloid leukemia patients","article_path":"articles/PMC6219441.md","variant_annotation_id":1449752045,"variant_haplotypes":"rs12067645","gene":"CTPS1","drugs":"ara-CTP","pmid":30088438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes AA + AG is associated with increased concentrations of ara-CTP in children with Leukemia, Myeloid, Acute as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2913479","article_title":"Association of Genetic Variation in Cystathionine-\u03b2-Synthase and Arsenic Metabolism","article_path":"articles/PMC2913479.md","variant_annotation_id":769165235,"variant_haplotypes":"rs234709","gene":"CBS","drugs":"Arsenic compounds","pmid":20670920,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"measured as as excreted monomethylarsonic acid.","sentence":"Genotypes CT + TT are associated with increased metabolism of Arsenic compounds as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4526634","article_title":"Association of ABCB1 and FLT3 Polymorphisms with Toxicities and Survival in Asian Patients Receiving Sunitinib for Renal Cell Carcinoma","article_path":"articles/PMC4526634.md","variant_annotation_id":1446754341,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"sunitinib","pmid":26244574,"phenotype_category":"Efficacy","significance":"no","notes":"The genotype was not associated with clinical benefit, progression free survival, or overall survival. However a haplotype containing this variant (haplotype rs1045642 T, rs1128503 T, and rs2032582 T) was significant. Clinical benefit was defined as either partial response or stable disease. Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AA is not associated with response to sunitinib in people with Carcinoma, Renal Cell as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672768,"variant_haplotypes":"rs200554095","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele A is associated with decreased metabolism of nicotine as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113838,"variant_haplotypes":"rs609148","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele A is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4017364","article_title":"IFNL4-\u0394G Genotype Is Associated With Slower Viral Clearance in Hepatitis C, Genotype-1 Patients Treated With Sofosbuvir and Ribavirin","article_path":"articles/PMC4017364.md","variant_annotation_id":1451338240,"variant_haplotypes":"rs11322783","gene":"IFNL4","drugs":"ribavirin, sofosbuvir","pmid":24367041,"phenotype_category":"Efficacy","significance":"yes","notes":"in hepatitis C, genotype-1 patients. Delta-G genotype is also associated with slower viral clearance in hepatitis C, genotype-1 patients treated with sofosbuvir and ribavirin.","sentence":"Genotype GG is associated with decreased response to ribavirin and sofosbuvir in people with Hepatitis C, Chronic as compared to genotypes G/TT + TT/TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G/TT + TT/TT","comparison_metabolizer_types":null} +{"pmcid":"PMC10309098","article_title":"Pharmacogenetic interactions of efavirenz or rifampin and isoniazid with levonorgestrel emergency contraception during treatment of HIV or tuberculosis","article_path":"articles/PMC10309098.md","variant_annotation_id":1452472940,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"levonorgestrel","pmid":37306344,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Study investigated the effect on steady-state drugs used to treat HIV or tuberculosis on the pharmacokinetics of single dose levonorgestrel. Association found in the cohort treated with Isoniazid and rifampin.; Slow acetylators were defined as being homozygous for the NAT2*5, *6, *7 and/or *14 alleles or being heterozygous at at least 2 loci.","sentence":"NAT2 slow acetylator is associated with decreased clearance of levonorgestrel in women with Tuberculosis as compared to NAT2 rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"rapid acetylator"} +{"pmcid":"PMC11421434","article_title":"Exploring Genetic Variants and Platinum Chemotherapy Response in Indonesian Non-Small Cell Lung Cancer Patients: Insights from ERCC2 rs13181","article_path":"articles/PMC11421434.md","variant_annotation_id":1452617220,"variant_haplotypes":"rs13181","gene":"ERCC2","drugs":"Platinum compounds","pmid":39319218,"phenotype_category":"Efficacy","significance":"no","notes":"Alleles complemented. \"Based on the statistical analysis results, no significant association was found with chemotherapy response (P>0,05) (Table 4).\"","sentence":"Genotypes GG + GT is not associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC8184575","article_title":"Effect of race and glucuronidation rates on the relationship between nicotine metabolite ratio and nicotine clearance","article_path":"articles/PMC8184575.md","variant_annotation_id":1451700080,"variant_haplotypes":"rs835309","gene":"UGT2B10","drugs":"nicotine","pmid":33675323,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No effect of the UGT2B10 variant genotypes on the ability of plasma nicotine metabolite ratio to predict nicotine clearance.","sentence":"Allele G is not associated with clearance of nicotine as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756063,"variant_haplotypes":"rs1867380","gene":"AQP9","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele A is not associated with response to platinum in people with Lung Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114820,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and clearance of lopinavir or ritonavir in patients treated with lopinavir/ritonavir. Variant referred to in the paper as A6986G.","sentence":"Allele C is not associated with clearance of lopinavir or ritonavir in children with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144262,"variant_haplotypes":"rs3919583","gene":null,"drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954051,"variant_haplotypes":"rs34897046","gene":"CLOCK","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4343187","article_title":"CHRNA4 rs1044396 is associated with smoking cessation in varenicline therapy","article_path":"articles/PMC4343187.md","variant_annotation_id":1445402137,"variant_haplotypes":"rs2236196","gene":"CHRNA4","drugs":"varenicline","pmid":25774163,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotypes AA + AG is not associated with response to varenicline in people with Tobacco Use Disorder as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436527,"variant_haplotypes":"rs11854484","gene":"SLC28A2","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373158,"variant_haplotypes":"rs562859","gene":"OPRM1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"Although this SNP initially showed a significant association with both MMT compliance and 'negative rate of morphine urine test', significance in both associations was lost following adjusting for age, sex and methadone dosage.; Note that although this variant is located in MTRF1L, it is discussed in the paper as being an OPRM1 SNP.; Please note that alleles have been complemented to the positive strand.","sentence":"Genotype TT is not associated with response to methadone in people with Heroin Dependence as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491533,"variant_haplotypes":"rs12069113","gene":"MOV10","drugs":"atenolol","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in diastolic blood pressure (DBP) after 9 weeks of treatment.","sentence":"Allele C is not associated with response to atenolol in people with Hypertension as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3237821","article_title":"ASSOCIATIONS OF ABCB1 3435C>T AND IL-10 -1082G>A POLYMORPHISMS WITH LONG-TERM SIROLIMUS DOSE REQUIREMENTS IN RENAL TRANSPLANT PATIENTS","article_path":"articles/PMC3237821.md","variant_annotation_id":1448567945,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"sirolimus","pmid":22094953,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in log-transformed dose-adjusted trough concentrations (C/D) was seen between any of the genotypes CC, CT or TT. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is not associated with dose-adjusted trough concentrations of sirolimus in people with Kidney Transplantation as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672772,"variant_haplotypes":"rs772964366","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele G is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC9601332","article_title":"The Pharmacogenetics of Cannabis in the Treatment of Chronic Pain","article_path":"articles/PMC9601332.md","variant_annotation_id":1451930580,"variant_haplotypes":"rs8065080","gene":"TRPV1","drugs":"cannabinoids","pmid":36292717,"phenotype_category":"Efficacy","significance":"yes","notes":"\"CC homozygous patients for the TRPV1 gene obtained an average pain decrease of 2 VAS points, compared to the 1.3 VAS points of TT homozygotes or CT heterozygotes.\"","sentence":"Genotype CC is associated with increased clinical benefit to cannabinoids in people with Pain as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934449,"variant_haplotypes":"rs1569304898","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the T allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Gly85Asp in the paper.","sentence":"Allele T is associated with increased response to migalastat in people with Fabry Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703691,"variant_haplotypes":"rs7706429","gene":"FBXL17","drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in diastolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele G is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5875925","article_title":"Pharmacogenetics of Asthma Controller Treatment","article_path":"articles/PMC5875925.md","variant_annotation_id":1183703313,"variant_haplotypes":"rs1876828","gene":"CRHR1","drugs":"fluticasone propionate","pmid":22370858,"phenotype_category":"Efficacy","significance":"yes","notes":"The minor allele is reported to be associated with increased response. dbSNP lists A as the minor allele in a CEU panel. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele T is associated with increased response to fluticasone propionate in people with Asthma as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479718,"variant_haplotypes":"rs2472300","gene":"CYP1A2","drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5152628","article_title":"Genome-wide association study of paliperidone efficacy","article_path":"articles/PMC5152628.md","variant_annotation_id":1449005569,"variant_haplotypes":"rs56240334","gene":"ADCK1","drugs":"paliperidone","pmid":27846195,"phenotype_category":"Efficacy","significance":"no","notes":"Authors suggest this SNP has \"suggestive signals\" since trend in response was seen by reduction in PANSS scores, Marder positive and Marder negative scores and CGI scores although it was not at genome wise significance level and was consistent across all three cohort used in meta-analysis.","sentence":"Allele G is associated with increased response to paliperidone in people with as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3158597","article_title":"Genotype-Guided Tamoxifen Dosing Increases Active Metabolite Exposure in Women With Reduced CYP2D6 Metabolism: A Multicenter Study","article_path":"articles/PMC3158597.md","variant_annotation_id":1448265615,"variant_haplotypes":"CYP2D6 poor metabolizers and intermediate metabolizers","gene":"CYP2D6","drugs":"endoxifen","pmid":21768473,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Median baseline endoxifen concentrations are significantly higher in patients with the extensive metabolizer genotype as compared to those with the intermediate metabolizer (46% higher, p=0.0045) or poor metabolizer (88% higher, p<0.001) genotypes. Additionally, the median endoxifen concentration was 77% lower in poor metabolizers than intermediate metabolizers (p=0.0006). This study looked at whether giving poor and intermediate metabolizers a higher tamoxifen dose resulted in more similar endoxifen concentrations as compared to extensive metabolizers.","sentence":"Genotypes *3 + *4 + *5 + *6 + *9 + *10 + *17 + *29 + *41 (assigned as intermediate metabolizer and poor metabolizer phenotype) are associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to genotypes *1 + *2 + *35 (assigned as normal metabolizer phenotype) .","alleles":"*3 + *4 + *5 + *6 + *9 + *10 + *17 + *29 + *41","specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *2 + *35","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340124,"variant_haplotypes":"rs8050894","gene":"VKORC1","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, this variant is associated with 11.7mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"Genotypes CG + GG are associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC11730665","article_title":"Comparative efficacy and safety of sitagliptin or gliclazide combined with metformin in treatment-naive patients with type 2 diabetes: A single-center, prospective, randomized, controlled, noninferiority study with genetic polymorphism analysis","article_path":"articles/PMC11730665.md","variant_annotation_id":1453076001,"variant_haplotypes":"rs3765467","gene":"GLP1R","drugs":"sitagliptin","pmid":39792745,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Conversely, patients with the rs3765467 AG genotype in the study group demonstrated a median HbA1c improvement of 1.42 (IQR, 1.22\u20131.68) compared with 1.08 (IQR, 0.97\u20131.15) in the control group (P\u2005=\u2005.023), indicating favorable responses to both treatments.\"","sentence":"Genotype AG is associated with increased response to sitagliptin in people with Diabetes Mellitus, Type 2.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC9890192","article_title":"Associations between CES1 variants and dosing and adverse effects in children taking methylphenidate","article_path":"articles/PMC9890192.md","variant_annotation_id":1452009386,"variant_haplotypes":"rs74019272","gene":"CES1","drugs":"methylphenidate","pmid":36741090,"phenotype_category":"Dosage","significance":"no","notes":"Authors never explicitly state which allele is associated with lower dose but do show that it is minor allele in figure 6. The frequencies in gnomAD for all populations show G as major allele and A as minor allele. This was not significant after Benjamini-Hochberg correction for multiple hypothesis testing which the authors state \"may be too stringent\".","sentence":"Genotypes AA + AG is associated with decreased dose of methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11667419","article_title":"Dual single\u2011nucleotide polymorphism biomarker combination for opioid selection to treat cancer pain","article_path":"articles/PMC11667419.md","variant_annotation_id":1452798200,"variant_haplotypes":"rs4778889","gene":"IL16","drugs":"morphine","pmid":39720462,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Morphine tended to provide superior analgesic effect over oxycodone in patients with the IL-16 rs4778889 TT genotype and the CCL11 rs17809012 AG/GG genotype (n=45), while a trend towards a greater analgesic effect of oxycodone was observed in patients with other genotype combinations of these SNPs (n=93) (P=0.0012 for the interaction)\"","sentence":"Genotype TT is associated with increased clinical benefit to morphine in people with Neoplasms and Pain as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms, Other:Pain","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5346878","article_title":"Tacrolimus dose requirements in paediatric renal allograft recipients are characterized by a biphasic course determined by age and bone maturation","article_path":"articles/PMC5346878.md","variant_annotation_id":1449171352,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":27966227,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Dose-corrected tacrolimus exposure (AUC0-12/doseBW).","sentence":"CYP3A5 *3/*3 is associated with increased concentrations of tacrolimus in children with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC6142943","article_title":"Association of Genetic Variants With Response to Anti\u2013Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration","article_path":"articles/PMC6142943.md","variant_annotation_id":1449566994,"variant_haplotypes":"rs241692","gene":"FHIT","drugs":"bevacizumab, ranibizumab","pmid":29852030,"phenotype_category":"Efficacy","significance":"no","notes":"The authors performed GWAS in a discovery cohort, and did a replication analysis.","sentence":"Allele G is not associated with response to bevacizumab and ranibizumab in people with as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC8975736","article_title":"Identification of sex-specific genetic associations in response to opioid analgesics in a White, non-Hispanic cohort from Southeast Minnesota","article_path":"articles/PMC8975736.md","variant_annotation_id":1451692692,"variant_haplotypes":"rs76026520","gene":"MACROD2","drugs":"hydrocodone, oxycodone","pmid":35102242,"phenotype_category":"Efficacy","significance":"yes","notes":"variant is described as\"protective\" against poor pain control.","sentence":"Allele G is associated with increased clinical benefit to hydrocodone or oxycodone in people with Pain as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6014560","article_title":"Genetic Variants in CPA6 and PRPF31 Are Associated With Variation in Response to Metformin in Individuals With Type 2 Diabetes","article_path":"articles/PMC6014560.md","variant_annotation_id":1449295802,"variant_haplotypes":"rs2162145","gene":"CPA6","drugs":"metformin","pmid":29650774,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP is associated with changes in HbA1C in white patients.","sentence":"Allele T is associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC1887589","article_title":"A genome-wide approach to identify genetic variants that contribute to etoposide-induced cytotoxicity","article_path":"articles/PMC1887589.md","variant_annotation_id":981240140,"variant_haplotypes":"rs446112","gene":null,"drugs":"etoposide","pmid":17537913,"phenotype_category":"Other","significance":"yes","notes":null,"sentence":"Genotype AA is associated with increased resistance to etoposide as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032363,"variant_haplotypes":"rs2289658","gene":"NTRK2","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was statistically significant after permutation analysis based on 40,000 replicates, but not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction).","sentence":"Genotypes CC + CT are associated with increased dose of methadone in people with Heroin Dependence as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC10825484","article_title":"The atorvastatin metabolite pattern in muscle tissue and blood plasma is associated with statin muscle side effects in patients with coronary heart disease; An exploratory case-control study","article_path":"articles/PMC10825484.md","variant_annotation_id":1452373069,"variant_haplotypes":"rs12422149","gene":"SLCO2B1","drugs":"4-hydroxyatorvastatin, 4-hydroxyatorvastatin lactone","pmid":38293288,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Comparison was for \"4-OH-ATV lactone/acid\" vs \"SLCO2B1 c.935 GA\" vs \"No variant\" (SLCO1B1 c.521 TT and SLCO2B1 c.935GG) Supplementary 2-Table 1.","sentence":"Genotype AG is associated with increased concentrations of 4-hydroxyatorvastatin and 4-hydroxyatorvastatin lactone in people with Coronary Disease as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6461793","article_title":"Effects of SLCO1B1 and GATM gene variants on rosuvastatin-induced myopathy are unrelated to high plasma exposure of rosuvastatin and its metabolites","article_path":"articles/PMC6461793.md","variant_annotation_id":1451228580,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"rosuvastatin","pmid":29950617,"phenotype_category":"Metabolism/PK","significance":"no","notes":"SLCO1B1 521T>C (rs4149056) in patients with one or two copies of the variant allele had a significantly high plasma exposure to RST, whereas the significance was not found after multiple testing (Padj = 0.0247, FDR = 0.0988),","sentence":"Genotypes CC + CT are associated with increased concentrations of rosuvastatin as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5795999","article_title":"Relationship between Lipid Phenotypes, Overweight, Lipid Lowering Drug Response and KIF6 and HMG-CoA Genotypes in a Subset of the Brisighella Heart Study Population","article_path":"articles/PMC5795999.md","variant_annotation_id":1452362389,"variant_haplotypes":"rs9471077","gene":"KIF6","drugs":"hmg coa reductase inhibitors","pmid":29295555,"phenotype_category":"Efficacy","significance":"no","notes":"With regard to lipid-lowering therapy with statins, the authors did not find any association between HMG-CoA or KIF6 genotypes and achievement of <130 mg/dL LDL-C level.","sentence":"Genotypes AA + AG are not associated with response to hmg coa reductase inhibitors as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5509475","article_title":"ABCB1 Genotype is Associated with Fentanyl Requirements in Critically Ill Children","article_path":"articles/PMC5509475.md","variant_annotation_id":1450826595,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"fentanyl","pmid":28388599,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in fentanyl blood levels between genotype groups.","sentence":"Genotype AA is not associated with concentrations of fentanyl in children as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3610685","article_title":"Genome-Wide Association Study and Gene Expression Analysis Identifies CD84 as a Predictor of Response to Etanercept Therapy in Rheumatoid Arthritis","article_path":"articles/PMC3610685.md","variant_annotation_id":981939609,"variant_haplotypes":"rs6427528","gene":"CD84","drugs":"etanercept","pmid":23555300,"phenotype_category":"Efficacy","significance":"no","notes":"This association was not significant after correction for multiple testing. p = 8 x 10 (-8); more than 2 x 10(6) SNPs were used.","sentence":"Genotypes AA + AG are associated with increased response to etanercept in people with Arthritis, Rheumatoid as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC7375952","article_title":"Genetic variants in CYP2A6 and UGT1A9 genes associated with urinary nicotine metabolites in young Mexican smokers","article_path":"articles/PMC7375952.md","variant_annotation_id":1451409712,"variant_haplotypes":"rs12471326","gene":"UGT1A9","drugs":"cotinine glucuronide","pmid":31959879,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype CT is associated with increased concentrations of cotinine glucuronide as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3899768","article_title":"SLC28A3 genotype and gemcitabine rate of infusion affect dFdCTP metabolite disposition in patients with solid tumours","article_path":"articles/PMC3899768.md","variant_annotation_id":1184174886,"variant_haplotypes":"rs747199","gene":"SLC29A1","drugs":"gemcitabine","pmid":24300978,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Gemcitabine, dFdCTP, and dFdU plasma concentrations were measured before (5, 15, 30, 45 min) and after gemcitabine infusion (1, 1.25, 1.5, 2, 6, 24, 48, 72 hrs). Population pharmacokinetic analysis of gemcitabine and metabolites (dFdU, dFdCTP) were performed by non-linear mixed effects modeling. No association was found between rs747199 and metabolism of gemcitabine.","sentence":"Genotype GG is not associated with metabolism of gemcitabine as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} +{"pmcid":"PMC6033076","article_title":"Comprehensive Pharmacogenomic Study Reveals an Important Role of UGT1A3 in Montelukast Pharmacokinetics","article_path":"articles/PMC6033076.md","variant_annotation_id":1449576542,"variant_haplotypes":"CYP2C8*1, CYP2C8*4","gene":"CYP2C8","drugs":"montelukast","pmid":28940478,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The allele is associated with increased area under the plasma concentration-time curve (AUC) of montelukast (12.7% increase per copy of each allele, P=0.0184) from the candidate gene study.","sentence":"CYP2C8 *4 is associated with increased concentrations of montelukast in healthy individuals as compared to CYP2C8 *1/*1.","alleles":"*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4231027","article_title":"Predictive Value of Interferon-Lambda Gene Polymorphisms for Treatment Response in Chronic Hepatitis C","article_path":"articles/PMC4231027.md","variant_annotation_id":1444665876,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":25393304,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients were analyzed by HCV genotype (1,2,3,4). Patients with HCV genotype 1 were divided into groups receiving dual therapy (GT1 (d); peg-intron alpha 2a/b, ribavirn) or triple therapy (GT1 (t); peg-intron alpha 2a/b, ribavirn, telaprevir). Sustained virological response (SVR) is a measure of therapeutic efficacy. Variables that were significant in univariate analysis were included in the multivariate analysis. The authors designated three \"beneficial\" genotypes that were found at higher frequencies in patients who achieved SVR: rs12979860 CC, rs8099917 TT, rs368234815 TT/TT. These genotypes were often found together. 98% of patients with GT1 (d), 100% of patients with GT1(t), 96% of patients with HCV genotype 2, 92% of patients with HCV genotype 3 and 98% of patients with HCV genotype 4 had those genotype combinations.; rs8099917 TT was the strongest predictor of SVR in GT1(t) patients (p=0.026) and was strongly correlated with SVR in patients infected with HCV genotype 4 (P<0.001). In univariate analysis, the TT genotype was a significant predictor of SVR in GT1(d) (p<0.01) and GT1(t) (p=0.02). The TT genotype was found to be significant in a multivariate analysis of predictive factors of SVR within all HCV genotype 1 infected patients. The CC genotype was also associated with higher HCV RNA concentration at baseline in patients with HCV genotype 3 (p=0.005), 2/3 (p=0.017) and GT1(d) (p<0.001) as well as increased ALT levels in HCV genotype 2/3 (p=0.077).","sentence":"Genotype TT is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC11891766","article_title":"Association of NR1I2 Polymorphism with Midazolam Clearance in Mechanically Ventilated ICU Patients: A Population Pharmacokinetic and Pharmacogenetic Study","article_path":"articles/PMC11891766.md","variant_annotation_id":1453068540,"variant_haplotypes":"rs2461817","gene":"NR1I2","drugs":"midazolam","pmid":40066084,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Patients with the rs2461817 mutant homozygous genotype had higher MDZ plasma concentrations compared to those with wild-type homozygous or mutant heterozygous genotypes. In addition, the CL value decreases from 22.6 L/h to 13.4 L/h in these patients (Figure 6).\" Its unclear if \"wild-type\" means reference allele on GRCh38 (which is A) or major allele in the population (likely C), assumed reference allele in this annotation.","sentence":"Genotype CC is associated with increased concentrations of midazolam in people with respiratory failure requiring assisted ventilation as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:respiratory failure requiring assisted ventilation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC10452379","article_title":"Novel Gene Polymorphisms for Stable Warfarin Dose in a Korean Population: Genome-Wide Association Study","article_path":"articles/PMC10452379.md","variant_annotation_id":1452221233,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":37626805,"phenotype_category":"Dosage","significance":"yes","notes":"in univariate analysis of patients on stable dose. \"VKORC1 rs9934438 GG genotype required 9.74 \u00b1 2.18 mg/day, whereas those with AA and AG genotypes needed 5.41 \u00b1 1.84 mg/day\"","sentence":"Genotype GG is associated with increased dose of warfarin in people with heart valve replacement as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC6767327","article_title":"Enantiospecific Pharmacogenomics of Fluvastatin","article_path":"articles/PMC6767327.md","variant_annotation_id":1450823480,"variant_haplotypes":"rs77760615","gene":"CYP2C9","drugs":"fluvastatin","pmid":30989645,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant is significantly associated with increased area under the plasma concentration-time curve (AUC) of both 3R,5S-fluvastatin and 3S,5R-fluvastatin and total fluvastatin. The AUC was 82% larger per copy of the variant allele. This variant is in complete LD with CYP2C9*3.","sentence":"Allele G is associated with increased concentrations of fluvastatin in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161481,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"methadone","pmid":21589866,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in genotype or phenotype frequencies between responders and non-responders, as defined by drug misuse during methadone maintenance therapy. No details about which specific variants/alleles were tested for.","sentence":"CYP2C19 *1/*2 + *2/*2 are not associated with response to methadone in people with Opioid-Related Disorders as compared to CYP2C19 *1/*1.","alleles":"*1/*2 + *2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5903228","article_title":"The impact of diuretic use and ABCG2 genotype on the predictive performance of a published allopurinol dosing tool","article_path":"articles/PMC5903228.md","variant_annotation_id":1449166191,"variant_haplotypes":"rs17300741","gene":"SLC22A11","drugs":"allopurinol","pmid":29341237,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of allopurinol in people with Gout as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Gout","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032054,"variant_haplotypes":"rs7934165","gene":"BDNF","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was not statistically significant after permutation analysis based on 40,000 replicates, or statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction). Note; this SNP was in LD with rsrs10835210 (r^2>0.7) and not independent. Alleles were reported as T/C, here they are complemented with A representing T and G representing C for the positive chromosomal strand.","sentence":"Genotype AA is associated with increased dose of methadone in people with Heroin Dependence as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6219441","article_title":"Comprehensive Ara-C SNP score predicts leukemic cell intracellular ara-CTP levels in pediatric acute myeloid leukemia patients","article_path":"articles/PMC6219441.md","variant_annotation_id":1449752006,"variant_haplotypes":"rs11853372","gene":"SLC28A1","drugs":"ara-CTP","pmid":30088438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT is associated with decreased concentrations of ara-CTP in children with Leukemia, Myeloid, Acute as compared to genotypes GG + GT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC5342670","article_title":"IL-3 and CTLA4 gene polymorphisms may influence the tacrolimus dose requirement in Chinese kidney transplant recipients","article_path":"articles/PMC5342670.md","variant_annotation_id":1448613202,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"tacrolimus","pmid":28112181,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was significant in CYP3A5 nonexpressers and CYP3A5 expressers. The time of measurement for a significant association was 7 days after transplantation for the CYP3A5 expressers and 90 days after transplantation for the CYP3A5 nonexpressers. For CYP3A5 expressers, a significant difference in exposure was not observed at time 30 and 90 days after transplantation. In the CYP3A5 nonexpressers, a significant difference in exposure was seen at 90 days post transplantation but not at day 7 or 30.","sentence":"Genotype CC is associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4615534","article_title":"Comparison of Functional Variants in IFNL4 and IFNL3 for Association with Hepatitis C Virus Clearance","article_path":"articles/PMC4615534.md","variant_annotation_id":1445205151,"variant_haplotypes":"rs11322783","gene":"IFNL4","drugs":"peginterferon alfa-2a, ribavirin","pmid":26186989,"phenotype_category":"Efficacy","significance":"yes","notes":"in African-American patients. The associations were stronger for IFNL4-rs368234815 than rs4803217 for undetectable HCV RNA at week 24 in Virahep C (p=0.03) and week 20 in HALT-C (p=0.03).","sentence":"Genotypes G/TT + TT/TT are associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to genotype GG.","alleles":"G/TT + TT/TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10349800","article_title":"Correlation of N-acetyltransferase 2 genotype and acetylation status with plasma isoniazid concentration and its metabolic ratio in ethiopian tuberculosis patients","article_path":"articles/PMC10349800.md","variant_annotation_id":1452191900,"variant_haplotypes":"NAT2*4, NAT2*6, NAT2*7, NAT2*14, NAT2*16","gene":"NAT2","drugs":"isoniazid","pmid":37454203,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Originally annotated as NAT2 *5/*14 + *5/*5 + *5/*6 + *5/*7 + *6/*14 + *6/*6 + *6/*7 (assigned as slow acetylator phenotype) compared to NAT2 *4/*14 + *4/*5 + *4/*6 + *4/*7 (assigned as intermediate acetylator phenotype). \"There was a significant difference in isoniazid AUC0\u20137 h between acetylator groups. The overall median isoniazid AUC0\u20137 h for slow, intermediate, and fast acetylators was 13.09 \u00b5g.h/mL, 6.09 \u00b5g.h/mL, and 3.73 \u00b5g.h/mL, respectively. The variation of AUC0\u20137 h between the slow genotype group and the other two groups is high (p\u2009<\u20090.001).\" \"The frequency distribution of NAT2*4, *5, *6, *7, and *14 alleles in Ethiopian tuberculosis patients were 14.6%, 47.1%, 31.3%, 5.4%, and 1.7%, respectively. \" Based on the Methods section the alleles are determined the following each SNP: C___1204093_20 for NAT2*5 (c.341 T>C, rs1801280), C___1204091_10 for NAT2*6 (c.590G>A, rs1799930), C____572770_20 for NAT2*7 (c.857G>A, rs1799931), C____572770_20 for NAT2*14 (191G>A, rs1801279). Those are mapped for the annotation to *16, *6, *7, *14 as those are defined by the single SNPs.; The arylamine N-acetyltransferases (NATs) database was transitioned into the PharmVar database in March 2024. The alleles included in this annotation are mapped as following: NAT2*14A under the *14 core allele; NAT2*5D under the *16 core allele; NAT2*6B under the *6 core allele; NAT2*7A under the *7 core allele.","sentence":"NAT2 *16/*14 + *16/*16 + *16/*6 + *16/*7 + *6/*14 + *6/*6 + *6/*7 (assigned as slow acetylator phenotype) is associated with increased concentrations of isoniazid in people with Tuberculosis as compared to NAT2 *4/*14 + *4/*16 + *4/*6 + *4/*7 (assigned as intermediate acetylator phenotype) .","alleles":"*16/*14 + *16/*16 + *16/*6 + *16/*7 + *6/*14 + *6/*6 + *6/*7","specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*4/*14 + *4/*16 + *4/*6 + *4/*7","comparison_metabolizer_types":"intermediate acetylator"} +{"pmcid":"PMC6510382","article_title":"VKORC1 and Novel CYP2C9 Variation Predict Warfarin Response in Alaska Native and American Indian People","article_path":"articles/PMC6510382.md","variant_annotation_id":1450370821,"variant_haplotypes":"rs3093153","gene":"CYP4F2","drugs":"warfarin","pmid":30821933,"phenotype_category":"Dosage","significance":"no","notes":"in Alaska Native and American Indian People.","sentence":"Allele C is not associated with dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3080643","article_title":"Effects of CYP2C9*1/*13 on the pharmacokinetics and pharmacodynamics of meloxicam","article_path":"articles/PMC3080643.md","variant_annotation_id":1451092671,"variant_haplotypes":"CYP2C9*1, CYP2C9*13","gene":"CYP2C9","drugs":"meloxicam","pmid":21395648,"phenotype_category":"PD, Metabolism/PK","significance":"yes","notes":"Individuals with *1/*13 had 2.43- and 1.46-fold higher AUC and Cmax than in the CYP2C9*1/*1 group. The oral clearance of meloxicam is 37.9% of wild type. The CYP2C9*1/*13 genotype is also associated with increased pharmacodynamic effects of meloxicam. Individuals with *1/*13 had greater inhibition of TXB2 generation ( lower rate of TXB(2) production) than in the CYP2C9*1/*1 group.","sentence":"CYP2C9 *1/*13 is associated with decreased metabolism of meloxicam in healthy individuals as compared to CYP2C9 *1/*1.","alleles":"*1/*13","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5651327","article_title":"Pretransplant 4\u03b2\u2010hydroxycholesterol does not predict tacrolimus exposure or dose requirements during the first days after kidney transplantation","article_path":"articles/PMC5651327.md","variant_annotation_id":1448635431,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":28603840,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP3A5 *1A genotype was associated with lower trough tacrolimus concentrations (C0) (beta = (-1.739) (95% CI: (-2.517) \u2013 (-0.962); P <0.001)) and lower C0/dose ratios (beta = (-0.675) (95% CI: (-0.938) \u2013 (-0.412); P <0.001)","sentence":"CYP3A5 *1 is associated with decreased trough concentration of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3.","alleles":"*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3","comparison_metabolizer_types":null} +{"pmcid":"PMC2679107","article_title":"Effects of UGT1A1*28 polymorphism on raloxifene pharmacokinetics and pharmacodynamics","article_path":"articles/PMC2679107.md","variant_annotation_id":1451162800,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"raloxifene 6-glucuronide, raloxifene-4\u2032-glucuronide","pmid":19371317,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"M1 is raloxifene 6-glucuronide, M2 is raloxifene-4-glucuronide.","sentence":"UGT1A1 *28/*28 is associated with increased concentrations of raloxifene 6-glucuronide and raloxifene-4\u2032-glucuronide in women with Osteoporosis as compared to UGT1A1 *1/*1 + *1/*28.","alleles":"*28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Osteoporosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*28","comparison_metabolizer_types":null} +{"pmcid":"PMC2564574","article_title":"Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation","article_path":"articles/PMC2564574.md","variant_annotation_id":982044357,"variant_haplotypes":"rs2884737","gene":"VKORC1","drugs":"warfarin","pmid":16611750,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele C is associated with decreased dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165213,"variant_haplotypes":"rs12943590","gene":"SLC47A2","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with exposure to metformin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5887212","article_title":"Cholinergic receptor nicotinic alpha 5 subunit polymorphisms are associated with smoking cessation success in women","article_path":"articles/PMC5887212.md","variant_annotation_id":1450928798,"variant_haplotypes":"rs1051730","gene":"CHRNA3","drugs":"bupropion, nicotine, varenicline","pmid":29621993,"phenotype_category":"Efficacy","significance":"no","notes":"No significant effect of genotype on likelihood of being abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to bupropion, nicotine or varenicline in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451114040,"variant_haplotypes":"rs204076","gene":"OPRD1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy. This is a T/A/G SNP. Based on allele frequencies reported by dbSNP, it has been assumed that the major allele in this study is A and the minor allele is T.","sentence":"Allele T is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002405,"variant_haplotypes":"rs3772810","gene":"UMPS","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"no","notes":"pfSNP identified 2800 SNPS associated with key-words: 5-FU, capecitabine and oxilaplatin and colorectal cancer. Various criteria were used to determine 1536 SNPs to genotype. These SNPs were genotyped in a discovery cohort (N=62) and tested in a validation cohort (N=27). Both cohorts consisted of patients with colorectal cancer metastasis in liver. 36 SNPs were initially significantly associated with drug response but only 3 remained significant in the validation cohort (before Bonferroni correction): rs2291078 A, rs3772809 G, rs3772810 G. All three SNPs were in perfect LD, and were initially associated with the non-responder phenotype, but the association did not remain significant after Bonferroni correction.","sentence":"Allele G is associated with decreased response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5590735","article_title":"Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin","article_path":"articles/PMC5590735.md","variant_annotation_id":1448994461,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"efavirenz","pmid":28886044,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This is stated in the paper, but supporting data is not shown.","sentence":"Allele A is not associated with concentrations of efavirenz in children with HIV Infections as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4805204","article_title":"Robust Stimulation of W1282X-CFTR Channel Activity by a Combination of Allosteric Modulators","article_path":"articles/PMC4805204.md","variant_annotation_id":1447980773,"variant_haplotypes":"rs77010898","gene":"CFTR","drugs":"curcumin, ivacaftor","pmid":27007499,"phenotype_category":"Efficacy","significance":"yes","notes":"This is a cell based study with measuring channel activity in polarized FRT epithelial monolayers.","sentence":"Genotypes AA + AG are associated with response to curcumin and ivacaftor in people with Cystic Fibrosis as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4788379","article_title":"PTPRD gene associated with blood pressure response to atenolol and resistant hypertension","article_path":"articles/PMC4788379.md","variant_annotation_id":1446902880,"variant_haplotypes":"rs4742610","gene":"PTPRD","drugs":"trandolapril, verapamil","pmid":26425837,"phenotype_category":"Efficacy","significance":"yes","notes":"This was associated with resistant hypertension in whites and Hispanics in the international verapamil SR trandolapril study (meta-analysis P=3.2\u00d710-5).","sentence":"Allele T is associated with resistance to trandolapril and verapamil in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6523194","article_title":"Azathioprine Biotransformation in Young Patients with Inflammatory Bowel Disease: Contribution of Glutathione-S Transferase M1 and A1 Variants","article_path":"articles/PMC6523194.md","variant_annotation_id":1451237363,"variant_haplotypes":"rs1142345","gene":"TPMT","drugs":"azathioprine","pmid":30987408,"phenotype_category":"Dosage","significance":"yes","notes":"alleles complemented. No CC (*3C/(3C) homozygotes were reported.","sentence":"Genotype CT is associated with decreased dose of azathioprine in children with Colitis, Ulcerative or Crohn Disease as compared to genotype TT.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Ulcerative Colitis, Other:Crohn Disease","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2194758","article_title":"Ethnic Stratification of the Association of RGS4 Variants with Antipsychotic Treatment Response in Schizophrenia","article_path":"articles/PMC2194758.md","variant_annotation_id":608431246,"variant_haplotypes":"rs2842030","gene":"RGS4","drugs":"olanzapine, perphenazine","pmid":17588543,"phenotype_category":"Efficacy","significance":"not stated","notes":"compared to quetiapine, risperidone or ziprasidone based on Positive and Negative Syndrome Scale (PANSS) positive scores","sentence":"Genotype TT is associated with increased response to olanzapine and perphenazine in people with Schizophrenia as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC4265416","article_title":"Haplotypes of P2RX7 gene polymorphisms are associated with both cold pain sensitivity and analgesic effect of fentanyl","article_path":"articles/PMC4265416.md","variant_annotation_id":1450821470,"variant_haplotypes":"rs208293","gene":"P2RX7","drugs":"fentanyl","pmid":25472448,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and 24-h postoperative fentanyl use or perioperative fentanyl use.","sentence":"Allele A is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5898372","article_title":"Genotypic and Phenotypic Factors Influencing Drug Response in Mexican Patients With Type 2 Diabetes Mellitus","article_path":"articles/PMC5898372.md","variant_annotation_id":1449310654,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"sulfonamides, urea derivatives","pmid":29681852,"phenotype_category":"Efficacy","significance":"no","notes":"This is the defining SNP of CYP2C9*2","sentence":"Allele T is not associated with response to sulfonamides, urea derivatives in people with Diabetes Mellitus as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5427244","article_title":"Donor CYP3A5 genotype influences tacrolimus disposition on the first day after paediatric liver transplantation","article_path":"articles/PMC5427244.md","variant_annotation_id":1448568158,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":28044353,"phenotype_category":"Metabolism/PK","significance":"no","notes":"DONOR liver genotypes. No significant difference in tacrolimus trough concentration or dose-adjusted trough concentration was seen between the genotypes.","sentence":"CYP3A4 *1/*22 + *22/*22 are not associated with metabolism of tacrolimus in children with liver transplantation as compared to CYP3A4 *1/*1.","alleles":"*1/*22 + *22/*22","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5220536","article_title":"Polymorphisms of the KCNQ1 gene are associated with the therapeutic responses of sulfonylureas in Chinese patients with type 2 diabetes","article_path":"articles/PMC5220536.md","variant_annotation_id":1452876240,"variant_haplotypes":"rs2237892","gene":"KCNQ1","drugs":"gliclazide","pmid":27694910,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Regarding rs2237892, there were more responders among the rare TT allele homozygotes TT; 57.1% of the TT homozygotes responded, compared with only 15.9% of the CC homozygotes. The heterozygote CT group exhibited an intermediate response rate. The odds ratio for the T allele with respect to treatment success was 2.533 (95% CI: 1.283\u20134.999, P=0.007) compared with the rs2237892 C allele. \"","sentence":"Allele T is associated with increased clinical benefit to gliclazide in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11160041","article_title":"CBR1 and CBR3 pharmacogenetics and their influence on doxorubicin disposition in Asian breast cancer patients","article_path":"articles/PMC11160041.md","variant_annotation_id":1448105610,"variant_haplotypes":"rs9024","gene":"CBR1","drugs":"doxorubicin","pmid":19016765,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype GG is associated with increased clearance of doxorubicin in people with Breast Neoplasms as compared to genotype AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446895979,"variant_haplotypes":"rs11989215","gene":"ANGPT2","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC10675244","article_title":"A Physiologically Based Pharmacokinetic Approach to Recommend an Individual Dose of Tacrolimus in Adult Heart Transplant Recipients","article_path":"articles/PMC10675244.md","variant_annotation_id":1452309700,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"tacrolimus","pmid":38004558,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"CYP3A4*18B genotypes were also significant covariates of CL/F. For CYP3A4*18B, there was a significant difference in CL/F of different genotypes: 25.4 \u00b1 12.0 L/h for CYP3A4*18B*18B/*1*18B, and 16.3 \u00b1 10.5 L/h for CYP3A4*1*1 (p < 0.001).\" \"CYP3A4*18B (rs2242480)\"","sentence":"Genotypes CT + TT is associated with increased clearance of tacrolimus in people with heart transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC8724172","article_title":"The effect of potent CYP2D6 inhibition on the pharmacokinetics and safety of deutetrabenazine in healthy volunteers","article_path":"articles/PMC8724172.md","variant_annotation_id":1451505980,"variant_haplotypes":"CYP2D6 intermediate metabolizer genotype","gene":"CYP2D6","drugs":"alpha-dihydrodeutetrabenazine, beta-dihydrodeutetrabenazine","pmid":34491372,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Maximum exposure to \u03b1-HTBZ and \u03b2-HTBZ is slightly higher in IM compared to EM in the absence of paroxetine but comparable between IM and EM in the presence of the inhibitor.","sentence":"CYP2D6 intermediate metabolizer is associated with increased exposure to alpha-dihydrodeutetrabenazine and beta-dihydrodeutetrabenazine in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":"and","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450814990,"variant_haplotypes":"rs6688363","gene":"ATP1A2","drugs":"olanzapine","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of T alleles present in a patient was positively associated with CGI-S score.","sentence":"Allele T is associated with decreased response to olanzapine in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4525256","article_title":"Leveraging an Electronic Health Record-Linked Biorepository to Generate a Metformin Pharmacogenomics Hypothesis","article_path":"articles/PMC4525256.md","variant_annotation_id":1446903440,"variant_haplotypes":"rs2076322","gene":null,"drugs":"metformin","pmid":26306225,"phenotype_category":"Efficacy","significance":"no","notes":"EHR-linked and EHR-based phenotyping methods were used to study common variants within FMO5. Efficacy was assessed by A1c levels extracted from EHR records.","sentence":"Allele G is not associated with response to metformin in people with Diabetes Mellitus as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC11552228","article_title":"CYP3A4*1B and CYP3A5*3 SNPs significantly impact the response of Egyptian candidates to high-intensity statin therapy to atorvastatin","article_path":"articles/PMC11552228.md","variant_annotation_id":1452706240,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"atorvastatin","pmid":39523378,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by decreased triglycerides. \"The percentage reduction in the serum TG concentration was lower in the CYP3A4*1B (C/C) (wild genotype) group than in the C/T and T/T genotype groups (P value\u2009<\u20090.05). The percentage reduction in serum TG was 4.84\u2009\u00b1\u200924.32 in the CYP3A4*1B (C/C) genotype group (Table 5). Among the CYP3A4*1B (C/T) and (T/T) genotype carriers, the serum TG percentage reductions were 25.51\u2009\u00b1\u20098.35% and 26.70\u2009\u00b1\u200910.17%, respectively (Table 5).\"","sentence":"Genotype CC is associated with decreased response to atorvastatin in people with Cardiovascular Disease or Hyperlipidemias as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cardiovascular Disease, Other:Hyperlipidemias","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3246196","article_title":"Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition","article_path":"articles/PMC3246196.md","variant_annotation_id":1184747071,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*20, SLCO1B1*37","gene":"SLCO1B1","drugs":"methotrexate","pmid":22147369,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note *1B was mentioned in the article. SLCO1B1*1B was consolidated into SLCO1B1*37 by PharmVar in 2021.","sentence":"SLCO1B1 *20 is associated with increased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to SLCO1B1 *1 + *37.","alleles":"*20","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *37","comparison_metabolizer_types":null} +{"pmcid":"PMC8673616","article_title":"Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences","article_path":"articles/PMC8673616.md","variant_annotation_id":1451679146,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"methadone","pmid":34910759,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this SNP and odds of continued opioid use or risk of relapse in patients undergoing MMT. Significance threshold was set to p<0.017.","sentence":"Allele G is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4594719","article_title":"High metabolic N-oxidation of voriconazole in a patient with refractory aspergillosis and CYP2C19*17/*17 genotype","article_path":"articles/PMC4594719.md","variant_annotation_id":1444930545,"variant_haplotypes":"CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":26138512,"phenotype_category":"Efficacy","significance":"not stated","notes":"Case report. A 26-year-old woman with an acute mixed lymphoid and myeloid leukemia met criteria for probable pulmonary aspergillosis and was treated with voriconazole. The patient showed low serum concentrations of the drug, which remained low even after dose increase, and a lack of response. She was found to have the CYP2C19 *17/*17 genotype. Once she was switched to caspofungin, the fungal infection was controlled. The authors note that co-medications and disease-induced modulation of the CYP2C19 and CYP3A4 activities cannot be excluded as explanations for the low concentrations of voriconazole.","sentence":"CYP2C19 *17/*17 is associated with decreased response to voriconazole in women with Mycoses.","alleles":"*17/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Mycoses","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715442,"variant_haplotypes":"rs7439366","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Dosage","significance":"no","notes":"There was no significant difference in 24 hour fentanyl use between the genotype groups.","sentence":"Genotype TT is not associated with dose of fentanyl in people with Pain, Postoperative as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165203,"variant_haplotypes":"rs2252281","gene":"SLC47A1","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with exposure to metformin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729358,"variant_haplotypes":"rs4646453","gene":"CYP3A5","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes AA + AC is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4814312","article_title":"Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study","article_path":"articles/PMC4814312.md","variant_annotation_id":1447813659,"variant_haplotypes":"rs75222709","gene":null,"drugs":"lithium","pmid":26806518,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients had been taking lithium for at least 6 mo. Response to lithium was assayed using the Alda scale, which quantifies symptom improvement over time. The scale is from 0-10, with 10 being the highest response score and 0 being the lowest. The authors evaluated response using a dichotomous (=7 is \"responder\" and < 7 is \"non-responder\") and a continuous phenotype (0-10). This SNP was found to be associated with improved response to lithium using the continuous phenotype but not the dichotomous phenotype measure. The association was confirmed in an independent prospective study of 73 patients. This is one of four SNPs in LD that show association (rs79663003, rs78015114, rs74795342, rs75222709).","sentence":"Allele T is associated with increased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5875925","article_title":"Pharmacogenetics of Asthma Controller Treatment","article_path":"articles/PMC5875925.md","variant_annotation_id":1183703305,"variant_haplotypes":"rs1876831","gene":"CRHR1","drugs":"fluticasone propionate","pmid":22370858,"phenotype_category":"Efficacy","significance":"yes","notes":"The minor allele is reported to be associated with increased response. dbSNP lists T as the minor allele in CEU.","sentence":"Allele T is associated with increased response to fluticasone propionate in people with Asthma as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5600689","article_title":"Impact of Single Nucleotide Polymorphisms on Plasma Concentrations of Efavirenz and Lopinavir/ritonavir in Chinese Children Infected with the Human Immunodeficiency Virus","article_path":"articles/PMC5600689.md","variant_annotation_id":1448821800,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"lopinavir","pmid":28718515,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes GT + TT are not associated with concentrations of lopinavir in children with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183634301,"variant_haplotypes":"rs11763492","gene":"CNTNAP2","drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"Significance was not attained. Observations: 2.89 mm Hg increased reduction of systolic blood pressure per A allele in PEAR + GERA, 1.14 mm Hg decreased reduction of systolic blood pressure per A allele in NORDIL, and 1.59 mm Hg increased reduction of systolic blood pressure per A allele in PEAR + GERA + NORDIL.","sentence":"Allele A is not associated with response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5354739","article_title":"Pharmacogenetic analysis of high-dose methotrexate treatment in children with osteosarcoma","article_path":"articles/PMC5354739.md","variant_annotation_id":1449188647,"variant_haplotypes":"rs9282564","gene":"ABCB1","drugs":"methotrexate","pmid":27566582,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Concentrations refers to area under the concentration time curve (0-48hrs)","sentence":"Allele C is associated with increased concentrations of methotrexate in children with as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5323433","article_title":"Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer","article_path":"articles/PMC5323433.md","variant_annotation_id":1448493593,"variant_haplotypes":"rs17134592","gene":"AKR1C4","drugs":"exemestane","pmid":27549341,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in exemestane concentrations were seen between the three genotypes.","sentence":"Genotypes CG + GG are not associated with concentrations of exemestane in women with Breast Neoplasms as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5726942","article_title":"Race/ethnicity difference in the pharmacogenetics of bilirubin-related atazanavir discontinuation","article_path":"articles/PMC5726942.md","variant_annotation_id":1449154881,"variant_haplotypes":"rs887829","gene":"UGT1A1","drugs":"atazanavir","pmid":29117017,"phenotype_category":"Toxicity","significance":"yes","notes":"Association with risk to for bilirubin-related atazanavir discontinuation.","sentence":"Genotype TT is associated with increased discontinuation of atazanavir as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5795999","article_title":"Relationship between Lipid Phenotypes, Overweight, Lipid Lowering Drug Response and KIF6 and HMG-CoA Genotypes in a Subset of the Brisighella Heart Study Population","article_path":"articles/PMC5795999.md","variant_annotation_id":1452362384,"variant_haplotypes":"rs3846662","gene":"HMGCR","drugs":"hmg coa reductase inhibitors","pmid":29295555,"phenotype_category":"Efficacy","significance":"no","notes":"With regard to lipid-lowering therapy with statins, the authors did not find any association between HMG-CoA or KIF6 genotypes and achievement of <130 mg/dL LDL-C level.","sentence":"Genotypes GT + TT are not associated with response to hmg coa reductase inhibitors as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4390701","article_title":"Meta-Analysis of the SLCO1B1 c.521T>C Variant Reveals Slight Influence on the Lipid-Lowering Efficacy of Statins","article_path":"articles/PMC4390701.md","variant_annotation_id":1451354800,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"simvastatin","pmid":25932441,"phenotype_category":"Efficacy","significance":"not stated","notes":"The lipid-lowering efficacy of simvastatin did show an improvement in patients with the SLCO1B1 c.521T>C wild genotype relative to patients with the variant genotype, with an SMD of -0.26 (95% CI: -0.47- -0.05).","sentence":"Genotypes CC + CT are associated with decreased response to simvastatin as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165143,"variant_haplotypes":"rs72552763","gene":"SLC22A1","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele del is not associated with exposure to metformin as compared to allele GAT.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GAT","comparison_metabolizer_types":null} +{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934455,"variant_haplotypes":"rs372966991","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the T allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Arg112His in the paper.","sentence":"Allele T is associated with increased response to migalastat in people with Fabry Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7455128","article_title":"Pharmacogenomics of aromatase inhibitors in postmenopausal breast cancer and additional mechanisms of anastrozole action","article_path":"articles/PMC7455128.md","variant_annotation_id":1451356980,"variant_haplotypes":"rs6981827","gene":"CSMD1","drugs":"anastrozole","pmid":32701512,"phenotype_category":"Efficacy","significance":"yes","notes":"Response was measured by the decrease in estrogen levels over the course of treatment.","sentence":"Allele T is associated with decreased response to anastrozole in women with Breast Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2865873","article_title":"Warfarin pharmacogenetics: a single VKORC1 polymorphism is predictive of dose across 3 racial groups","article_path":"articles/PMC2865873.md","variant_annotation_id":637879816,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":20203262,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3055694","article_title":"Genome-Wide Pharmacogenomic Study of Neurocognition As an Indicator of Antipsychotic Treatment Response in Schizophrenia","article_path":"articles/PMC3055694.md","variant_annotation_id":981502104,"variant_haplotypes":"rs286913","gene":"EHF","drugs":"ziprasidone","pmid":21107309,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"Adjacent SNPs also showed evidence for association. The report is that the minor allele is associated with greater response, and dbSNP shows A to be the minor allele in all populations reported upon.","sentence":"Allele A is associated with increased response to ziprasidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3048137","article_title":"Association of IL28B gene variations with mathematical modeling of viral kinetics in chronic hepatitis C patients with IFN plus ribavirin therapy","article_path":"articles/PMC3048137.md","variant_annotation_id":981481560,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2a, ribavirin","pmid":21321200,"phenotype_category":"Efficacy","significance":"yes","notes":"no GG patients were seen. RVR seen in 83.1% TT vs. 57.1% GT.","sentence":"Genotype TT is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to genotype GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT","comparison_metabolizer_types":null} +{"pmcid":"PMC4462564","article_title":"The association of rs1051730 genotype on adherence to and consumption of prescribed nicotine replacement therapy dose during a smoking cessation attempt","article_path":"articles/PMC4462564.md","variant_annotation_id":1450821968,"variant_haplotypes":"rs1051730","gene":"CHRNA3","drugs":"nicotine","pmid":25891233,"phenotype_category":"Dosage","significance":"yes","notes":"Each copy of the minor A allele was associated with a 2.9% decrease in nicotine replacement therapy (NRT) adherence and a 1mg decrease in NRT consumption at 7 days after quit attempt. The association between the A allele and decreased NRT adherence lost significance following adjustment for number of cigarettes smoked. No association between this allele and NRT adherence or consumption was seen at 28 days post quit attempt.","sentence":"Allele A is associated with decreased dose of nicotine in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930674,"variant_haplotypes":"rs615470","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele T is not associated with exposure to nicotine in men as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680853,"variant_haplotypes":"rs7668258","gene":"UGT2B7","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype CC is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4195667","article_title":"Personalized Tacrolimus Dose Requirement by CYP3A5 but Not ABCB1 or ACE Genotyping in Both Recipient and Donor after Pediatric Liver Transplantation","article_path":"articles/PMC4195667.md","variant_annotation_id":1185012151,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":25310192,"phenotype_category":"Dosage","significance":"yes","notes":"All liver recipients were given tacrolimus 2-3 days post liver transplantation. Weight adjusted dose and concentration to dose ratio (C/D) were the primary outcomes. Dose and C/D were calculated based on measurements taken on day 3, 7 and 14 post-transplantation as well as the the 1st, 3rd, 6th and 12th month post-transplantation. Genotype CC is classified as a CYP3A5 non-expresser (*3/*3) and genotypes CT (*1/*3) + TT (*1/*1) are classified as CYP3A5 expressers. The mean tacrolimus C/D of non-expressor donor/ non-expresser recipient pairs was also higher as compared to all other donor/recipient combinations.","sentence":"Genotype CC is associated with increased concentrations of tacrolimus in children with liver transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC10537526","article_title":"Evaluation of Pupillometry for CYP2D6 Phenotyping in Children Treated with Tramadol","article_path":"articles/PMC10537526.md","variant_annotation_id":1452263683,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"o-desmethyltramadol","pmid":37765034,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"Regarding secondary outcomes, this study showed a good relationship between the DOR/DEM MR and the M1/tramadol MR. Both MRs showed a satisfactory distribution for each phenotype predicted as a function of genotype\"","sentence":"CYP2D6 poor metabolizer is associated with decreased concentrations of o-desmethyltramadol in children with Pain as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4168390","article_title":"Characterizing variability in warfarin dose requirements in children using modelling and simulation","article_path":"articles/PMC4168390.md","variant_annotation_id":1184654401,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":24330000,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"A model was created to predict maintenance doses for children of different ages, all with a baseline INR of 1 and a target INR of 2.5, based on longitudinal data from children taking warfarin. Due to the nature of the model, the quantitative CYP2C9 allele effects on clearance were assumed to be the same as for adults - n=20 children had the *1/*2 genotype in the data cohort. CYP2C9 genotype, VKORC1 genotype, bodyweight, age, baseline INR, target INR and time since initiation of therapy were all found to be significant causes of warfarin dose variability in children. This association is based on a table presenting results from the model predicting warfarin dose for children of 2, 8 and 14 years old with different rs9923231 genotype and CYP2C9 genotype presented in the paper. CYP2C9*2 was defined as rs1799853 and *3 as rs1057910.","sentence":"CYP2C9 *1/*2 is associated with decreased dose of warfarin in children with Heart Diseases as compared to CYP2C9 *1/*1.","alleles":"*1/*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6800829","article_title":"Impact of SLCO1B3 Polymorphisms on Clinical Outcomes in Lung Allograft Recipients Receiving Mycophenolic Acid","article_path":"articles/PMC6800829.md","variant_annotation_id":1451101320,"variant_haplotypes":"rs1042597","gene":"UGT1A8","drugs":"azathioprine, mycophenolic acid","pmid":30992538,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and survival post-transplantation or development of acute cellular rejection, lymphocytic bronchiolitis or chronic lung allograft dysfunction (CLAD).","sentence":"Allele G is not associated with response to azathioprine or mycophenolic acid in people with lung transplantation as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4916778","article_title":"Impact of ATM and SLC22A1 Polymorphisms on Therapeutic Response to Metformin in Iranian Diabetic Patients","article_path":"articles/PMC4916778.md","variant_annotation_id":1448123019,"variant_haplotypes":"rs628031","gene":"SLC22A1","drugs":"metformin","pmid":27386433,"phenotype_category":"Efficacy","significance":"no","notes":"in Iranian patients. Response to metformin was defined by HbA1c and fasting blood sugar (FBS) values.","sentence":"Allele A is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678481,"variant_haplotypes":"rs3812718","gene":"SCN1A","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Efficacy","significance":"no","notes":"The authors evaluated the distribution of genotypes between individuals who developed resistance to carbamazepine (CBZ) and those who did not. There were no significant differences in genotype distributions between the two groups. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype CC is not associated with resistance to carbamazepine in people with Epilepsy as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC11393095","article_title":"Impact of CYP2D6*2, CYP2D6*35, rs5758550, and related haplotypes on risperidone clearance in vivo","article_path":"articles/PMC11393095.md","variant_annotation_id":1452519083,"variant_haplotypes":"rs5758550","gene":"WBP2NL","drugs":"risperidone","pmid":38963454,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Each evaluated CYP2D6 allele was associated with significantly lower risperidone clearance than the reference; normal function allele CYP2D6*1 (p<0.001). Further, rs5758550 differentiated the effect of CYP2D6*2 (p=0.005). \"","sentence":"Allele A is associated with decreased clearance of risperidone as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3611944","article_title":"Pharmacogenetic association with early response to intravitreal ranibizumab for age-related macular degeneration in a Korean population","article_path":"articles/PMC3611944.md","variant_annotation_id":1183682045,"variant_haplotypes":"rs10490924","gene":"ARMS2","drugs":"ranibizumab","pmid":23559864,"phenotype_category":"Efficacy","significance":"no","notes":"Age-related macular degeneration. No significant differences in best-corrected visual acuity (BCVA) changes or central subfield macular thickness (CSMT) changes were seen between baseline and 3 or 6 months of treatment between any of the genotypes.","sentence":"Allele G is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5509475","article_title":"ABCB1 Genotype is Associated with Fentanyl Requirements in Critically Ill Children","article_path":"articles/PMC5509475.md","variant_annotation_id":1450826585,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"fentanyl","pmid":28388599,"phenotype_category":"Dosage","significance":"yes","notes":"Pediatric patients with the AA genotype received less fentanyl in an infusion than patients with the AG or GG genotypes.","sentence":"Genotype AA is associated with decreased dose of fentanyl in children as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC8940650","article_title":"Effect of CYP3A5 and CYP3A4 Genetic Variants on Fentanyl Pharmacokinetics in a Pediatric Population","article_path":"articles/PMC8940650.md","variant_annotation_id":1451678271,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"fentanyl","pmid":34877660,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The publication reports the finding for CYP3A4*1G. PharmVar re-assigned CYP3A4*1G to CYP3A4*36. Previously, this annotation used CYP3A4*36 which has been retired by PharmVar. All references to *36 have been replaced by rs2242480 alleles.","sentence":"Allele T is not associated with clearance of fentanyl in children as compared to allele C (assigned as normal metabolizer phenotype) .","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4231027","article_title":"Predictive Value of Interferon-Lambda Gene Polymorphisms for Treatment Response in Chronic Hepatitis C","article_path":"articles/PMC4231027.md","variant_annotation_id":1444665865,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":25393304,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients were analyzed by HCV genotype (1,2,3,4). Patients with HCV genotype 1 were divided into groups receiving dual therapy (GT1 (d); peg-intron alpha 2a/b, ribavirn) or triple therapy (GT1 (t); peg-intron alpha 2a/b, ribavirn, telaprevir). Sustained virological response (SVR) is a measure of therapeutic efficacy. Variables that were significant in univariate analysis were included in the multivariate analysis. The authors designated three \"beneficial\" genotypes that were found at higher frequencies in patients who achieved SVR: rs12979860 CC, rs8099917 TT, rs368234815 TT/TT. These genotypes were often found together. 98% of patients with GT1 (d), 100% of patients with GT1(t), 96% of patients with HCV genotype 2, 92% of patients with HCV genotype 3 and 98% of patients with HCV genotype 4 had those genotype combinations.; rs12979860 CC was the only single SNP associated with SVR across all groups. rs12979860 CC was significantly associated with SVR in GT1(d) (p<0.01). 71% of GT1(d) patients had rs12979860 CC and s368234815 TT/TT achieved SVR. In univariate analysis, the CC genotype was a significant predictor of SVR in GT1(d) as well as in patients infected with HCV genotype 2/3 (p=0.03). The CC genotype was found to be significant in a multivariate analysis of predictive factors of SVR within all HCV genotype 1 infected patients. The CC genotype was also associated with higher HCV RNA concentration at baseline in patients with HCV genotype 3 (p<0.001), 2/3 (p<0.001) and GT1(d) (p<0.001) as well as increased ALT levels in HCV genotype 2 (p=0.026) and 2/3 patients (p=0.011).","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4243881","article_title":"Effect of UGT1A1, UGT1A3, DIO1 and DIO2 polymorphisms on L-thyroxine doses required for TSH suppression in patients with differentiated thyroid cancer","article_path":"articles/PMC4243881.md","variant_annotation_id":1184990088,"variant_haplotypes":"rs225014","gene":"DIO2","drugs":"levothyroxine","pmid":24910925,"phenotype_category":"Dosage","significance":"no","notes":"This SNP was not associated with dose in univariate regression.","sentence":"Allele C is not associated with dose of levothyroxine in people with Thyroid Neoplasms as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Thyroid tumor","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6510382","article_title":"VKORC1 and Novel CYP2C9 Variation Predict Warfarin Response in Alaska Native and American Indian People","article_path":"articles/PMC6510382.md","variant_annotation_id":1450370763,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":30821933,"phenotype_category":"Dosage","significance":"yes","notes":"in Alaska Native and American Indian People. This variant -1639G>A is significantly associated with stable warfarin dose, decreasing the dose required to achieve therapeutic INR by 1.7 mg/day per allele (t-test of coefficients, unadjusted P = 1.4e-05, Bonferroni adjusted P = 7.0e-05). This variant is in complete LD with rs9923231.","sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6923423","article_title":"Influence of OATP1B1 and BCRP polymorphisms on the pharmacokinetics and pharmacodynamics of rosuvastatin in elderly and young Korean subjects","article_path":"articles/PMC6923423.md","variant_annotation_id":1451164700,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"rosuvastatin","pmid":31857620,"phenotype_category":"Efficacy","significance":"no","notes":"SLCO1B1 521T\u2009>\u2009C IS partially associated with a higher AUC of rosuvastatin in young subjects and a less pronounced increasing trend in elderly subjects (p > 0.05 for both).","sentence":"Genotypes CC + CT are associated with response to rosuvastatin as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2599947","article_title":"ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence","article_path":"articles/PMC2599947.md","variant_annotation_id":1450811625,"variant_haplotypes":"rs3789243","gene":"ABCB1","drugs":"methadone","pmid":18424454,"phenotype_category":"Dosage","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. Alleles were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone.","sentence":"Allele G is not associated with dose of methadone in people with Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4356257","article_title":"Translesion Polymerase Genes Polymorphisms and Haplotypes Influence Survival of Osteosarcoma Patients","article_path":"articles/PMC4356257.md","variant_annotation_id":1447675754,"variant_haplotypes":"rs3204953","gene":"REV3L","drugs":"cisplatin","pmid":25748439,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP is not associated with event-free survival (p = 0.998) or overall survival (p = 0.265), as determined by recurrence or death, with mean follow-up time of 143 months.","sentence":"Genotypes CT + TT are not associated with increased response to cisplatin in people with Osteosarcoma as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438426,"variant_haplotypes":"rs1800629","gene":"LST1, LTA, TNF","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 4.5E-3.","sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10038974","article_title":"Prediction of CYP2D6 poor metabolizers by measurements of solanidine and metabolites\u2014a study in 839 patients with known CYP2D6 genotype","article_path":"articles/PMC10038974.md","variant_annotation_id":1452024060,"variant_haplotypes":"CYP2D6 poor metabolizer genotype","gene":"CYP2D6","drugs":"solanidine","pmid":36806969,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study \"aimed to compare the predictive value of solanidine and metabolite-to-solanidine ratios of seven solanidine metabolites as biomarkers for CYP2D6 in a large population of psychiatric patients with known CYP2D6 genotype.\"","sentence":"CYP2D6 poor metabolizer is associated with decreased metabolism of solanidine in people with Depression.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550265,"variant_haplotypes":"rs2237628","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele C is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC11481807","article_title":"Serotonin transporter 5-HTTLPR polymorphism and escitalopram treatment response in patients with major depressive disorder","article_path":"articles/PMC11481807.md","variant_annotation_id":1452647500,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"escitalopram","pmid":39407134,"phenotype_category":"Efficacy","significance":"yes","notes":"\"For each S-allele of the 5-HTTLPR variant, a significantly decreased response to escitalopram by 58% was observed in the log-additive model (OR 0.42, 95% CI 0.20\u20130.85, p\u2009=\u20090.015). The association between the 5-HTTLPR genotype and response to escitalopram treatment was not affected by adjustment for the presence of different metabolizers status of CYP2C19 and CYP2D6 (Model 2), the association between the 5-HTTLPR genotype and response to escitalopram treatment remained significant.\"","sentence":"SLC6A4 HTTLPR short form (S allele) is associated with decreased response to escitalopram in people with Major Depressive Disorder as compared to SLC6A4 HTTLPR long form (L allele).","alleles":"HTTLPR short form (S allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR long form (L allele)","comparison_metabolizer_types":null} +{"pmcid":"PMC11508189","article_title":"CYP3A4*1B but Not CYP3A5*3 as Determinant of Long-Term Tacrolimus Dose Requirements in Spanish Solid Organ Transplant Patients","article_path":"articles/PMC11508189.md","variant_annotation_id":1452654220,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"tacrolimus","pmid":39457109,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Significant differences in weight-adjusted dose (p = 0.007) and a trend in Co/dose (p = 0.056) were found between CYP3A4*1B allele carriers and non-carriers. Figure 2 and Figure 3 show plots of weight-adjusted dose and Co/dose for the two groups of CYP3A4 genotypes (rs2740574).\" Transplants included 14 hepatic, 9 renal, 2 cardiac and one pulmonary (from table 1). Alleles complemented.","sentence":"Genotype CT is associated with increased dose of tacrolimus in people with Transplantation as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4854407","article_title":"A Common Susceptibility Gene for Type 2 Diabetes Is Associated with Drug Response to a DPP-4 Inhibitor: Pharmacogenomic Cohort in Okinawa Japan","article_path":"articles/PMC4854407.md","variant_annotation_id":1447987173,"variant_haplotypes":"rs7754840","gene":"CDKAL1","drugs":"Dipeptidyl peptidase 4 (DPP-4) inhibitors","pmid":27139004,"phenotype_category":"Efficacy","significance":"yes","notes":"The SNP was significantly associated with improved response to DPP-4 inhibitors (as assayed by reductions in HbA1c). Most of the patients were on combination anti-diabetic agent (ADA) therapy, but the relationship was only significant for regimens that included DPP-4 (alone or in combination with other ADAs).","sentence":"Allele C is associated with increased response to Dipeptidyl peptidase 4 (DPP-4) inhibitors in people with Diabetes Mellitus as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4413900","article_title":"Pharmacogenomic diversity of tamoxifen metabolites and estrogen receptor genes in Hispanics and non-Hispanic whites with breast cancer","article_path":"articles/PMC4413900.md","variant_annotation_id":1444712484,"variant_haplotypes":"CYP2D6 poor metabolizers","gene":"CYP2D6","drugs":"endoxifen","pmid":25395315,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Article compares endoxifen concentrations in Hispanic vs. White. No statistical analysis done for association of CYP2D6 genotype and endoxifen concentration in individual ethnicites. Endoxifen concentrations are given for AS1, AS 0.5 and AS 0. Pre- (23% Hispanic-30% NHW) and postmenopausal (77% Hispanic-65% NHW) ER-positive Breast cancer patients receiving tamoxifen (20 mg daily) for at least 8 weeks with 50% in both cohorts also receive aromatase inhibitor therapy. DNA extracted from blood. *1, *2, *3, *4, *6 were evaluated for CYP2D6. [pre-menopausal][post-menopausal] [adjuvant] [DNA source: blood]","sentence":"CYP2D6 poor metabolizer is associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501817,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was only significant in Caucasian patients and not in African American patients. It was also associated with higher higher carbamazepine-10-11 epoxide: carbamazepine ratio in women (p=0.002).","sentence":"Genotypes AA + AG are associated with increased clearance of carbamazepine in people with Epilepsy as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3901533","article_title":"A PHARMACOGENETIC STUDY OF ALDEHYDE OXIDASE I IN PATIENTS TREATED WITH XK469","article_path":"articles/PMC3901533.md","variant_annotation_id":1183699633,"variant_haplotypes":"rs10931910","gene":"AOX1","drugs":"XK469","pmid":24300566,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with decreased clearance of XK469 in people with Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4488893","article_title":"Drug Metabolizing Enzyme and Transporter Gene Variation, Nicotine Metabolism, Prospective Abstinence, and Cigarette Consumption","article_path":"articles/PMC4488893.md","variant_annotation_id":1447984301,"variant_haplotypes":"rs1137115","gene":"CYP2A6","drugs":"nicotine","pmid":26132489,"phenotype_category":"Metabolism/PK","significance":"no","notes":"In the discovery stage: Participants derived from 1) the PKTWIN study and 2) the SMOFAM studyBoth were assessed for nicotine metabolite ratio (NMR) which was used as a biomarker of CYP2A6 activity. Nominally significant SNPs in the discovery stage were tested in the validation stage. Validation stage participants were self-identified White participants from 8 clinical trials of smoking cessation therapies conducted in six US sites.","sentence":"Allele C is not associated with metabolism of nicotine as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC11773121","article_title":"Sub\u2010 and supratherapeutic efavirenz plasma concentrations with risk for HIV therapy failure are mainly genetically explained in Ugandan children: The prospective GENEFA cohort study","article_path":"articles/PMC11773121.md","variant_annotation_id":1452639860,"variant_haplotypes":"rs4803419","gene":"CYP2B6","drugs":"efavirenz","pmid":39380207,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Homozygosity for CYP2B615582C>T predicted lower log EFV,\"","sentence":"Genotype TT is associated with increased concentrations of efavirenz in children with HIV infectious disease as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170887,"variant_haplotypes":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2D6","drugs":"N-desmethyltamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of n-desmethyltamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11755583","article_title":"ABCB1 Polymorphism Is Associated with Higher Carbamazepine Clearance in Children","article_path":"articles/PMC11755583.md","variant_annotation_id":1452827241,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"carbamazepine","pmid":39846525,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Alleles complemented. \"Our main finding was that the presence of the ABCB1 1236T-2677T-3435T haplotype was associated with an increased clearance of CBZ in children. \" \"rs2032582 (2677G>T/A)\"","sentence":"Allele A is associated with increased clearance of carbamazepine in children with Epilepsy as compared to allele C.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC48077","article_title":"Inherited amplification of an active gene in the cytochrome P450 CYP2D locus as a cause of ultrarapid metabolism of debrisoquine","article_path":"articles/PMC48077.md","variant_annotation_id":1183629465,"variant_haplotypes":"CYP2D6*2xN","gene":"CYP2D6","drugs":"debrisoquine","pmid":7903454,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Very rapid metabolism of debrisoquine was seen in two families [metabolic ratio (MR) for debrisoquine = 0.01-0.1]. Allele was reported as CYP2D6L with two mutations: one in exon 6 (Arg-296-->Cys) and one in exon 9 (Ser-486-->Thr).","sentence":"CYP2D6 *2xN is associated with increased metabolism of debrisoquine.","alleles":"*2xN","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5425333","article_title":"Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta\u2010Analysis","article_path":"articles/PMC5425333.md","variant_annotation_id":1448631748,"variant_haplotypes":"rs72552763","gene":"SLC22A1","drugs":"metformin","pmid":27859023,"phenotype_category":"Efficacy","significance":"no","notes":"This variant is not associated with metformin glycemic response assessed as HbA1c reduction in patients on metformin monotherapy.","sentence":"Allele del is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele GAT.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GAT","comparison_metabolizer_types":null} +{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271209,"variant_haplotypes":"CYP2C19 poor metabolizers and intermediate metabolizers","gene":"CYP2C19","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"no","notes":"Response defined by changes in the rate of dropout from treatment between metabolizer phenotypes. Study genotyped for the CYP2C19 *1, *2, *3, *4, *5, *6, *7, *8 and *17 and then assigned metabolizer phenotypes.","sentence":"CYP2C19 poor metabolizers and intermediate metabolizers is not associated with response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to CYP2C19 normal metabolizer and ultra-metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and ultrarapid metabolizer"} +{"pmcid":"PMC4011617","article_title":"PPAR-\u03b32 and PTPRD gene polymorphisms influence type 2 diabetes patients' response to pioglitazone in China","article_path":"articles/PMC4011617.md","variant_annotation_id":1450814898,"variant_haplotypes":"rs1801282","gene":"PPARG","drugs":"pioglitazone","pmid":23147557,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CG genotype showed significantly greater decreases in fasting plasma glucose levels and triglyceride levels after 3 months of pioglitazone treatment. However, changes in other biochemical measures were not significant.","sentence":"Genotype CG is associated with increased response to pioglitazone in people with Diabetes Mellitus, Type 2 as compared to genotype CC.","alleles":"CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC11608742","article_title":"Effects of genetic variants of organic cation transporters on metformin response in newly diagnosed patients with type 2 diabetes","article_path":"articles/PMC11608742.md","variant_annotation_id":1452725010,"variant_haplotypes":"rs11212617","gene":"ATM","drugs":"metformin","pmid":39612420,"phenotype_category":"Efficacy","significance":"no","notes":"\"Other SNPs (rs4621031, rs34399035, rs1800058, and rs11212617) had no significant impact on metformin response. \"","sentence":"Allele A is not associated with decreased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3180021","article_title":"IL28B polymorphisms associated with therapy response in Chilean chronic hepatitis C patients","article_path":"articles/PMC3180021.md","variant_annotation_id":1444705804,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, ribavirin","pmid":21987611,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715511,"variant_haplotypes":"rs4587017","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Efficacy","significance":"no","notes":"There was a significant difference in PPLpost-PPLpre between the genotype groups.","sentence":"Genotype TT is associated with decreased response to fentanyl in people with Pain, Postoperative as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680053,"variant_haplotypes":"rs77977790","gene":"PAPPA2","drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"yes","notes":"The allele associated with increased response and low frequency is not explicitly stated. Response is increased for carriers of the rare, minor allele. This association was significant in the initial GWAS (in GALA II), but it was not significant in an attempted replication by imputation in silico in GALA I. GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation.","sentence":"Genotype CT is associated with increased response to salbutamol in children with Asthma as compared to genotype TT.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5945500","article_title":"Correlation of MDR1 gene polymorphism with propofol combined with remifentanil anesthesia in pediatric tonsillectomy","article_path":"articles/PMC5945500.md","variant_annotation_id":1449311625,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"propofol, remifentanil","pmid":29755652,"phenotype_category":"Efficacy","significance":"no","notes":"Referred to as 2677 G>T/A Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to propofol and remifentanil in children as compared to allele A.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995772,"variant_haplotypes":"rs2515462","gene":"ANGPT2","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032649,"variant_haplotypes":"rs558025","gene":"OPRM1","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was not statistically significant after permutation analysis based on 40,000 replicates, and not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction). Note; this SNP is in LD with rs660756 (r^2>0.7).","sentence":"Genotypes AG + GG are associated with decreased dose of methadone in people with Heroin Dependence as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC7649675","article_title":"Pharmacogenetics of TNF inhibitor\u00a0response in rheumatoid arthritis utilizing the two-component disease activity score","article_path":"articles/PMC7649675.md","variant_annotation_id":1451293840,"variant_haplotypes":"rs1350948","gene":null,"drugs":"adalimumab, certolizumab pegol, etanercept, infliximab, Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":33124499,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by change in 2C-DAS28. Table 2 shows change was a negative value for this variant suggesting decreased 2C-DAS28 and increased response, it was not attributed to a particular allele at this rs number location so assumed minor allele based on dbSNP frequencies.","sentence":"Allele A is associated with increased response to adalimumab, certolizumab pegol, etanercept, infliximab or Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3786328","article_title":"Artemisinin-resistant Plasmodium falciparum in Pursat province, western Cambodia: a parasite clearance rate study","article_path":"articles/PMC3786328.md","variant_annotation_id":1183705675,"variant_haplotypes":"rs1050828","gene":"G6PD","drugs":"artemisinin and derivatives","pmid":22940027,"phenotype_category":"Efficacy","significance":"no","notes":"G6PD deficient (those with genotype TT, TC, or T in males) compared to non-deficient (genotype CC or C in males). No difference in efficacy of parasite clearance was observed. Patients were treated with artemether-lumefantrine or artesunate and mefloquine.","sentence":"Allele T is not associated with response to artemisinin and derivatives in people with Malaria, Falciparum as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Malaria, Falciparum","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4240933","article_title":"Effect of NOS3 gene polymorphism on response to Tricyclic antidepressants in migraine attacks","article_path":"articles/PMC4240933.md","variant_annotation_id":1452571103,"variant_haplotypes":"rs1799983","gene":"NOS3","drugs":"nortriptyline","pmid":25422735,"phenotype_category":"Efficacy","significance":"yes","notes":"SNP referred to as Glu298Asp in the paper and mapped to rs1799983 by PharmGKB. The TT genotype was significantly associated with a reduced frequency of migraine attacks in patients using tricyclic antidepressants","sentence":"Genotype TT is associated with increased response to nortriptyline in people with Migraine without Aura or Migraine with Aura as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura, Other:Migraine with Aura","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC4947669","article_title":"A novel treatment of cystic fibrosis acting on-target: cysteamine plus epigallocatechin gallate for the autophagy-dependent rescue of class II-mutated CFTR","article_path":"articles/PMC4947669.md","variant_annotation_id":1447964109,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"cysteamine","pmid":27035618,"phenotype_category":"Efficacy","significance":"yes","notes":"Improvement measured as change in CFTR function by changes in chloride concentration. Patients with class II mutations benefit from cysteamine, whereas patients carrying 2 class I mutations do not. Schedule of treatment was cysteamine alone for 8 weeks, followed by cysteamine plus EGCG for 4 weeks, then EGCG alone for 8 weeks. Subjects continued other therapy throughout.","sentence":"Genotypes CTT/del + del/del are associated with increased response to cysteamine in people with Cystic Fibrosis as compared to genotype CTT/CTT.","alleles":"CTT/del + del/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CTT/CTT","comparison_metabolizer_types":null} +{"pmcid":"PMC6523194","article_title":"Azathioprine Biotransformation in Young Patients with Inflammatory Bowel Disease: Contribution of Glutathione-S Transferase M1 and A1 Variants","article_path":"articles/PMC6523194.md","variant_annotation_id":1451237374,"variant_haplotypes":"GSTM1 non-null, GSTM1 null","gene":"GSTM1","drugs":"azathioprine","pmid":30987408,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"GSTM1 null is associated with decreased clinical benefit to azathioprine in children with Colitis, Ulcerative or Crohn Disease as compared to GSTM1 non-null.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Ulcerative Colitis, Other:Crohn Disease","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"non-null","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755972,"variant_haplotypes":"rs1869641","gene":"POU2F2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7375060","article_title":"The association of COMT genotype with buproprion treatment response in the treatment of major depressive disorder","article_path":"articles/PMC7375060.md","variant_annotation_id":1451270680,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"bupropion","pmid":32459054,"phenotype_category":"Efficacy","significance":"yes","notes":"Relationship is reported as beneficial for Met/Val or Val/Val compared to Met/Met. The rs number is listed but not which base corresponds to the protein change: Met = rs4680A and Val = rs4680G.","sentence":"Genotypes AG + GG is associated with increased response to bupropion in people with Depressive Disorder, Major as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5700347","article_title":"Observational Study of Associations between Voriconazole Therapeutic Drug Monitoring, Toxicity, and Outcome in Liver Transplant Patients","article_path":"articles/PMC5700347.md","variant_annotation_id":1449146940,"variant_haplotypes":"CYP2C19 ultrarapid metabolizer","gene":"CYP2C19","drugs":"voriconazole","pmid":28923870,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Poor metabolizers = PMs (n=7); Intermediate metabolizers = IMs (n=24); Extensive metabolizers = EMs (n=30); Ultrarapid metabolizers = UMs (n=14). Patients were liver transplant recipients with known or suspected invasive fungal infections.","sentence":"CYP2C19 ultrarapid metabolizer is associated with decreased trough concentration of voriconazole in people with Mycoses as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Mycoses","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376626,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238748,"variant_haplotypes":"rs9713","gene":"PSMD14","drugs":"risperidone","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele A is associated with response to risperidone in people with Schizophrenia.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3376437","article_title":"Influence of SLCO1B3 haplotype-tag SNPs on docetaxel disposition in Chinese nasopharyngeal cancer patients","article_path":"articles/PMC3376437.md","variant_annotation_id":827784609,"variant_haplotypes":"rs7311358","gene":"SLCO1B3","drugs":"docetaxel","pmid":21995462,"phenotype_category":"Other, Metabolism/PK","significance":"yes","notes":"Significance as part of a haplotype with rs4149118, rs11045585 and rs3834935.","sentence":"Allele A is associated with decreased clearance of docetaxel in people with Nasopharyngeal Neoplasms.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Nasopharyngeal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703591,"variant_haplotypes":"rs7387065","gene":"CSMD1","drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in systolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele A is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11509751","article_title":"Bleeding Events Associated with Rivaroxaban Therapy in Naive Patients with Nonvalvular Atrial Fibrillation: A Longitudinal Study from a Genetic Perspective with INR Follow-Up","article_path":"articles/PMC11509751.md","variant_annotation_id":1452654321,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"rivaroxaban","pmid":39459499,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"In our results, the heterozygous and homozygous mutated groups of CYP3A5*3 displayed lower plasma concentrations than the individuals having wild-type genotypes, as shown in Table 1.\"","sentence":"Genotype TT is associated with increased steady-state concentration of rivaroxaban in people with Atrial Fibrillation as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"steady-state concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4270923","article_title":"G Protein-Coupled Receptor Kinase 5 Gene Polymorphisms Are Associated with Postoperative Atrial Fibrillation Following Coronary Artery Bypass Graft Surgery in Patients Receiving Beta-Blockers","article_path":"articles/PMC4270923.md","variant_annotation_id":1451843550,"variant_haplotypes":"rs16947","gene":"CYP2D6","drugs":"Beta Blocking Agents","pmid":25049040,"phenotype_category":"Efficacy","significance":"no","notes":"Single-nucleotide polymorphisms in 10 candidate genes were tested for association with atrial fibrillation after coronary artery bypass grafting despite perioperative beta blocker therapy.","sentence":"Allele A is not associated with response to Beta Blocking Agents in people with Coronary Artery Disease as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6960206","article_title":"Nephrotoxicity in a Patient With Inadequate Pain Control: Potential Role of Pharmacogenetic Testing for Cytochrome P450 2D6 and Apolipoprotein L1","article_path":"articles/PMC6960206.md","variant_annotation_id":1451141840,"variant_haplotypes":"CYP2D6*5, CYP2D6*17","gene":"CYP2D6","drugs":"hydromorphone","pmid":31969823,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Case report of a patient taking hydromorphone for back pain with no detectable hydromorphone concentrations in urine screen.","sentence":"CYP2D6 *5/*17 is associated with decreased concentrations of hydromorphone in women.","alleles":"*5/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715538,"variant_haplotypes":"rs4235108","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Dosage","significance":"no","notes":"There was no significant difference in 24 hour fentanyl use between the genotype groups.","sentence":"Allele A is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557927,"variant_haplotypes":"rs2372536","gene":"ATIC","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":"The allele was initially significant did not remain significant after multiple-testing corrections.","sentence":"Allele G is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5903228","article_title":"The impact of diuretic use and ABCG2 genotype on the predictive performance of a published allopurinol dosing tool","article_path":"articles/PMC5903228.md","variant_annotation_id":1449166180,"variant_haplotypes":"rs1183201","gene":"SLC17A1","drugs":"allopurinol","pmid":29341237,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of allopurinol in people with Gout as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Gout","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757013,"variant_haplotypes":"rs9332127","gene":"CYP2C9","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele G is not associated with dose of warfarin in people with heart valve replacement as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5346878","article_title":"Tacrolimus dose requirements in paediatric renal allograft recipients are characterized by a biphasic course determined by age and bone maturation","article_path":"articles/PMC5346878.md","variant_annotation_id":1449171405,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"tacrolimus","pmid":27966227,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Dose-corrected tacrolimus exposure (AUC0-12/doseBW). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype AA is not associated with concentrations of tacrolimus in children with Kidney Transplantation as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3686783","article_title":"Genetic Variants of Pregnane X Receptor (PXR) and CYP2B6 Affect the Induction of Bupropion Hydroxylation by Sodium Ferulate","article_path":"articles/PMC3686783.md","variant_annotation_id":1450820343,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"bupropion","pmid":23840296,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Subjects carrying the CYP2B6*6 allele had significantly increased AUCs if bupropion compared to *1/*1 subjects.","sentence":"CYP2B6 *1/*6 + *6/*6 are associated with decreased metabolism of bupropion in healthy individuals as compared to CYP2B6 *1/*1.","alleles":"*1/*6 + *6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5711795","article_title":"Pharmacogenetic study of seven polymorphisms in three nicotinic acetylcholine receptor subunits in smoking-cessation therapies","article_path":"articles/PMC5711795.md","variant_annotation_id":1449155997,"variant_haplotypes":"rs55853698","gene":"CHRNA5","drugs":"bupropion, nicotine, varenicline","pmid":29196725,"phenotype_category":"Efficacy","significance":"no","notes":"Authors looked at the effect of variants on response to the smoking cessation therapies varenicline, bupropion and nicotine replacement therapy.","sentence":"Allele G is not associated with response to bupropion, nicotine and varenicline in people with Tobacco Use Disorder as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6262886","article_title":"Targeted Sequencing Identifies Missense variant in the BEST3 gene associated with Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC6262886.md","variant_annotation_id":1449733611,"variant_haplotypes":"rs61747221","gene":"BEST3","drugs":"hydrochlorothiazide","pmid":30289819,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AA + AG is associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC7710914","article_title":"Effects of Mu-Opiate Receptor Gene Polymorphism rs1799971 (A118G) on the Antidepressant and Dissociation Responses in Esketamine Nasal Spray Clinical Trials","article_path":"articles/PMC7710914.md","variant_annotation_id":1451147820,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ketamine","pmid":32367114,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in changes in MADRS scores on days 2 or 28 of treatment with ketamine and an oral antidepressant compared to treatment with a placebo and an oral antidepressant.","sentence":"Allele G is not associated with response to ketamine in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5142600","article_title":"Peginterferon Alfa-2a/Ribavirin treatment efficacy in chronic hepatitis C patients is related to natural killer group 2D gene rs1049174 GC polymorphism","article_path":"articles/PMC5142600.md","variant_annotation_id":1448532419,"variant_haplotypes":"rs1049174","gene":"KLRK1","drugs":"peginterferon alfa-2b, ribavirin","pmid":28004016,"phenotype_category":"Efficacy","significance":"yes","notes":"in CHC patients with genotype 1a and 1b.","sentence":"Genotype GG is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} +{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114866,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and AUC0-12 of lopinavir or ritonavir in patients treated with lopinavir/ritonavir. Variant referred to in the paper as G2677T.","sentence":"Allele A is not associated with exposure to lopinavir or ritonavir in children with HIV Infections as compared to allele C.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4304713","article_title":"Prediction Formulas for Individual Opioid Analgesic Requirements Based on Genetic Polymorphism Analyses","article_path":"articles/PMC4304713.md","variant_annotation_id":1444694050,"variant_haplotypes":"rs2835859","gene":"KCNJ6","drugs":"fentanyl","pmid":25615449,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"A formula was developed to predict individual opioid use during the first 24-h post-operative period for patients who underwent craniofacial surgery. The post-operative period R squared values were higher when genotype information was included. In the first group fentanyl was administered by IV, on demand, with a bolus dose of 20 micrograms and a 10 minute lockout period 24-h post-op.","sentence":"Genotype TT is associated with increased dose of fentanyl in people with Pain, Postoperative as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Side Effect:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC7347085","article_title":"Factors influencing pharmacokinetics of warfarin in African\u2013Americans: implications for pharmacogenetic dosing algorithms","article_path":"articles/PMC7347085.md","variant_annotation_id":1444695840,"variant_haplotypes":"CYP2C9*1, CYP2C9*8","gene":"CYP2C9","drugs":"warfarin","pmid":25712185,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in African Americans. Patients with CYP2C9*8 had a 30% reduction in S-warfarin clearance as compared to patients with *1/*1 genotype. CYP2C9*8, but not; CYP2C9*2/*3, and body surface area (BSA)/body weight were determinants of; S-warfarin clearance (CL[S]) in African\u2013American. Dosing algorithm that excludes African-specific variant(s) may lead to prediction errors in African Americans.","sentence":"CYP2C9 *1/*8 + *8/*8 are associated with decreased clearance of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*8 + *8/*8","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6493375","article_title":"ABCC2 Polymorphisms and Haplotype are Associated with Drug Resistance in Chinese Epileptic Patients","article_path":"articles/PMC6493375.md","variant_annotation_id":827921753,"variant_haplotypes":"rs3740066","gene":"ABCC2","drugs":"antiepileptics","pmid":22630058,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP was also part of haplotype associated with response/resistance.","sentence":"Genotypes CT + TT are associated with increased resistance to antiepileptics in people with Epilepsy as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4697903","article_title":"NUDT15 c.415C>T increases risk of 6-mercaptopurine induced myelosuppression during maintenance therapy in children with acute lymphoblastic leukemia","article_path":"articles/PMC4697903.md","variant_annotation_id":1447682392,"variant_haplotypes":"rs116855232","gene":"NUDT15","drugs":"mercaptopurine","pmid":26405151,"phenotype_category":"Dosage","significance":"yes","notes":"Children with the CT or TT genotypes received 80.3%, 61.5% and 61.1% of the median cumulative dose of those with the CC genotype at 2, 4 and 6 months of the mercaptopurine maintenance phase, respectively. Additionally, patients with the CT or TT genotype were given a median dose of 28 mg/m2/day, 56% of the standard initial dose.","sentence":"Genotypes CT + TT is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407521,"variant_haplotypes":"rs4633","gene":"COMT","drugs":"morphine","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Study-wide significance was set to p<0.017.","sentence":"Allele T is not associated with response to morphine in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2492917","article_title":"Lack of tacrolimus circadian pharmacokinetics and CYP3A5 pharmacogenetics in the early and maintenance stages in Japanese renal transplant recipients","article_path":"articles/PMC2492917.md","variant_annotation_id":1183954989,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":18429967,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Dose-adjusted AUC0-12 and dose-adjusted trough levels of tacrolimus were decreased in patients with the *1/*1 (TT) or *1/*3 (CT) genotypes (\"expressers\") as compared to those with the *3/*3 (CC) genotype (\"non-expressers\"), both in the early (day 28) and maintenance (beyond 1 year) stages. Additionally, body weight-adjusted oral clearance was higher and dose-adjusted Cmax was lower in those with the *1/*1 and *1/*3 genotype as compared to those with the *3/*3 genotype; this was only significant during the early stage after transplant. No significant results were seen for AUC0-12.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased metabolism of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC9819208","article_title":"Impact of ABCC2 1249G>A and \u221224C>T Polymorphisms on Lacosamide Efficacy and Plasma Concentrations in Uygur Pediatric Patients With Epilepsy in China","article_path":"articles/PMC9819208.md","variant_annotation_id":1451921160,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"lacosamide","pmid":36253887,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype GG is associated with increased concentrations of lacosamide in children with Epilepsy as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC2858245","article_title":"Integration of genetic, clinical, and INR data to refine warfarin dosing","article_path":"articles/PMC2858245.md","variant_annotation_id":1183700748,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":20375999,"phenotype_category":"Dosage","significance":"yes","notes":"Each CYP2C9*3 allele resulted in a 28% (23-32%) decrease in therapeutic dose on Day 4 or 5 of therapy.","sentence":"CYP2C9 *3 is associated with decreased dose of warfarin as compared to CYP2C9 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983276,"variant_haplotypes":"rs2532560","gene":"PARP11","drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here (G). Remission considered to be score < or equal to 7 at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele G is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5377478","article_title":"A prospective study to assess the association between genotype, phenotype and Prakriti in individuals on phenytoin monotherapy","article_path":"articles/PMC5377478.md","variant_annotation_id":1448612922,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"phenytoin","pmid":28302415,"phenotype_category":"Toxicity","significance":"yes","notes":"Concentrations in *1/*3 were 3x more likely to have toxic concentrations of phenytoin compared to *1/*1.","sentence":"CYP2C9 *1/*3 is associated with increased concentrations of phenytoin in people with Epilepsy as compared to CYP2C9 *1/*1.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3038469","article_title":"Genetic and nongenetic factors associated with warfarin dose requirements in Egyptian patients","article_path":"articles/PMC3038469.md","variant_annotation_id":827864560,"variant_haplotypes":"rs7412","gene":"APOC1, APOE","drugs":"warfarin","pmid":21228733,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin in people with haplotype epsilon2.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:haplotype epsilon2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11208962","article_title":"A Nanopore Sequencing-based Pharmacogenomic Panel to Personalize Tuberculosis Drug Dosing","article_path":"articles/PMC11208962.md","variant_annotation_id":1452459580,"variant_haplotypes":"NAT2 intermediate acetylator","gene":"NAT2","drugs":"isoniazid","pmid":38647526,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Isoniazid clearance was 2.2 times higher among intermediate acetylators and 3.8 times higher among rapid acetylators compared with slow acetylators (p<0.0001)\" Variants measured from Table 2: rs1801279 (191G>A), rs1041983 (282C>T), rs1801280 (341T>C), rs1799929 (481C>T), rs1799930 (590G>A), rs1208 (803A>G), rs1799931 (857G>A).","sentence":"NAT2 intermediate acetylator and rapid acetylator is associated with increased clearance of isoniazid in people with Tuberculosis as compared to NAT2 slow acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate acetylator and rapid acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"slow acetylator"} +{"pmcid":"PMC4542662","article_title":"Combined Effect of CYP2B6 and NAT2 Genotype on Plasma Efavirenz Exposure During Rifampin-based Antituberculosis Therapy in the STRIDE Study","article_path":"articles/PMC4542662.md","variant_annotation_id":1452644040,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"efavirenz","pmid":25722197,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Genotype for metabolizer status determined from rs1801279, rs1801280, rs1799930, and rs1799931. Patients were taking both efavirenz and antituberculosis therapy. \"In participants with CYP2B6 extensive and intermediate metabolizer genotypes, only small differences between efavirenz Cmin concentrations on antituberculosis therapy and off antituberculosis therapy were seen for all NAT2 metabolizer genotypes. In contrast, among the 4 participants with both CYP2B6 and NAT2 slow metabolizer genotypes, efavirenz Cmin concentrations were substantially elevated on antituberculosis therapy compared to off antituberculosis therapy, with differences exceeding 8 \u00b5g/mL in 3 of these 4 participants; this was not statistically significant in this subset. One individual with slow CYP2B6 and intermediate NAT2 metabolizer genotypes had a considerably larger efavirenz Cmin concentration on vs off antituberculosis treatment.\"","sentence":"NAT2 slow acetylator is associated with increased concentrations of efavirenz in people with HIV infectious disease and Tuberculosis as compared to NAT2 rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease, Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"rapid acetylator"} +{"pmcid":"PMC6786370","article_title":"Influences of an NR1I2 polymorphism on heterogeneous antiplatelet reactivity responses to clopidogrel and clinical outcomes in acute ischemic stroke patients","article_path":"articles/PMC6786370.md","variant_annotation_id":1450127378,"variant_haplotypes":"rs2487032","gene":null,"drugs":"clopidogrel","pmid":30487649,"phenotype_category":"Efficacy","significance":"yes","notes":"This variant is associated with decreased Cmax, decreased AUC of clopidogrel, decreased H4 concentration, and decreased antiplatelet effects of clopidogrel with a higher PRU.","sentence":"Allele A is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703756,"variant_haplotypes":"rs77876672","gene":"DIAPH3","drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in diastolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele C is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5391994","article_title":"Impact of the CYP2C19 Genotype on Voriconazole Exposure in Adults with Invasive Fungal Infections","article_path":"articles/PMC5391994.md","variant_annotation_id":1448604948,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":28306618,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The study did not find a significant difference in trough concentration between the NM (*1/*1) (4.27 \u00b1 2.4 mg/l) and the IM/PM (*1/*2 + *2/*17 + *2/*2) (4.13 \u00b1 1.6 mg/l) groups, therefore these groups were combined for comparison. The mean steady-state trough concentrations were 1.35\u00b10.7, 2.97\u00b12.3, and 4.26 \u00b1 2.2 mg/l in patients with the CYP2C19 *17/*17 (UMs), *1/*17 (RMs), and other genotypes, respectively (P=0.02 for both the *17/*17 and *1/*17 genotypes compared with other genotypes. More subjects with the RM/UM phenotype had a subtherapeutic trough concentration (52 vs. 16%, P = 0.0028).","sentence":"CYP2C19 *17/*17 is associated with decreased concentrations of voriconazole in people with Mycoses as compared to CYP2C19 *1/*1 + *1/*2 + *2/*17 + *2/*2.","alleles":"*17/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Mycoses","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2 + *2/*17 + *2/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC6851426","article_title":"Pharmacogenomics and Placebo Response in a Randomized Clinical Trial in Asthma","article_path":"articles/PMC6851426.md","variant_annotation_id":1451123460,"variant_haplotypes":"rs2392165","gene":null,"drugs":"budesonide","pmid":31557306,"phenotype_category":"Efficacy","significance":"yes","notes":"The AG and GG genotypes were associated with a greater improvement in coughing and wheezing compared to the AA genotype. Note that this SNP did not reach genome-wide significance in the GWAS.","sentence":"Genotypes AG + GG are associated with increased response to budesonide in children with Asthma as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5266160","article_title":"Clinical and genetic factors associated with warfarin maintenance dose in northern Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC5266160.md","variant_annotation_id":1448567673,"variant_haplotypes":"rs2189784","gene":"CYP4F2","drugs":"warfarin","pmid":28079798,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotypes AG + GG are associated with increased dose of warfarin in people with heart valve replacement as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6587626","article_title":"MMP-2 and MMP-9 gene polymorphisms act as biological indicators for ulinastatin efficacy in patients with severe acute pancreatitis","article_path":"articles/PMC6587626.md","variant_annotation_id":1451144600,"variant_haplotypes":"rs3918242","gene":"MMP9","drugs":"ulinastatin","pmid":31192912,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele T is associated with increased response to ulinastatin in people with Pancreatitis as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pancreatitis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436786,"variant_haplotypes":"rs4673993","gene":"ATIC","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 3.3E-3.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4669157","article_title":"HLA-G 3\u2019UTR Polymorphisms Impact the Prognosis of Stage II-III CRC Patients in Fluoropyrimidine-Based Treatment","article_path":"articles/PMC4669157.md","variant_annotation_id":1447678879,"variant_haplotypes":"rs9380142","gene":"HLA-G","drugs":"capecitabine, fluorouracil","pmid":26633805,"phenotype_category":"Efficacy","significance":"yes","notes":"The authors examined disease free survival (DFS) as well as overall survival (OS). The GG genotype was associated with decreased DFS and OS.","sentence":"Genotype GG is associated with decreased response to capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3860742","article_title":"RRM1 and RRM2 pharmacogenetics: association with phenotypes in HapMap cell lines and acute myeloid leukemia patients","article_path":"articles/PMC3860742.md","variant_annotation_id":1183700211,"variant_haplotypes":"rs1265138","gene":"RRM2B","drugs":"cladribine, cytarabine","pmid":24024897,"phenotype_category":"Efficacy","significance":"yes","notes":"More patients with a complete response after the first induction therapy were seen in the AA genotype group. No multiple testing adjustments were performed: 7 SNPs were investigated.","sentence":"Genotype AA is associated with increased response to cladribine and cytarabine in children with Leukemia, Myeloid, Acute as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4618180","article_title":"Response to treatment following recently acquired hepatitis C virus infection in a multi-centre collaborative cohort","article_path":"articles/PMC4618180.md","variant_annotation_id":1444843627,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":26098993,"phenotype_category":"Efficacy","significance":"yes","notes":"in HCV genotype 1 infected patients. The association was not significant in HCV genotype 2/3 infected patients.","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680176,"variant_haplotypes":"rs295114","gene":"SPATS2L","drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was imputed rather than genotyped. This was assessed as a replication attempt for a previously reported association of a different SPATS2L SNP with response to bronchodilators. Bonferroni correction was performed according to the number of SNPs included that are within 50 kb up and downstream of SPATS2L.","sentence":"Allele C is not associated with response to salbutamol in children with Asthma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003673,"variant_haplotypes":"rs41303343","gene":"CYP3A5, ZSCAN25","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to lumefantrine in women with Malaria and Pregnancy as compared to allele del.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} +{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144286,"variant_haplotypes":"rs79403677","gene":"FAM177A1","drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC1887589","article_title":"A genome-wide approach to identify genetic variants that contribute to etoposide-induced cytotoxicity","article_path":"articles/PMC1887589.md","variant_annotation_id":1452801106,"variant_haplotypes":"rs2784917","gene":"SLIT1","drugs":"etoposide","pmid":17537913,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Specifically, rs10061997, rs12190776, rs2784917, and rs9730073 were all significant predictors of etoposide IC50. The overall estimate of R2 = 0.40, indicates 40% of the etoposide IC50 variation can be explained by these 4 SNPs in the YRI.\"","sentence":"Genotype AA is associated with decreased inhibition of etoposide as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"inhibition of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2794921","article_title":"A Genome-Wide Association Study of Citalopram Response in Major Depressive Disorder","article_path":"articles/PMC2794921.md","variant_annotation_id":981502454,"variant_haplotypes":"rs6127921","gene":null,"drugs":"citalopram","pmid":19846067,"phenotype_category":"Efficacy","significance":"no","notes":"It was also associated with remission. Neither association was significant after correction (430,198 SNPs tested). Authors point out the lack of placebo control.","sentence":"Allele C is associated with decreased response to citalopram in people with Depressive Disorder, Major as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2896457","article_title":"Dopamine D2 receptor genetic variation and clinical response to antipsychotic drug treatment: A meta-analysis","article_path":"articles/PMC2896457.md","variant_annotation_id":769168983,"variant_haplotypes":"rs1799732","gene":"DRD2","drugs":"antipsychotics","pmid":20194480,"phenotype_category":"Efficacy","significance":"yes","notes":"in a meta-analysis.","sentence":"Allele del is associated with decreased response to antipsychotics in people with Schizophrenia as compared to genotype GG.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5355968","article_title":"A Study on CYP2C19 and CYP2D6 Polymorphic Effects on Pharmacokinetics and Pharmacodynamics of Amitriptyline in Healthy Koreans","article_path":"articles/PMC5355968.md","variant_annotation_id":1448615842,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"amitriptyline","pmid":28296334,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2C19 *2/*2 + *2/*3 + *3/*3 is associated with increased exposure to amitriptyline in healthy individuals as compared to CYP2C19 *1/*1.","alleles":"*2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438094,"variant_haplotypes":"rs4816969","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 5E-9. This variant was in strong linkage disequilibrium with rs9305223 and rs2226443.","sentence":"Allele G is not associated with clearance of tenofovir in people with HIV Infections as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934437,"variant_haplotypes":"rs104894827","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the A allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Arg356Trp in the paper.","sentence":"Allele A is associated with increased response to migalastat in people with Fabry Disease.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715544,"variant_haplotypes":"rs11931604","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Dosage","significance":"no","notes":"There was no significant difference in 24 hour fentanyl use between the genotype groups.","sentence":"Allele C is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC12043259","article_title":"Pharmacogenetics of plasma dolutegravir exposure during 1-month rifapentine/isoniazid treatment of latent tuberculosis","article_path":"articles/PMC12043259.md","variant_annotation_id":1452856120,"variant_haplotypes":"rs887829","gene":"UGT1A1","drugs":"dolutegravir","pmid":39960813,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"At day 0 (before starting rifapentine/isoniazid), UGT1A1; rs887829 was associated with dolutegravir Ctrough.; Compared with rs887829 CC normal metabolizers, day; 0 Ctrough was higher in CT intermediate metabolizers; (GMR = 1.51; 90% CI: 1.10\u20132.07), and in TT poor metabolizers (GMR = 1.90; 90% CI: 1.09\u20133.28). At day 28 (with; rifapentine/isoniazid), UGT1A1 rs887829 was still associated with dolutegravir Ctrough, although the GMR values were somewhat less than at day 0. Compared with; rs887829 CC normal metabolizers, day 28 Ctrough was higher; in CT intermediate metabolizers (GMR = 1.38; 90% CI:; 1.02\u20131.86), and in TT poor metabolizers (GMR = 1.65;; 90% CI: 0.97\u20132.78). Relationships between UGT1A1 genotype and dolutegravir Ctrough are shown in Fig. 1a.\"","sentence":"Genotypes CT + TT is associated with increased dose-adjusted trough concentrations of dolutegravir in people with HIV infectious disease and Tuberculosis as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease, Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930647,"variant_haplotypes":"rs588765","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"The T allele was initially associated with an increased likelihood of being a smoker but this lost significance following correction for multiple testing.","sentence":"Allele T is not associated with exposure to nicotine in men as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5564514","article_title":"Pharmacokinetics of Metoprolol During Pregnancy and Lactation","article_path":"articles/PMC5564514.md","variant_annotation_id":1447676621,"variant_haplotypes":"CYP2D6 normal metabolizers","gene":"CYP2D6","drugs":"metoprolol","pmid":26461463,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Mean apparent oral clearance was higher in CYP2D6 EM (one functional allele (*1, *35) in combination with another functional allele or one functional allele in combination with a reduced function allele (*9, *10, *17, *41) or two reduced function alleles) as compared to CYP2D6 IM (one non-functional allele (*3, *4, *5, *6) in combination with a functional allele or a non-functional allele in combination with a reduced function allele) at 22-26 weeks of pregnancy and between 34-38 weeks of pregnancy, but not in early pregnancy or > 3 months postpartum.","sentence":"CYP2D6 normal metabolizer is associated with increased clearance of metoprolol in women with Pregnancy as compared to CYP2D6 intermediate metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pregnancy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer"} +{"pmcid":"PMC4155516","article_title":"Voriconazole plasma concentrations in immunocompromised pediatric patients vary by CYP2C19 diplotypes","article_path":"articles/PMC4155516.md","variant_annotation_id":1184748535,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"voriconazole","pmid":25084200,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Diplotype was determined as *2A/*2A. Significantly higher trough concentrations (adjusted for daily dose) was observed in the one patient with the *2A/*2A diplotype. CYP2C19*17 was defined as rs12248560 c.-806C>T, *2A as rs4244285 c.681G>A, *2B as rs4244285 and rs17878459 c.276G>C, and *1 as none of these variants.","sentence":"CYP2C19 *2/*2 (assigned as poor metabolizer phenotype) is associated with increased dose-adjusted trough concentrations of voriconazole in children with Neoplasms as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*2/*2","specialty_population":"Pediatric","metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3880259","article_title":"Association of ABCC2 \u221224C>T Polymorphism with High-Dose Methotrexate Plasma Concentrations and Toxicities in Childhood Acute Lymphoblastic Leukemia","article_path":"articles/PMC3880259.md","variant_annotation_id":1184175537,"variant_haplotypes":"rs868853","gene":"ABCC4","drugs":"methotrexate","pmid":24404132,"phenotype_category":"Metabolism/PK","significance":"no","notes":"All patients received four cycles of high dose MTX (5000mg per square meter of body surface area). 1/10th of the dose was administered over 30 minutes (rapid infusion) and the rest was administered continuously over 24hrs. Leucovorin rescue was administered every 6hrs starting 48 hrs after initiation of MTX infusion.","sentence":"Allele C is not associated with clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436746,"variant_haplotypes":"rs7412","gene":"APOC1, APOE","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 4.5E-3.","sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5859345","article_title":"Evaluation of CYP2C9- and VKORC1-based pharmacogenetic algorithm for warfarin dose in Gaza-Palestine","article_path":"articles/PMC5859345.md","variant_annotation_id":1449262882,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"warfarin","pmid":29568565,"phenotype_category":"Dosage","significance":"no","notes":"Although in the first analysis, the T allele was not found to be associated with warfarin dose in this population, the polymorphism was included in the International Warfarin Pharmacogenetic Consortium (IWPC), which was compared to a traditional clinical algorithm and the IWPC algorithm predicted dose better than the clinical algorithm.","sentence":"Allele T is associated with dose of warfarin in people with Cardiovascular Diseases as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4628029","article_title":"CYP3A5 and ABCB1 genotype influence tacrolimus and sirolimus pharmacokinetics in renal transplant recipients","article_path":"articles/PMC4628029.md","variant_annotation_id":1447520795,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"sirolimus, tacrolimus","pmid":26543771,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP3A5 *3/*3 is associated with increased dose-adjusted trough concentrations of sirolimus or tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238803,"variant_haplotypes":"rs9585618","gene":"NALCN","drugs":"ziprasidone","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele C is associated with response to ziprasidone in people with Schizophrenia.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6128165","article_title":"Testing genetic modifiers of behavior and response to atomoxetine in autism spectrum disorder with ADHD","article_path":"articles/PMC6128165.md","variant_annotation_id":1449718447,"variant_haplotypes":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2D6","drugs":"atomoxetine","pmid":30197492,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association of CYP2D6 metabolizer phenotype with ADHD symptom response or compliance response. Metabolizer status was assigned based on CPIC guidelines and the presence of the *2, *3, *4, *6, *9 *10. *17 or *41 alleles or the variants rs5758550 or rs1080985.","sentence":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes are not associated with response to atomoxetine in people with Attention Deficit Disorder with Hyperactivity as compared to CYP2D6 normal metabolizer and ultra-metabolizer genotypes.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and ultrarapid metabolizer"} +{"pmcid":"PMC4527535","article_title":"Multigene predictors of tacrolimus exposure in kidney transplant recipients","article_path":"articles/PMC4527535.md","variant_annotation_id":1444934259,"variant_haplotypes":"rs1057868","gene":"POR","drugs":"tacrolimus","pmid":26067485,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In a multivariable model adjusting for CYP3A5*1 status and clinical factors, one or two POR*28 alleles (rs1057868 CT + TT) were associated with a 4.63% reduction in trough concentrations. In a more detailed analysis, in a subset of CYP3A5 nonexpressors (*3/*3; n=997), patients with one or two POR*28 alleles had dose-adjusted trough concentrations reduced by 5.6% after adjustment for clinical factors (p=0.03). However, in a subset of CYP3A5 expressors (*1/*1 or *1/*3; n=432), with adjustment for clinical factors, the POR*28 alleles were NOT associated with trough concentrations (p=0.68). n=35,043 tacrolimus trough concentrations were available for analysis.","sentence":"Genotypes CT + TT is associated with decreased trough concentration of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC9298338","article_title":"No significant influence of OCT1 genotypes on the pharmacokinetics of morphine in adult surgical patients","article_path":"articles/PMC9298338.md","variant_annotation_id":1451648709,"variant_haplotypes":"rs72552763","gene":"SLC22A1","drugs":"morphine","pmid":34599645,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Analyzed as part of haplotypes with rs12208357, rs34059508 and rs34130495. There was a non-significant trend for patients carrying reduced function alleles to have increased exposure to morphine, but the change in exposure is not large enough to be of clinical importance.","sentence":"Allele del is not associated with exposure to morphine in people with Pain, Postoperative as compared to allele GAT.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GAT","comparison_metabolizer_types":null} +{"pmcid":"PMC2750008","article_title":"A single tumour necrosis factor haplotype influences the response to adalimumab in rheumatoid arthritis","article_path":"articles/PMC2750008.md","variant_annotation_id":1444693810,"variant_haplotypes":"rs361525","gene":"TNF","drugs":"adalimumab","pmid":17673491,"phenotype_category":"Efficacy","significance":"yes","notes":"When in a haplotype with rs1800629 and rs1799724. Response defined as a 50% percent response to adalimumab therapy according to the American College of Rheumatology criteria (ACR50 responders) at week 12 after treatment initiation. Those homozygous for the GGC (rs361525-rs1800629-rs1799724) haplotype had a significantly lower ACR50 response rate as compared to subjects with any other diplotype (see paper for diplotypes present in population). This effect was more important in a subgroup of patients receiving concomitant methotrexate.","sentence":"Genotype GG is associated with decreased response to adalimumab in people with Arthritis, Rheumatoid.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3959225","article_title":"Pharmacogenomics of insulin-like growth factor-I generation during GH treatment in children with GH deficiency or Turner syndrome","article_path":"articles/PMC3959225.md","variant_annotation_id":1449164464,"variant_haplotypes":"rs2069502","gene":"CDK4","drugs":"somatropin recombinant","pmid":23567489,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to growth hormone treatment assessed by 1-month insulin-like growth factor-I (IGF-I) generation. Multiple test correction was done for 1182 SNPs. Corrected p values was given.","sentence":"Genotype CC is associated with decreased response to somatropin recombinant in children with Turner Syndrome as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Turner Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566611,"variant_haplotypes":"rs1154461","gene":"ADH7","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this is the only snp that survived Bonferroni correction for multiple hypotheses (<0.00049). It was only significant for blood early metabolism, and the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele C is associated with metabolism of ethanol.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755959,"variant_haplotypes":"rs1883306","gene":"POU2F2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele A is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":655386935,"variant_haplotypes":"rs7793837","gene":"CRHR2","drugs":"salbutamol, selective beta-2-adrenoreceptor agonists","pmid":18408560,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased response to salbutamol and selective beta-2-adrenoreceptor agonists in people with Asthma as compared to allele A.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6361127","article_title":"Effects of UGT1A1 Genotype on the Pharmacokinetics, Pharmacodynamics, and Toxicities of Belinostat Administered by 48-Hour Continuous Infusion in Patients With Cancer","article_path":"articles/PMC6361127.md","variant_annotation_id":1447672753,"variant_haplotypes":"UGT1A1*1, UGT1A1*60","gene":"UGT1A1","drugs":"belinostat","pmid":26313268,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The dose-normalized area under the plasma concentration-time curve (AUC) was increased in carriers of the *60 alleles (*1/*60 n=7; *60/*60 n=4) in those who received a belinostat dose greater than 400 mg/m2/24h. Significant results were also seen when considering *28 and *60 alleles combined. Patients received belinostat in combination with cisplatin and etoposide. p < 0.01 was considered statistically significant.","sentence":"UGT1A1 *1/*60 + *60/*60 is associated with increased concentrations of Belinostat in people with Neoplasms.","alleles":"*1/*60 + *60/*60","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954058,"variant_haplotypes":"rs2304672","gene":"PER2","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5727754","article_title":"Effect of AGTR1 and BDKRB2 gene polymorphisms on atorvastatin metabolism in a Mexican population","article_path":"articles/PMC5727754.md","variant_annotation_id":1449169583,"variant_haplotypes":"rs1799722","gene":"BDKRB2","drugs":"atorvastatin","pmid":29250329,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"AUC (0-time t) and AUC (0-infinity) values were significantly higher in the CT genotype (180.66\u00b178.48 and 194.17\u00b177.38 ng/ml/h, respectively) vs the TT + CC genotypes combined (145.22\u00b191.08 and 159.54\u00b192.80 ng/ml/h, respectively) (P<0.05). Clearance was significantly lower in the CT genotype (469.55\u00b1168.36 l/h) vs TT+CC (643.68\u00b1304.85 l/h) (P<0.05 & adjusted R2=0.093, P=0.01). Genotype was not associated with half-life, Cmax, or elimination rate constant of atorvastatin.","sentence":"Genotype CT is associated with increased exposure to atorvastatin in healthy individuals as compared to genotypes CC + TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4560372","article_title":"Association between CXCL10 and DPP4 Gene Polymorphisms and a Complementary Role for Unfavorable IL28B Genotype in Prediction of Treatment Response in Thai Patients with Chronic Hepatitis C Virus Infection","article_path":"articles/PMC4560372.md","variant_annotation_id":1446904209,"variant_haplotypes":"rs13015258","gene":"DPP4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b","pmid":26339796,"phenotype_category":"Efficacy","significance":"no","notes":"PEG-interferon alfa (2a and b) was co-adminstered with ribavirin. Response was assessed by sustained virological response (SVR) percent by genotype. Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Genotype GG is not associated with response to peginterferon alfa-2a or peginterferon alfa-2b in people with Hepatitis C, Chronic as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2000718","article_title":"Effect of ABCB1 (MDR1) haplotypes derived from G2677T/C3435T on the pharmacokinetics of amlodipine in healthy subjects","article_path":"articles/PMC2000718.md","variant_annotation_id":982043511,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"amlodipine","pmid":16869811,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"When analyzed in combination with genotypes from rs2032582. The haplotypes were: 2677CC/3435GG, 2677AC/3435AG, 2677AA/3435AA, where rs2032582 = position 2677 and rs1045642 = position 3435.; Individuals with the 2677CC/3435GG haplotype had increased area under the time-concentration curve from 0 to 144 hours (AUC0-144) and from 0 to infinity (AUC0-infinity) and decreased oral clearance (CL/F) as compared to haplotypes 2677AA/3435AA + 2677AC/3435AG, and increased peak plasma concentration (Cmax) as compared to haplotype 2677AA/3435AA ONLY. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is associated with decreased clearance of amlodipine in healthy individuals as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4707035","article_title":"Evaluation of genetic association of neurodevelopment and neuroimmunological genes with antipsychotic treatment response in schizophrenia in Indian populations","article_path":"articles/PMC4707035.md","variant_annotation_id":1447681671,"variant_haplotypes":"rs13250975","gene":"NRG1","drugs":"antipsychotics","pmid":26788534,"phenotype_category":"Efficacy","significance":"yes","notes":"In high severity schizophrenia patient subgroup","sentence":"Allele G is associated with increased response to antipsychotics in people with Schizophrenia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2884029","article_title":"The role of organic anion-transporting polypeptides and their common genetic variants in mycophenolic acid pharmacokinetics","article_path":"articles/PMC2884029.md","variant_annotation_id":981477575,"variant_haplotypes":"rs4149117","gene":"SLCO1B3","drugs":"mycophenolate mofetil","pmid":19890249,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This finding is for patients also treated with cyclosporine.","sentence":"Allele G is not associated with clearance of mycophenolate mofetil in people with Kidney Transplantation as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038119,"variant_haplotypes":"rs2727784","gene":"APOA1","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144201,"variant_haplotypes":"rs6942227","gene":null,"drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557921,"variant_haplotypes":"rs16853834","gene":"ATIC","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4890827","article_title":"A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration","article_path":"articles/PMC4890827.md","variant_annotation_id":1446907775,"variant_haplotypes":"rs2804495","gene":"NRP1","drugs":"ranibizumab","pmid":26426212,"phenotype_category":"Efficacy","significance":"no","notes":"Response was measured as change in visual acuity after 3 months of treatment in patients who received three monthly ranibizumab injections.","sentence":"Allele G is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3348126","article_title":"Pharmacogenetics Meets Metabolomics: Discovery of Tryptophan as a New Endogenous OCT2 Substrate Related to Metformin Disposition","article_path":"articles/PMC3348126.md","variant_annotation_id":982046569,"variant_haplotypes":"rs316019","gene":"SLC22A2","drugs":"l-tryptophan","pmid":22590580,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"A gene dose effect was observed in that clearance of tryptophan decreased in the following manner: CC>AC>AA.","sentence":"Genotype CC is associated with increased clearance of l-tryptophan as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC4557249","article_title":"Association of serotonin transporter (SLC6A4) & receptor (5HTR1A, 5HTR2A) polymorphisms with response to treatment with escitalopram in patients with major depressive disorder: A preliminary study","article_path":"articles/PMC4557249.md","variant_annotation_id":1452040181,"variant_haplotypes":"rs6311","gene":"HTR2A","drugs":"escitalopram","pmid":26261165,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to escitalopram Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5249113","article_title":"Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis","article_path":"articles/PMC5249113.md","variant_annotation_id":1448995971,"variant_haplotypes":"rs2233945","gene":"PSORS1C1","drugs":"etanercept","pmid":28107378,"phenotype_category":"Efficacy","significance":"yes","notes":"The degree of response was determined by EULAR score.; A significant association between rs2233945 and response to etanercept was seen at six months after beginning treatment. No significant association was seen at two years after beginning treatment.; No significant associations were seen at either time point when response was measured as number of patients in remission or with low disease activity.","sentence":"Allele C is associated with decreased response to etanercept in people with Arthritis, Rheumatoid as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356763,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11652804","article_title":"Sex\u2010Dependent Effects of CYP2D6 on the Pharmacokinetics of Berberine in Humans","article_path":"articles/PMC11652804.md","variant_annotation_id":1452699064,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"berberine","pmid":39488825,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The effects of CYP2D6 on berberine pharmacokinetics were only observed in females and not in males (Figure 5c). Females who were poor CYP2D6 metabolizers showed 79% lower M1-to-berberine ratios compared with females with reference genotype (P = 2.3 \u00d7 10 \u22124 , Welch\u2019s t-test on log 2 values). In contrast, no genotype-dependent difference was observed in males.\" \"Poor CYP2D6 metabolizers were defined as homozygous or compound heterozygous carriers of CYP2D6 alleles *3, *4, *5 or *6. In the reference group, we included carriers of two fully active alleles of OCT1 (OCT1*1) and CYP2D6(CYP2D6*1, *2, and *35) without duplication\"","sentence":"CYP2D6 poor metabolizer is associated with decreased metabolism of berberine in women as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5006145","article_title":"Impact of CYP2C9, VKORC1 and CYP4F2 genetic polymorphisms on maintenance warfarin dosage in Han-Chinese patients: A systematic review and meta-analysis","article_path":"articles/PMC5006145.md","variant_annotation_id":1449259246,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":27617219,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is associated with increased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10099095","article_title":"Estimating the In Vivo Function of CYP2D6 Alleles through Population Pharmacokinetic Modeling of Brexpiprazole","article_path":"articles/PMC10099095.md","variant_annotation_id":1452037200,"variant_haplotypes":"CYP2D6*1, CYP2D6*2","gene":"CYP2D6","drugs":"brexpiprazole","pmid":36350097,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in patients and healthy individuals from clinical studies. \"CYP2D6*2 allele (n = 183); was associated with only 10% enzyme activity relative to the wild-type allele (CYP2D6*1)\"","sentence":"CYP2D6 *2 is associated with decreased metabolism of brexpiprazole as compared to CYP2D6 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3248259","article_title":"Pharmacokinetics and pharmacodynamics following maintenance doses of prasugrel and clopidogrel in Chinese carriers of CYP2C19 variants","article_path":"articles/PMC3248259.md","variant_annotation_id":1450664729,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"prasugrel","pmid":21689142,"phenotype_category":"Efficacy","significance":"no","notes":"Response to prasugrel treatment was unaffected by CYP2C19 genetic variation based on IPA to 20 mM ADP as measured by LTA, the VN P2Y12 assay and VASP phosphorylation.","sentence":"CYP2C19 *2/*2 + *2/*3 are not associated with response to prasugrel in healthy individuals as compared to CYP2C19 *1/*1.","alleles":"*2/*2 + *2/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183634268,"variant_haplotypes":"rs6083538","gene":null,"drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"There was a trend in results but significance was not attained. Association with systolic BP reduction was closest to being significant. Observations: 2.91 mm Hg increased reduction of systolic blood pressure per T allele in PEAR + GERA, 0.41mm Hg increased reduction of systolic blood pressure per T allele in NORDIL, and 2.34 mm Hg increased reduction of systolic blood pressure per T allele in PEAR + GERA + NORDIL.","sentence":"Allele T is associated with increased response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3947488","article_title":"Factors Associated with Variability in Rifampin Plasma Pharmacokinetics and the Relationship between Rifampin Concentrations and Induction of Efavirenz Clearance","article_path":"articles/PMC3947488.md","variant_annotation_id":1183704865,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"rifampin","pmid":24420746,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Higher Cmax concentrations of rifampin were observed in individuals with the GG genotype.","sentence":"Genotype GG is associated with decreased clearance of rifampin in healthy individuals as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC2760462","article_title":"Atazanavir pharmacokinetics in genetically determined CYP3A5 expressors versus non-expressors","article_path":"articles/PMC2760462.md","variant_annotation_id":1450984320,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"atazanavir","pmid":19710077,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"For the haplotype \"1236C/2677G/3435C\" \"subjects with zero CGC copies had faster atazanavir CL/F and lower Cmin compared with individuals with one or two CGC copies\"(complemented to plus chromosomal strand). In this two-phase study, healthy participants were given atazanavir only for 7 days and then were co-administered ritonavir as a booster for days 8-14. The results here are for day 1-7 (atazanavir alone). By the end of day 7 oral clearance of atazanavir was 0.25, 0.18, 0.17 L/h/kg in people with 0, 1 or 2 copies of the haplotype, respectively. Cmin was 66, 159 and 209 ng/mL in people with 0,1 or 2 copies, respectively.","sentence":"Genotype AA is associated with increased clearance of atazanavir in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11852071","article_title":"Pharmacogenetics and Pharmacokinetics of Moxifloxacin in MDR-TB Patients in Indonesia: Analysis for ABCB1 and SLCO1B1","article_path":"articles/PMC11852071.md","variant_annotation_id":1452864440,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"moxifloxacin","pmid":40001447,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles complemented. \"This study found no association between genotype variations in ABCB1 and SLCO1B1 and the AUC0\u201324 and Cmax of moxifloxacin.\" The majority of patients were CC (n=38) or AC (n=34) with AA (n=4), AT (n=2) and CT (n=2). There was wide variety of AUCs.","sentence":"Genotype AC is not associated with increased exposure to moxifloxacin in people with Drug Resistance and Tuberculosis as compared to genotype CC.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Efficacy:Drug Resistance, Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157264,"variant_haplotypes":"rs581111","gene":"OPRD1","drugs":"methadone","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436919,"variant_haplotypes":"rs20455","gene":"KIF6","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 3.3E-3.","sentence":"Allele G is not associated with clearance of tenofovir in people with HIV Infections as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC9961245","article_title":"Pharmacokinetics of Tamoxifen and Its Major Metabolites and the Effect of the African Ancestry Specific CYP2D6*17 Variant on the Formation of the Active Metabolite, Endoxifen","article_path":"articles/PMC9961245.md","variant_annotation_id":1452032700,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*17","gene":"CYP2D6","drugs":"endoxifen","pmid":36836506,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Authors looked at CYP2D6*1/*1, *1/*2 or *2/*2 v CYP2D6*1/*17 or *2/*17 v CYP2D6*17/*17. Volunteers were mostly men (n=39, women n=3), received 20mg tamoxifen.","sentence":"CYP2D6 *17 is associated with increased exposure to endoxifen in healthy individuals as compared to CYP2D6 *1 + *2.","alleles":"*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *2","comparison_metabolizer_types":null} +{"pmcid":"PMC5323433","article_title":"Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer","article_path":"articles/PMC5323433.md","variant_annotation_id":1448494366,"variant_haplotypes":"rs1043657","gene":"AKR7A2","drugs":"exemestane","pmid":27549341,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in exemestane concentrations were seen between the three genotypes. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are not associated with concentrations of exemestane in women with Breast Neoplasms as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC11310823","article_title":"Pharmacogenetic Variants and Plasma Concentrations of Antiseizure Drugs: A Systematic Review and Meta-Analysis","article_path":"articles/PMC11310823.md","variant_annotation_id":1452563880,"variant_haplotypes":"CYP2C9 intermediate metabolizer","gene":"CYP2C9","drugs":"valproic acid","pmid":39115847,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Compared with the respective normal metabolizers, we observed increased valproate plasma concentrations in CYP2C9 intermediate metabolizers (12% [95% CI, 4%-20%]), CYP2C19 intermediate metabolizers (12% [95% CI, 2%-24%]) and CYP2C19 poor metabolizers (20% [95% CI, 2%-41%]) (Table 3).\" Decreased activity: CYP2C9*2: rs1799853; Abolished activity: CYP2C9*3: rs1057910","sentence":"CYP2C9 intermediate metabolizer is associated with increased concentrations of valproic acid as compared to CYP2C9 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3786668","article_title":"Human Polymorphisms in the Glutathione Transferase Zeta 1/Maleylacetoacetate Isomerase Gene Influence the Toxicokinetics of Dichloroacetate","article_path":"articles/PMC3786668.md","variant_annotation_id":827787027,"variant_haplotypes":"rs1046428","gene":"GSTZ1, POMT2","drugs":"dichloroacetic acid","pmid":21642471,"phenotype_category":"Toxicity, Metabolism/PK","significance":"no","notes":"The statement above is meant for a haplotype rather than for the allele. For the various possible haplotype combinations involving rs7975,rs7972,rs1046428, the slowest clearance and the highest urinary excretion of unmetabolized C(13)-DCA was observed for a subject homozygous for G for rs7975,G for rs7972, T for rs1046428.","sentence":"Allele T is associated with decreased clearance of dichloroacetic acid in children Mitochondrial Diseases.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":"Disease:Mitochondrial Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767325,"variant_haplotypes":"rs3008634","gene":"AIDA","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele T is not associated with trough concentration of vancomycin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2662935","article_title":"\u03b2-Adrenergic Receptor Polymorphisms and Response to Salmeterol","article_path":"articles/PMC2662935.md","variant_annotation_id":699639135,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"salmeterol","pmid":16322642,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotype AA is associated with decreased response to salmeterol in people with Asthma as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002489,"variant_haplotypes":"rs17160359","gene":"ABCB1","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"not stated","notes":"pfSNP identified 2800 SNPS associated with key-words: 5-FU, capecitabine and oxilaplatin and colorectal cancer. Various criteria were used to determine 1536 SNPs to genotype. These SNPs were genotyped in a discovery cohort (N=62) and tested in a validation cohort (N=27). Both cohorts consisted of patients with colorectal cancer metastasis in liver. Five SNPs (rs2289310 G>T; rs1047840 G>A; rs17431184 T>C; rs17160359 G>T; rs2236722 A>G) were identified as distinguishing the \"non-responder\" phenotype from the \"responder\" phenotype when using a logistic regression multivariate model. The AUC for the receiver operating characteristic curve of the 5 SNPs is 0.875. This logistic-based multivariate model is said to be able to identify 39.1% of non-responders.","sentence":"Allele T is associated with increased response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672824,"variant_haplotypes":"rs761666827","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as neutral function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele T is not associated with metabolism of nicotine as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4356257","article_title":"Translesion Polymerase Genes Polymorphisms and Haplotypes Influence Survival of Osteosarcoma Patients","article_path":"articles/PMC4356257.md","variant_annotation_id":1447675704,"variant_haplotypes":"rs3087403","gene":"REV1","drugs":"cisplatin","pmid":25748439,"phenotype_category":"Efficacy","significance":"yes","notes":"Presence of at least one T allele is associated with reduced event-free survival (p = 0.004) and overall survival (p < 0.001), with followup until recurrence or death, with a mean follow-up of 143 months.","sentence":"Genotypes CT + TT are associated with increased response to cisplatin in people with Osteosarcoma as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4868001","article_title":"Frequencies of CYP2C9 polymorphisms in North Indian population and their association with drug levels in children on phenytoin monotherapy","article_path":"articles/PMC4868001.md","variant_annotation_id":1449565846,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"phenytoin","pmid":27179628,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2C9 *1/*2 is not associated with concentrations of phenytoin in children with as compared to CYP2C9 *1/*1.","alleles":"*1/*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4023787","article_title":"CYP2B6 18492T\u2192C Polymorphism Compromises Efavirenz Concentration in Coinfected HIV and Tuberculosis Patients Carrying CYP2B6 Haplotype *1/*1","article_path":"articles/PMC4023787.md","variant_annotation_id":1184467298,"variant_haplotypes":"rs2279345","gene":"CYP2B6","drugs":"efavirenz","pmid":24492364,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Significantly lower efavirenz plasma levels were observed in patients with the CC genotype compared to TT at 12 weeks of antiretroval treatment (during anti-TB treatment which included rifampin), and at 24 weeks (after rifampin discontinuation). Significantly lower efavirenz plasma levels were observed in patients with the CT genotype compared to TT only at 24 weeks (after rifampin discontinuation). All patients had the CYP2B6*1/*1 haplotype (as determined by 7 SNPs) before being assessed by this SNP. Please note; this SNP was described as 18492T>C (and previous studies by this group provided the rsID). Multivariate analysis of efavirenz plasma levels at weeks 12 and 24 of treatment showed that this SNP significantly contributed with the C allele was associated with decreased efavirenz plasma concentrations (P at 12 week=0.004 and p at 24 week = 0.007).","sentence":"Genotypes CC + CT are associated with increased metabolism of efavirenz in people with HIV Infections as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373211,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not significantly associated with compliance with methadone maintenance therapy or 'negative rate of morphine urine test'.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to methadone in people with Heroin Dependence as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4613195","article_title":"Impact of Single Nucleotide Polymorphisms (SNPs) on Immunosuppressive Therapy in Lung Transplantation","article_path":"articles/PMC4613195.md","variant_annotation_id":1448099974,"variant_haplotypes":"rs3740066","gene":"ABCC2","drugs":"mycophenolic acid","pmid":26307985,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Concentrations measured as trough blood drug concentrations. Differences in concentrations were seen 3 months after transplant.","sentence":"Genotype CT is associated with decreased concentrations of mycophenolic acid in people with lung transplantation as compared to genotypes CC + TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767392,"variant_haplotypes":"rs17011686","gene":"AIDA","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele G is not associated with trough concentration of vancomycin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680733,"variant_haplotypes":"rs35303484","gene":"CYP2B6","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype AA is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5395152","article_title":"The magnitude of ivacaftor effects on fluid secretion via R117H-CFTR channels: Human in vivo measurements","article_path":"articles/PMC5395152.md","variant_annotation_id":1449192603,"variant_haplotypes":"rs78655421","gene":"CFTR","drugs":"ivacaftor","pmid":28419121,"phenotype_category":"Efficacy","significance":"yes","notes":"R117H allele. Assessment of C-sweat in three cystic fibrosis patients. A R117H-7T/F508del patient and a R117H-7T/R117H-7T patient both showed increased C-sweat production when treated with ivacaftor. However, a R117H-5T/F508del patient did not have a C-sweat response to ivacaftor.","sentence":"Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183698989,"variant_haplotypes":"rs546120","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses). Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165218,"variant_haplotypes":"rs784888","gene":"SP1","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with exposure to metformin as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2014233","article_title":"Functional significance of a C\u2192A polymorphism in intron 1 of the cytochrome P450 CYP1A2 gene tested with caffeine","article_path":"articles/PMC2014233.md","variant_annotation_id":769247726,"variant_haplotypes":"rs762551","gene":"CYP1A2","drugs":"caffeine","pmid":10233211,"phenotype_category":"Other, Metabolism/PK","significance":"yes","notes":"this was significant in smokers but not non-smokers.","sentence":"Genotype AA is associated with increased metabolism of caffeine as compared to genotype AC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC","comparison_metabolizer_types":null} +{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171094,"variant_haplotypes":"rs3211371","gene":"CYP2B6","drugs":"S-EDDP","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with concentrations of (S)-EDDP as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4034115","article_title":"Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders","article_path":"articles/PMC4034115.md","variant_annotation_id":1184510528,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"methylphenidate","pmid":23856854,"phenotype_category":"Efficacy","significance":"yes","notes":"Positive response defined as Clinical Global Impression-Improvement (CGI-I) rating of 'much improved' or 'very much improved', and decrease in Aberrant Behavior Checklist-Hyperactivity subscale of >25% from baseline. This result was not significant when considering correction for multiple testing (p<0.002).","sentence":"Genotype CC is associated with increased response to methylphenidate in children with Autism Spectrum Disorder as compared to genotypes CG + GG.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Autism Spectrum Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4965653","article_title":"Genetic Variations in Attention Deficit Hyperactivity Disorder Subtypes and Treatment Resistant Cases","article_path":"articles/PMC4965653.md","variant_annotation_id":1450376719,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"methylphenidate","pmid":27482244,"phenotype_category":"Efficacy","significance":"no","notes":"Patients underwent the same naturalistic assessment procedure to evaluate the treatment response, which included the reapplication of the CPRS, CTRS, CGI-S, GAS, CPT and TMT A and B. Treatment responders were defined as follows: patients registering 2 points or greater improvement on the CGI-S and a total GAS score of 60 points or greater (out of 108 subjects 66.6% responded to the treatment, while 33.3% did not). No association for distribution of genotypes according to treatment response. However, multiple logistic regression analysis to examine the relationship between various clinical parameters and treatment response showed that ADRA2A GG genotype (OR=5.6), the presence of a psychiatric comorbidity (OR=5.6) and low SES (OR=2.3) were associated with reduced response to methylphenidate treatment.","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele C.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5887212","article_title":"Cholinergic receptor nicotinic alpha 5 subunit polymorphisms are associated with smoking cessation success in women","article_path":"articles/PMC5887212.md","variant_annotation_id":1450928777,"variant_haplotypes":"rs16969968","gene":"CHRNA5","drugs":"bupropion, nicotine, varenicline","pmid":29621993,"phenotype_category":"Efficacy","significance":"no","notes":"No significant effect of genotype on likelihood of male subjects being abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation.","sentence":"Allele A is not associated with response to bupropion, nicotine or varenicline in men with Tobacco Use Disorder as compared to genotype GG.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in men with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11158323","article_title":"CYP2A6 and the plasma level of 5\u2010chloro\u20102, 4\u2010dihydroxypyridine are determinants of the pharmacokinetic variability of tegafur and 5\u2010fluorouracil, respectively, in Japanese patients with cancer given S\u20101","article_path":"articles/PMC11158323.md","variant_annotation_id":827700554,"variant_haplotypes":"CYP2A6*1, CYP2A6*4, CYP2A6*7, CYP2A6*9","gene":"CYP2A6","drugs":"tegafur","pmid":18380793,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Oral clearance. Please note; the alleles were described in the study as *9 and *4, and here is represented as *9 and *4. Also, the 3' UTR conversion of the *7 allele was not mentioned in the study.","sentence":"CYP2A6 *4/*9 + *7/*9 + *9/*9 are not associated with decreased clearance of tegafur in people with Neoplasms as compared to CYP2A6 *1/*1.","alleles":"*4/*9 + *7/*9 + *9/*9","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3735354","article_title":"CYP2B6 SNPs are associated with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3735354.md","variant_annotation_id":1183698967,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"methadone","pmid":21790905,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the AA or AG genotype required an increased mean daily methadone dose (mg/day) as compared to those with the GG genotype. Please note that this SNP was found to be in strong LD (D' = 1 and r2 = 0.9) with rs3745274 in this sample population.","sentence":"Genotypes AA + AG are associated with increased dose of methadone in people with Heroin Dependence as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550259,"variant_haplotypes":"rs12705169","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele G is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC7303159","article_title":"Identification of a novel polymorphism associated with reduced clozapine concentration in schizophrenia patients\u2014a genome-wide association study adjusting for smoking habits","article_path":"articles/PMC7303159.md","variant_annotation_id":1451356100,"variant_haplotypes":"rs28379954","gene":"NFIB","drugs":"clozapine","pmid":32555152,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"GWAS analysis was conducted after adjusting for smoking habits of study participants.","sentence":"Genotype CT is associated with decreased concentrations of clozapine in people with Schizophrenia as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3038469","article_title":"Genetic and nongenetic factors associated with warfarin dose requirements in Egyptian patients","article_path":"articles/PMC3038469.md","variant_annotation_id":827864558,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":21228733,"phenotype_category":null,"significance":"no","notes":"A significant association between genotype and dose was not found in this study; however, the trend for this association \"was consistent with the literature\".","sentence":"Allele C is not associated with decreased dose of warfarin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3880259","article_title":"Association of ABCC2 \u221224C>T Polymorphism with High-Dose Methotrexate Plasma Concentrations and Toxicities in Childhood Acute Lymphoblastic Leukemia","article_path":"articles/PMC3880259.md","variant_annotation_id":1184175529,"variant_haplotypes":"rs9516519","gene":"ABCC4","drugs":"methotrexate","pmid":24404132,"phenotype_category":"Metabolism/PK","significance":"no","notes":"All patients received four cycles of high dose MTX (5000mg per square meter of body surface area). 1/10th of the dose was administered over 30 minutes (rapid infusion) and the rest was administered continuously over 24hrs. Leucovorin rescue was administered every 6hrs starting 48 hrs after initiation of MTX infusion.","sentence":"Allele G is not associated with clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6612264","article_title":"Efficacy and safety of lumacaftor/ivacaftor combination therapy in patients with cystic fibrosis homozygous for Phe508del CFTR by pulmonary function subgroup","article_path":"articles/PMC6612264.md","variant_annotation_id":1448107229,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor / lumacaftor","pmid":27298017,"phenotype_category":"Efficacy","significance":"yes","notes":"This was a pooled analysis, stratifying patients by specific categories of lung function, including severe lung dysfunction with ppFEV less than 40. Some patients experienced respiratory adverse events upon initiation of therapy but these usually resolved with continued therapy. Patients were randomized to receive either 600 mg lumacaftor with 250 mg ivacaftor every 12 hours, or 400 mg lumacaftor with 250 mg ivacaftor every 12 hours, or placebo.","sentence":"Genotype del/del is associated with increased response to ivacaftor / lumacaftor in people with Cystic Fibrosis as compared to genotypes CTT/CTT + CTT/del.","alleles":"del/del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CTT/CTT + CTT/del","comparison_metabolizer_types":null} +{"pmcid":"PMC10452379","article_title":"Novel Gene Polymorphisms for Stable Warfarin Dose in a Korean Population: Genome-Wide Association Study","article_path":"articles/PMC10452379.md","variant_annotation_id":1452221239,"variant_haplotypes":"rs4386623","gene":"FRAS1","drugs":"warfarin","pmid":37626805,"phenotype_category":"Dosage","significance":"yes","notes":"in univariate analysis of patients on stable dose. \"FRAS1 rs4386623 A allele carriers necessitated significantly higher warfarin doses compared to non-carriers\"","sentence":"Genotypes AA + AG is associated with increased dose of warfarin in people with heart valve replacement as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2042718","article_title":"A novel mutant variant of the CYP2D6 gene (CYP2D6 17) common in a black African population: association with diminished debrisoquine hydroxylase activity","article_path":"articles/PMC2042718.md","variant_annotation_id":1447990816,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*17","gene":"CYP2D6","drugs":"debrisoquine","pmid":8971426,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"MR of was higher for *1/*17 (n=23) mean value 1.45. Mean MR values *1/*1(n=12) =0.56 and *1/*2 (n=13)=0.59.","sentence":"CYP2D6 *1/*17 is associated with decreased metabolism of debrisoquine in healthy individuals as compared to CYP2D6 *1/*1 + *1/*2.","alleles":"*1/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC3787223","article_title":"A Markov Chain Model to Evaluate the Effect of CYP3A5 and ABCB1 Polymorphisms on Adverse Events Associated with Tacrolimus in Pediatric Renal Transplantation","article_path":"articles/PMC3787223.md","variant_annotation_id":1184514654,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":23990505,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients who were CYP3A5 nonexpressors (CYP3A5 *3/*3; CC) had increased dose-normalized by body weight concentration of tacrolimus as compared to those who were expressors (CYP3A5 *1/*1 or *1/*3; TT or CT).","sentence":"CYP3A5 *3/*3 is associated with decreased metabolism of tacrolimus in children with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC3100585","article_title":"Induction of CYP3A4 by Vinblastine: Role of the Nuclear Receptor NR1I2","article_path":"articles/PMC3100585.md","variant_annotation_id":827811113,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"midazolam","pmid":20959500,"phenotype_category":"Other, Metabolism/PK","significance":"no","notes":"It's not clear exactly what genotype comparison was done or what the genotypes were, but there was approximately one CT subject and 5 TT subjects. Frequency entered in Study Parameter section is based on that number. Subjects were treated with vinblastine/valspodar. [stat_test: nonparametric 2-sided Wilcoxon signed-rank]","sentence":"Allele C is not associated with increased clearance of midazolam in people with Carcinoma, Renal Cell as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5599305","article_title":"Nicotine Dependence is Associated with Functional Variation in FMO3, an Enzyme that Metabolizes Nicotine in the Brain","article_path":"articles/PMC5599305.md","variant_annotation_id":1449157859,"variant_haplotypes":"rs2266780","gene":"FMO3","drugs":"nicotine","pmid":28290528,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Individuals with the AA genotype have a greater percent of both deuterated nicotine and non-deuterated nicotine metabolized to nicotine-N-oxide as compared to the AG or GG genotype.","sentence":"Genotype AA is associated with increased metabolism of nicotine as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4432150","article_title":"Influence of ABCC2 and ABCC4 Polymorphisms on Tenofovir Plasma Concentrations in Thai HIV-Infected Patients","article_path":"articles/PMC4432150.md","variant_annotation_id":1444703303,"variant_haplotypes":"rs1751034","gene":"ABCC4","drugs":"tenofovir","pmid":25801567,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes CC + CT is not associated with concentrations of tenofovir in people with HIV Infections as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4892373","article_title":"Association of a single nucleotide polymorphism near the interleukin-28B gene with response to hepatitis C therapy in HIV/hepatitis C virus-coinfected patients","article_path":"articles/PMC4892373.md","variant_annotation_id":981501391,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":20389235,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients received peginterferon alpha-2A or 2B, along with ribavirin. This effect was found in HCV genotypes 1 and 4 but not 3. These patients were coinfected with HIV. The association was with SVR. 75% of CC vs 38% of CT and TT achieved SVR. Note: the frequency of CC in patients with spontaneous HCV clearance was significantly higher than in chronically HIV/HCV coinfected patients.","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407492,"variant_haplotypes":"rs16918875","gene":"OPRK1","drugs":"morphine","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Study-wide significance was set to p<0.017.","sentence":"Allele A is not associated with response to morphine in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680825,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles given as A and G.","sentence":"Genotype CC is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557898,"variant_haplotypes":"rs17602729","gene":"AMPD1","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3978988","article_title":"Lack of association between plasma levels of non-nucleoside reverse transcriptase inhibitors & virological outcomes during rifampicin co-administration in HIV-infected TB patients","article_path":"articles/PMC3978988.md","variant_annotation_id":1448993465,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":24521642,"phenotype_category":"Efficacy","significance":"yes","notes":"\"CYP2B6 516 G>T polymorphism was found to be significantly associated with virological outcomes in patients receiving EFV-based regimen; patients belonging to GG/GT genotype were more likely to have an unfavourable outcome (P=0.022).\"","sentence":"Genotype TT is associated with increased response to efavirenz in people with HIV Infections and Tuberculosis as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease, Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC11666798","article_title":"Influence of CYP2C8*3 and ABCG2 C421A genetic polymorphisms on trough concentration and molecular response of imatinib in Egyptian patients with chronic myeloid leukemia","article_path":"articles/PMC11666798.md","variant_annotation_id":1452798922,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"imatinib","pmid":39714624,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. There were no TT homozygotes. \"However, a statistically significant difference was noted between the two patient groups regarding the distribution of different genotypes of the ABCG2 C421A polymorphism with predominance of the CA genotype in responder patients (p\u2009=\u20090.0395) (Fig. 2b).; Assessment of molecular response to imatinib based on the BCR-ABL1 transcript level at 12 months. Responders (n\u2009=\u200926); Non-responders (n\u2009=\u200924). \"","sentence":"Genotype GT is associated with increased clinical benefit to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype GG.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5519037","article_title":"Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer","article_path":"articles/PMC5519037.md","variant_annotation_id":1448636654,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"everolimus","pmid":28727815,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note: alleles have been complemented to the positive chromosomal strand.","sentence":"Genotypes CT + TT are not associated with concentrations of everolimus in women with Breast Neoplasms as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC11855146","article_title":"Genetic Variants of SLC22A1 rs628031 and rs622342 and Glycemic Control in T2DM Patients from Northern Mexico","article_path":"articles/PMC11855146.md","variant_annotation_id":1452867580,"variant_haplotypes":"rs622342","gene":"SLC22A1","drugs":"metformin","pmid":40004467,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Carriers of at least one minor allele of A-rs628031 and C-rs622342 had lower HbA1c values than individuals homozygous for the major allele in both genes.\"","sentence":"Genotypes AC + CC is associated with increased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6375065","article_title":"An expanded pharmacogenomics warfarin dosing table with utility in generalised dosing guidance","article_path":"articles/PMC6375065.md","variant_annotation_id":1448109670,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"warfarin","pmid":27121899,"phenotype_category":"Dosage","significance":"not stated","notes":"This variant annotation is part of a dosing algorithm table based on 8 genetic variants.","sentence":"Allele C is associated with dose of warfarin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3729209","article_title":"CYP2B6 and bupropion\u2019s smoking cessation pharmacology: the role of hydroxybupropion","article_path":"articles/PMC3729209.md","variant_annotation_id":1445403174,"variant_haplotypes":"CYP2B6*1, CYP2B6*4, CYP2B6*5, CYP2B6*6, CYP2B6*18, CYP2B6*22","gene":"CYP2B6","drugs":"bupropion","pmid":23149928,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Light smokers. Individuals with two copies of a reduced function allele (*6, *18) were grouped into the \"slow metabolizer\" group. The genotypes within this group were *6/*6 (n=22), *6/*18 (n=8), *6/*6 + *1/*22 (compound heterozygote; n=1). Individuals with *1/*1 (n=48), *1/*4 (n=1), *1/*5 (n=4), *1/*22 (n=4), and *22/*22 (n=1) genotype were considered normal metabolizers. Slow metabolizers had decreased hydroxybupropion levels and hydroxybupropion/bupropion ratios as compared to normal metabolizers. No significant result was seen when considering bupropion levels (p=0.297).","sentence":"CYP2B6 *6/*6 + *6/*18 is associated with decreased metabolism of bupropion in people with Tobacco Use Disorder as compared to CYP2B6 *1/*1 + *1/*4 + *1/*5 + *1/*22 + *22/*22.","alleles":"*6/*6 + *6/*18","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*4 + *1/*5 + *1/*22 + *22/*22","comparison_metabolizer_types":null} +{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680038,"variant_haplotypes":"rs8191725","gene":"IGF2R","drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"yes","notes":"The allele associated with increased response and low frequency is not explicitly stated. Response is increased for carriers of the rare, minor allele. This association was significant in the initial GWAS (in GALA II), but it was not significant in an attempted replication by imputation in silico in GALA I. GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation.","sentence":"Genotype AG is associated with increased response to salbutamol in children with Asthma as compared to genotype AA.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3749570","article_title":"VEGF-A polymorphisms predict progression-free survival among advanced castration-resistant prostate cancer patients treated with metronomic cyclophosphamide","article_path":"articles/PMC3749570.md","variant_annotation_id":1183699164,"variant_haplotypes":"rs2010963","gene":"VEGFA","drugs":"cyclophosphamide","pmid":23860526,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference genotype frequencies were seen between patients who were responders to chemotherapy, and those who were non-responders. Patients with advanced prostate cancer undergoing metronomic chemotherapy. Responders were classified as patients who had a decrease in prostrate-specific antigen (PSA) of >= 50% and a PSA stabilization of >= 6 months. Patients also received celecoxib and dexamethasone, and some patients received docetaxel-, mitoxantrone-, and vinorelbine-based chemotherapeutic regimens.","sentence":"Genotype CC is not associated with response to cyclophosphamide in people with Prostatic Neoplasms as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757043,"variant_haplotypes":"rs12714145","gene":"GGCX","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele C is not associated with dose of warfarin in people with heart valve replacement as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811650,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and any individual item or total score on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele G is not associated with response to ethanol as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375583,"variant_haplotypes":"rs4148155","gene":"ABCG2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele G is associated with decreased response to allopurinol as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3419350","article_title":"CYP2C19 polymorphism affects single-dose pharmacokinetics of oral pantoprazole in healthy volunteers","article_path":"articles/PMC3419350.md","variant_annotation_id":1447947333,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"pantoprazole","pmid":22418828,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"There were 2 *2/*2 and 6 *1/*1.","sentence":"CYP2C19 *2/*2 is associated with decreased clearance of pantoprazole in healthy individuals as compared to CYP2C19 *1/*1.","alleles":"*2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2683977","article_title":"Use of Pharmacogenetic and Clinical Factors to Predict the Therapeutic Dose of Warfarin","article_path":"articles/PMC2683977.md","variant_annotation_id":827602050,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"warfarin","pmid":18305455,"phenotype_category":"Dosage","significance":"yes","notes":"CYP2C9*2 is associated with a 19% decrement in the warfarin dose per; allele.","sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183631267,"variant_haplotypes":"rs2273359","gene":"NELFCD","drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"There is potential for strand confusion with a CG SNP, and it is not clear with respect to the positive chromosomal strand which allele is associated with better response. The article text states that no GG were observed, but table 2 lists C as the low frequency allele. The association did not reach genome-wide significance when only PEAR + GERA were analyzed, but this SNP was selected for replication in NORDIL, where the association also did not reach significance. This association approached genome-wide significance in the meta-analysis of PEAR + GERA + NORDIL. Observations: 8.21 mm Hg decrease in reduction of systolic blood pressure per C allele in PEAR + GERA, 7.79 mm Hg decrease in reduction in systolic blood pressure per C allele in NORDIL and 8.15 mm Hg decrease in reduction of systolic blood pressure per C allele in PEAR + GERA + NORDIL.","sentence":"Genotype CG is associated with increased response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to genotype CC.","alleles":"CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472424,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"yes","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4631186","article_title":"The FNTB promoter polymorphism rs11623866 as a potential predictive biomarker for lonafarnib treatment of ovarian cancer patients","article_path":"articles/PMC4631186.md","variant_annotation_id":1446899495,"variant_haplotypes":"rs11623866","gene":"FNTB","drugs":"carboplatin, lonafarnib, paclitaxel","pmid":26033044,"phenotype_category":"Efficacy","significance":"yes","notes":"The authors actually compared progression free survival (PFS) and overall survival (OS) for individuals with the GG, CG, or CC genotypes between treatment arms: lonafarnib, paclitaxel, and carboplatin (LTC) versus paclitaxel and carboplatin (TC) treatment. The PFS and OS were both much lower in women with the GG genotype who were on the LTC treatment arms.","sentence":"Genotype GG is associated with response to carboplatin, lonafarnib and paclitaxel in women with Ovarian Neoplasms.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Ovarian Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5651309","article_title":"NFAT\u2010regulated cytokine gene expression during tacrolimus therapy early after renal transplantation","article_path":"articles/PMC5651309.md","variant_annotation_id":1448635746,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":28686294,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Dose normalized tacrolimus exposure was decreased in patients with the CT genotype (CYP3A5 *1/*3) (N=5): at baseline, and at 1.5 hours and 1 week post-dosing as compared with the CC (CYP3A5 *3/*3) genotype (n=23, P=0.033).","sentence":"Genotype CT is associated with decreased exposure to tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3640375","article_title":"Age and CYP3A5 genotype affect tacrolimus dosing requirements after transplant in pediatric heart recipients","article_path":"articles/PMC3640375.md","variant_annotation_id":1184514907,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":21930396,"phenotype_category":"Dosage","significance":"yes","notes":"Children with the CYP3A5 *1/*1 or *1/*3 genotype required higher doses (mg/kg/12 hours) of tacrolimus as compared to those with the *3/*3 genotype during the first 14 days after transplant.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased dose of tacrolimus in children with heart transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:heart transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC2896566","article_title":"Effects of SREBF-1a and SCAP polymorphisms on plasma levels of lipids, severity, progression and regression of coronary atherosclerosis and response to therapy with fluvastatin","article_path":"articles/PMC2896566.md","variant_annotation_id":982037057,"variant_haplotypes":"rs12487736","gene":"SCAP","drugs":"fluvastatin","pmid":12436350,"phenotype_category":"Efficacy","significance":"no","notes":"No association was found with lipid levels, progression or regression with genotypes for this polymorphism. Described as SCAP 2386A/G (I796V) - alleles are complemented here for the plus chromosomal strand.","sentence":"Allele T is not associated with response to fluvastatin in people with Coronary Artery Disease as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162732,"variant_haplotypes":"rs1800871","gene":"IL10","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. Authors described association as suggestive in the EA population but it did not survive multiple testing correction. Direction of effect not stated.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4999337","article_title":"A common missense variant in NUDT15 confers susceptibility to thiopurine-induced leukopenia","article_path":"articles/PMC4999337.md","variant_annotation_id":1184514020,"variant_haplotypes":"rs116855232","gene":"NUDT15","drugs":"azathioprine","pmid":25108385,"phenotype_category":"Toxicity","significance":"yes","notes":"As the number of copies of the T allele increased, the dose of azathioprine at which leukopenia occurred decreased. It was lowest in patients with the TT genotype and showed a gene-dose effect in the order of TTA.","sentence":"Genotype AG is associated with increased response to pravastatin in children with Hyperlipoproteinemia Type II as compared to genotype GG.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Hyperlipoproteinemia Type II","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4208722","article_title":"GRIK4 polymorphism and its association with antidepressant response in depressed patients: a meta-analysis","article_path":"articles/PMC4208722.md","variant_annotation_id":1184998157,"variant_haplotypes":"rs1954787","gene":"GRIK4","drugs":"antidepressants","pmid":25303296,"phenotype_category":"Efficacy","significance":"yes","notes":"Meta-analysis combining 5 studies.","sentence":"Genotype CC is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to genotype TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166345,"variant_haplotypes":"rs3761372","gene":null,"drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele T is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373174,"variant_haplotypes":"rs2236256","gene":"OPRM1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not significantly associated with compliance with methadone maintenance therapy or 'negative rate of morphine urine test'.","sentence":"Allele C is not associated with response to methadone in people with Heroin Dependence as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5898372","article_title":"Genotypic and Phenotypic Factors Influencing Drug Response in Mexican Patients With Type 2 Diabetes Mellitus","article_path":"articles/PMC5898372.md","variant_annotation_id":1449310630,"variant_haplotypes":"rs757110","gene":"ABCC8","drugs":"sulfonamides, urea derivatives","pmid":29681852,"phenotype_category":"Efficacy","significance":"yes","notes":"The AC genotype was associated with increased response to sulfonylureas (a greater than or equal to 7% decrease in Hb1Ac levels at least 3 months after beginning treatment).","sentence":"Genotypes AA + CC is associated with increased response to sulfonamides, urea derivatives in people with Diabetes Mellitus as compared to genotype AC.","alleles":"AA + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC","comparison_metabolizer_types":null} +{"pmcid":"PMC4892230","article_title":"CYP2B6*6 and CYP2B6*18 Predict Long-Term Efavirenz Exposure Measured in Hair Samples in HIV-Positive South African Women","article_path":"articles/PMC4892230.md","variant_annotation_id":1448993987,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":26655325,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2B6 *6 is associated with increased concentrations of efavirenz in people with HIV as compared to CYP2B6 *1/*1.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4764723","article_title":"The Impacts of SLC22A1 rs594709 and SLC47A1 rs2289669 Polymorphisms on Metformin Therapeutic Efficacy in Chinese Type 2 Diabetes Patients","article_path":"articles/PMC4764723.md","variant_annotation_id":1447980951,"variant_haplotypes":"rs594709","gene":"SLC22A1","drugs":"metformin","pmid":26977146,"phenotype_category":"Efficacy","significance":"yes","notes":"Looked at changes in the following as measures of metformin response between AA/GA (n=50) and GG genotype (n=3): fasting blood glucose (p=0.112), postprandial blood glucose (p=0.171), fasting insulting (p=0.015), postprandial insulin (p=0.259), glycosylated hemoglobin (p=0.227), triglycerides (p=p=0.434), total cholesterol (p=0.224), low-density lipoprotein (p=0.451), high-density lipoprotein (p=0.399), homeostasis model assessment of insulin resistance (p=0.081), homeostasis model assessment of insulin sensitivity (p=0.001), homeostasis model assessment of B cell function (p=0.493), and quantitative insulin sensitivity check index (p=0.002). Also, found an interaction between this SNP and SLC47A1 rs2289669, with patients with rs594709 AA genotypes and rs2289669 AA genotypes showing higher decrease in FBG (p=0.015), PINS (p=0.041), and HOMA-IR (p-0.014) than patients with rs2289669 GA or GG genotypes. Patients with rs594709 G allele carriers and also rs2289669 AA genotype showed greater decrease in TChol (p=0.013) than GA or GG genotypes.","sentence":"Genotypes AA + AG are associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3604156","article_title":"CYP3A5 Gene Variation Influences Cyclosporine A Metabolite Formation and Renal Cyclosporine Disposition","article_path":"articles/PMC3604156.md","variant_annotation_id":982023222,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"cyclosporine","pmid":23354298,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Increased metabolism was shown by increased area under the concentration-time curve (AUC) from time 0 to infinity (AUC0-infinity, units = ng hr/mL) and increased AUCmetabolite/AUCcyclosporine for the metabolites AM19 and AM1c9. These metabolites are secondary metabolites of cyclosporine, formed through the conversion of the cyclosporine primary metabolites AM1 and AM1c, respectively, by CYP3A5. Increased metabolism was also shown by decreased urinary clearance (CL, units = mL/min) and decreased estimated glomeruler filtration rate-normalized apparent urinary clearance (CL / eGFR) of cyclosporine.","sentence":"Genotypes CC + CT are associated with increased metabolism of cyclosporine in healthy individuals as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC11773121","article_title":"Sub\u2010 and supratherapeutic efavirenz plasma concentrations with risk for HIV therapy failure are mainly genetically explained in Ugandan children: The prospective GENEFA cohort study","article_path":"articles/PMC11773121.md","variant_annotation_id":1452639820,"variant_haplotypes":"rs35303484","gene":"CYP2B6","drugs":"efavirenz","pmid":39380207,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"heterozygosity in CYP2B6 c.136A>G predicted higher loge EFV plasma concentration. The latter SNP occurred in only one participant (id. 79), who despite being predicted as an IM (composite genotype 516GG|983TC), maintained very high EFV plasma levels (across study median of 12\u2009539\u2009ng\u2009mL\u22121, range 11\u2009163\u201323\u2009715\u2009ng\u2009mL\u22121). \"","sentence":"Genotype AG is associated with increased concentrations of efavirenz in children with HIV infectious disease as compared to genotype AA.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC1746721","article_title":"Effects of captopril administration on pulmonary haemodynamics and tissue oxygenation during exercise in ACE gene subtypes in patients with COPD: a preliminary study","article_path":"articles/PMC1746721.md","variant_annotation_id":982042629,"variant_haplotypes":"rs1799752","gene":"ACE","drugs":"captopril","pmid":12832683,"phenotype_category":"Efficacy","significance":"yes","notes":"The ATA.../ATA... genotype is associated with increased mixed venous oxygen tension (PvO2; units = mmHg) and decreased lactate concentration (units = mmol/l) after exercise, as compared to patients with the remaining genotypes. This indicates an increased response to captopril.","sentence":"Genotype ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC is associated with increased response to captopril in men with Pulmonary Disease, Chronic Obstructive as compared to genotypes ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del + del/del.","alleles":"ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Chronic Obstructive Pulmonary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del + del/del","comparison_metabolizer_types":null} +{"pmcid":"PMC7197488","article_title":"Association of Regulatory Genetic Variants for Protein Kinase C \u03b1 with Mortality and Drug Efficacy in Patients with Heart Failure","article_path":"articles/PMC7197488.md","variant_annotation_id":1451133400,"variant_haplotypes":"rs9909004","gene":"PRKCA","drugs":"\"Ace Inhibitors, Plain\", \"Angiotensin II Antagonists\", \"Beta Blocking Agents\"","pmid":31728800,"phenotype_category":"Efficacy","significance":"no","notes":"The authors note that this variant was in strong LD with rs9303504.","sentence":"Allele C is not associated with response to Ace Inhibitors, Plain, Angiotensin II Antagonists or Beta Blocking Agents in people with Heart Failure as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3818406","article_title":"A Single Nucleotide Polymorphism in cBIM Is Associated with a Slower Achievement of Major Molecular Response in Chronic Myeloid Leukaemia Treated with Imatinib","article_path":"articles/PMC3818406.md","variant_annotation_id":1184821109,"variant_haplotypes":"rs724710","gene":"BCL2L11","drugs":"imatinib","pmid":24223824,"phenotype_category":"Efficacy","significance":"yes","notes":"The T allele was also significantly associated with presence of mutations in the kinase domain of the BCR-ABL fusion protein and resistance to tyrosine kinase inhibitors. Response was defined as a ratio of BCR-ABl/ABl of less than or equal to 0.1% by 18 months of treatment with imatinib.","sentence":"Allele T is associated with decreased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4669157","article_title":"HLA-G 3\u2019UTR Polymorphisms Impact the Prognosis of Stage II-III CRC Patients in Fluoropyrimidine-Based Treatment","article_path":"articles/PMC4669157.md","variant_annotation_id":1447678642,"variant_haplotypes":"rs17179101","gene":"HLA-G","drugs":"capecitabine, fluorouracil","pmid":26633805,"phenotype_category":"Efficacy","significance":"no","notes":"The authors examined disease free survival (DFS) as well as overall survival (OS). Neither were significantly associated with any genotype.","sentence":"Genotype AC is not associated with response to capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6745302","article_title":"A functional variant in the serotonin receptor 7 gene (HTR7), rs7905446, is associated with good response to SSRIs in bipolar and unipolar depression","article_path":"articles/PMC6745302.md","variant_annotation_id":1450372702,"variant_haplotypes":"rs7905446","gene":"HTR7","drugs":"atomoxetine, desvenlafaxine, duloxetine, Selective serotonin reuptake inhibitors, venlafaxine","pmid":30874608,"phenotype_category":"Efficacy","significance":"yes","notes":"The TT genotype was associated with non-remission, white the GG and GT genotypes were associated with treatment remission at 6 weeks.; This association was seen with SSRI and SNRI treatment however, the exact drugs used in treatment were not specified.","sentence":"Genotype TT is associated with decreased response to atomoxetine, desvenlafaxine, duloxetine, Selective serotonin reuptake inhibitors or venlafaxine in people with Depression as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1448613490,"variant_haplotypes":"rs12248560","gene":"CYP2C19","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with normalized dose when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together.","sentence":"Allele T is not associated with dose of selumetinib in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5563830","article_title":"Association of ABCB1 Gene Polymorphisms with Efficacy and Adverse Reaction to Risperidone or Paliperidone in Han Chinese Schizophrenic Patients","article_path":"articles/PMC5563830.md","variant_annotation_id":1448604030,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"risperidone","pmid":27456824,"phenotype_category":"Efficacy","significance":"no","notes":"Alleles given as reverse strand C and T. Efficacy measured with reduction in PANSS total score reduced rate.","sentence":"Genotypes AA + AG are associated with increased response to risperidone in people with Schizophrenia as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699034,"variant_haplotypes":"rs10118746","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104860,"variant_haplotypes":"rs1139916","gene":"GABRE","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele A is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451114020,"variant_haplotypes":"rs9479757","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele A is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2920450","article_title":"Laboratory and Clinical Outcomes of Pharmacogenetic vs. Clinical Protocols for Warfarin Initiation in Orthopedic Patients","article_path":"articles/PMC2920450.md","variant_annotation_id":1448267502,"variant_haplotypes":"CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":18662264,"phenotype_category":"Dosage","significance":"not stated","notes":"Generation of an algorithm to predict warfarin dose based on these variants as well as VKORC1 rs9923231 and clinical factors, as well as analyses on the performance of the algorithm vs a clinical algorithm.","sentence":"CYP2C9 *2 + *3 are associated with dose of warfarin.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2959002","article_title":"Possible association of norepinephrine transporter -3081(A/T) polymorphism with methylphenidate response in attention deficit hyperactivity disorder","article_path":"articles/PMC2959002.md","variant_annotation_id":1450376393,"variant_haplotypes":"rs5569","gene":"SLC6A2","drugs":"methylphenidate","pmid":20929549,"phenotype_category":"Efficacy","significance":"no","notes":"ADHD Rating Scale-IV (ARS) and Clinical Global Impression (CGI) were used to assess response.","sentence":"Genotype GG is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4760888","article_title":"Impact of GGCX, STX1B and FPGS Polymorphisms on Warfarin Dose Requirements in European\u2010Americans and Egyptians","article_path":"articles/PMC4760888.md","variant_annotation_id":1447677818,"variant_haplotypes":"rs12714145","gene":"GGCX","drugs":"warfarin","pmid":26751406,"phenotype_category":"Dosage","significance":"no","notes":"in European-Americans, and Egyptians.","sentence":"Genotype CC is not associated with dose of warfarin as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4762902","article_title":"LGR5 rs17109924 is a predictive genetic biomarker for time to recurrence in patients with colon cancer treated with 5-fluorouracil-based adjuvant chemotherapy","article_path":"articles/PMC4762902.md","variant_annotation_id":1446903250,"variant_haplotypes":"rs17109924","gene":"LGR5","drugs":"fluorouracil","pmid":25665511,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients who received 5-fluorouracil-based adjuvant chemotherapy and underwent surgery, who carried at least one C allele, had significantly increased time to tumor recurrence as compared to those with the TT genotype. No association was seen for patients who only underwent surgery (p=0.728; n=208).","sentence":"Genotypes CC + CT is associated with increased response to fluorouracil in people with Colonic Neoplasms as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colonic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449715969,"variant_haplotypes":"rs2302663","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC556232","article_title":"Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin","article_path":"articles/PMC556232.md","variant_annotation_id":613978577,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"carbamazepine","pmid":15805193,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with increased dose of carbamazepine in people with Epilepsy as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7423195","article_title":"Impact of ABCG2 polymorphisms on the clinical outcome and toxicity of gefitinib in non-small-cell lung cancer patients","article_path":"articles/PMC7423195.md","variant_annotation_id":827784391,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"gefitinib","pmid":21332310,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype GG is not associated with increased response to gefitinib in people with Carcinoma, Non-Small-Cell Lung as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5051541","article_title":"Using EHR-Linked Biobank Data to Study Metformin Pharmacogenomics","article_path":"articles/PMC5051541.md","variant_annotation_id":1452726120,"variant_haplotypes":"rs2301759","gene":"STK11","drugs":"metformin","pmid":25991289,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. \"For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome.\" Table 2 shows rs2301759 as top SNP for STK11","sentence":"Allele C is associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC11141156","article_title":"Dose adjustment of paroxetine based on CYP2D6 activity score inferred metabolizer status in Chinese Han patients with depressive or anxiety disorders: a prospective study and cross-ethnic meta-analysis","article_path":"articles/PMC11141156.md","variant_annotation_id":1452484940,"variant_haplotypes":"CYP2D6 ultrarapid metabolizer","gene":"CYP2D6","drugs":"paroxetine","pmid":38776596,"phenotype_category":"Efficacy","significance":"yes","notes":"\"At the 4-week treatment endpoint (Supplementary Table S2), we observed a trend of lower percentage improvement in symptom severity for UMs compared to EMs in the MDD group, after adjusting for predefined demographic covariates (age and sex), which was not statistically significant (multiple linear regression, standardized \u03b2 = \u22120.93, SE = 0.50, P = 0.07). However, in post-hoc analysis, when further adjusting for current episode duration, baseline symptom severity, daily dose, and adjunctive medication status, the effect of UM became marginally statistically significant (standardized \u03b2 = \u22120.98, SE = 0.50, P = 0.049).\"","sentence":"CYP2D6 ultrarapid metabolizer is associated with decreased clinical benefit to paroxetine in people with Depressive Disorder, Major as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC2812115","article_title":"CYP2C9*1B Promoter Polymorphisms, in Linkage with CYP2C19*2, Affect Phenytoin Autoinduction of Clearance and Maintenance Dose","article_path":"articles/PMC2812115.md","variant_annotation_id":769250171,"variant_haplotypes":"rs71486745","gene":"CYP2C9","drugs":"phenytoin","pmid":19855097,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Statistics given for haplotype *1B measured by rs71486745delTG and rs12782374G>A.","sentence":"Genotypes GT/del + del/del are associated with decreased dose of phenytoin in people with Epilepsy as compared to genotype GTGT.","alleles":"GT/del + del/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GTGT","comparison_metabolizer_types":null} +{"pmcid":"PMC4498982","article_title":"Genetic Polymorphism at Val80 (rs700518) of the CYP19A1 Gene is Associated with Body Composition Changes in Women on Aromatase Inhibitors for ER (+) Breast Cancer","article_path":"articles/PMC4498982.md","variant_annotation_id":1444880046,"variant_haplotypes":"rs700518","gene":"CYP19A1","drugs":"Enzyme inhibitors","pmid":26049585,"phenotype_category":"Other","significance":"yes","notes":"Please note the article studied changes in body composition. CC carriers developed a significant increase in truncal fat mass index (P=0.03) and a significant decrease in fat-free mass index (P=0.01) at 12 months compared to CT/TT carriers.","sentence":"Genotype CC is associated with response to Enzyme inhibitors in women with Breast Neoplasms as compared to genotypes CC + CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC2830598","article_title":"Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and FOLFOX response in colorectal cancer patients","article_path":"articles/PMC2830598.md","variant_annotation_id":769166385,"variant_haplotypes":"rs1801131","gene":"MTHFR","drugs":"fluorouracil, leucovorin, oxaliplatin","pmid":20078613,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele G is associated with increased response to fluorouracil, leucovorin and oxaliplatin in people with Colorectal Neoplasms as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2920450","article_title":"Laboratory and Clinical Outcomes of Pharmacogenetic vs. Clinical Protocols for Warfarin Initiation in Orthopedic Patients","article_path":"articles/PMC2920450.md","variant_annotation_id":1448267496,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":18662264,"phenotype_category":"Dosage","significance":"not stated","notes":"Generation of an algorithm to predict warfarin dose based on this rsID as well as CYP2C9*2 and *3 and clinical factors, as well as analyses on the performance of the algorithm vs a clinical algorithm.","sentence":"Allele A is associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340007,"variant_haplotypes":"CYP2C9*1, CYP2C9*5","gene":"CYP2C9","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, CYP2C9*5 allele is associated with 13.4mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"CYP2C9 *1/*5 is associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC11022290","article_title":"Influence of novel CYP2C\u2010haplotype on proton pump inhibitor pharmacokinetics in children","article_path":"articles/PMC11022290.md","variant_annotation_id":1452452600,"variant_haplotypes":"rs2860840","gene":"CYP2C18","drugs":"lansoprazole, pantoprazole","pmid":38629502,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"This detailed PK analysis of 45 children who received one or more of the three study PPIs (oral pantoprazole, IV pantoprazole, oral lansoprazole) at different study visits found the CYP2C:TG haplotype to have no measurable impact on CYP2C19\u2010mediated metabolism of PPIs in vivo\" The unofficial haplotype CYP2C:TG comprises rs2860840T and rs11188059G.","sentence":"Allele T is not associated with increased metabolism of lansoprazole or pantoprazole in children as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC8702453","article_title":"Comprehensive characterization of pharmacogenetic variants in TPMT and NUDT15 in children with acute lymphoblastic leukemia","article_path":"articles/PMC8702453.md","variant_annotation_id":1451725060,"variant_haplotypes":"rs73189762","gene":"NUDT15","drugs":"mercaptopurine","pmid":34412101,"phenotype_category":"Dosage","significance":"yes","notes":"This was only significant in the discovery cohort and not the validation cohort. The discovery cohort had one TT homozygote, the validation had zero (supplemental figures). Note, the variant is approximately 50kb downstream of the coding region of NUDT15.","sentence":"Allele T is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3530397","article_title":"GENOMIC ASSOCIATION ANALYSIS IDENTIFIES MULTIPLE LOCI INFLUENCING ANTIHYPERTENSIVE RESPONSE TO AN ANGIOTENSIN II RECEPTOR BLOCKER","article_path":"articles/PMC3530397.md","variant_annotation_id":827921929,"variant_haplotypes":"rs3758785","gene":"GPR83","drugs":"hydrochlorothiazide","pmid":22566498,"phenotype_category":"Efficacy","significance":"yes","notes":"Heterozygotes had intermediate response and pattern was the same for both SBP and DBP.","sentence":"Genotype GG is associated with decreased response to hydrochlorothiazide in people with essential hypertension as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Efficacy:essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC9373641","article_title":"The effect of alpha-2A adrenergic receptor (ADRA2A) genetic polymorphisms on the depth of sedation of dexmedetomidine: a genetic observational pilot study","article_path":"articles/PMC9373641.md","variant_annotation_id":1451445120,"variant_haplotypes":"rs2484516","gene":"ADRA2A","drugs":"dexmedetomidine","pmid":33915198,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Genotype CC is not associated with dose of dexmedetomidine in men as compared to genotype CG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG","comparison_metabolizer_types":null} +{"pmcid":"PMC6595468","article_title":"Relevance of CYP2B6 and CYP2D6 genotypes to methadone pharmacokinetics and response in the OPAL study","article_path":"articles/PMC6595468.md","variant_annotation_id":1450374121,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"(S)-methadone","pmid":30907440,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Significance was lost following multivariate analysis.","sentence":"Genotypes GT + TT are associated with increased concentrations of (S)-methadone in people with Opioid-Related Disorders as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729123,"variant_haplotypes":"rs2279342","gene":"CYP2B6","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes AT + TT is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype AA.","alleles":"AT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981793996,"variant_haplotypes":"rs9937","gene":"RRM1","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AA genotype had shorter progression free survival than patients with either the AG or the GG genotype. However, tumor response to therapy did not significantly differ between genotype groups. This study presented this SNP as rs3177016, but dbSNP has merged that rsID with rs9937. There were four SNPs in this study that, when taken together, affected progression free survival: rs183484, rs2072671, rs760370, and rs9937. Using patients with 0 or 1 variant as reference, patients with 2 variants had an increased HR of 1.79 (P = 0.004) and patients with 3-4 variants has an increased HR of 3.25 (P < 0.001).","sentence":"Genotype AA is associated with decreased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5346878","article_title":"Tacrolimus dose requirements in paediatric renal allograft recipients are characterized by a biphasic course determined by age and bone maturation","article_path":"articles/PMC5346878.md","variant_annotation_id":1449171398,"variant_haplotypes":"rs1057868","gene":"POR","drugs":"tacrolimus","pmid":27966227,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Dose-corrected tacrolimus exposure (AUC0-12/doseBW).","sentence":"Genotype CC is not associated with concentrations of tacrolimus in children with Kidney Transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376618,"variant_haplotypes":"rs6813183","gene":"ADGRL3","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele C.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4833150","article_title":"Genetic markers in CYP2C19 and CYP2B6 for prediction of cyclophosphamide's 4\u2010hydroxylation, efficacy and side effects in Chinese patients with systemic lupus erythematosus","article_path":"articles/PMC4833150.md","variant_annotation_id":1446907621,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"cyclophosphamide","pmid":26456622,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The plasma concentration of cyclophosphamide (CPA) 20 hours post dose (C20h) was not significantly different between genotypes, but plasma concentrations of the CPA metabolite of 4-OH-CPA was significantly influenced by CYP2B6 -750T>C and CYP2C19*2 genotype (p<0.001). Patients with CYP2C19 *1/*1 genotype had much higher 4-OH-CPA concentrations compared to CYP2C19*1/*2 or *2*2 genotype.","sentence":"Allele A is associated with decreased metabolism of cyclophosphamide in people with Lupus erythematosus as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lupus erythematosus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680725,"variant_haplotypes":"rs28399454","gene":"CYP2A6","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles presented as G and A","sentence":"Genotype CC is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5402961","article_title":"The novel carboxylesterase 1 variant c.662A>G may decrease the bioactivation of oseltamivir in humans","article_path":"articles/PMC5402961.md","variant_annotation_id":1448994861,"variant_haplotypes":"rs200707504","gene":"CES1","drugs":"oseltamivir","pmid":28437488,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotype CT is associated with increased concentrations of oseltamivir in healthy individuals as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3818912","article_title":"META-ANALYSIS OF CYP2D6 METABOLIZER PHENOTYPE AND METOPROLOL PHARMACOKINETICS","article_path":"articles/PMC3818912.md","variant_annotation_id":1452643560,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"metoprolol","pmid":23665868,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Subjects with a gene duplication resulting in more than two active CYP2D6 alleles (i.e., defined as *1, *2, *33, and *35) were classified as UMs. Subjects with two null alleles (i.e.,*3-*8, *11-*16, *19, *20, *21, *38, *40, *42, *44, *56, and *62) in a homozygous variant or compound heterozygous manner was classified as PM phenotype. \"Pooled analysis (n= 264) demonstrated differences in peak plasma metoprolol concentration, area under the concentration-time curve, elimination half-life, and apparent oral clearance that were 2.3-, 4.9-, 2.3-, and 5.9-fold between extensive and poor metabolizers, respectively, and 5.3-, 13-, 2.6-, and 15-fold between ultra-rapid and poor metabolizers (all p<0.001). \"","sentence":"CYP2D6 poor metabolizer is associated with decreased metabolism of metoprolol as compared to CYP2D6 ultrarapid metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"ultrarapid metabolizer"} +{"pmcid":"PMC4480925","article_title":"A Randomized Placebo-controlled Trial to Test a Genetically-informed Biomarker ForPersonalizing Treatment for Tobacco Dependence","article_path":"articles/PMC4480925.md","variant_annotation_id":1447983802,"variant_haplotypes":"CYP2A6 normal metabolizer","gene":"CYP2A6","drugs":"varenicline","pmid":25588294,"phenotype_category":"Efficacy","significance":"yes","notes":"as compared to nicotine patch. Subjects were assigned to CYP2A6 metabolizer groups (as slow, or poor and as normal, or extensive), which was based on nicotine metabolite ratio (NMR) to 11 weeks of placebo (pill and patch), nicotine patch (active patch, placebo pill), or varenicline (active pill, placebo patch) and behavioral counseling. Intention to treat analysis found that varenicline was better at maintaining tobacco abstinence 7 days after treatment in the extensive metabolizer group as compared to the slow metabolizer group. Poor metabolizers also reported greater severity of adverse events as compared to extensive metabolizers. Subjects treated at UPenn C. for Addiction and Mental Health, Toronto, SUNY Buffalo, MD Anderson Cancer Center.","sentence":"CYP2A6 normal metabolizer is associated with increased response to varenicline in people with Tobacco Use Disorder as compared to CYP2A6 poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"poor metabolizer"} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479807,"variant_haplotypes":"rs2525557","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3508798","article_title":"Possible effect of norepinephrine transporter polymorphisms on methylphenidate-induced changes in neuropsychological function in attention-deficit hyperactivity disorder","article_path":"articles/PMC3508798.md","variant_annotation_id":1450376415,"variant_haplotypes":"rs5569","gene":"SLC6A2","drugs":"methylphenidate","pmid":22591463,"phenotype_category":"Efficacy","significance":"not stated","notes":"After 8 weeks of treatment with methylphenidate, subjects with the G/ G genotype at the G1287A polymorphism showed more improvement in the mean omission error scores (p = 0.006) than those with the A/G or A/A genotypes. Subjects with the G/G genotype showed the greatest decrease in omission errors. Test of variables of attention (TOVA) described as continuous performance test (CPT).","sentence":"Genotype GG is associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5862636","article_title":"Integrated analysis of genetic variation and gene expression reveals novel variant for increased warfarin dose requirement in African Americans","article_path":"articles/PMC5862636.md","variant_annotation_id":1448573256,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*5, CYP2C9*8, CYP2C9*11","gene":"CYP2C9","drugs":"warfarin","pmid":28135054,"phenotype_category":"Dosage","significance":"yes","notes":"in African American patients. CYP2C9 star alleles were grouped together for analysis ( CYP2C9*2, *3, *5, *8, *11).","sentence":"CYP2C9 *2 + *3 + *5 + *8 + *11 are associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*2 + *3 + *5 + *8 + *11","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449558004,"variant_haplotypes":"rs1901633","gene":null,"drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1448519749,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate, overall survival or time to progression in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3476140","article_title":"Association study between clinical response to rizatriptan and some candidate genes","article_path":"articles/PMC3476140.md","variant_annotation_id":1452551186,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"rizatriptan","pmid":17563839,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders to rizatriptan.","sentence":"SLC6A4 HTTLPR long form (L allele) is not associated with response to rizatriptan in people with Migraine without Aura as compared to SLC6A4 HTTLPR short form (S allele).","alleles":"HTTLPR long form (L allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR short form (S allele)","comparison_metabolizer_types":null} +{"pmcid":"PMC4425504","article_title":"Association between Polymorphisms in Vascular Endothelial Growth Factor Gene and Response to Chemotherapies in Colorectal Cancer: A Meta-Analysis","article_path":"articles/PMC4425504.md","variant_annotation_id":1444842399,"variant_haplotypes":"rs2010963","gene":"VEGFA","drugs":"bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin, oxaliplatin","pmid":25955730,"phenotype_category":"Efficacy","significance":"no","notes":"Response was determined by RECIST criteria. In a subgroup analysis excluding the use of anti-angiogenic agents (e.g. bevacuzimab) no significant association was found for any genotypes and response to chemotherapy.","sentence":"Allele G is not associated with response to bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin and oxaliplatin in people with Colorectal Neoplasms as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4731723","article_title":"TOLLIP, MUC5B, and the Response to N-Acetylcysteine among Individuals with Idiopathic Pulmonary Fibrosis","article_path":"articles/PMC4731723.md","variant_annotation_id":1447982668,"variant_haplotypes":"rs5743894","gene":"TOLLIP","drugs":"acetylcysteine","pmid":26331942,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical endpoints included death, transplant, hospitalization, or FVC decline, and risk was adjusted for age, sex, prednisone use, azathioprine use, FVC, diffusion capacity of the lung, and trial/center. Alleles given on reverse strand A and G.","sentence":"Genotype TT is not associated with response to acetylcysteine in people with Pulmonary Fibrosis as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pulmonary Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3890033","article_title":"Association of single nucleotide polymorphisms in MTHFR and ABCG2 with the different efficacy of first-line chemotherapy in metastatic colorectal cancer","article_path":"articles/PMC3890033.md","variant_annotation_id":1184747580,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"antineoplastic agents","pmid":24338217,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in response rate or progression-free survival time was seen between the genotypes. Patients were either receiving FOLFOX/XELOX or FOLFIRI regimens (respectively: fluorouracil, leucovorin, oxaliplatin; capecitabine, oxaliplatin; fluorouracil, leucovorin, irinotecan). Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with response to antineoplastic agents in people with Colorectal Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4661296","article_title":"The Influence of C3435T Polymorphism of the ABCB1 Gene on Genetic Susceptibility to Depression and Treatment Response in Polish Population - Preliminary Report","article_path":"articles/PMC4661296.md","variant_annotation_id":1447676729,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"agomelatine, Melatonin receptor agonists, Selective serotonin reuptake inhibitors, venlafaxine","pmid":26664259,"phenotype_category":"Efficacy","significance":"yes","notes":"Effectiveness of therapy assessed by change in HDRS score. Patients were treated with either SSRIs alone, SSRI with another antidepressant, venlafaxine of serotonin and norepinephrine reuptake inhibitors, venlafaxine with another antidepressant, agomelatine, or a combination of other antidepressants.","sentence":"Genotype GG is associated with increased response to agomelatine, Melatonin receptor agonists, Selective serotonin reuptake inhibitors or venlafaxine in people with Depressive Disorder as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166147,"variant_haplotypes":"rs9032","gene":"STRBP","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6179259","article_title":"KIF6 gene as a pharmacogenetic marker for lipid-lowering effect in statin treatment","article_path":"articles/PMC6179259.md","variant_annotation_id":1449748095,"variant_haplotypes":"rs20455","gene":"KIF6","drugs":"atorvastatin, rosuvastatin, simvastatin","pmid":30304062,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotype GG is associated with decreased response to atorvastatin, rosuvastatin or simvastatin in people with Hypercholesterolemia as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6426691","article_title":"Genome-wide association analysis of common genetic variants of resistant hypertension","article_path":"articles/PMC6426691.md","variant_annotation_id":1451100040,"variant_haplotypes":"rs6487504","gene":null,"drugs":"Antihypertensives","pmid":30237584,"phenotype_category":"Efficacy","significance":"no","notes":"The T allele was associated with increased odds of a patient developing resistant-hypertension. Participants were classified as having resistant hypertension if their SBP was \u2265140 or DBP \u2265 90 using three or more medications, or if they were using four or greater antihypertensive medications regardless of BP. However, this SNP failed to reach genome-wide significance in either the INVEST or SPS3 cohorts or when both cohorts were combined. Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is associated with decreased response to Antihypertensives in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2855513","article_title":"RRM1 single nucleotide polymorphism -37C\u2192A correlates with progression-free survival in NSCLC patients after gemcitabine-based chemotherapy","article_path":"articles/PMC2855513.md","variant_annotation_id":1184175254,"variant_haplotypes":"rs1042858","gene":"RRM1","drugs":"carboplatin, gemcitabine","pmid":20226083,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype AA is not associated with response to carboplatin and gemcitabine in people with Carcinoma, Non-Small-Cell Lung as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5606007","article_title":"Novel variants in NUDT15 and thiopurine intolerance in children with acute lymphoblastic leukemia from diverse ancestry","article_path":"articles/PMC5606007.md","variant_annotation_id":1448635204,"variant_haplotypes":"NUDT15*1, NUDT15*2","gene":"NUDT15","drugs":"mercaptopurine","pmid":28659275,"phenotype_category":"Dosage, Toxicity","significance":"no","notes":"One East Asian patient in Singapore was compound heterozygous for rs554405994insGACTCC and rs116855232C>T (corresponding to NUDT15 *2) as well as p.K35E; c.103A>G, which has no rsID. He was very sensitive to mercaptopurine with tolerated dosage of 8.5 mg/m2/day.","sentence":"NUDT15 *1/*2 is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to NUDT15 *1/*1.","alleles":"*1/*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928129,"variant_haplotypes":"rs362306","gene":"HTT","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"The A allele was initially significantly more frequent in patients designated as non-responders to risperidone (i.e. <50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.","sentence":"Allele A is associated with decreased response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2908290","article_title":"Influence of pharmacogenetics on indinavir disposition and short-term response in HIV patients initiating HAART","article_path":"articles/PMC2908290.md","variant_annotation_id":608178494,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"indinavir","pmid":19440701,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"treated with indinavir and a ritonavir booster","sentence":"Genotype CC is associated with decreased metabolism of indinavir in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2564574","article_title":"Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation","article_path":"articles/PMC2564574.md","variant_annotation_id":982044373,"variant_haplotypes":"rs17708472","gene":"VKORC1","drugs":"warfarin","pmid":16611750,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with increased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4788379","article_title":"PTPRD gene associated with blood pressure response to atenolol and resistant hypertension","article_path":"articles/PMC4788379.md","variant_annotation_id":1446902855,"variant_haplotypes":"rs1104514","gene":null,"drugs":"atenolol","pmid":26425837,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele of this SNP was associated with better DBP response to atenolol, but with less pronounced response to hydrochlorothiazide in white patients.","sentence":"Genotypes AA + AG are associated with increased response to atenolol in people with Hypertension as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4169411","article_title":"Thymidylate Synthase Genotype-Directed Chemotherapy for Patients with Gastric and Gastroesophageal Junction Cancers","article_path":"articles/PMC4169411.md","variant_annotation_id":1184886844,"variant_haplotypes":"rs45445694","gene":"TYMS","drugs":"fluorouracil, leucovorin, oxaliplatin","pmid":25232828,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients homozygous for the 2 tandem repeat genotype (*2/*2) had higher rate of progressive response (a decrease of >30% of the longest diameter of lesions) and a lower rate of stable disease (no change in lesion diameter) as compared to patients heterozygous for the 2 and 3 tandem repeat genotype (*2/*3). Overall survival (OS) and progression free survival (PFS) was different between the two groups but not in a statistically significant manner (*2/*2 OS 20.9 months, PFS 10.2 months and *2/*3 OS 11.4 months and PFS 6.0 months).","sentence":"Genotype (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 is associated with increased response to fluorouracil, leucovorin and oxaliplatin in people with Esophageal Neoplasms and Stomach Neoplasms as compared to genotype (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3.","alleles":"(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasm of esophagus, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3","comparison_metabolizer_types":null} +{"pmcid":"PMC11022290","article_title":"Influence of novel CYP2C\u2010haplotype on proton pump inhibitor pharmacokinetics in children","article_path":"articles/PMC11022290.md","variant_annotation_id":1452452605,"variant_haplotypes":"rs11188059","gene":"CYP2C18","drugs":"lansoprazole, pantoprazole","pmid":38629502,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"This detailed PK analysis of 45 children who received one or more of the three study PPIs (oral pantoprazole, IV pantoprazole, oral lansoprazole) at different study visits found the CYP2C:TG haplotype to have no measurable impact on CYP2C19\u2010mediated metabolism of PPIs in vivo\" The unofficial haplotype CYP2C:TG comprises rs2860840T and rs11188059G.","sentence":"Allele G is not associated with increased metabolism of lansoprazole or pantoprazole in children as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5734971","article_title":"Genetic Analysis of Mu and Kappa Opioid Receptor and COMT Enzyme in Cancer Pain Tunisian Patients Under Opioid Treatment","article_path":"articles/PMC5734971.md","variant_annotation_id":1449182322,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"morphine","pmid":29259946,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"No association was observed between this variant and a patient's initial dose requirement or their need to escalate their dose of morphine.","sentence":"Allele G is not associated with dose of morphine in people with Pain as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4890827","article_title":"A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration","article_path":"articles/PMC4890827.md","variant_annotation_id":1446907760,"variant_haplotypes":"rs2229935","gene":"NRP1","drugs":"ranibizumab","pmid":26426212,"phenotype_category":"Efficacy","significance":"no","notes":"Response was measured as change in visual acuity after 3 months of treatment in patients who received three monthly ranibizumab injections.","sentence":"Allele G is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4292894","article_title":"Genetic variation in the UGT1A locus is associated with simvastatin efficacy in a clinical practice setting","article_path":"articles/PMC4292894.md","variant_annotation_id":1296666974,"variant_haplotypes":"rs2003569","gene":"UGT1A9","drugs":"simvastatin","pmid":25493567,"phenotype_category":"Efficacy","significance":"yes","notes":"The mean Emax (maximum decrease in LDL-C) was 59.3 \u00b1 23.0, 62.0 \u00b1 22.4, and 69.7 \u00b1 24.8 mg/dl, for patients with 0, 1 or 2 copies of the minor A allele. The difference in response was greater in African-Americans than in European Americans when stratified by race.","sentence":"Allele A is associated with increased response to simvastatin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC9820603","article_title":"Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks","article_path":"articles/PMC9820603.md","variant_annotation_id":1452569981,"variant_haplotypes":"rs1800587","gene":"IL1A","drugs":"almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan, zolmitriptan","pmid":36614097,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with clinical benefit to almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan or zolmitriptan in people with Migraine without Aura as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4865408","article_title":"CES1P1 variant \u2212816A>C is not associated with hepatic carboxylesterase 1 expression, activity or antihypertensive effect of trandolapril","article_path":"articles/PMC4865408.md","variant_annotation_id":1447979801,"variant_haplotypes":"rs3785161","gene":"CES1P1","drugs":"trandolapril","pmid":26915813,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to trandolapril in people with Hypertension as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3894627","article_title":"Genetic Determinants of Response to Warfarin during Initial Anticoagulation","article_path":"articles/PMC3894627.md","variant_annotation_id":1450980643,"variant_haplotypes":"rs8050894","gene":"VKORC1","drugs":"warfarin","pmid":18322281,"phenotype_category":"Dosage","significance":"yes","notes":"With *1/*2 (CG) requiring intermediate dose. This was most marked at day 28 to end of follow-up with average doses of 3.66mg/day for *2*2 (HaplotypeA/HaplotypeA\"), 4.45mg/day for HaplotypeA/nonA and 5.68mg/day for nonA/nonA. Authors also used rs9923231, rs2884737, rs9934438; , and rs2359612 to define HaplotypeA.","sentence":"Genotype GG is associated with decreased dose of warfarin as compared to genotype CC.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4956330","article_title":"Prediction of Warfarin Dose in Pediatric Patients: An Evaluation of the Predictive Performance of Several Models","article_path":"articles/PMC4956330.md","variant_annotation_id":1448255577,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":27453700,"phenotype_category":"Dosage","significance":"not stated","notes":null,"sentence":"CYP2C9 *2 is associated with dose of warfarin in children with Heart Diseases as compared to CYP2C9 *1.","alleles":"*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238732,"variant_haplotypes":"rs11100483","gene":"MAML3","drugs":"perphenazine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele A is associated with response to perphenazine in people with Schizophrenia.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677450,"variant_haplotypes":"rs2289105","gene":"CYP19A1","drugs":"hdl cholesterol","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole and lipid lowering agents (LLA), such as statins. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with decreases in HDL-cholesterol of 6.2 mg/dL (SE 1.6).","sentence":"Allele T is associated with decreased concentrations of hdl cholesterol in women with Breast Neoplasms and Menopause as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10327396","article_title":"The impact of ABCB1, CYP3A4/5 and ABCG2 gene polymorphisms on rivaroxaban trough concentrations and bleeding events in patients with non-valvular atrial fibrillation","article_path":"articles/PMC10327396.md","variant_annotation_id":1452149926,"variant_haplotypes":"rs4728709","gene":"ABCB1","drugs":"rivaroxaban","pmid":37420302,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"no AA homozygotes were observed.","sentence":"Genotype GG is associated with increased dose-adjusted trough concentrations of rivaroxaban in people with Atrial Fibrillation as compared to genotype AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4002970","article_title":"IGF2BP2 variations influence repaglinide response and risk of type 2 diabetes in Chinese population","article_path":"articles/PMC4002970.md","variant_annotation_id":981502261,"variant_haplotypes":"rs1470579","gene":"IGF2BP2","drugs":"repaglinide","pmid":20523342,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"The parameters that showed decreased response were FPG(fasting plasma glucose) and PPG(postprandial plasma glucose). The authors noted that the C allele frequency was higher in the Type 2 Diabetes patients than in the healthy controls when the entire trial population of 350 patients and 207 controls was assayed (C freq = 0.3029 vs 0.2464) . The subset of patients treated with repaglinide all had the same CYP2C8 genotypes(with respect to *3- but exact genotypes not given) and SLCO1B1 genotypes(with respect to *1B,*5 and *15, but exact genotypes not given) .","sentence":"Genotypes AC + CC are associated with decreased response to repaglinide in people with Diabetes Mellitus, Type 2 as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC10880264","article_title":"Pharmacogenetic Factors Influence Escitalopram Pharmacokinetics and Adverse Events in Youth with a Family History of Bipolar Disorder: A Preliminary Study","article_path":"articles/PMC10880264.md","variant_annotation_id":1452390346,"variant_haplotypes":"CYP2C19 intermediate metabolizer","gene":"CYP2C19","drugs":"escitalopram","pmid":38377518,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CPIC guidelines used to assign CYP2C19 metabolizer phenotypes based on CYP2C19: *1, *2,*3, *4, *5, *6, *7, *8, *17. \"CYP2C19 metabolizer phenotype had a significant effect on the dose-normalized AUC0\u201324 (p\u2009=\u20090.025), Ctrough (p\u2009=\u20090.013), and t1/2 (p\u2009=\u20090.0008) of escitalopram (Fig. 1).\u201d \"CYP2C19 metabolizer phenotypes were almost exclusively rapid metabolizer (RM n\u2009=\u200917), normal metabolizer (NM n\u2009=\u200931), or intermediate metabolizer (IM n\u2009=\u200917), with only one ultrarapid metabolizer (UM) and no poor metabolizers (PMs).\"","sentence":"CYP2C19 intermediate metabolizer is associated with increased dose-adjusted trough concentrations of escitalopram in children with Depression or Anxiety Disorders as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Depression, Other:Anxiety Disorders","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114801,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and virologic suppression in patients treated with lopinavir/ritonavir. Variant referred to in the paper as A6986G.","sentence":"Allele C is not associated with response to lopinavir or ritonavir in children with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5354739","article_title":"Pharmacogenetic analysis of high-dose methotrexate treatment in children with osteosarcoma","article_path":"articles/PMC5354739.md","variant_annotation_id":1449188665,"variant_haplotypes":"rs3740066","gene":"ABCC2","drugs":"methotrexate","pmid":27566582,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Concentrations refers to area under the concentration time curve (0-48hrs)","sentence":"Genotype TT is associated with decreased concentrations of methotrexate in children with Osteosarcoma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC1364741","article_title":"The pharmacokinetics of ondansetron after intravenous injection in healthy volunteers phenotyped as poor or extensive metabolisers of debrisoquine","article_path":"articles/PMC1364741.md","variant_annotation_id":1446896329,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"ondansetron","pmid":8018461,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Cmax, AUC, plasma clearance (calculated from Dose/AUC) and half-life were measured with no significant differences in any category between poor and extensive metabolizers. Metabolizer status had been previously determined using oral debrisoquine as the substrate probe. No genotyping or genetics was used in this study.","sentence":"CYP2D6 poor metabolizer is not associated with decreased metabolism of ondansetron in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC1754569","article_title":"Genetic markers for the efficacy of tumour necrosis factor blocking therapy in rheumatoid arthritis","article_path":"articles/PMC1754569.md","variant_annotation_id":1444668176,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"etanercept","pmid":12759288,"phenotype_category":"Efficacy","significance":"yes","notes":"When this genotype is combined with the rs1800896 CC genotype. Those with the GG-CC combination genotype were more likely to be responders to treatment, as compared to those with any other combination of genotypes. However, no significant difference in genotype frequencies was seen between responders and non-responders when considering the rs1800629 or 1800896 SNPs alone. Responders defined using the American College of Rheumatology (ACR) response criteria and response criteria based on the modified disease activity score (DAS)28 index. Non-responders failed to fulfill both these criteria.","sentence":"Genotype GG is associated with increased response to etanercept in people with Arthritis, Rheumatoid as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3579261","article_title":"Population pharmacokinetics of unbound mycophenolic acid in adult allogeneic haematopoietic cell transplantation: effect of pharmacogenetic factors","article_path":"articles/PMC3579261.md","variant_annotation_id":1448107184,"variant_haplotypes":"rs17868320","gene":"UGT1A9","drugs":"mycophenolic acid","pmid":22765258,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotype CC is not associated with any pharmacokinetic parameters measured in the study when exposed to mycophenolic acid as compared to genotype TT.","sentence":"Genotype CC is not associated with metabolism of mycophenolic acid as compared to genotype TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4651007","article_title":"The Effect Of Alcohol Priming On Neural Markers Of Alcohol Cue-Reactivity","article_path":"articles/PMC4651007.md","variant_annotation_id":1450823384,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":26125586,"phenotype_category":"Other","significance":"not stated","notes":"MRI study. Subjects carrying the G allele showed increased pre- vs. post-priming alcohol cue reactivity activation in the left caudate, thalamus, putamen, and bilateral supramarginal gyrus and parietal operculum cortex compared to subjects with the AA genotype.","sentence":"Genotypes AG + GG are associated with increased response to ethanol in people with Alcoholism as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3244642","article_title":"Dosing equation for tacrolimus using genetic variants and clinical factors","article_path":"articles/PMC3244642.md","variant_annotation_id":1184515001,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":21671989,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Patients carrying at least one CYP3A5*1 allele had lower trough tacrolimus levels than CYP3A5*3/*3 carriers at 2, 4, 6, 8, 10, 12, 14, 16, 18, 20, 22 and 24 week post-transplantation. Compared to CYP3A5*3/*3 carriers, CL/F was increased by 69% in CYP3A5*1/*3 carriers, and increased by 100 in CYP3A5*1/*1 carriers. Other factors affecting tacrolimus CL/F were days post transplant, transplantation at a steroid sparing center, recipient's age and the use of calcium channel blockers.","sentence":"Allele T is associated with increased metabolism of tacrolimus in people with Kidney Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2757655","article_title":"Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European American and African Americans","article_path":"articles/PMC2757655.md","variant_annotation_id":1447519677,"variant_haplotypes":"rs8050894","gene":"VKORC1","drugs":"warfarin","pmid":18466099,"phenotype_category":"Dosage","significance":"yes","notes":"in European Americans.","sentence":"Genotypes CG + GG are associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171059,"variant_haplotypes":"rs8192709","gene":"CYP2B6","drugs":"S-EDDP","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype CT is associated with increased concentrations of (S)-EDDP as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375658,"variant_haplotypes":"rs76979899","gene":"ABCG2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele T is associated with decreased response to allopurinol as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4111883","article_title":"Characterisation of the Clinical Pharmacokinetics of Actinomycin D and the Influence of ABCB1 Pharmacogenetic Variation on Actinomycin D Disposition in Children with Cancer","article_path":"articles/PMC4111883.md","variant_annotation_id":1445296351,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"dactinomycin","pmid":24968986,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in actinomycin D clearance was seen between the genotypes (AA, AG, GG). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with clearance of dactinomycin in children with Neoplasms as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2480976","article_title":"UGT1A1*28 genotype and irinotecan dosage in patients with metastatic colorectal cancer: a Dutch Colorectal Cancer Group study","article_path":"articles/PMC2480976.md","variant_annotation_id":1451206740,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan","pmid":18594531,"phenotype_category":"Dosage","significance":"no","notes":"No significant difference was seen in median total irinotecan dose received over all cycles (g/m2), or in frequency of reductions in irinotecan dose after treatment cycle 1 between the genotypes in patients were treated with irinotecan monotherapy or irinotecan plus capecitabine.","sentence":"UGT1A1 *1/*28 + *28/*28 are not associated with dose of irinotecan in people with Colorectal Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28 + *28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC11082567","article_title":"The Association Between Clozapine Plasma Concentration, CYP2D6 (*10, *2) Polymorphisms and Risk of Adverse Reactions","article_path":"articles/PMC11082567.md","variant_annotation_id":1452487100,"variant_haplotypes":"rs1065852","gene":"CYP2D6","drugs":"clozapine","pmid":38765922,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"Compared with the corresponding groups, the clozapine plasma concentrations of individuals with the *10TT genotype and individuals with the *2CC genotype were the highest (P < .05). \"","sentence":"Genotype AA is associated with increased concentrations of clozapine in people with Schizophrenia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238713,"variant_haplotypes":"rs17570753","gene":"MCPH1","drugs":"perphenazine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele A is associated with response to perphenazine in people with Schizophrenia.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4488893","article_title":"Drug Metabolizing Enzyme and Transporter Gene Variation, Nicotine Metabolism, Prospective Abstinence, and Cigarette Consumption","article_path":"articles/PMC4488893.md","variant_annotation_id":1447984289,"variant_haplotypes":"rs4803381","gene":"CYP2A6","drugs":"nicotine","pmid":26132489,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In the discovery stage: Participants derived from 1) the PKTWIN study and 2) the SMOFAM studyBoth were assessed for nicotine metabolite ratio (NMR) which was used as a biomarker of CYP2A6 activity. Nominally significant SNPs in the discovery stage were tested in the validation stage. Validation stage participants were self-identified White participants from 8 clinical trials of smoking cessation therapies conducted in six US sites.","sentence":"Allele T is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5098919","article_title":"Association of Cytochrome P450 Genetic Variants with Clopidogrel Resistance and Outcomes in Acute Ischemic Stroke","article_path":"articles/PMC5098919.md","variant_annotation_id":1447949716,"variant_haplotypes":"rs17110453","gene":"CYP2C8","drugs":"clopidogrel","pmid":26961113,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotypes AC + CC is not associated with resistance to clopidogrel in people with Stroke as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Stroke","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC2901912","article_title":"CYP2C9 Genotype and Pharmacodynamic Responses to Losartan in Patients with Primary and Secondary Kidney Diseases","article_path":"articles/PMC2901912.md","variant_annotation_id":1183490976,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"losartan","pmid":19669737,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with secondary kidney diseases carrying CYP2C9 variant alleles (*2 or *3) showed increases in blood pressure (both systolic and diastolic) as compared to patients with the *1/*1 genotype. A nonsignificant trend towards improved urinary protein excretion was seen in patients with primary kidney diseases with the *1/*1 genotype as compared to patients carrying variant alleles (*2 or *3).","sentence":"CYP2C9 *1/*2 is associated with decreased response to losartan in people with Kidney Diseases as compared to CYP2C9 *1/*1.","alleles":"*1/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3753327","article_title":"Warfarin Anticoagulant Therapy: A Southern Italy Pharmacogenetics-Based Dosing Model","article_path":"articles/PMC3753327.md","variant_annotation_id":1183697690,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":23990957,"phenotype_category":"Dosage","significance":"yes","notes":"A gene-dose effect was seen in that dose of warfarin decreased with the presence of the T allele: CC>CT>TT. When studied together with CYP2C9, patients carrying variants in both genes needed between 34.8% and 84% of the dose needed for patients wildtype for both genes.","sentence":"Genotype TT is associated with decreased dose of warfarin in people with Cardiovascular Diseases as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC6005582","article_title":"Population pharmacokinetics of voriconazole and CYP2C19 polymorphisms for optimizing dosing regimens in renal transplant recipients","article_path":"articles/PMC6005582.md","variant_annotation_id":1449275114,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"voriconazole","pmid":29607533,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"106 patients were prospectively included in a population PK analysis. Non-linear mixed effect models were used and dosing simulations were performed based on the final model. A one-compartment model with first-order absorption and elimination was used to characterize voriconazole pharmacokinetics. CYP2C19 genotype had a significant effect on the clearance. Voriconazole trough concentrations in poor metabolizers were significantly higher than in both intermediate metabolizers and extensive metabolizers.","sentence":"CYP2C19 *2 + *3 is associated with increased concentrations of voriconazole in people with Kidney Transplantation as compared to CYP2C19 *1.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC10527451","article_title":"Population Pharmacokinetics, Pharmacodynamics, and Pharmacogenetics Modeling of Oxypurinol in Hmong Adults with Gout and/or Hyperuricemia","article_path":"articles/PMC10527451.md","variant_annotation_id":1452106230,"variant_haplotypes":"rs505802","gene":"SLC22A12","drugs":"allopurinol","pmid":37202871,"phenotype_category":"Dosage","significance":"not stated","notes":"\"Most individuals with both PDZK1 rs12129861 AA and SLC22A12 rs505802 CC genotypes achieve target SU (with at least 75% success rate) with allopurinol below the maximum dose, regardless of renal function and body mass. In contrast, individuals with both PDZK1 rs12129861 GG and SLC22A12 rs505802 TT genotypes would require more than the maximum dose, thus selecting alternative medications.\"","sentence":"Allele T is associated with increased dose of allopurinol in people with Gout as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Gout","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2757655","article_title":"Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European American and African Americans","article_path":"articles/PMC2757655.md","variant_annotation_id":1447519671,"variant_haplotypes":"rs2359612","gene":"VKORC1","drugs":"warfarin","pmid":18466099,"phenotype_category":"Dosage","significance":"yes","notes":"in European Americans and African Americans.","sentence":"Genotypes AA + AG are associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10914946","article_title":"Genetic Variants Associated With Response to Platinum-Based Chemotherapy in Non-Small Cell Lung Cancer Patients: A Field Synopsis and Meta\u2010Analysis","article_path":"articles/PMC10914946.md","variant_annotation_id":1452403243,"variant_haplotypes":"rs1048943","gene":"CYP1A1","drugs":"Platinum compounds","pmid":38450253,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Similarly, an increased risk of chemoresistance was observed ... as well as for CYP1A1 rs1048943 (dominant model, OR = 2.593, 95% CI = 1.535\u20134.381, p < 0.01; heterozygous model, OR = 2.512, 95% CI = 1.437\u20134.392, p < 0.01; allele model, OR = 1.851, 95% CI = 1.303\u20132.631, p < 0.01),\"","sentence":"Genotypes CC + CT is associated with increased resistance to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2754599","article_title":"CYP2B6 Variants and Plasma Efavirenz Concentrations during Antiretroviral Therapy in Port-au-Prince, Haiti","article_path":"articles/PMC2754599.md","variant_annotation_id":1184471365,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"efavirenz","pmid":19659438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As determined by significantly higher efavirenz plasma levels. This SNP was only significant in composite analysis with rs3745274: extensive metabolizers were defined as having no variant alleles at positions 516 (allele G) or (983 allele T), intermediate metabolizers had a single variant at one of the positions but not both, slow metabolizers (described as \"poor\" here) had 2 variant alleles (either genotype 516TT, 983CC, or 516 GT with 983 TC). Significant after Bonferroni correction for multiple comparisons.","sentence":"Allele C (assigned as poor metabolizer phenotype) is associated with decreased metabolism of efavirenz in people with HIV Infections as compared to allele T (assigned as normal metabolizer phenotype) .","alleles":"C","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC11558073","article_title":"The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy","article_path":"articles/PMC11558073.md","variant_annotation_id":1452709580,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"valproic acid","pmid":39539630,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The rs1057910 variant (CYP2C9*3) was associated with increased ADC with a mean of 4.9 \u00b1 1.75 [(ug/mL/day)/(mg/kg)] in carriers vs 4.15 \u00b1 1.61 in wildtype individuals (p = 0.028). \"","sentence":"Genotype AC is associated with increased dose-adjusted trough concentrations of valproic acid in people with Epilepsy as compared to genotype AA.","alleles":"AC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5795999","article_title":"Relationship between Lipid Phenotypes, Overweight, Lipid Lowering Drug Response and KIF6 and HMG-CoA Genotypes in a Subset of the Brisighella Heart Study Population","article_path":"articles/PMC5795999.md","variant_annotation_id":1452362380,"variant_haplotypes":"rs3846662","gene":"HMGCR","drugs":"hmg coa reductase inhibitors","pmid":29295555,"phenotype_category":"Efficacy","significance":"no","notes":"With regard to lipid-lowering therapy with statins, the authors did not find any association between HMG-CoA or KIF6 genotypes and achievement of <130 mg/dL LDL-C level.","sentence":"Genotypes AG + GG are not associated with response to hmg coa reductase inhibitors as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5161051","article_title":"Impact of efavirenz pharmacokinetics and pharmacogenomics on neuropsychological performance in older HIV-infected patients","article_path":"articles/PMC5161051.md","variant_annotation_id":1448265859,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":27655857,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Significant association was seen at T=12 and 18 hours.","sentence":"Allele T is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4254688","article_title":"Ethnic and genetic factors in methadone pharmacokinetics: A population pharmacokinetic study","article_path":"articles/PMC4254688.md","variant_annotation_id":1447520720,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"methadone","pmid":25456329,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype CC is associated with decreased clearance of methadone in people with Opioid-Related Disorders as compared to genotypes AC + CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767352,"variant_haplotypes":"rs75328711","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele C is not associated with trough concentration of vancomycin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2652833","article_title":"A Genome-Wide Association Study Confirms VKORC1, CYP2C9, and CYP4F2 as Principal Genetic Determinants of Warfarin Dose","article_path":"articles/PMC2652833.md","variant_annotation_id":637880237,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":19300499,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479783,"variant_haplotypes":"rs929087","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC1365155","article_title":"An unequal cross-over event within the CYP2D gene cluster generates a chimeric CYP2D7/CYP2D6 gene which is associated with the poor metabolizer phenotype","article_path":"articles/PMC1365155.md","variant_annotation_id":1184755882,"variant_haplotypes":"CYP2D6*5, CYP2D6*13","gene":"CYP2D6","drugs":"dextromethorphan","pmid":8554938,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Study identified *13 in a male with a dextromethorphan poor metabolizer phenotype (PM was defined with a log DEM/DOR higher -0.5. All the exons were successfully amplified using except exon 1 which required a combination of CYP2D7 gene-specific 5' primer and a CYP2D6 gene-specific 3' primer. he chimeric gene is non-functional presumably due to an insertion in exon 1 (characteristic of the exon 1 of the CYP2D7 gene) which causes a shift in the reading frame with premature termination of translation.","sentence":"CYP2D6 *5/*13 (assigned as poor metabolizer phenotype) is associated with decreased metabolism of dextromethorphan.","alleles":"*5/*13","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438555,"variant_haplotypes":"rs1801159","gene":"DPYD","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 3.3E-3.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":655388257,"variant_haplotypes":"rs4148945","gene":"CHST3","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with data in pgkb, actual base not listed in paper)","sentence":"Allele C is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC9080200","article_title":"Influence of cytochrome P450 and glutathione S transferase polymorphisms on response to nilotinib therapy among chronic myeloidleukemia patients from Pakistan","article_path":"articles/PMC9080200.md","variant_annotation_id":1451782480,"variant_haplotypes":"rs1695","gene":"GSTP1","drugs":"nilotinib","pmid":35527244,"phenotype_category":"Efficacy","significance":"yes","notes":"Rs number from PharmGKB, effects reported for GSTP1A313G. Excerpt \"wild type CYP1A1, GSTP1 and GSTM1 deletion was significantly frequent in responders. The partial responders carried heterozygous mutant genotypes of CYP1A1, GSTP1 and wild type of GSTM1/GSTT1 whereas homozygous GSTP1genotype was significantly linked to treatment failure.\"","sentence":"Allele A is associated with increased response to nilotinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501862,"variant_haplotypes":"rs2461817","gene":"NR1I2","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was significant in the whole cohort. As measured by a higher carbamazepine-10-11 epoxide: carbamazepine ratio. However, Allele C was associated with decreased clearance in African American patients (p=0.03, n=30).","sentence":"Allele C is associated with increased metabolism of carbamazepine in people with Epilepsy as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6851426","article_title":"Pharmacogenomics and Placebo Response in a Randomized Clinical Trial in Asthma","article_path":"articles/PMC6851426.md","variant_annotation_id":1451123480,"variant_haplotypes":"rs2392165","gene":null,"drugs":"nedocromil","pmid":31557306,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotypes AG + GG are not associated with response to nedocromil in children with Asthma as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407539,"variant_haplotypes":"rs4818","gene":"COMT","drugs":"morphine","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Study-wide significance was set to p<0.017.","sentence":"Allele G is not associated with response to morphine in healthy individuals as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3984266","article_title":"Germline Variation in Colorectal Risk Loci Does Not Influence Treatment Effect or Survival in Metastatic Colorectal Cancer","article_path":"articles/PMC3984266.md","variant_annotation_id":1446895512,"variant_haplotypes":"rs7014346","gene":null,"drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":24727911,"phenotype_category":"Efficacy","significance":"no","notes":"SNPs were investigated for their effects on response rate, time to progression and overall survival. After accounting for multiple testing there was no association with any SNPs and outcomes of patients with metastatic colorectal cancer.","sentence":"Allele A is not associated with response to fluorouracil, irinotecan and oxaliplatin in people with Colorectal Neoplasms and Neoplasm Metastasis as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms, Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954089,"variant_haplotypes":"rs228697","gene":"PER3","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166050,"variant_haplotypes":"rs9901675","gene":"FXR2","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele A is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451114046,"variant_haplotypes":"rs6473797","gene":"OPRK1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy. Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271217,"variant_haplotypes":"CYP2D6 poor metabolizers and intermediate metabolizers","gene":"CYP2D6","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"no","notes":"Response defined by changes in the rate of dropout from treatment between metabolizer phenotypes. Study genotyped for the CYP2D6 *1, *2,; *2A, *3, *4, *5, *6, *7, *8, *9, *10, *11, *12, *14, *15, *17 and; *41 alleles as well as gene duplication and then assigned metabolizer phenotypes.","sentence":"CYP2D6 poor metabolizers and intermediate metabolizers is not associated with response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to CYP2D6 normal metabolizer and ultra-metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and ultrarapid metabolizer"} +{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703546,"variant_haplotypes":"rs2282143","gene":"SLC22A1","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype was not significantly with associated with likelihood of achieving a major cytogenetic response (MCgR) within 12 months. MCgR was defined as achieving either a complete or partial cytogenetic response (CCgR; PCgR). Cytogenetic response was based on bone marrow assessment, where CCgR was 0% Ph+ cells, and PCgR was >0 to 35% Ph+ cells.","sentence":"Genotype CC is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557909,"variant_haplotypes":"rs4673990","gene":"ATIC","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3992925","article_title":"IL-4 receptor polymorphisms predict reduction in asthma exacerbations during response to an anti\u2013IL-4 receptor \u03b1 antagonist","article_path":"articles/PMC3992925.md","variant_annotation_id":981477286,"variant_haplotypes":"rs1805010","gene":"IL4R","drugs":"pitrakinra","pmid":22541248,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the AA genotype have a reduced frequency of asthma exacerbations compared to those with the AG + GG genotypes.","sentence":"Genotype AA is associated with increased response to pitrakinra in people with Asthma as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":1444708196,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Dosage","significance":"no","notes":"CYP2C9 affected the phenprocoumon concentration, but not the dose requirements.","sentence":"CYP2C9 *1/*2 + *2/*2 + *2/*3 + *1/*3 + *3/*3 are not associated with decreased dose of phenprocoumon as compared to CYP2C9 *1/*1.","alleles":"*1/*2 + *2/*2 + *2/*3 + *1/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3603284","article_title":"Discordant Associations between SLCO1B1 521T\u2192C and Plasma Levels of Ritonavir-boosted Protease Inhibitors in AIDS Clinical Trials Group Study A5146","article_path":"articles/PMC3603284.md","variant_annotation_id":1451116000,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"lopinavir","pmid":23503447,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Association was significant in white patients only. Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is associated with increased trough concentration of lopinavir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5898372","article_title":"Genotypic and Phenotypic Factors Influencing Drug Response in Mexican Patients With Type 2 Diabetes Mellitus","article_path":"articles/PMC5898372.md","variant_annotation_id":1449310639,"variant_haplotypes":"rs5219","gene":"KCNJ11","drugs":"sulfonamides, urea derivatives","pmid":29681852,"phenotype_category":"Efficacy","significance":"yes","notes":"The CT genotype was associated with increased response to sulfonylureas (a greater than or equal to 7% decrease in Hb1Ac levels at least 3 months after beginning treatment).","sentence":"Genotype CT is associated with increased response to sulfonamides, urea derivatives in people with Diabetes Mellitus as compared to genotypes CC + TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC11246689","article_title":"Genetic variants of ABCB1 and CES1 genes on dabigatran metabolism in the Kazakh population","article_path":"articles/PMC11246689.md","variant_annotation_id":1452536003,"variant_haplotypes":"rs2244613","gene":"CES1","drugs":"dabigatran","pmid":39011438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Patients with the rs2244613 GG genotype had a lower concentration (55.27 \u00b1 34.22 ng/ml) compared to those with the TT genotype (63.33 \u00b1 52.25 ng/ml) (additive model, P = 0.000). \"","sentence":"Genotypes GG + GT is associated with decreased concentrations of dabigatran in people with Atrial Fibrillation as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4565152","article_title":"Genetic Variation at the LDL Receptor and HMG CoA Reductase Gene Loci, Lipid Levels, Statin Response, and Cardiovascular Disease Incidence in PROSPER","article_path":"articles/PMC4565152.md","variant_annotation_id":769152897,"variant_haplotypes":"rs17238540","gene":"HMGCR","drugs":"pravastatin","pmid":18261733,"phenotype_category":"Efficacy","significance":"no","notes":"PROSPER study. Baseline Lipid Values, LDL-C lowering response,trial CHD and CVD outcomes were measured. 40 mg/day pravastatin. There was also no association with baseline lipid level or baseline CVD.","sentence":"Allele G is not associated with response to pravastatin in people with Vascular Diseases as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Vascular Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5427048","article_title":"The Pharmacogenetics of Tacrolimus in Corticosteroid-Sparse Pediatric and Adult Kidney Transplant Recipients","article_path":"articles/PMC5427048.md","variant_annotation_id":1451095020,"variant_haplotypes":"rs1057868","gene":"POR","drugs":"tacrolimus","pmid":28229376,"phenotype_category":"Metabolism/PK","significance":"no","notes":"reported for *28 (rs1057868 T).","sentence":"Genotypes CT + TT is not associated with trough concentration of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3444290","article_title":"Association of the SLC30A8 missense polymorphism R325W with proinsulin levels at baseline and after lifestyle, metformin or troglitazone intervention in the Diabetes Prevention Program","article_path":"articles/PMC3444290.md","variant_annotation_id":981479950,"variant_haplotypes":"rs13266634","gene":"SLC30A8","drugs":"metformin","pmid":21779873,"phenotype_category":"Efficacy","significance":"no","notes":"This was measured at 1 year.","sentence":"Allele C is not associated with response to metformin in people with high risk of developing diabetes as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:high risk of developing diabetes","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452435020,"variant_haplotypes":"rs3740066","gene":"ABCC2","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Based on available allele frequency data, it is assumed that the paper compares the C and T alleles.","sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340140,"variant_haplotypes":"rs2884737","gene":"VKORC1","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, this variant is associated with 19.6mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"Genotypes AC + CC are associated with decreased dose of warfarin as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5945500","article_title":"Correlation of MDR1 gene polymorphism with propofol combined with remifentanil anesthesia in pediatric tonsillectomy","article_path":"articles/PMC5945500.md","variant_annotation_id":1449311615,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"propofol, remifentanil","pmid":29755652,"phenotype_category":"Efficacy","significance":"yes","notes":"Referred to as 1236 C>T in the paper. Please note that alleles have been complemented to the positive strand.; Patients with the GG genotype were determined to have an increased response to propofol/remifentanil anesthesia compared to patients with the AA or AG genotypes as patients with the GG genotype had a decreased time of induction, respiration recovery, eye-opening and extubation in addition to reduced blood pressure and heart rate values, increased postsurgery analgesia (as determined by VAS score) and decreased postsurgery sedation (as determined by Ramsey score). However, GG patients also had increased FLACC score, indicating increased pain following extubation.","sentence":"Genotype GG is associated with increased response to propofol and remifentanil in children as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC2959002","article_title":"Possible association of norepinephrine transporter -3081(A/T) polymorphism with methylphenidate response in attention deficit hyperactivity disorder","article_path":"articles/PMC2959002.md","variant_annotation_id":1450376384,"variant_haplotypes":"rs28386840","gene":"SLC6A2","drugs":"methylphenidate","pmid":20929549,"phenotype_category":"Efficacy","significance":"not stated","notes":"ADHD Rating Scale-IV (ARS) and Clinical Global Impression (CGI) were used to assess response. Of the subjects who had the T allele as one of the alleles (A/T or T/T genotypes) at the -3081(A/T) polymorphism, 61.4% (51 of 83) showed a good response (CGI-I = 1 or 2) to MPH treatment. However, only 37.9% (11 of 29) of the subjects with the A/A genotype showed a good response to MPH treatment (p = 0.03) = trend of significance.","sentence":"Genotypes AT + TT are associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotype AA.","alleles":"AT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981793989,"variant_haplotypes":"rs1042858","gene":"RRM1","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Tumor response to therapy, progression free survival, and risk of neutropenia development did not significantly differ between genotype groups.","sentence":"Genotype AA is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11160041","article_title":"CBR1 and CBR3 pharmacogenetics and their influence on doxorubicin disposition in Asian breast cancer patients","article_path":"articles/PMC11160041.md","variant_annotation_id":1448105627,"variant_haplotypes":"rs9024","gene":"CBR1","drugs":"doxorubicin","pmid":19016765,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype GG is associated with decreased exposure to doxorubicin in people with Breast Neoplasms as compared to genotype AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157221,"variant_haplotypes":"rs1042114","gene":"OPRD1","drugs":"methadone","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.","sentence":"Allele G is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2547143","article_title":"\u03b1-ADDUCIN POLYMORPHISM ASSOCIATED WITH INCREASED RISK OF ADVERSE CARDIOVASCULAR OUTCOMES: RESULTS FROM INVEST-GENES","article_path":"articles/PMC2547143.md","variant_annotation_id":982033246,"variant_haplotypes":"rs4961","gene":"ADD1","drugs":"atenolol, verapamil","pmid":18657677,"phenotype_category":"Efficacy","significance":"no","notes":"The effect of diuretic use on risk of cardiovascular outcomes did not vary by rs4961 genotype.","sentence":"Genotype GG is not associated with increased response to atenolol or verapamil in people with Hypertension as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3895354","article_title":"Population pharmacokinetic and pharmacogenetic analysis of tacrolimus in paediatric liver transplant patients","article_path":"articles/PMC3895354.md","variant_annotation_id":1184998539,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":23738951,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Median value for C/D over one year post-transplantation was lower for CYP3A5*1 carriers compared to CYP3A5*3 homozygotes.","sentence":"Genotypes CT + TT is associated with increased dose of tacrolimus in children with liver transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4032230","article_title":"The Influence of 5-HTTLPR Genotype on the Association between the Plasma Concentration and Therapeutic Effect of Paroxetine in Patients with Major Depressive Disorder","article_path":"articles/PMC4032230.md","variant_annotation_id":1452054600,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"paroxetine","pmid":24858363,"phenotype_category":"Efficacy","significance":"no","notes":"The 5-HTTLPR was not associated with significant differences in response (non-/responder, MADRS improvement (%) per time) in patients receiving paroxetine.","sentence":"SLC6A4 HTTLPR long form (L allele) is not associated with response to paroxetine in people with Depressive Disorder, Major as compared to SLC6A4 HTTLPR short form (S allele).","alleles":"HTTLPR long form (L allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR short form (S allele)","comparison_metabolizer_types":null} +{"pmcid":"PMC10815823","article_title":"SLCO1B1 Genetic Variation Influence on Atorvastatin Systemic Exposure in Pediatric Hypercholesterolemia","article_path":"articles/PMC10815823.md","variant_annotation_id":1452363580,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"atorvastatin","pmid":38254988,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The mean AVA AUC0\u201324 was 2.8-fold higher in the c.521C/C group and 1.7-fold higher in the c.521T/C group relative to the participants with the reference genotype (Figure 3B, Table 2).\"","sentence":"Allele C is associated with increased dose-adjusted trough concentrations of atorvastatin in children with Hypercholesterolemia as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5727167","article_title":"Identification of two novel genes SLC15A2 and SLCO1B3 associated with maintenance dose variability of warfarin in a Chinese population","article_path":"articles/PMC5727167.md","variant_annotation_id":1449157689,"variant_haplotypes":"rs4149117","gene":"SLCO1B3","drugs":"warfarin","pmid":29234073,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype GG is associated with decreased dose of warfarin as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2794921","article_title":"A Genome-Wide Association Study of Citalopram Response in Major Depressive Disorder","article_path":"articles/PMC2794921.md","variant_annotation_id":981502448,"variant_haplotypes":"rs6966038","gene":null,"drugs":"citalopram","pmid":19846067,"phenotype_category":"Efficacy","significance":"no","notes":"It was also associated with remission. Neither association was significant after correction (430,198 SNPs tested). Frequencies listed below are for responders vs. nonresponders. Authors point out the lack of placebo control.","sentence":"Allele G is associated with increased response to citalopram in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3553682","article_title":"Impact of Pharmacogenetic Markers of CYP2B6, Clinical Factors, and Drug-Drug Interaction on Efavirenz Concentrations in HIV/Tuberculosis-Coinfected Patients","article_path":"articles/PMC3553682.md","variant_annotation_id":1183616504,"variant_haplotypes":"CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":23254426,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"*6/*6 is associated with high plasma efavirenz concentrations (units = mg/L), as shown through multivariate analysis. Fasting plasma efavirenz concentrations were measured 12 hours after the last dose, and after 12 weeks of treatment.","sentence":"CYP2B6 *6/*6 is associated with decreased clearance of efavirenz in people with HIV.","alleles":"*6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479819,"variant_haplotypes":"rs4729562","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6219441","article_title":"Comprehensive Ara-C SNP score predicts leukemic cell intracellular ara-CTP levels in pediatric acute myeloid leukemia patients","article_path":"articles/PMC6219441.md","variant_annotation_id":1449752060,"variant_haplotypes":"rs12404655","gene":"CDA","drugs":"ara-CTP","pmid":30088438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes AG + GG is associated with increased concentrations of ara-CTP in children with Leukemia, Myeloid, Acute as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC2630264","article_title":"The largest prospective warfarin-treated cohort supports genetic forecasting","article_path":"articles/PMC2630264.md","variant_annotation_id":1183701116,"variant_haplotypes":"CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":18574025,"phenotype_category":"Dosage","significance":"yes","notes":"CYP2C9*2 and *3 explained 12% (P = 6.63 x 10(-34)) of the variation in warfarin dose.","sentence":"CYP2C9 *3 is associated with decreased dose of warfarin.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162891,"variant_haplotypes":"rs657075","gene":"IL3","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. Authors described association as suggestive in the EA population but it did not survive multiple testing correction. Direction of effect not stated. This is a proxy SNP for rs181781.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672760,"variant_haplotypes":"rs137904044","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele A is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449165990,"variant_haplotypes":"rs3210967","gene":"ZDHHC7","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449715962,"variant_haplotypes":"rs1153702","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2750008","article_title":"A single tumour necrosis factor haplotype influences the response to adalimumab in rheumatoid arthritis","article_path":"articles/PMC2750008.md","variant_annotation_id":1444693781,"variant_haplotypes":"rs361525","gene":"TNF","drugs":"adalimumab","pmid":17673491,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in genotype frequencies was seen between those who were responders to treatment and those who were non-responders. Response defined as a 50% percent response to adalimumab therapy according to the American College of Rheumatology criteria (ACR50 responders) at week 12 after treatment initiation.","sentence":"Genotype GG is not associated with response to adalimumab in people with Arthritis, Rheumatoid as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815009,"variant_haplotypes":"rs2980976","gene":"TNFRSF11A","drugs":"risperidone","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of A alleles present in a patient was positively associated with CGI-S score.","sentence":"Allele A is associated with decreased response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5558541","article_title":"Rooted in risk: genetic predisposition for low-density lipoprotein cholesterol level associates with diminished low-density lipoprotein cholesterol response to statin treatment","article_path":"articles/PMC5558541.md","variant_annotation_id":1448263702,"variant_haplotypes":"rs629301","gene":"SORT1","drugs":"hmg coa reductase inhibitors","pmid":27648687,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by lesser reductions in LDL-C. These individuals were also more likely to start out with higher LDL-C before treatment.","sentence":"Allele T is associated with decreased response to hmg coa reductase inhibitors in people with Cardiovascular Diseases and Hypercholesterolemia as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease, Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11240873","article_title":"Precision Dosing for Tacrolimus Using Genotypes and Clinical Factors in Kidney Transplant Recipients of European Ancestry","article_path":"articles/PMC11240873.md","variant_annotation_id":1451714340,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":33512723,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The C allele is equivalent to the CYP3A5*3 allele.","sentence":"Genotypes CT + TT are associated with increased clearance of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5028170","article_title":"The correlation between CYP2D6 isoenzyme activity and haloperidol efficacy and safety profile in patients with alcohol addiction during the exacerbation of the addiction","article_path":"articles/PMC5028170.md","variant_annotation_id":1448993587,"variant_haplotypes":"rs3892097","gene":"CYP2D6","drugs":"haloperidol","pmid":27695358,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by a smaller difference in score between day 0 and day 5 on SoPA, Scale of Pathological Addiction; HARS, Hamilton Anxiety Rating Scale; BAI, Beck Anxiety Inventory; CARS, Covi Anxiety Scale; ZARS, Zung Self-Rating Anxiety Scale; SARS, Sheehan Clinical Anxiety Rating Scale; HDRS, Hamilton Rating Scale for Depression.","sentence":"Genotype CC is associated with decreased response to haloperidol in men with Alcohol-Related Disorders, Alcoholic psychosis NOS and Alcoholism as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Alcoholic psychosis, Disease:Alcohol abuse, Disease:Alcohol-Related Disorders","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166337,"variant_haplotypes":"rs17279558","gene":"GGH","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407825,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"butorphanol","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Study-wide significance was set to p<0.017.","sentence":"Allele A is not associated with response to butorphanol in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3657889","article_title":"Cytochrome P450 (CYP2C9*2,*3) & vitamin-K epoxide reductase complex (VKORC1 -1639G20 mg/wk (P=0.014).","sentence":"CYP2C9 *2 is associated with decreased dose of acenocoumarol as compared to CYP2C9 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2760462","article_title":"Atazanavir pharmacokinetics in genetically determined CYP3A5 expressors versus non-expressors","article_path":"articles/PMC2760462.md","variant_annotation_id":1450985200,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"ritonavir","pmid":19710077,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"For the haplotype \"1236C/2677G/3435C\" \"overall ritonavir CL/F was \u223c1.9-fold faster in subjects with zero versus two CGC haplotype\"\"and was 1.47-fold faster in subjects with zero versus one CGC copy\". In this two-phase study, healthy participants were given atazanavir only for 7 days and then were co-administered ritonavir as a booster for days 8-14. The results here are for day 8-14 (atazanavir plus ritonavir).","sentence":"Genotype AA is associated with increased clearance of ritonavir in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3523080","article_title":"PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients","article_path":"articles/PMC3523080.md","variant_annotation_id":1184512532,"variant_haplotypes":"rs3732356","gene":"NR1I2","drugs":"efavirenz","pmid":23173844,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Plasma levels of efavirenz were not statistically significantly different between TT, GT, GG genotypes of this SNP.","sentence":"Genotype GG is not associated with metabolism of efavirenz in people with HIV Infections as compared to genotype TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038060,"variant_haplotypes":"rs2542051","gene":"APOC3","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.","sentence":"Genotypes AC + CC are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680162,"variant_haplotypes":"rs73294475","gene":"CRHR2","drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"yes","notes":"The allele associated with increased response and low frequency is not explicitly stated. Response is increased for carriers of the rare, minor allele. GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation. This was assessed as a replication attempt for a previously reported association of a different CRHR2 SNP with response to bronchodilators. Bonferroni correction was performed according to the number of SNPs included that are within 50 kb up and downstream of CRHR2.","sentence":"Genotype CT is associated with increased response to salbutamol in children with Asthma as compared to genotype TT.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC10838100","article_title":"Association of HTR1A Gene Polymorphisms with Efficacy and Plasma Concentrations of Atypical Antipsychotics in the Treatment of Male Patients with Schizophrenia","article_path":"articles/PMC10838100.md","variant_annotation_id":1452378788,"variant_haplotypes":"rs6295","gene":"HTR1A","drugs":"risperidone","pmid":38312123,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"At 6 weeks, \"statistically significant difference in plasma concentration between genotypes at the rs6295 locus (t = 2.113, P = 0.048) (Table 4).\"","sentence":"Genotypes CG + GG is associated with increased concentrations of risperidone in men with Schizophrenia as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC8553963","article_title":"Influence of Cytochrome P450 2C19 Genotype on Helicobacter pylori Proton Pump Inhibitor-Amoxicillin-Clarithromycin Eradication Therapy: A Meta-Analysis","article_path":"articles/PMC8553963.md","variant_annotation_id":1451581560,"variant_haplotypes":"CYP2C19 normal metabolizer genotype","gene":"CYP2C19","drugs":"amoxicillin, clarithromycin, omeprazole","pmid":34721043,"phenotype_category":"Efficacy","significance":"yes","notes":"\"RR of failed eradication in CYP2C19 EMs compared with PMs was 1.66 (95% CI: 1.12\u20132.46, p = 0.01).\"","sentence":"CYP2C19 normal metabolizer is associated with decreased clinical benefit to amoxicillin, clarithromycin and omeprazole in people with Helicobacter Infections as compared to CYP2C19 poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Efficacy:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"poor metabolizer"} +{"pmcid":"PMC4505931","article_title":"Effect of zinc supplementation on insulin secretion: interaction between zinc and SLC30A8 genotype in Old Order Amish","article_path":"articles/PMC4505931.md","variant_annotation_id":1296599203,"variant_haplotypes":"rs13266634","gene":"SLC30A8","drugs":"insulin recombinant, zinc acetate","pmid":25348609,"phenotype_category":"Efficacy","significance":"yes","notes":"The aim of the study was to determine whether zinc supplements improved insulin response in people with the CT+TT genotypes as compared to people with the CC genotypes. After being administered insulin without zinc, fasting characteristics were similar across genotypes except for C-peptide:insulin ratio, insulin AUC at 5 and 10 minutes, which were significantly lower in the CC genotype group. The proinsulin:insulin ratio at 5 and 10 minutes after insulin and glucose as well as the C-peptide:insulin ratio at 5 and 10 minutes after insulin and glucose were also lower in the CC genotype group compared to the CT+TT genotype group. People with the CT+TT genotypes had significantly improved responses to insulin when it was supplemented with zinc acetate as compared to CC genotypes.","sentence":"Genotypes CT + TT is associated with increased response to insulin recombinant and zinc acetate in healthy individuals as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479797,"variant_haplotypes":"rs2527894","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10864595","article_title":"Optimizing the initial tacrolimus dosage in Chinese children with lung transplantation within normal hematocrit levels","article_path":"articles/PMC10864595.md","variant_annotation_id":1452386542,"variant_haplotypes":"CYP3A5*1","gene":"CYP3A5","drugs":"tacrolimus","pmid":38357508,"phenotype_category":"Dosage","significance":"not stated","notes":"\"For children with lung transplantation who do not carry the CYP3A5*1 gene and have coadministration with voriconazole, tacrolimus dosages of 0.01 and 0.02\u2005mg/kg/day split into two doses are recommended for children weighing 10-17 and 17-40\u2005kg, respectively. For children with lung transplantation who carry the CYP3A5*1 gene and have coadministration with voriconazole, a tacrolimus dosage of 0.02\u2005mg/kg/day split into two doses is recommended for children weighing 10-40\u2005kg.\"","sentence":"CYP3A5 *1 is associated with increased dose of tacrolimus in children with lung transplantation.","alleles":"*1","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699002,"variant_haplotypes":"rs1165016","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses). Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4190075","article_title":"ABCC3 and OCT1 genotypes influence pharmacokinetics of morphine in children","article_path":"articles/PMC4190075.md","variant_annotation_id":1184998709,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"morphine","pmid":25155932,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Children with the AA genotype had higher levels of morphine-3-glucuronide metabolite formation - no difference between genotypes of this SNP were seen for morphine-6-glucuronide formation or morphine clearance. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype AA is associated with increased metabolism of morphine in children as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3598593","article_title":"Effect of Fenofibrate Therapy and ABCA1 Polymorphisms on High Density Lipoprotein Subclasses in the Genetics of Lipid Lowering Drugs and Diet Network","article_path":"articles/PMC3598593.md","variant_annotation_id":982044801,"variant_haplotypes":"rs2230808","gene":"ABCA1","drugs":"fenofibrate","pmid":20346718,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CC genotype had a greater small high-density lipoprotein (HDL) particle concentration (units = umol/L) and a greater total HDL particle concentration after fenofibrate treatment for 3 weeks, as compared to patients with the TT genotype.","sentence":"Genotype CC is associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3622803","article_title":"Genetic Variation in BDNF is Associated with Antipsychotic Treatment Resistance in Patients with Schizophrenia","article_path":"articles/PMC3622803.md","variant_annotation_id":1183697777,"variant_haplotypes":"rs10501087","gene":"BDNF-AS","drugs":"antipsychotics","pmid":23433505,"phenotype_category":"Efficacy","significance":"yes","notes":"The C allele is associated with increased odds of resistance to antipsychotic treatment. Resistance was assessed by whether patients were taking clozapine, since clozapine is indicated for patients poorly responsive or resistant to first-line treatments.","sentence":"Genotypes CC + CT is associated with increased resistance to antipsychotics in people with Schizophrenia as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4469933","article_title":"Association between opioid receptor mu 1 (OPRM1) gene polymorphisms and tobacco and alcohol consumption in a Spanish population","article_path":"articles/PMC4469933.md","variant_annotation_id":1450822078,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":26042510,"phenotype_category":"Dosage","significance":"yes","notes":"Women who carried the G allele were significantly less likely to be alcohol consumers than other groups.","sentence":"Genotypes AG + GG are associated with decreased dose of ethanol in women as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896070,"variant_haplotypes":"rs13015447","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451974006,"variant_haplotypes":"rs77576241","gene":"PIK3CA","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with increased resistance to clopidogrel in people with Coronary Disease as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479802,"variant_haplotypes":"rs2527887","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3061841","article_title":"The Relation Between CYP2C19 Genotype and Phenotype in Stented Patients on Maintenance Dual Antiplatelet Therapy","article_path":"articles/PMC3061841.md","variant_annotation_id":769245459,"variant_haplotypes":"rs12248560","gene":"CYP2C19","drugs":"aspirin, clopidogrel","pmid":21392617,"phenotype_category":"Efficacy","significance":"no","notes":"These patients had coronary arterial stenting. Comparison was T carriers (TT + CT) vs non-carriers (CC) but the template doesn't accommodate this choice. *17 SNP. ADP-induced ex vivo platelet aggregation was measured. [stat_test: chi-square]","sentence":"Allele T is not associated with increased response to aspirin and clopidogrel in people with Coronary Artery Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7039663","article_title":"Pharmacogenetics predictors of methylphenidate efficacy in childhood ADHD","article_path":"articles/PMC7039663.md","variant_annotation_id":1450180321,"variant_haplotypes":"rs6551665","gene":"ADGRL3","drugs":"methylphenidate","pmid":29230023,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5432414","article_title":"ABC Transporter Polymorphisms are Associated with Irinotecan Pharmacokinetics and Neutropenia","article_path":"articles/PMC5432414.md","variant_annotation_id":1448435370,"variant_haplotypes":"rs215095","gene":"ABCC1","drugs":"SN-38","pmid":27845419,"phenotype_category":"Metabolism/PK","significance":"no","notes":"AUC of SN-38 was adjusted for irinotecan dose.","sentence":"Genotypes AG + GG are not associated with exposure to SN-38 in people with Colorectal Neoplasms as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC11758033","article_title":"Sodium channel mutation SCN1A T875M, D188V and associated dysfunction with drug resistant epilepsy","article_path":"articles/PMC11758033.md","variant_annotation_id":1452856373,"variant_haplotypes":"rs121918623","gene":"SCN1A","drugs":"antiepileptics","pmid":39974498,"phenotype_category":"Efficacy","significance":"no","notes":"Alleles complemented. \"Whereas, on comparing the distribution of SCN1A rs121918623 C/T* genotypic variants, no significant difference was observed across both the study groups, with a P value of 1.00 (Table 2).\"","sentence":"Allele A is not associated with increased resistance to antiepileptics in people with Epilepsy as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104820,"variant_haplotypes":"rs1050316","gene":"MEF2D","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele T is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4833150","article_title":"Genetic markers in CYP2C19 and CYP2B6 for prediction of cyclophosphamide's 4\u2010hydroxylation, efficacy and side effects in Chinese patients with systemic lupus erythematosus","article_path":"articles/PMC4833150.md","variant_annotation_id":1446907885,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"cyclophosphamide","pmid":26456622,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with metabolism of cyclophosphamide in people with as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":699639212,"variant_haplotypes":"rs255100","gene":"CRHR2","drugs":"salbutamol","pmid":18408560,"phenotype_category":"Efficacy","significance":"no","notes":"in replication cohort with adult patients.","sentence":"Allele A is not associated with decreased response to salbutamol in people with Asthma as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3988270","article_title":"Genetic variation in OPRD1 and the response to treatment for opioid dependence with buprenorphine in European American females","article_path":"articles/PMC3988270.md","variant_annotation_id":1184513732,"variant_haplotypes":"rs581111","gene":"OPRD1","drugs":"buprenorphine, methadone","pmid":24126707,"phenotype_category":"Efficacy","significance":"no","notes":"Opioid dependence. This genetic variant did not have a significant effect on the percentage of opioid-positive urine drug screens or missing urine drug screens in males. Note that significant results were seen for females. Patients were treated with buprenorphine or methadone for 24 weeks.","sentence":"Allele A is not associated with response to buprenorphine or methadone in men with Opioid-Related Disorders as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in men with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3383686","article_title":"Meta-Analysis on Pharmacogenetics of Platinum-Based Chemotherapy in Non Small Cell Lung Cancer (NSCLC) Patients","article_path":"articles/PMC3383686.md","variant_annotation_id":982046452,"variant_haplotypes":"rs1799793","gene":"ERCC2","drugs":"Platinum compounds","pmid":22761669,"phenotype_category":"Efficacy","significance":"no","notes":"No significant relationship between genotype and drug response was detected.","sentence":"Allele C is not associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5342670","article_title":"IL-3 and CTLA4 gene polymorphisms may influence the tacrolimus dose requirement in Chinese kidney transplant recipients","article_path":"articles/PMC5342670.md","variant_annotation_id":1448613196,"variant_haplotypes":"rs4553808","gene":"CTLA4","drugs":"tacrolimus","pmid":28112181,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was significant in CYP3A5 expressors but the opposite association was seen in CYP3A5 expressers. The time of measurement was 30 days after transplantation. Day 7 and day 90 after transplantation did not show a significant association.","sentence":"Genotype AA is associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4104334","article_title":"Identification of Candidate Single-Nucleotide Polymorphisms in NRXN1 Related to Antipsychotic Treatment Response in Patients with Schizophrenia","article_path":"articles/PMC4104334.md","variant_annotation_id":1447674771,"variant_haplotypes":"rs10490162","gene":"NRXN1","drugs":"antipsychotics","pmid":24633560,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients homozygous for the T allele had significant improvement in positive symptoms (p=0.0045), general psychopathology (p=0.0146), thought disturbance (p=0.0029), activation (p=0.008), anergia (p=0.0266) and negative symptoms (p=0.0047), while patients carrying the C allele showed no overall response. No significant results were seen for paranoid belligerence (p=0.1598) or depression (p=0.1869). Additionally, no significant results were seen when the associations for positive and negative symptoms and general psychopathology were tested for replication in a different cohort (CATIE study). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is associated with increased response to antipsychotics in people with Schizophrenia as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767340,"variant_haplotypes":"rs17163303","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele T is not associated with trough concentration of vancomycin as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10645035","article_title":"Association of CYP3A5*3, CYP3A4*18 & CYP2B6*6 polymorphisms with imatinib treatment outcome in Azerbaijani chronic myeloid leukaemia patients","article_path":"articles/PMC10645035.md","variant_annotation_id":1452239460,"variant_haplotypes":"rs28371759","gene":"CYP3A4","drugs":"imatinib","pmid":37706370,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented to plus chromosomal strand. No GG homozygotes were observed. Authors describe effect as \"\"In contrast, the frequency of the; CYP3A4*18 allele was significantly elevated in; the poor responders (100%) compared to the good; responders (97.1%; P=0.036; Table II).\" but the table lists *18 as present (Heterozygous (TC)) in the IM good responders and not the IM resistant.","sentence":"Genotype AG is associated with increased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC11310823","article_title":"Pharmacogenetic Variants and Plasma Concentrations of Antiseizure Drugs: A Systematic Review and Meta-Analysis","article_path":"articles/PMC11310823.md","variant_annotation_id":1452563885,"variant_haplotypes":"UGT1A6*1a, UGT1A6*2a","gene":"UGT1A6","drugs":"valproic acid","pmid":39115847,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Compared with homozygous carriers of the major UGT1A6 allele, heterozygous carriers of the UGT1A6*2 allele exhibited a 9% (95% CI, 3%-15%) reduction in valproate plasma concentrations, while the reduction in homozygous UGT1A6*2 carriers did not reach statistical significance (Table 3).\" \"UGT1A6*2: rs6759892, rs2070959, or rs1105879\"","sentence":"UGT1A6 *2a is associated with decreased concentrations of valproic acid as compared to UGT1A6 *1a/*1a.","alleles":"*2a","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1a/*1a","comparison_metabolizer_types":null} +{"pmcid":"PMC5534241","article_title":"A Longitudinal HbA1c Model Elucidates Genes Linked to Disease Progression on Metformin","article_path":"articles/PMC5534241.md","variant_annotation_id":1448267876,"variant_haplotypes":"rs2954625","gene":"CSMD1","drugs":"metformin","pmid":27415606,"phenotype_category":"Efficacy","significance":"yes","notes":"using computational model-based approaches and genetic, demographic, and long-term HbA1c data from 1,056 patients.","sentence":"Genotypes CT + TT are associated with decreased response to metformin in people with Diabetes Mellitus as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672680,"variant_haplotypes":"rs199515342","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is associated with decreased metabolism of nicotine as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5763654","article_title":"Monitoring of peripheral blood cluster of differentiation 4+ adenosine triphosphate activity and CYP3A5 genotype to determine the pharmacokinetics, clinical effects and complications of tacrolimus in patients with autoimmune diseases","article_path":"articles/PMC5763654.md","variant_annotation_id":1449172248,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":29375701,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the occurrence rate of inadequate response to treatment was seen between the genotypes.","sentence":"CYP3A5 *1/*1 + *1/*3 is not associated with response to tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC5148898","article_title":"Genetic polymorphisms of patients on stable warfarin maintenance therapy in a Ghanaian population","article_path":"articles/PMC5148898.md","variant_annotation_id":1448601916,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":27938396,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype AG is associated with increased dose of warfarin in people with Atrial Fibrillation, Cardiomyopathies, heart valve replacement, Peripheral Vascular Diseases, Pulmonary Embolism and Venous Thrombosis as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation, Disease:Cardiomyopathies, Disease:Heart valve replacement, Disease:Peripheral Vascular Diseases, Disease:Pulmonary Embolism, Disease:Venous Thrombosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5904201","article_title":"Influence of APOA5 Locus on the Treatment Efficacy of Three Statins: Evidence From a Randomized Pilot Study in Chinese Subjects","article_path":"articles/PMC5904201.md","variant_annotation_id":1449311002,"variant_haplotypes":"rs662799","gene":"APOA5","drugs":"simvastatin","pmid":29695967,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects were randomized to receive one of three dose-adjusted statins (N = 65 rosuvastatin, N= 65 atorvastatin, N= 65 simvastatin) and cholesterol (HDL, LDL), triglycerides and free-fatty acids (FFA) were compared between groups before and after statin treatment. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AA is associated with increased response to simvastatin in people with Dyslipidaemia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Dyslipidaemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10152845","article_title":"Genetic Polymorphisms in ERCC1 Gene and Their Association with Response to Radiotherapy in Moroccan Patients with Nasopharyngeal Carcinoma","article_path":"articles/PMC10152845.md","variant_annotation_id":1452000942,"variant_haplotypes":"rs3212986","gene":"ERCC1","drugs":"radiotherapy","pmid":36708557,"phenotype_category":"Efficacy","significance":"no","notes":". Statistical analyses showed no significant; association between the radio-resistance status and,; C8092A genotypes (p=0.81) and allelic frequencies; (p=0.56).","sentence":"Allele A is not associated with resistance to radiotherapy in people with Nasopharyngeal Neoplasms as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Nasopharyngeal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7340566","article_title":"Systematic Review and Meta-Analysis of the Moderating Effect of rs1799971 in OPRM1, the Mu-opioid Receptor Gene, on Response to Naltrexone Treatment of Alcohol Use Disorder","article_path":"articles/PMC7340566.md","variant_annotation_id":1451141783,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"naltrexone","pmid":31961981,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between the variant and drinking outcomes following correction for multiple comparisons. A meta-analysis combined all outcomes measured also found no significant association with the variant.","sentence":"Allele G is not associated with response to naltrexone in people with Alcoholism as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4236071","article_title":"Adiponectin Gene Polymorphism rs2241766 T/G Is Associated with Response to Pioglitazone Treatment in Type 2 Diabetic Patients from Southern China","article_path":"articles/PMC4236071.md","variant_annotation_id":1444666909,"variant_haplotypes":"rs2241767","gene":"ADIPOQ","drugs":"pioglitazone","pmid":25405601,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as \"any decrease greater than (or equal to) 15%\" of glycated hemoglobin (HbA1C%).","sentence":"Genotype AA are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896199,"variant_haplotypes":"rs113889867","gene":"STMN2","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376539,"variant_haplotypes":"rs2550948","gene":"SLC6A3","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"yes","notes":"For the genetic component, in the CGI-S model, a dominant effect in SLC6A3 rs2550948 was found with a significant improvement in the symptoms. Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Genotypes CC + CT are associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4405819","article_title":"CYP2B6*6, CYP2B6*18, Body weight and sex are predictors of efavirenz pharmacokinetics and treatment response: population pharmacokinetic modeling in an HIV/AIDS and TB cohort in Zimbabwe","article_path":"articles/PMC4405819.md","variant_annotation_id":1448997158,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"efavirenz","pmid":25889207,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes CC + CT are associated with increased concentrations of efavirenz in people with HIV Infections as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928225,"variant_haplotypes":"rs2494732","gene":"AKT1","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7235792","article_title":"Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates","article_path":"articles/PMC7235792.md","variant_annotation_id":1451147565,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"ambrisentan, aripiprazole, atorvastatin, donepezil, olanzapine","pmid":32331352,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant changes in PK parameters in the presence of the C allele. The C allele is also referred to in the paper as the CYP3A5*3 allele.","sentence":"Allele C is not associated with metabolism of ambrisentan, aripiprazole, atorvastatin, donepezil or olanzapine in healthy individuals as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3523080","article_title":"PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients","article_path":"articles/PMC3523080.md","variant_annotation_id":1184512504,"variant_haplotypes":"rs3003596","gene":"NR1I3","drugs":"efavirenz","pmid":23173844,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Plasma levels of efavirenz were significantly lower in patients with the GG genotype compared to the AA genotype, and in patients with the AG genotype compared to the AA genotype. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is associated with increased metabolism of efavirenz in people with HIV Infections as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6759913","article_title":"Genome\u2010Wide Meta\u2010Analysis of Blood Pressure Response to \u03b21\u2010Blockers: Results From ICAPS (International Consortium of Antihypertensive Pharmacogenomics Studies)","article_path":"articles/PMC6759913.md","variant_annotation_id":1451120506,"variant_haplotypes":"rs28404156","gene":"BST1","drugs":"Beta blocking agents, selective","pmid":31423876,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele was associated with an improved systolic blood pressure response. This variant met the suggestive level of significance in the discovery meta-analysis and was successfully replicated. However, it did not reach genome-wide significance in a meta-analysis of the discovery and replication data.","sentence":"Allele A is associated with increased response to Beta blocking agents, selective in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC8359222","article_title":"Avoiding Tacrolimus Underexposure and Overexposure with a Dosing Algorithm for Renal Transplant Recipients: A Single Arm Prospective Intervention Trial","article_path":"articles/PMC8359222.md","variant_annotation_id":1451643100,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":33452682,"phenotype_category":"Dosage","significance":"not stated","notes":"see Rx annotation for algorithm.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC4469933","article_title":"Association between opioid receptor mu 1 (OPRM1) gene polymorphisms and tobacco and alcohol consumption in a Spanish population","article_path":"articles/PMC4469933.md","variant_annotation_id":1450822141,"variant_haplotypes":"rs10485057","gene":"OPRM1","drugs":"nicotine","pmid":26042510,"phenotype_category":"Dosage","significance":"no","notes":"Subjects with the AA genotype had increased tobacco consumption, but this association failed to meet statistical significance.","sentence":"Genotype AA is associated with increased dose of nicotine as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11140026","article_title":"Genetic determinants of serum bilirubin using inferred native American gene variants in Chilean adolescents","article_path":"articles/PMC11140026.md","variant_annotation_id":1452502202,"variant_haplotypes":"rs1910167","gene":"SLCO1B1, SLCO1B3, SLCO1B7","drugs":"bilirubin","pmid":38826804,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Among the suggestive variants, we found the rs1910167 variant, effect allele C, in the solute carrier organic anion transporter family member 1B3 (SLCO1B3), 1B7 (SLCO1B7), and upstream of 1B1 (SLCO1B1), beta = 0.16 mg/dL total bilirubin, p = 1.26 \u00d7 10\u22126. This variant masked 368 other significant variants in the vicinity in high linkage disequilibrium and has a frequency of 8.3% in GOCS (Supplementary Table S4).\" \"The variant rs887829 near UGT1A1 explained 34.98% of the variation in total bilirubin levels, while the rs1910167 variant near SLCO1B1 only explained 4.61%. \"","sentence":"Allele C is associated with increased concentrations of bilirubin in children as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4168390","article_title":"Characterizing variability in warfarin dose requirements in children using modelling and simulation","article_path":"articles/PMC4168390.md","variant_annotation_id":1184654330,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":24330000,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"A model was created to predict maintenance doses for children of different ages, all with a baseline INR of 1 and a target INR of 2.5, based on longitudinal data from children taking warfarin. A two-fold difference in dose between children with the CC and TT genotype was found. A table predicting warfarin dose for children of 2, 8 and 14 years old with different rs9923231 genotype and CYP2C9 genotype is presented in the paper. CYP2C9 genotype, VKORC1 genotype, bodyweight, age, baseline INR, target INR and time since initiation of therapy were all found to be significant causes of warfarin dose variability in children. Note: alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype CC is associated with increased dose of warfarin in children with Heart Diseases as compared to genotype TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373223,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not significantly associated with compliance with methadone maintenance therapy or 'negative rate of morphine urine test'.","sentence":"Allele C is not associated with response to methadone in people with Heroin Dependence as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4356257","article_title":"Translesion Polymerase Genes Polymorphisms and Haplotypes Influence Survival of Osteosarcoma Patients","article_path":"articles/PMC4356257.md","variant_annotation_id":1447675747,"variant_haplotypes":"rs3087399","gene":"REV1","drugs":"cisplatin","pmid":25748439,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not associated with event-free survival (p = 0.458) or overall survival (p = 0.707), as determined by recurrence or death, with a mean follow-up time of 143 months.","sentence":"Genotypes CC + CT are not associated with increased response to cisplatin in people with Osteosarcoma as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4113831","article_title":"Effectiveness of clopidogrel dose escalation to normalize active metabolite exposure and antiplatelet effects in CYP2C19 poor metabolizers","article_path":"articles/PMC4113831.md","variant_annotation_id":1184167161,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"clopidogrel","pmid":24710841,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Assays done in blood samples of six each of *1/*1 (EM/GG),*1/*2(IM/AG) and *2/*2(PM/AA) [based on only assaying for *2; 2 EMs were *1/*17 and one IM was a *2/*17] were compared for MPA4 (maximal platelet aggregation 4 hrs post-dose) and for active metabolite area under the curve. For the EMs, this result was significant for both the 150 and 300 mg/day doses; for the IMs and PMs, it was significant for the 300 mg/day dose. At day 8, PMs needed 300 mg/day and IMs needed 150 mg/day to attain a similar MPA4 as EMs on the 75 mg/day dose.","sentence":"Allele A (assigned as poor metabolizer phenotype) is associated with increased dose of clopidogrel in healthy individuals as compared to allele G (assigned as normal metabolizer phenotype) .","alleles":"A","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":982046695,"variant_haplotypes":"rs1799809","gene":"PROC","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"Daily dose of phenprocoumon is not significantly associated with this SNP. Daily dose is negatively correlated with age. This study published an algorithm for daily dose that includes height, although height was not significant in univariate analysis. This SNP is also not significantly associated with phenprocoumon concentration.","sentence":"Genotype AA is not associated with increased dose of phenprocoumon as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170923,"variant_haplotypes":"CYP3A5 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP3A5","drugs":"tamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A5 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of tamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11140815","article_title":"Effect of apolipoprotein E (APOE) gene polymorphisms on the lipid profile of children being treated for acute lymphoblastic leukemia","article_path":"articles/PMC11140815.md","variant_annotation_id":1452430560,"variant_haplotypes":"rs429358","gene":"APOE","drugs":"cholesterol","pmid":38507115,"phenotype_category":"Toxicity","significance":"yes","notes":"\"Specifically, children with the TT genotype presented significantly higher total cholesterol and LDL cholesterol \u03ba\u03b1\u03b9 apoB-100 levels compared to children with the TC\u2009+\u2009CC genotypes (p\u2009=\u20090.033, p\u2009=\u20090.009, and p\u2009=\u20090.012, respectively). The same applies to \u03b53/\u03b53 isoforms.\"","sentence":"Genotype TT is associated with increased concentrations of cholesterol in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5006145","article_title":"Impact of CYP2C9, VKORC1 and CYP4F2 genetic polymorphisms on maintenance warfarin dosage in Han-Chinese patients: A systematic review and meta-analysis","article_path":"articles/PMC5006145.md","variant_annotation_id":1449258301,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":27617219,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele C is associated with decreased dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC7039663","article_title":"Pharmacogenetics predictors of methylphenidate efficacy in childhood ADHD","article_path":"articles/PMC7039663.md","variant_annotation_id":1450180215,"variant_haplotypes":"rs28386840","gene":"SLC6A2","drugs":"methylphenidate","pmid":29230023,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AT + TT are associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotype AA.","alleles":"AT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165153,"variant_haplotypes":"rs316019","gene":"SLC22A2","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with exposure to metformin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC1978168","article_title":"The Effect of CYP2D6 polymorphisms on the Response to Pain Treatment for Pediatric Sickle Cell Pain Crisis","article_path":"articles/PMC1978168.md","variant_annotation_id":982046919,"variant_haplotypes":"CYP2D6*1, CYP2D6*5","gene":"CYP2D6","drugs":"codeine","pmid":17517247,"phenotype_category":"Efficacy","significance":"yes","notes":"Pediatric patients with severe sickle cell disease who have failed codeine therapy for a pain crisis while taking hydroxyurea were found to be more likely to have a reduced function allele (including *4, *5, *6, *17, *40) as compared to those with mild disease, likely due to a decreased conversion of codeine to morphine. Allele frequencies were not reported. Reduced function alleles were grouped for analysis.","sentence":"CYP2D6 *5 is associated with decreased response to codeine in children with Anemia, Sickle Cell as compared to CYP2D6 *1.","alleles":"*5","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Anemia, Sickle Cell","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4890827","article_title":"A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration","article_path":"articles/PMC4890827.md","variant_annotation_id":1446907768,"variant_haplotypes":"rs2247383","gene":"NRP1","drugs":"ranibizumab","pmid":26426212,"phenotype_category":"Efficacy","significance":"no","notes":"Response was measured as change in visual acuity after 3 months of treatment in patients who received three monthly ranibizumab injections.","sentence":"Allele G is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449558022,"variant_haplotypes":"rs6064463","gene":null,"drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862218,"variant_haplotypes":"rs4818","gene":"COMT","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs2075507,rs7287550, rs5746849, rs737866, rs6269, rs2239393, rs740603, rs4680, rs174699, rs165728). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here. Since this is a G/C SNP, there is ambiguity regarding which is the associated allele. C is reported to be part of the haplotype associated with decreased dose, and this gene is on the positive chromosomal strand.","sentence":"Allele C is associated with decreased dose of morphine in people with Neoplasms as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4560372","article_title":"Association between CXCL10 and DPP4 Gene Polymorphisms and a Complementary Role for Unfavorable IL28B Genotype in Prediction of Treatment Response in Thai Patients with Chronic Hepatitis C Virus Infection","article_path":"articles/PMC4560372.md","variant_annotation_id":1446904186,"variant_haplotypes":"rs56061981","gene":"CXCL10","drugs":"peginterferon alfa-2a, peginterferon alfa-2b","pmid":26339796,"phenotype_category":"Efficacy","significance":"yes","notes":"PEG-interferon alfa (2a and b) was co-adminstered with ribavirin. Response was assessed by sustained virological response (SVR) percent by genotype. When assessed alone, the polymorphism was not significantly associated with SVR. However, in patients infected with hepatitis C- genotype I (N=266), who also carried the rs12979860 CT or TT genotypes, the CT+TT genotypes of rs56061981 became associated with increased rats of SVR when compared to patients with the CC genotype (CC+CT genotype 66.7% vs. CC genotype 33.0%, P = 0.004). Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Genotypes CT + TT are associated with increased response to peginterferon alfa-2a or peginterferon alfa-2b in people with Hepatitis C, Chronic as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC2995295","article_title":"Pharmacogenetic Predictors of Statin-Mediated Low-Density Lipoprotein Cholesterol Reduction and Dose Response","article_path":"articles/PMC2995295.md","variant_annotation_id":827807830,"variant_haplotypes":"rs7412","gene":"APOE","drugs":"atorvastatin, pravastatin, simvastatin","pmid":20031551,"phenotype_category":"Efficacy","significance":"yes","notes":"As measured by reduction in LDLc. Association was significant only at high doses.","sentence":"Allele C is associated with decreased response to atorvastatin, pravastatin or simvastatin in people with Hyperlipidemias as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hyperlipidemias","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5875925","article_title":"Pharmacogenetics of Asthma Controller Treatment","article_path":"articles/PMC5875925.md","variant_annotation_id":1183703309,"variant_haplotypes":"rs1876829","gene":"CRHR1","drugs":"fluticasone propionate","pmid":22370858,"phenotype_category":"Efficacy","significance":"yes","notes":"The minor allele is reported to be associated with increased response. dbSNP lists C as the minor allele in a CEU panel.","sentence":"Allele C is associated with increased response to fluticasone propionate in people with Asthma as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2792638","article_title":"Angiotensin-converting enzyme gene polymorphism predicts the time-course of blood pressure response to angiotensin converting enzyme inhibition in the AASK trial","article_path":"articles/PMC2792638.md","variant_annotation_id":982048078,"variant_haplotypes":"rs4359","gene":"ACE","drugs":"ramipril","pmid":17885551,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP was also reported as ACE C17888T. This SNP was in linkage disequilibrium with rs4344, D' = .88. Patients homozygous for this SNP (CC or TT) responded to ACE inhibitor treatment (reached target blood pressure) faster than patients heterozygous (CT) for this SNP.","sentence":"Genotypes CC + TT are associated with increased response to ramipril in people with Hypertension as compared to genotype CT.","alleles":"CC + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC6174029","article_title":"A novel UGT1 marker associated with better tolerance against irinotecan-induced severe neutropenia in metastatic colorectal cancer patients","article_path":"articles/PMC6174029.md","variant_annotation_id":1444936816,"variant_haplotypes":"rs11563250","gene":"UGT1A","drugs":"bilirubin","pmid":25778466,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Carriers of the G allele had a 17.5% decrease in total bilirubin as compared to those with the AA genotype. This suggests that carriers of the G allele may have elevated activity of UGT1A1 (the sole UGT1A enzyme responsible for bilirubin glucuronidation and subsequent elimination).","sentence":"Genotypes AG + GG is associated with decreased concentrations of bilirubin in people with Colorectal Neoplasms as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6423619","article_title":"Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19","article_path":"articles/PMC6423619.md","variant_annotation_id":1450935739,"variant_haplotypes":"rs140278421","gene":"CYP2C19","drugs":"mephenytoin","pmid":30745309,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In vitro analysis showed that intrinsic clearance of S-mephenytoin by CYP2C19 protein containing the A allele was 6.5% of that of the WT protein. Variant referred to as 557G>A in the paper.","sentence":"Allele A is associated with decreased clearance of mephenytoin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3071070","article_title":"Association of Pharmacogenetic Markers with Premature Discontinuation of First-line Anti-HIV Therapy: An Observational Cohort Study","article_path":"articles/PMC3071070.md","variant_annotation_id":1451164161,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"atazanavir / ritonavir","pmid":21288825,"phenotype_category":"Toxicity","significance":"no","notes":"even though *28/*28 was significant (see annotation on homozygote).","sentence":"UGT1A1 *1/*28 is not associated with increased discontinuation of atazanavir / ritonavir in people with HIV Infections as compared to UGT1A1 *1/*1.","alleles":"*1/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3525178","article_title":"Influence of SLCO1B1 and CYP2C8 gene polymorphisms on rosiglitazone pharmacokinetics in healthy volunteers","article_path":"articles/PMC3525178.md","variant_annotation_id":1450935228,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*5, SLCO1B1*15, SLCO1B1*16","gene":"SLCO1B1","drugs":"rosiglitazone","pmid":19129086,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There were no significant differences in rosiglitazone pharmacokinetic parameters between SLCO1B1 diplotype groups. Note *17 was listed in the original publication. *17 was merged with *15 due to PharmVar 2021 update.","sentence":"SLCO1B1 *5 + *15 + *16 are not associated with concentrations of rosiglitazone in healthy individuals as compared to SLCO1B1 *1/*1.","alleles":"*5 + *15 + *16","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4806848","article_title":"Genome-Wide Pharmacogenomic Study on Methadone Maintenance Treatment Identifies SNP rs17180299 and Multiple Haplotypes on CYP2B6, SPON1, and GSG1L Associated with Plasma Concentrations of Methadone R- and S-enantiomers in Heroin-Dependent Patients","article_path":"articles/PMC4806848.md","variant_annotation_id":1448256709,"variant_haplotypes":"rs17180299","gene":null,"drugs":"methadone","pmid":27010727,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study specifically found an association with R-methadone enantiomer concentration. The association with the G allele was a dose effect, with patients with the GG genotyping having higher concentrations than patients with AG genotype. Patients included were heroin-dependent.","sentence":"Genotypes AG + GG are associated with increased concentrations of methadone in people with Opioid-Related Disorders as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3034442","article_title":"Glycine and a Glycine Dehydrogenase (GLDC) SNP as Citalopram/Escitalopram Response Biomarkers in Depression: Pharmacometabolomics-informed Pharmacogenomics","article_path":"articles/PMC3034442.md","variant_annotation_id":769164370,"variant_haplotypes":"rs10975641","gene":"GLDC","drugs":"citalopram, escitalopram","pmid":21107318,"phenotype_category":"Efficacy","significance":"yes","notes":"Be careful- GC SNP. The paper states that the minor allele was assoc with decreased odds for remission(in the original cohort), and from dbSNP freq/orientation of fastA compared to Golden path, I believe G on the + chr strand to be the minor allele. For the STAR*D study, remission was not found to be significantly associated; the significant association was with \"the binary phenotype \"response\"\".","sentence":"Allele G is associated with increased response to citalopram and escitalopram in people with Depressive Disorder, Major as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114766,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and virologic suppression in patients treated with lopinavir/ritonavir. Variant referred to in the paper as C3435T.","sentence":"Allele A is not associated with response to lopinavir or ritonavir in children with HIV Infections as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3505921","article_title":"Influence of Methylenetetrahydrofolate Reductase C677T, A1298C, and G80A Polymorphisms on the Survival of Pediatric Patients with Acute Lymphoblastic Leukemia","article_path":"articles/PMC3505921.md","variant_annotation_id":1451506260,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"methotrexate","pmid":23198157,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AA genotype had better overall survival than patients with the AG or GG genotypes. Variant referred to in the paper as C677T. Please note that alleles have been complemented to the positive strand.","sentence":"Genotype AA is associated with increased response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472420,"variant_haplotypes":"rs17708472","gene":"VKORC1","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"no","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"Allele A is not associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6773496","article_title":"\u03b22-Adrenergic Receptor Gene Affects the Heart Rate Response of \u03b2-Blockers: Evidence From 3 Clinical Studies","article_path":"articles/PMC6773496.md","variant_annotation_id":1451107100,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"atenolol, metoprolol","pmid":31090079,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AA genotype had a significantly greater decrease in heart rate than patients with the AG or GG genotypes. Note that this association was only significant in white patients.","sentence":"Genotype AA is associated with increased response to atenolol or metoprolol in people with Tachycardia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tachycardia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501734,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was significant in the whole cohort, but not when looking at African American or Caucasian patient sub-cohorts. The C allele occured at a higher frequency in African Americans compared to Caucasians, and the authors suggest that this association may be due to differences in the racial groups (African Americans had a significantly lower clearance p=0.006 and longer half-life p=0.01 of the drug as compared with Caucasians).","sentence":"Genotype TT is associated with increased clearance of carbamazepine in people with Epilepsy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC10091789","article_title":"Calcium\u2010channel blockers: Clinical outcome associations with reported pharmacogenetics variants in 32\u2009000 patients","article_path":"articles/PMC10091789.md","variant_annotation_id":1451895321,"variant_haplotypes":"rs10898815","gene":"NUMA1","drugs":"Dihydropyridine derivatives","pmid":36134646,"phenotype_category":"Other","significance":"yes","notes":"\"The association for AA was still significant after BenjaminiHochberg adjustment for multiple statistical testing (adjusted p=0.04).\"","sentence":"Genotypes AA + AG is associated with increased discontinuation of Dihydropyridine derivatives as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3776990","article_title":"S-1 plus irinotecan and oxaliplatin for the first-line treatment of patients with metastatic colorectal cancer: a prospective phase II study and pharmacogenetic analysis","article_path":"articles/PMC3776990.md","variant_annotation_id":1184510940,"variant_haplotypes":"UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan, oxaliplatin, tegafur / gimeracil / oteracil","pmid":23963147,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the objective response rate was seen between those with the *28 allele (54% responders) and those without one (79%).","sentence":"UGT1A1 *28 is not associated with response to irinotecan, oxaliplatin and s 1 (combination) in people with Colorectal Neoplasms.","alleles":"*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755924,"variant_haplotypes":"rs4788184","gene":"LRP1","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6179259","article_title":"KIF6 gene as a pharmacogenetic marker for lipid-lowering effect in statin treatment","article_path":"articles/PMC6179259.md","variant_annotation_id":1449748084,"variant_haplotypes":"rs20455","gene":"KIF6","drugs":"rosuvastatin","pmid":30304062,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. Statistically significant association only seen between genotype and change in c-HDL","sentence":"Genotype GG is associated with decreased response to rosuvastatin in people with Hypercholesterolemia as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5057355","article_title":"Impact of cytochrome P450 2C19 polymorphisms on the pharmacokinetics of tacrolimus when coadministered with voriconazole","article_path":"articles/PMC5057355.md","variant_annotation_id":1447672688,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"voriconazole","pmid":26239045,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The maximum plasma concentration (Cmax) and area under the plasma concentration time curve from 0 to 12 hours (AUC0-12) was higher in intermediate metabolizers (*1/*2 n=2; *1/*3 n=4) as compared to extensive metabolizers (*1/*1 n=6).","sentence":"CYP2C19 *1/*2 + *1/*3 is associated with increased concentrations of voriconazole in healthy individuals as compared to CYP2C19 *1/*1.","alleles":"*1/*2 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4892230","article_title":"CYP2B6*6 and CYP2B6*18 Predict Long-Term Efavirenz Exposure Measured in Hair Samples in HIV-Positive South African Women","article_path":"articles/PMC4892230.md","variant_annotation_id":1448994001,"variant_haplotypes":"CYP2B6*1, CYP2B6*18","gene":"CYP2B6","drugs":"efavirenz","pmid":26655325,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2B6 *18 is associated with increased concentrations of efavirenz in people with HIV as compared to CYP2B6 *1/*1.","alleles":"*18","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699006,"variant_haplotypes":"rs498974","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4707035","article_title":"Evaluation of genetic association of neurodevelopment and neuroimmunological genes with antipsychotic treatment response in schizophrenia in Indian populations","article_path":"articles/PMC4707035.md","variant_annotation_id":1447681659,"variant_haplotypes":"rs2513265","gene":null,"drugs":"antipsychotics","pmid":26788534,"phenotype_category":"Efficacy","significance":"yes","notes":"In low severity schizophrenia patient subgroup","sentence":"Allele A is associated with increased response to antipsychotics in people with Schizophrenia as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184510970,"variant_haplotypes":"CYP2D6*4, CYP2D6*5","gene":"CYP2D6","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Pharmacokinetic model: gender and CYP2D6 metabolizer status explained 11% of the overall variability in donepezil clearance. Model-based simulations were also performed to compared predicted average plasma concentrations with a 10mg once daily dosage regimen suggesting a 43% increase in average plasma concentrations for poor metabolizers. Extensive metabolizers were grouped together (diplotypes *1/*3, *1/*4, *1/*5, *1/*6, *1/*1, *4/*1xN, *6/*1xN).","sentence":"CYP2D6 *4/*4 + *4/*5 (assigned as poor metabolizer phenotype) is associated with decreased clearance of donepezil in people with Alzheimer Disease.","alleles":"*4/*4 + *4/*5","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7455128","article_title":"Pharmacogenomics of aromatase inhibitors in postmenopausal breast cancer and additional mechanisms of anastrozole action","article_path":"articles/PMC7455128.md","variant_annotation_id":1451357620,"variant_haplotypes":"rs6990851","gene":"CSMD1","drugs":"anastrozole","pmid":32701512,"phenotype_category":"Efficacy","significance":"yes","notes":"The G allele was significantly associated with a longer breast cancer free interval (BCFI) in MA.27 trial participants. Subsequent in vitro work provided functional validation by demonstrating that the G allele causes expression of CSMD1 to increase in the presence of anastrozole, which results in SMAD3 activation and increased expression of CYP19A1.","sentence":"Allele G is associated with increased response to anastrozole in women with Breast Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC7319006","article_title":"Influence of SLCO1B1 polymorphisms on lopinavir C trough in Serbian HIV/AIDS patients","article_path":"articles/PMC7319006.md","variant_annotation_id":1451116362,"variant_haplotypes":"rs11045819","gene":"SLCO1B1","drugs":"lopinavir","pmid":32022294,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Although the A allele was initially found to be significantly associated with decreased trough concentrations of lopinavir, this significance was lost following multivariate regression analysis.","sentence":"Allele A is not associated with trough concentration of lopinavir in people with HIV Infections as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7655626","article_title":"Pharmacogenetic Interactions of Rifapentine plus Isoniazid with Efavirenz or Nevirapine","article_path":"articles/PMC7655626.md","variant_annotation_id":1451308160,"variant_haplotypes":"CYP2B6 poor metabolizer","gene":"CYP2B6","drugs":"efavirenz","pmid":32815870,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"CYP2B6 poor metabolizers had greater efavirenz concentrations at all weeks.","sentence":"CYP2B6 poor metabolizer is associated with increased concentrations of efavirenz in people with HIV Infections.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356781,"variant_haplotypes":"rs3774932","gene":"NFKB1","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5421731","article_title":"Candidate\u2010Gene Study of Functional Polymorphisms in SLCO1B1 and CYP3A4/5 and the Cholesterol\u2010Lowering Response to Simvastatin","article_path":"articles/PMC5421731.md","variant_annotation_id":1448624730,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"simvastatin","pmid":28482130,"phenotype_category":"Efficacy","significance":"no","notes":"in African American.","sentence":"Allele C is not associated with response to simvastatin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359240,"variant_haplotypes":"rs10770141","gene":"TH","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"Although an association was initially observed, it lost significance following Bonferroni correction.","sentence":"Allele G is not associated with response to heroin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811804,"variant_haplotypes":"rs648893","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. No significant association between this variant and any individual item or total score on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele G is not associated with response to ethanol as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC10349800","article_title":"Correlation of N-acetyltransferase 2 genotype and acetylation status with plasma isoniazid concentration and its metabolic ratio in ethiopian tuberculosis patients","article_path":"articles/PMC10349800.md","variant_annotation_id":1452191960,"variant_haplotypes":"NAT2*4, NAT2*6, NAT2*7, NAT2*14, NAT2*16","gene":"NAT2","drugs":"acetylisoniazid","pmid":37454203,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Originally annotated as NAT2 *5/*14 + *5/*5 + *5/*6 + *5/*7 + *6/*14 + *6/*6 + *6/*7 (assigned as slow acetylator phenotype) compared to NAT2 *4/*14 + *4/*5 + *4/*6 + *4/*7 (assigned as intermediate acetylator phenotype). \"A significant difference in acetyl-isoniazid concentration was observed between slow and intermediate (p\u2009<\u20090.001) and slow and fast (p\u2009=\u20090.001) acetylators.\" \"The frequency distribution of NAT2*4, *5, *6, *7, and *14 alleles in Ethiopian tuberculosis patients were 14.6%, 47.1%, 31.3%, 5.4%, and 1.7%, respectively. \" Based on the Methods section the alleles are determined the following each SNP: C___1204093_20 for NAT2*5 (c.341 T>C, rs1801280), C___1204091_10 for NAT2*6 (c.590G>A, rs1799930), C____572770_20 for NAT2*7 (c.857G>A, rs1799931), C____572770_20 for NAT2*14 (191G>A, rs1801279). Those are mapped for the annotation to *16, *6, *7, *14 as those are defined by the single SNPs.; The arylamine N-acetyltransferases (NATs) database was transitioned into the PharmVar database in March 2024. The alleles in this annotation are mapped as following: NAT2*14A under the *14 core allele; NAT2*5D under the *16 core allele; NAT2*6B under the *6 core allele; NAT2*7A under the *7 core allele.","sentence":"NAT2 *16/*14 + *16/*16 + *16/*6 + *16/*7 + *6/*14 + *6/*6 + *6/*7 (assigned as slow acetylator phenotype) is associated with decreased concentrations of acetylisoniazid in people with Tuberculosis as compared to NAT2 *4/*14 + *4/*16 + *4/*6 + *4/*7 (assigned as intermediate acetylator phenotype) .","alleles":"*16/*14 + *16/*16 + *16/*6 + *16/*7 + *6/*14 + *6/*6 + *6/*7","specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*4/*14 + *4/*16 + *4/*6 + *4/*7","comparison_metabolizer_types":"intermediate acetylator"} +{"pmcid":"PMC4456129","article_title":"Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity","article_path":"articles/PMC4456129.md","variant_annotation_id":1444695477,"variant_haplotypes":"rs11188072","gene":"CYP2C19","drugs":"methadone","pmid":25556837,"phenotype_category":"Dosage","significance":"no","notes":"Methadone maintenance dose was not associated with genotype of the SNP but it was correlated to the highest dose ever used. Multiple doses versus single dose, body weight, history of cocaine dependence and ethnicity (Asian>Caucasian>African) were independently associated with methadone dose in multiple regression analysis. Please note: alleles were complemented to the + chromosomal strand.","sentence":"Allele C is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114771,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and clearance of lopinavir or ritonavir in patients treated with lopinavir/ritonavir. Variant referred to in the paper as C3435T.","sentence":"Allele A is not associated with clearance of lopinavir or ritonavir in children with HIV Infections as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4343187","article_title":"CHRNA4 rs1044396 is associated with smoking cessation in varenicline therapy","article_path":"articles/PMC4343187.md","variant_annotation_id":1445402159,"variant_haplotypes":"rs2072660","gene":"CHRNB2","drugs":"varenicline","pmid":25774163,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotypes CT + TT are not associated with response to varenicline in people with Tobacco Use Disorder as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954077,"variant_haplotypes":"rs228642","gene":"PER3","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC10747255","article_title":"CYP3A5*3 and CYP3A4*22 Cluster Polymorphism Effects on LCP-Tac Tacrolimus Exposure: Population Pharmacokinetic Approach","article_path":"articles/PMC10747255.md","variant_annotation_id":1452348210,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":38140040,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Statistically significant (p < 0.001) differences were found when comparing normalized by dose AUC values between CYP3A5 *1 expressers vs. non-expressers. Similarly, statistically significant (p < 0.001) differences were found when comparing C0 normalized by a dose of CYP3A5 *1 expressers vs. non-expressers.\"","sentence":"CYP3A5 *3/*3 is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171069,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"methadone","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with concentrations of methadone as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3834132","article_title":"CYP2B6 Pharmacogenetics\u2013Based In Vitro\u2013In Vivo Extrapolation of Efavirenz Clearance by Physiologically Based Pharmacokinetic Modeling","article_path":"articles/PMC3834132.md","variant_annotation_id":1184510497,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":23846872,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Following a 600-mg oral dose of efavirenz, no significant difference in oral clearance was seen between the two genotype groups. However, the authors suggest this is due to an inadequate number of subjects with the *6/*6 genotype (n=3). Those with the *6/*6 genotype had a 30% reduction in clearance and a 27% increase in area under the concentration-time curve from 0-infinity (AUC0-inf).","sentence":"CYP2B6 *1/*1 + *1/*6 is not associated with clearance of efavirenz in healthy individuals as compared to CYP2B6 *6/*6.","alleles":"*1/*1 + *1/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*6/*6","comparison_metabolizer_types":null} +{"pmcid":"PMC2668081","article_title":"Contribution of the activities of CYP3A, CYP2D6, CYP1A2 and other potential covariates to the disposition of methadone in patients undergoing methadone maintenance treatment","article_path":"articles/PMC2668081.md","variant_annotation_id":1451158020,"variant_haplotypes":"CYP2D6 poor metabolizer phenotype","gene":"CYP2D6","drugs":"methadone","pmid":19133059,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"CYP2D6 phenotype, as assessed by dextromethorphan metabolism did not significantly contribute to variance in methadone trough plasma concentrations.","sentence":"CYP2D6 poor metabolizer is not associated with trough concentration of methadone as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC8455325","article_title":"AHR-dependent genes and response to MTX therapy in rheumatoid arthritis patients","article_path":"articles/PMC8455325.md","variant_annotation_id":1451799880,"variant_haplotypes":"rs2292596","gene":"AHRR","drugs":"methotrexate","pmid":34302046,"phenotype_category":"Efficacy","significance":"not stated","notes":"The authors state that there is an association, but the significance is unclear and requires further functional studies.","sentence":"Allele G is associated with decreased response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC9468554","article_title":"Impact of the novel CYP2C:TG haplotype and CYP2B6 variants on sertraline exposure in a large patient population","article_path":"articles/PMC9468554.md","variant_annotation_id":1452014760,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"sertraline","pmid":35668575,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Compared with the ref- erence group (CYP2C19*1/*1), a lower sertraline serum concentration was observed in CYP2C19*17/*17 (21.6% decrease, n = 44, p = 0.003), CYP2C:TG/CYP2C:TG (21.2% decrease, n = 26, p = 0.022), CYP2C19*17/ CYP2C:TG (20.0% decrease, n = 65, p = 0.003), and CYP2C19*1/*17 (17.0% decrease, n = 150, p < 0.001).","sentence":"CYP2C19 *1/*17 + *17/*17 are associated with decreased concentrations of sertraline as compared to CYP2C19 *1/*1.","alleles":"*1/*17 + *17/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5065384","article_title":"Efavirenz inhibits the human ether-a-go-go related current (hERG) and induces QT interval prolongation in CYP2B6*6*6 allele carriers","article_path":"articles/PMC5065384.md","variant_annotation_id":1448995845,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":27333947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2B6 *6/*6 is associated with increased concentrations of efavirenz in healthy individuals as compared to CYP2B6 *1/*1 + *1/*6.","alleles":"*6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*6","comparison_metabolizer_types":null} +{"pmcid":"PMC4025175","article_title":"The influence of CYP3A, PPARA, and POR genetic variants on the pharmacokinetics of tacrolimus and cyclosporine in renal transplant recipients","article_path":"articles/PMC4025175.md","variant_annotation_id":1184407399,"variant_haplotypes":"rs4253728","gene":"PPARA","drugs":"tacrolimus","pmid":24658827,"phenotype_category":"Metabolism/PK","significance":"no","notes":"A single steady-state concentration of tacrolimus was collected for each patient 2-7 wks post-transplant and compared to dose of tacrolimus administered to patients at Oslo University Hospital. Reported concentrations are \"steady-state dose-adjusted concentration\" of tacrolimus. Steady-state is defined as at least 3 days after last dose adjustment for Tac and 4 days for cyclosporine.","sentence":"Genotype AA is not associated with metabolism of tacrolimus in people with Kidney Transplantation as compared to allele G.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4609097","article_title":"Ivacaftor in a young boy with the rare gating mutation S549R - use of lung clearance index to track progress: a case report","article_path":"articles/PMC4609097.md","variant_annotation_id":1449192465,"variant_haplotypes":"rs121909005","gene":"CFTR","drugs":"ivacaftor","pmid":26474553,"phenotype_category":"Efficacy","significance":"not stated","notes":"Case report of a pediatric cystic fibrosis patient (genotype S549R/1717-1G>A) being treated with ivacaftor. Improvements in body weight, cough frequency, sputum production, physical performance, sweat chloride level and FEV1 were reported following six weeks of treatment. Paper does not state if rs121908757 or rs121909005 is the causative variant of S549R.","sentence":"Allele G is associated with response to ivacaftor in children with Cystic Fibrosis.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995765,"variant_haplotypes":"rs10102851","gene":"ANGPT2","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3988270","article_title":"Genetic variation in OPRD1 and the response to treatment for opioid dependence with buprenorphine in European American females","article_path":"articles/PMC3988270.md","variant_annotation_id":1184513720,"variant_haplotypes":"rs529520","gene":"OPRD1","drugs":"buprenorphine","pmid":24126707,"phenotype_category":"Efficacy","significance":"yes","notes":"Opioid dependence. Four cohorts were analyzed. The first three were women taking buprenorphine or methadone, women taking only buprenorphine and women taking only methadone, where opiod-positive urine drug screens or missing urine drug screens were both considered a \"positive\" drug screen. The fourth was women taking only buprenorphine were missing urine drug screens were coded as \"missing\" and not as \"positive\". No significant results were seen when considering women only taking methadone, but significant results were seen for all other cohorts: women with the AA genotype were more likely to have opioid-; \"positive\" urine drug screens, as compared to those with the CC genotype. Patients were treated with buprenorphine or methadone for 24 weeks.","sentence":"Genotype AA is associated with decreased response to buprenorphine in women with Opioid-Related Disorders as compared to genotype CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3682424","article_title":"A preliminary pharmacogenetic investigation of adverse events from topiramate in heavy drinkers","article_path":"articles/PMC3682424.md","variant_annotation_id":1184749261,"variant_haplotypes":"rs2832407","gene":"GRIK1","drugs":"topiramate","pmid":19331489,"phenotype_category":"Efficacy","significance":"yes","notes":"75.5% of participants met the criteria for an alcohol use disorder. At target dose (week 5 of treatment), carriers of the A allele reported a higher percentage of heavy drinking days (%HDD), as compared to those with the CC genotype (controlling for baseline %HDD).","sentence":"Genotypes AA + AC is associated with decreased response to topiramate in people with Alcohol-Related Disorders as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3985268","article_title":"Variation in P450 oxidoreductase (POR) A503V and flavin containing monooxygenase (FMO)-3 E158K is associated with minor alterations in nicotine metabolism but does not alter cigarette consumption","article_path":"articles/PMC3985268.md","variant_annotation_id":1183703319,"variant_haplotypes":"rs2266782","gene":"FMO3","drugs":"nicotine","pmid":24448396,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was described as a trend towards higher nicotine AUC. Participants received 4 mg oral nicotine.","sentence":"Genotypes AA + AG is associated with decreased metabolism of nicotine in CYP2A6 reduced, but not normal, metabolizers as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in","population_phenotypes_or_diseases":"PK:CYP2A6 reduced, but not normal, metabolizers","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3984158","article_title":"Verification of Pharmacogenetics-Based Warfarin Dosing Algorithms in Han-Chinese Patients Undertaking Mechanic Heart Valve Replacement","article_path":"articles/PMC3984158.md","variant_annotation_id":1184169091,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":24728385,"phenotype_category":"Dosage","significance":"yes","notes":"The goal of this study was to compare the accuracy of 8 different warfarin dosing algorithms, including the IWPC, and 6 Han Chinese PGx warfarin dosing algorithms, in Han Chinese patients taking warfarin scheduled to undergo mechanic heart valve replacement surgery. The authors concluded that the mean absolute error (MAE) of all algorithms was less than 0.6mg/day in initial and stable doses, and the percentage of patients whose actual doses were within 20% of their predicted dose was 45% in all algorithms. Predictive power of algorithms was highest for patients in the ideal-dose range and lowest for patients in the low and high dose range.; The most accurate predictions came from three Han-Chinese PGx warfarin dosing algorithms (Du et al. 2010, Huang et al. 2009, Miao et al. 2007).","sentence":"Genotype AA is associated with decreased dose of warfarin in people with heart valve replacement as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2518836","article_title":"Epithelial Neutrophil-Activating Peptide (ENA-78), Acute Coronary Syndrome Prognosis, and Modulatory Effect of Statins","article_path":"articles/PMC2518836.md","variant_annotation_id":982028484,"variant_haplotypes":"rs352046","gene":"CXCL5","drugs":"hmg coa reductase inhibitors","pmid":18769620,"phenotype_category":"Efficacy","significance":"yes","notes":"Since this is a GC SNP, there is the possibility of stranding error. The CXCL5 gene is on the negative chromosomal strand, so I complemented the reported results, which are: GG patients on statins showed a significant, 58% relative risk reduction (p = 0.0009);GC patients on statins showed a non-significant 25% relative risk reduction(p = 0.48), and CC patients on statins showed a non-significant 39% relative risk INCREASE (p = 0.46).","sentence":"Genotype CC is associated with increased response to hmg coa reductase inhibitors in people with Acute coronary syndrome as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Acute coronary syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4800352","article_title":"Development and Comparison of Warfarin Dosing Algorithms in Stroke Patients","article_path":"articles/PMC4800352.md","variant_annotation_id":1448267948,"variant_haplotypes":"CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":26996562,"phenotype_category":"Dosage","significance":"not stated","notes":"This study undertook the development of a warfarin pharmacogenetic dosing algorithm and then compared it against other dosing algorithms. This variant was included in the algorithm. However, note that there was no significant difference in stable warfarin dose between patients with the *1/*1 genotype (3.8+/1.4 mg/day) and the *1/*3 genotype (2.6+/-0.5 mg/day); only 4 patients carried the *3 allele.","sentence":"CYP2C9 *3 is associated with dose of warfarin in people with Stroke.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Stroke","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11359404","article_title":"Genetic Variation in CYP2D6, UGT1A4, SLC6A2 and SLCO1B1 Alters the Pharmacokinetics and Safety of Mirabegron","article_path":"articles/PMC11359404.md","variant_annotation_id":1452574500,"variant_haplotypes":"CYP2D6 intermediate metabolizer","gene":"CYP2D6","drugs":"mirabegron","pmid":39204422,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"No CYP2D6 poor metabolizers (PMs) were available in this research.\" \"A higher t1/2 was observed in CYP2D6 intermediate metabolizers (IMs) compared to ultrarapid (UMs) and normal metabolizers (NMs) (puv = 0.028). Significance was transformed into a tendency after Bonferroni post hoc tests (NMs vs. IMs, puv = 0.074, UMs vs. IMs puv = 0.124 and NMs vs. UMs puv = 0.624). However, the t1/2 remained significantly higher in IMs compared to UMs and NMs merged in a unique group (UMs + NMs) (puv = 0.018). Differences in the t1/2 were accompanied by a not significantly lower AUC/DW and Cmax/DW in CYP2D6 UMs compared to NMs and IMs.\"","sentence":"CYP2D6 intermediate metabolizer is associated with increased half-life time of mirabegron in healthy individuals as compared to CYP2D6 normal metabolizer and ultrarapid metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"half-life time of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and ultrarapid metabolizer"} +{"pmcid":"PMC3523080","article_title":"PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients","article_path":"articles/PMC3523080.md","variant_annotation_id":1184512540,"variant_haplotypes":"rs2472677","gene":"NR1I2","drugs":"efavirenz","pmid":23173844,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Plasma levels of efavirenz were not statistically significantly different between the CC, CT, TT genotypes of this SNP.","sentence":"Genotype CC is not associated with metabolism of efavirenz in people with HIV Infections as compared to genotype TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC7388522","article_title":"The association between serotonin-related gene polymorphisms and susceptibility and early sertraline response in patients with panic disorder","article_path":"articles/PMC7388522.md","variant_annotation_id":1452054740,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"sertraline","pmid":32723321,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"SLC6A4 HTTLPR short form (S allele) is associated with decreased response to sertraline in people with Panic Disorder as compared to SLC6A4 HTTLPR long form (L allele).","alleles":"HTTLPR short form (S allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Panic Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR long form (L allele)","comparison_metabolizer_types":null} +{"pmcid":"PMC11509751","article_title":"Bleeding Events Associated with Rivaroxaban Therapy in Naive Patients with Nonvalvular Atrial Fibrillation: A Longitudinal Study from a Genetic Perspective with INR Follow-Up","article_path":"articles/PMC11509751.md","variant_annotation_id":1452654550,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"rivaroxaban","pmid":39459499,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"In our study, we found that for ABCB1-related rs4148738 and rs2032582, there was a statistically significant difference between the wild and mutant genotypes and a decrease in the CDR max values of rivaroxaban, while CDRss was statistically significant between the wild and homozygous mutant genotypes. For rs1045642 and rs1128503 of ABCB1, the decreased CDR max and Css levels of rivaroxaban were statistically significant between the wild (AA) and mutant (AG, GG) genotypes. Our findings suggest that polymorphism in the P-glycoprotein expressed by the ABCB1 gene can affect the peak plasma levels of rivaroxaban.\"","sentence":"Genotypes AG + GG is associated with decreased concentrations of rivaroxaban in people with Atrial Fibrillation as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5249113","article_title":"Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis","article_path":"articles/PMC5249113.md","variant_annotation_id":1448995964,"variant_haplotypes":"rs7234029","gene":"PTPN2","drugs":"adalimumab","pmid":28107378,"phenotype_category":"Efficacy","significance":"no","notes":"A significant association between rs7234029 and response to adalimumab as determined by EULAR score was seen at six months after beginning treatment however this significance was lost upon correction for multiple variables. No significant association was seen at two years after beginning treatment.; No significant associations were seen at either time point when response was measured as number of patients in remission or with low disease activity.","sentence":"Allele G is not associated with response to adalimumab in people with Arthritis, Rheumatoid as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4692529","article_title":"A Randomized Trial of Pharmacogenetic Warfarin Dosing in Na\u00efve Patients with Non-Valvular Atrial Fibrillation","article_path":"articles/PMC4692529.md","variant_annotation_id":1448276496,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":26710337,"phenotype_category":"Dosage","significance":"not stated","notes":"This study assessed whether a pharmacogenetic dosing algorithm, which included this variant as well as the CYP2C9*2, CYP2C9*3 and CYP4F2*3 variants, is superior in overall anticoagulation control when compared to clinical standard of care. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele T is associated with dose of warfarin.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10349379","article_title":"Genetic Factors Associated with Morphine Consumption in Women Undergoing Laparoscopic Cholecystectomy: A Prospective Cohort Study","article_path":"articles/PMC10349379.md","variant_annotation_id":1452192660,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"morphine","pmid":37456358,"phenotype_category":"Dosage","significance":"yes","notes":"All patients were Arab women undergoing laparoscopic cholecystectomy. \"Both OPRM1 (rs1799971, A>G), and rs2952768 (T>C) showed statistically significant association with IO total morphine dose requirements. Patients carrying OPRM1 minor allele (GG) and (AG) genotypes had a significantly higher total morphine mean rank compared to the AA genotype [62.9 vs 47.1\"","sentence":"Genotypes AG + GG is associated with increased dose of morphine in women with Pain, Postoperative as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755994,"variant_haplotypes":"rs896412","gene":"TMEM205","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele G is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7455128","article_title":"Pharmacogenomics of aromatase inhibitors in postmenopausal breast cancer and additional mechanisms of anastrozole action","article_path":"articles/PMC7455128.md","variant_annotation_id":1451356971,"variant_haplotypes":"rs2449598","gene":"DLG2","drugs":"anastrozole","pmid":32701512,"phenotype_category":"Efficacy","significance":"yes","notes":"Response was measured by the decrease in estrogen levels over the course of treatment.","sentence":"Allele T is associated with decreased response to anastrozole in women with Breast Neoplasms as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862234,"variant_haplotypes":"rs2239393","gene":"COMT","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs2075507,rs7287550, rs5746849, rs737866, rs6269, rs740603, rs4818, rs4680, rs174699, rs165728). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here.","sentence":"Allele A is associated with decreased dose of morphine in people with Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2913479","article_title":"Association of Genetic Variation in Cystathionine-\u03b2-Synthase and Arsenic Metabolism","article_path":"articles/PMC2913479.md","variant_annotation_id":769165237,"variant_haplotypes":"rs4920037","gene":"CBS","drugs":"Arsenic compounds","pmid":20670920,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"measured as as excreted monomethylarsonic acid.","sentence":"Genotypes AA + AG are associated with increased metabolism of Arsenic compounds as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC8702453","article_title":"Comprehensive characterization of pharmacogenetic variants in TPMT and NUDT15 in children with acute lymphoblastic leukemia","article_path":"articles/PMC8702453.md","variant_annotation_id":1451722660,"variant_haplotypes":"rs12199316","gene":"TPMT","drugs":"mercaptopurine","pmid":34412101,"phenotype_category":"Dosage","significance":"yes","notes":"Since this is a C/G non-coding variant in gene on minus strand, confirmed with authors that the allele associated with increased dose is G as measured on plus chromosomal strand.","sentence":"Allele G is associated with increased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele C.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6426691","article_title":"Genome-wide association analysis of common genetic variants of resistant hypertension","article_path":"articles/PMC6426691.md","variant_annotation_id":1451100046,"variant_haplotypes":"rs324498","gene":"PTPRD","drugs":"Antihypertensives","pmid":30237584,"phenotype_category":"Efficacy","significance":"no","notes":"The G allele was associated with increased odds of a patient developing resistant-hypertension. Participants were classified as having resistant hypertension if their SBP was \u2265140 or DBP \u2265 90 using three or more medications, or if they were using four or greater antihypertensive medications regardless of BP. However, this SNP failed to reach genome-wide significance in either the INVEST or SPS3 cohorts or when both cohorts were combined. Additionally, this association could not be validated in an eMERGE dataset.","sentence":"Allele G is associated with decreased response to Antihypertensives in people with Hypertension as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6586010","article_title":"No Clinical Impact of CYP3A5 Gene Polymorphisms on the Pharmacokinetics and/or Efficacy of Maraviroc in Healthy Volunteers and HIV\u20101\u2013Infected Subjects","article_path":"articles/PMC6586010.md","variant_annotation_id":1450371799,"variant_haplotypes":"CYP3A5 poor metabolizers","gene":"CYP3A5","drugs":"maraviroc","pmid":30192390,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In study A4001110, black CYP3A5 poor metabolizers had a significant increase in average maraviroc plasma concentrations compared to black extensive metabolizers. The authors determined this difference in maraviroc concentrations to not be clinically significant.","sentence":"CYP3A5 poor metabolizer is associated with increased concentrations of maraviroc in people with HIV Infections as compared to CYP3A5 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373168,"variant_haplotypes":"rs6912029","gene":"OPRM1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not significantly associated with compliance with methadone maintenance therapy or 'negative rate of morphine urine test'.","sentence":"Allele G is not associated with response to methadone in people with Heroin Dependence as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163088,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5427048","article_title":"The Pharmacogenetics of Tacrolimus in Corticosteroid-Sparse Pediatric and Adult Kidney Transplant Recipients","article_path":"articles/PMC5427048.md","variant_annotation_id":1448603925,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":28229376,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A5 *1/*1 + *1/*3 is associated with trough concentration of tacrolimus in children with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC9301121","article_title":"CYP2A6 and GABRA2 Gene Polymorphisms are Associated With Dexmedetomidine Drug Response","article_path":"articles/PMC9301121.md","variant_annotation_id":1452141983,"variant_haplotypes":"rs28399433","gene":"CYP2A6","drugs":"dexmedetomidine","pmid":35873555,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Female patients aged 18\u201360 years undergoing laparoscopic with ASA I-II [ASA I: normal healthy patients; ASA II: patients with mild systemic disease\". \"Dexmedetomidine was continuous intravenous infused at 1 \u03bcg/kg for 10 min before the induction period of general anesthesia.\"\"harmacokinetic studies were performed on 99 participants, and pharmacodynamic studies were performed on all participants. All participants had 5 ml of peripheral blood sampled preoperatively for DNA isolation and genetic testing.\"","sentence":"Allele C is associated with decreased clearance of dexmedetomidine in women as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC9820603","article_title":"Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks","article_path":"articles/PMC9820603.md","variant_annotation_id":1452569946,"variant_haplotypes":"rs1143634","gene":"IL1B","drugs":"aspirin, diclofenac, ibuprofen, indomethacin, ketorolac, naproxen","pmid":36614097,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with clinical benefit to aspirin, diclofenac, ibuprofen, indomethacin, ketorolac or naproxen in people with Migraine without Aura as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5148898","article_title":"Genetic polymorphisms of patients on stable warfarin maintenance therapy in a Ghanaian population","article_path":"articles/PMC5148898.md","variant_annotation_id":1448602262,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":27938396,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Genotypes CT + TT is not associated with increased dose of warfarin in people with Atrial Fibrillation, Cardiomyopathies, heart valve replacement, Peripheral Vascular Diseases, Pulmonary Embolism and Venous Thrombosis as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation, Disease:Cardiomyopathies, Disease:Heart valve replacement, Disease:Peripheral Vascular Diseases, Disease:Pulmonary Embolism, Disease:Venous Thrombosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC10298263","article_title":"The Distribution of the Genotypes of ABCB1 and CES1 Polymorphisms in Kazakhstani Patients with Atrial Fibrillation Treated with DOAC","article_path":"articles/PMC10298263.md","variant_annotation_id":1452146180,"variant_haplotypes":"rs71647871","gene":"CES1","drugs":"dabigatran","pmid":37372371,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles complemented","sentence":"Allele T is not associated with decreased dose-adjusted trough concentrations of dabigatran in people with Atrial Fibrillation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5829963","article_title":"TCF7L2 Genetic Variation Augments Incretin Resistance and Influences Response to a Sulfonylurea and Metformin: The Study to Understand the Genetics of the Acute Response to Metformin and Glipizide in Humans (SUGAR-MGH)","article_path":"articles/PMC5829963.md","variant_annotation_id":1451105880,"variant_haplotypes":"rs7903146","gene":"TCF7L2","drugs":"glipizide","pmid":29326107,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by shorter time and a steeper slope to trough glucose levels in people with risk factors for type 2 diabetes.","sentence":"Allele T is associated with increased response to glipizide as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550232,"variant_haplotypes":"rs39339","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele G is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6246957","article_title":"Fc\u2010gamma receptor polymorphisms, cetuximab therapy, and overall survival in the CCTG CO.20 trial of metastatic colorectal cancer","article_path":"articles/PMC6246957.md","variant_annotation_id":1449752269,"variant_haplotypes":"rs396991","gene":"FCGR3A","drugs":"cetuximab","pmid":30318772,"phenotype_category":"Efficacy","significance":"no","notes":"Overall survival and progression-free survival were used as indicators of response to cetuximab.","sentence":"Allele C is not associated with response to cetuximab in people with Colorectal Neoplasms as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5469860","article_title":"Association of Polymorphisms in Pharmacogenetic Candidate Genes with Propofol Susceptibility","article_path":"articles/PMC5469860.md","variant_annotation_id":1448639482,"variant_haplotypes":"rs6313","gene":"HTR2A","drugs":"propofol","pmid":28611364,"phenotype_category":"Dosage","significance":"yes","notes":"Patients undergoing thyroid resection surgery. 46/146 of patients with the AA genotype had higher effect-site concentration (Cep) values for propofol (1.85\u00b10.96 \u00b5g/ml) versus the100/146 patients with the GA+GG genotypes (1.53\u00b10.76\u00b5g/ml). The AA genotype was also associated with longer onset times of propofol induction (3.12\u00b12.68min) versus the GA+GG genotypes (2.19\u00b11.53min). The G allele was also associated with less propofol and less time for propofol to induce anesthesia. Please note: the authors examined 58 SNPs but did not do multiple testing corrections.","sentence":"Genotype AA is associated with decreased dose of propofol as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":982046656,"variant_haplotypes":"rs1051740","gene":"EPHX1","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Patients with the CC genotype require significantly lower daily doses of phenprocoumon as compared to patients with the CT or TT genotype. While it seems that there may be a gene dose effect (TT>CT>CC), the paper did not specify whether or not this is the case. Daily dose is also negatively correlated with age. This study published an algorithm for daily dose that includes height, although height was not significant in univariate analysis. This SNP is not associated with differences in phenprocoumon concentration.","sentence":"Genotype CC is associated with decreased dose of phenprocoumon as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5711795","article_title":"Pharmacogenetic study of seven polymorphisms in three nicotinic acetylcholine receptor subunits in smoking-cessation therapies","article_path":"articles/PMC5711795.md","variant_annotation_id":1449156009,"variant_haplotypes":"rs16969968","gene":"CHRNA3, CHRNA5","drugs":"bupropion, nicotine, varenicline","pmid":29196725,"phenotype_category":"Efficacy","significance":"no","notes":"Authors looked at the effect of variants on response to the smoking cessation therapies varenicline, bupropion and nicotine replacement therapy.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to bupropion, nicotine and varenicline in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3264276","article_title":"Influence of NAT2 Polymorphisms on Sulfamethoxazole Pharmacokinetics in Renal Transplant Recipients","article_path":"articles/PMC3264276.md","variant_annotation_id":981477860,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"sulfamethoxazole","pmid":22106207,"phenotype_category":"Metabolism/PK","significance":"no","notes":"CYP2C9 *1/*3 and *1/*1 genotypes were compared, and no significant difference in plasma sulfamethoxazole AUC (0-24hr) was seen.","sentence":"Genotype AC is not associated with metabolism of sulfamethoxazole in people with Kidney Transplantation as compared to genotype AA.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC9256318","article_title":"Significance of CYP3A4\u22171G and OPRM1 A118G Polymorphisms in Postoperative Sufentanil Analgesia in Women of Different Ethnicities","article_path":"articles/PMC9256318.md","variant_annotation_id":1451838520,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"sufentanil","pmid":35799642,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of sufentanil in women with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5189722","article_title":"Effect of the Polymorphism of Folylpolyglutamate Synthetase on Treatment of High-Dose Methotrexate in Pediatric Patients with Acute Lymphocytic Leukemia","article_path":"articles/PMC5189722.md","variant_annotation_id":1451547383,"variant_haplotypes":"rs1544105","gene":"FPGS","drugs":"methotrexate","pmid":27987364,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. This association was only significant at the 24 hour timepoint.","sentence":"Genotype TT is associated with increased concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4296254","article_title":"\u00b5-Opioid Receptor Gene (OPRM1) Polymorphism A118G: Lack of Association in Finnish Populations with Alcohol Dependence or Alcohol Consumption","article_path":"articles/PMC4296254.md","variant_annotation_id":1450820267,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":23729673,"phenotype_category":"Dosage","significance":"no","notes":"No significant association between this variant and alcohol consumption.","sentence":"Allele G is not associated with dose of ethanol as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451974100,"variant_haplotypes":"rs10814270","gene":"TLN1","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with increased resistance to clopidogrel in people with Coronary Disease as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC9298338","article_title":"No significant influence of OCT1 genotypes on the pharmacokinetics of morphine in adult surgical patients","article_path":"articles/PMC9298338.md","variant_annotation_id":1451648640,"variant_haplotypes":"rs12208357","gene":"SLC22A1","drugs":"morphine","pmid":34599645,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Analyzed as part of haplotypes with rs34059508, rs72552763 and rs34130495. There was a non-significant trend for patients carrying reduced function alleles to have increased exposure to morphine, but the change in exposure is not large enough to be of clinical importance.","sentence":"Allele T is not associated with exposure to morphine in people with Pain, Postoperative as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10883345","article_title":"Effect of the NFIB rs28379954 T>C polymorphism on CYP2D6\u2010catalyzed metabolism of solanidine","article_path":"articles/PMC10883345.md","variant_annotation_id":1452389540,"variant_haplotypes":"rs28379954","gene":"NFIB","drugs":"solanidine","pmid":38385986,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The present study shows that the NFIB C variant is significantly associated with increased CYP2D6 metabolism of solanidine. A significant effect on solanidine metabolism was only seen in CYP2D6 NMs, which is compatible with the findings that the NFIB C variant modulates CYP2D6 gene expression and activity, which cannot occur in CYP2D6 PMs.\" \"\"CYP2D6\u2010genotyped patients, who had performed routine pharmacogenetic testing and therapeutic drug monitoring (TDM) of psychiatric drug,... excluding co\u2010medicated with the CYP2D6 inhibitors bupropion, fluoxetine, paroxetine, or levomepromazine\"","sentence":"Genotypes CC + CT is associated with increased metabolism of solanidine as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5548439","article_title":"Genetic coding variants in the niacin receptor, hydroxyl-carboxylic acid receptor 2 (HCAR2), and response to niacin therapy","article_path":"articles/PMC5548439.md","variant_annotation_id":1448635810,"variant_haplotypes":"rs7314976","gene":"HCAR2","drugs":"niacin","pmid":28628560,"phenotype_category":"Efficacy","significance":"no","notes":"The study compared statin + placebo treated patients with statin + extended release niacin treated patients from the from the Atherothrombosis Intervention in Metabolic Syndrome with Low HDL/High Triglycerides and Impact on Global Health Outcomes (AIM-HIGH) trial. No association of this variant (p.M317I) with changes in low-density lipoprotein cholesterol, triglycerides, lipoprotein a or high-density lipoprotein cholesterol at 1 year were found.","sentence":"Genotypes AA + AG is not associated with response to niacin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144256,"variant_haplotypes":"rs7588746","gene":null,"drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3658129","article_title":"Neurotrophic Tyrosine Kinase Receptor Type 2 (NTRK2) Gene Associated with Treatment Response to Mood Stabilizers in Patients with Bipolar I Disorder","article_path":"articles/PMC3658129.md","variant_annotation_id":981954223,"variant_haplotypes":"rs1565445","gene":"NTRK2","drugs":"lithium, valproic acid","pmid":23315174,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype AA is not associated with response to lithium or valproic acid in people with Bipolar Disorder as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2683977","article_title":"Use of Pharmacogenetic and Clinical Factors to Predict the Therapeutic Dose of Warfarin","article_path":"articles/PMC2683977.md","variant_annotation_id":827601694,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":18305455,"phenotype_category":"Dosage","significance":"yes","notes":"This variant was associated with a 28% reduction per allele (95% confidence interval 25-30%) in the therapeutic warfarin dose.","sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC9080200","article_title":"Influence of cytochrome P450 and glutathione S transferase polymorphisms on response to nilotinib therapy among chronic myeloidleukemia patients from Pakistan","article_path":"articles/PMC9080200.md","variant_annotation_id":1451782460,"variant_haplotypes":"rs1048943","gene":"CYP1A1","drugs":"nilotinib","pmid":35527244,"phenotype_category":"Efficacy","significance":"yes","notes":"alleles complimented to plus chromosomal strand. Rs number from PharmVar, effects reported for CYP1A1*2C A>G. Excerpt \"wild type CYP1A1, GSTP1 and GSTM1 deletion was significantly frequent in responders. The partial responders carried heterozygous mutant genotypes of CYP1A1\"","sentence":"Genotypes CT + TT is associated with increased response to nilotinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3909010","article_title":"Pharmacogenetic-Based Efavirenz Dose Modification: Suggestions for an African Population and the Different CYP2B6 Genotypes","article_path":"articles/PMC3909010.md","variant_annotation_id":1183764170,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":24497997,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Apparent clearance was 2.2 fold higher for CYP2B6 *1/*1 compared to CYP2B6 *6/*6 (p-value is not stated). The reported p-value are for differences in mean AUC between *6/*6 + rs3842 CC versus *1/*1 +rs3842 TT and between *6/*6 + rs3842 CC versus *6/*6 + rs3842 CT.","sentence":"CYP2B6 *1/*1 is associated with increased metabolism of efavirenz in people with HIV as compared to CYP2B6 *6/*6.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*6/*6","comparison_metabolizer_types":null} +{"pmcid":"PMC7039325","article_title":"A functional polymorphism in the ABCB1 transporter predicts pharmacologic response to combination of nortriptyline and morphine in neuropathic pain patients","article_path":"articles/PMC7039325.md","variant_annotation_id":1451133752,"variant_haplotypes":"CYP2C19 intermediate metabolizer","gene":"CYP2C19","drugs":"morphine, nortriptyline","pmid":31738228,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in improvement in pain scores between metabolizer groups.","sentence":"CYP2C19 intermediate metabolizer is not associated with response to morphine and nortriptyline in people with Pain as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359566,"variant_haplotypes":"rs10770141","gene":"TH","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of methadone in people with Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3805522","article_title":"Evaluating Predictive Pharmacogenetic Signatures of Adverse Events in Colorectal Cancer Patients Treated with Fluoropyrimidines","article_path":"articles/PMC3805522.md","variant_annotation_id":1448124443,"variant_haplotypes":"rs56038477","gene":"DPYD","drugs":"capecitabine, fluorouracil","pmid":24167597,"phenotype_category":"Dosage","significance":"yes","notes":"Clinical data about adverse events were collected from patient records and laboratory charts for 12 weeks after the initiation of therapy. Delays or reductions in the administration of 5'FU or capecitabine due to adverse events were recorded as primary outcomes, and grade 3,4,5 adverse events were analyzed as secondary outcomes. \"Dose\" here refers to dose modification. Note: the reported parameters for this SNP are really for what the authors refer to as a \"DPYD signature\" that includes any minor alleles for the following SNPs in DPYD: rs3918290 (T), rs67376798 (A), rs75017182(C), rs56038477 (T).","sentence":"Genotype CT is associated with dose of capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3248259","article_title":"Pharmacokinetics and pharmacodynamics following maintenance doses of prasugrel and clopidogrel in Chinese carriers of CYP2C19 variants","article_path":"articles/PMC3248259.md","variant_annotation_id":1450664704,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"prasugrel","pmid":21689142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"CYP2C19 *2/*3 is not associated with area under the plasma concentration-time curve and Cmax when exposed to prasugrel in healthy individuals as compared to CYP2C19 *1/*1. IMs and NMs had similar Pras-AM concentration time profiles, but PMs had lower Pras-AM concentrations than did IMs or NMs (no statistics),difference between PMs and NMs was 13% (90% CI 0%, 25%).; Note: P values were NOT provided in the study. Authors chose to report of confidence interval cut-off of 90%, (not classical cut-off of 95%). One outlier subject was removed from analysis.","sentence":"CYP2C19 *2/*2 + *2/*3 are not associated with metabolism of prasugrel in healthy individuals as compared to CYP2C19 *1/*1.","alleles":"*2/*2 + *2/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170881,"variant_haplotypes":"CYP2C9 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2C9","drugs":"4-hydroxytamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2C9 poor metabolizer and intermediate metabolizer genotypes are associated with concentrations of 4-hydroxytamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5323433","article_title":"Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer","article_path":"articles/PMC5323433.md","variant_annotation_id":1448495665,"variant_haplotypes":"CYP1A1*1, CYP1A1*2A","gene":"CYP1A1","drugs":"exemestane","pmid":27549341,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in exemestane concentrations were seen between the three genotypes.","sentence":"CYP1A1 *1/*2A + *2A/*2A are not associated with concentrations of exemestane in women with Breast Neoplasms as compared to CYP1A1 *1/*1.","alleles":"*1/*2A + *2A/*2A","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC1767618","article_title":"DD ACE gene polymorphism is associated with increased coronary artery endothelial dysfunction: the PREFACE trial","article_path":"articles/PMC1767618.md","variant_annotation_id":982036636,"variant_haplotypes":"rs1799752","gene":"ACE","drugs":"pravastatin","pmid":12695469,"phenotype_category":"Efficacy","significance":"yes","notes":"Described as DD vs II/ID. The DD genotype was associated with significantly deteriorated endothelial function in dilated and normal coronary segments. Pravastatin had a beneficial effect in patients with the DD genotype.","sentence":"Genotype del/del is associated with response to pravastatin in people with non-hypercholesterolaemic patients scheduled for angioplasty as compared to genotypes ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC + ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del.","alleles":"del/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:non-hypercholesterolaemic patients scheduled for angioplasty","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC + ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del","comparison_metabolizer_types":null} +{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161820,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methadone","pmid":21589866,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in concentrations of (R)-, (S)- or (R,S)-methadone between genotypes. No details about which specific variants/alleles were tested for. Variant referred to as C3435T. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with concentrations of methadone in people with Opioid-Related Disorders as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC7388522","article_title":"The association between serotonin-related gene polymorphisms and susceptibility and early sertraline response in patients with panic disorder","article_path":"articles/PMC7388522.md","variant_annotation_id":1452043320,"variant_haplotypes":"rs6313","gene":"HTR2A","drugs":"sertraline","pmid":32723321,"phenotype_category":"Efficacy","significance":"no","notes":"rs6313 was not associated with significant differences in response (PDSS) in patients receiving sertraline.","sentence":"Allele A is not associated with response to sertraline in people with Panic Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Panic Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4969350","article_title":"A candidate gene investigation of methylphenidate response in adult attention-deficit/hyperactivity disorder patients: results from a naturalistic study","article_path":"articles/PMC4969350.md","variant_annotation_id":1447983413,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"methylphenidate","pmid":27091191,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was significant in initial analysis, but not affirmed in meta-analysis or after correction for multiple testing. This study was conducted in adult patients with ADHD, with treatment success measured by questionnaires filled out by treating physicians. This SNP was the only one of 20 found to be significant in any stage of analysis.","sentence":"Allele G is associated with decreased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896063,"variant_haplotypes":"rs1466882","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele C is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038105,"variant_haplotypes":"rs670","gene":"APOA1","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5346037","article_title":"Genome-Wide Analysis of Clopidogrel Active Metabolite Levels Identifies Novel Variants that Influence Antiplatelet Response","article_path":"articles/PMC5346037.md","variant_annotation_id":1448602490,"variant_haplotypes":"rs187941554","gene":"RAD18","drugs":"clopidogrel thiol metabolite H4","pmid":28207573,"phenotype_category":"Metabolism/PK","significance":"no","notes":"In this GWAS, the variant was significantly associated with active metabolite concentration but the association did not remain after adjusting for CYP2C19*2 SNV and correction for multiple testing.","sentence":"Allele A is associated with concentrations of clopidogrel thiol metabolite H4 in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10091789","article_title":"Calcium\u2010channel blockers: Clinical outcome associations with reported pharmacogenetics variants in 32\u2009000 patients","article_path":"articles/PMC10091789.md","variant_annotation_id":1451895360,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"Dihydropyridine derivatives","pmid":36134646,"phenotype_category":"Other","significance":"yes","notes":null,"sentence":"Genotype TT is associated with increased discontinuation of Dihydropyridine derivatives as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5901893","article_title":"Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC5901893.md","variant_annotation_id":1450930485,"variant_haplotypes":"rs7184292","gene":null,"drugs":"atenolol","pmid":29650764,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele was associated with an increased systolic blood pressure response to atenolol.","sentence":"Allele A is associated with increased response to atenolol in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC1873971","article_title":"Pharmacokinetics and effect on caffeine metabolism of the proton pump inhibitors, omeprazole, lansoprazole, and pantoprazole","article_path":"articles/PMC1873971.md","variant_annotation_id":1450807240,"variant_haplotypes":"CYP2C19 poor metabolizers","gene":"CYP2C19","drugs":"lansoprazole, omeprazole, pantoprazole","pmid":9578184,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"12 extensive metabolizers and 2 poor metabolizers. Poor metabolizers receiving omeprazole had a mean AUC 5.4X higher, and a mean t1/2 2.5X longer, as compared to extensive metabolizers. For lansoprazole, these values were 5.9X and 3.5X. For pantoprazole, they were 6.5X and 5X.","sentence":"CYP2C19 poor metabolizer is associated with decreased metabolism of lansoprazole, omeprazole or pantoprazole in healthy individuals as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC6086578","article_title":"PHARMACOGENETIC EFFECTS OF NALTREXONE IN INDIVIDUALS OF EAST ASIAN DESCENT: HUMAN LABORATORY FINDINGS FROM A RANDOMIZED TRIAL","article_path":"articles/PMC6086578.md","variant_annotation_id":1450928686,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":29265379,"phenotype_category":"Other","significance":"yes","notes":"Subjects carrying the G allele consumed significantly fewer drinks in an alcohol self-administration session than subjects with the AA genotype.","sentence":"Genotypes AG + GG are associated with decreased dose of ethanol as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5904201","article_title":"Influence of APOA5 Locus on the Treatment Efficacy of Three Statins: Evidence From a Randomized Pilot Study in Chinese Subjects","article_path":"articles/PMC5904201.md","variant_annotation_id":1449311028,"variant_haplotypes":"rs662799","gene":"APOA5","drugs":"rosuvastatin","pmid":29695967,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects were randomized to receive one of three dose-adjusted statins (N = 65 rosuvastatin, N= 65 atorvastatin, N= 65 simvastatin) and cholesterol (HDL, LDL), triglycerides and free-fatty acids (FFA) were compared between groups before and after statin treatment. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AA is associated with increased response to rosuvastatin in people with Dyslipidaemia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Dyslipidaemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2722908","article_title":"Estimation of the Warfarin Dose with Clinical and Pharmacogenetic Data","article_path":"articles/PMC2722908.md","variant_annotation_id":637880249,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":19228618,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4615595","article_title":"Association of Common C-Reactive Protein (CRP) Gene Polymorphisms With Baseline Plasma CRP Levels and Fenofibrate Response","article_path":"articles/PMC4615595.md","variant_annotation_id":982044407,"variant_haplotypes":"rs3091244","gene":"CRP","drugs":"fenofibrate","pmid":18285551,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the GG, GA and GT genotypes had a greater reduction in C-reactive protein (CRP) levels between baseline and 3 weeks of treatment, as compared to those with the AA and AT genotypes. In strong linkage disequilibrium with rs1205 and rs1417938 (r2 = 0.4 - 0.9, p < 0.001) and rs3093059 (r2 = 0.935, p < 0.001).","sentence":"Genotypes AG + GG are associated with increased response to fenofibrate in people with Metabolic Syndrome as compared to genotypes AA + AT.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metabolic Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AT","comparison_metabolizer_types":null} +{"pmcid":"PMC11584383","article_title":"Plasma concentrations of venetoclax and Pharmacogenetics correlated with drug efficacy in treatment naive leukemia patients: a retrospective study","article_path":"articles/PMC11584383.md","variant_annotation_id":1452714340,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"venetoclax","pmid":39578425,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"The GG genotypes of CYP3A5 rs776746 revealed higher C0/D and C6/D than the AA\u2009+\u2009AG genotype in patients treated with VA regimen (Fig. 3A, B), with statistically significant differences (p\u2009=\u20090.019 and p\u2009=\u20090.032).\" However this was not significantly associated with response even though concentration was itself associated with response.","sentence":"Genotype CC is associated with increased dose-adjusted trough concentrations of venetoclax in people with Leukemia, Myeloid, Acute as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002399,"variant_haplotypes":"rs3772809","gene":"UMPS","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"no","notes":"pfSNP identified 2800 SNPS associated with key-words: 5-FU, capecitabine and oxilaplatin and colorectal cancer. Various criteria were used to determine 1536 SNPs to genotype. These SNPs were genotyped in a discovery cohort (N=62) and tested in a validation cohort (N=27). Both cohorts consisted of patients with colorectal cancer metastasis in liver. 36 SNPs were initially significantly associated with drug response but only 3 remained significant in the validation cohort (before Bonferroni correction): rs2291078 A, rs3772809 G, rs3772810 G. All three SNPs were in perfect LD, and were initially associated with the non-responder phenotype, but the association did not remain significant after Bonferroni correction.","sentence":"Allele G is associated with decreased response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6462825","article_title":"Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort","article_path":"articles/PMC6462825.md","variant_annotation_id":1449164047,"variant_haplotypes":"CYP2C9 normal metabolizers","gene":"CYP2C9","drugs":"warfarin","pmid":29298995,"phenotype_category":"Dosage","significance":"yes","notes":"Mean dose (in mg) of warfarin according to metabolizer phenotype was: EM>IM>PM. Metabolizer phenotype was based on presence of CYP2C9*2 and *3. Warfarin dose requirement was defined as the reported daily dose at 3 months following treatment initiation.","sentence":"CYP2C9 normal metabolizer is associated with increased dose of warfarin as compared to CYP2C9 intermediate metabolizer and poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer and poor metabolizer"} +{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715552,"variant_haplotypes":"rs4587017","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Dosage","significance":"no","notes":"There was no significant difference in 24 hour fentanyl use between the genotype groups.","sentence":"Allele G is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4366347","article_title":"Genetic Variation of the Mu Opioid Receptor (OPRM1) and Dopamine D2 Receptor (DRD2) is Related to Smoking Differences in Patients with Schizophrenia but not Bipolar Disorder","article_path":"articles/PMC4366347.md","variant_annotation_id":1450826727,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"nicotine","pmid":28548579,"phenotype_category":"Other","significance":"yes","notes":"Subgroup analysis of schizophrenia patients only found that those carrying the G allele smoked more cigarettes per day than those with the AA genotype.","sentence":"Genotypes AG + GG are associated with increased exposure to nicotine in people with Schizophrenia as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3055694","article_title":"Genome-Wide Pharmacogenomic Study of Neurocognition As an Indicator of Antipsychotic Treatment Response in Schizophrenia","article_path":"articles/PMC3055694.md","variant_annotation_id":981502120,"variant_haplotypes":"rs11677416","gene":"IL1A","drugs":"olanzapine","pmid":21107309,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"Adjacent SNPs also showed evidence for association. Associated allele is reported as the minor allele being associated with greater response. dbSNP shows C to be the minor allele in all populations reported upon. GWAS p = 6.6 x 10 (-7) for 492K SNPs, so Bonferroni-corrected p is 0.32 .","sentence":"Allele C is associated with increased response to olanzapine in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4702321","article_title":"Effect of ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation: patient-reported outcomes in the STRIVE randomized, controlled trial","article_path":"articles/PMC4702321.md","variant_annotation_id":1449192481,"variant_haplotypes":"rs75527207","gene":"CFTR","drugs":"ivacaftor","pmid":26135562,"phenotype_category":"Efficacy","significance":"yes","notes":"G551D allele. Analysis of CFQ-R scores from participants in the STRIVE trial. Scores for eating problems, health perceptions, physical functioning, respiratory symptoms, social functioning, treatment burden and vitality showed significant improvements following ivacaftor treatment.","sentence":"Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815079,"variant_haplotypes":"rs785423","gene":"TJP1","drugs":"risperidone","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of A alleles present in a patient was negatively associated with PGI score. Please note that this variant is in high linkage disequilibrium with rs711355 and rs813676.","sentence":"Allele A is associated with increased response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491203,"variant_haplotypes":"rs2270927","gene":"SV2C","drugs":"olanzapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype CC is not associated with response to olanzapine in people with Schizophrenia as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4025175","article_title":"The influence of CYP3A, PPARA, and POR genetic variants on the pharmacokinetics of tacrolimus and cyclosporine in renal transplant recipients","article_path":"articles/PMC4025175.md","variant_annotation_id":1184470313,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":24658827,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"A single steady-state concentration of tacrolimus was collected for each patient 2-7 wks post-transplant and compared to dose of tacrolimus administered to patients at Oslo University Hospital. Reported concentrations are \"steady-state dose-adjusted concentration\" of tacrolimus. Steady-state is defined as at least 3 days after last dose adjustment for Tac and 4 days for cyclosporine.","sentence":"Genotype CC is associated with decreased metabolism of tacrolimus in people with Kidney Transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":699639185,"variant_haplotypes":"rs2284220","gene":"CRHR2","drugs":"salbutamol","pmid":18408560,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele G is associated with decreased response to salbutamol in people with Asthma as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3632552","article_title":"The KCNH2 Genetic Polymorphism (1956, C>T) Is a Novel Biomarker That Is Associated with CCB and \u03b1,\u03b2-ADR Blocker Response in EH Patients in China","article_path":"articles/PMC3632552.md","variant_annotation_id":982009313,"variant_haplotypes":"rs1137617","gene":"KCNH2","drugs":"candesartan, imidapril, irbesartan","pmid":23613831,"phenotype_category":"Efficacy","significance":"not stated","notes":null,"sentence":"Genotype GG is not associated with response to candesartan, imidapril or irbesartan in people with Essential hypertension as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3734060","article_title":"Association between Genetic Polymorphisms in Cav2.3 (R-type) Ca2+ Channels and Fentanyl Sensitivity in Patients Undergoing Painful Cosmetic Surgery","article_path":"articles/PMC3734060.md","variant_annotation_id":1450820493,"variant_haplotypes":"rs3845446","gene":"CACNA1E","drugs":"fentanyl","pmid":23940630,"phenotype_category":"Dosage","significance":"yes","notes":"Subjects carrying the C allele required significantly less intrapoperative and perioperative fentanyl than those not carrying the C allele. However, there was no significant difference in analgesic response to fentanyl between the genotype groups. Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes CC + CT are associated with decreased dose of fentanyl in people with Pain, Postoperative as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3727245","article_title":"CYP2C8*3 predicts benefit/risk profile in breast cancer patients receiving neoadjuvant paclitaxel","article_path":"articles/PMC3727245.md","variant_annotation_id":827922851,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"paclitaxel","pmid":22527101,"phenotype_category":"Efficacy","significance":"no","notes":"Response = complete clinical response (cCR). Some patients who had HER2 overexpressing tumors received trastuzumab at the same time as the paclitaxel.","sentence":"Genotypes AA + AG are not associated with increased response to paclitaxel in women with Breast Neoplasms as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6714829","article_title":"Associations of the SLCO1B1 Polymorphisms With Hepatic Function, Baseline Lipid Levels, and Lipid-lowering Response to Simvastatin in Patients With Hyperlipidemia","article_path":"articles/PMC6714829.md","variant_annotation_id":1451227020,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"simvastatin","pmid":30336686,"phenotype_category":"Efficacy","significance":"no","notes":"Patients carrying 388G allele alone is not significantly associated with greater TC and LDL-C reduction in response to simvastatin after 4 weeks of treatment. no significant associations were found between the 521T>C and 388A>G polymorphisms and the lipid-lowering effects of simvastatin treatment after 8 weeks.","sentence":"Genotypes AG + GG are not associated with increased response to simvastatin in people with Hypercholesterolemia as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC2751283","article_title":"CYP2D6 Genotyping as an alternative to phenotyping for determination of metabolic status in a clinical trial setting","article_path":"articles/PMC2751283.md","variant_annotation_id":1183629554,"variant_haplotypes":"CYP2D6*3, CYP2D6*5","gene":"CYP2D6","drugs":"debrisoquine, dextromethorphan","pmid":11741249,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Out of 558 subjects previously phenotyped for clinical studies and genotyped for this study, 46 PM were found. 3 of these 46 were *3/*5.","sentence":"CYP2D6 *3/*5 is associated with decreased metabolism of debrisoquine or dextromethorphan.","alleles":"*3/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451727920,"variant_haplotypes":"rs2074900","gene":"CYP4F2","drugs":"ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype AA is associated with decreased clearance of ticagrelor in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5795999","article_title":"Relationship between Lipid Phenotypes, Overweight, Lipid Lowering Drug Response and KIF6 and HMG-CoA Genotypes in a Subset of the Brisighella Heart Study Population","article_path":"articles/PMC5795999.md","variant_annotation_id":1452362343,"variant_haplotypes":"rs20455","gene":"KIF6","drugs":"hmg coa reductase inhibitors","pmid":29295555,"phenotype_category":"Efficacy","significance":"no","notes":"With regard to lipid-lowering therapy with statins, the authors did not find any association between HMG-CoA or KIF6 genotypes and achievement of <130 mg/dL LDL-C level.","sentence":"Genotypes AG + GG are not associated with response to hmg coa reductase inhibitors as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3984158","article_title":"Verification of Pharmacogenetics-Based Warfarin Dosing Algorithms in Han-Chinese Patients Undertaking Mechanic Heart Valve Replacement","article_path":"articles/PMC3984158.md","variant_annotation_id":1184169096,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":24728385,"phenotype_category":"Dosage","significance":"yes","notes":"The goal of this study was to compare the accuracy of 8 different warfarin dosing algorithms, including the IWPC, and 6 Han Chinese PGx warfarin dosing algorithms, in Han Chinese patients taking warfarin scheduled to undergo mechanic heart valve replacement surgery. The authors concluded that the mean absolute error (MAE) of all algorithms was less than 0.6mg/day in initial and stable doses, and the percentage of patients whose actual doses were within 20% of their predicted dose was 45% for all algorithms. Predictive power of algorithms was highest for patients in the ideal-dose range and lowest for patients in the low and high dose range.; The most accurate predictions came from three Han-Chinese PGx warfarin dosing algorithms (Du et al. 2010, Huang et al. 2009, Miao et al. 2007).","sentence":"Genotype AA is associated with increased dose of warfarin in people with Heart Valve Diseases as compared to genotype AC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart Valve Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC","comparison_metabolizer_types":null} +{"pmcid":"PMC8426351","article_title":"Influence of FMO3 and CYP3A4 Polymorphisms on the Pharmacokinetics of Teneligliptin in Humans","article_path":"articles/PMC8426351.md","variant_annotation_id":1451503700,"variant_haplotypes":"rs909530","gene":"FMO3","drugs":"teneligliptin","pmid":34512362,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented to plus chromosomal strand. Significant for clearance, Cmax, and AUC.","sentence":"Genotypes CT + TT is associated with decreased clearance of teneligliptin in men as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4470685","article_title":"Genome-Wide Association Study Identifies Novel Pharmacogenomic Loci For Therapeutic Response to Montelukast in Asthma","article_path":"articles/PMC4470685.md","variant_annotation_id":1444929615,"variant_haplotypes":"rs7794356","gene":"GALNT17","drugs":"montelukast","pmid":26083242,"phenotype_category":"Efficacy","significance":"no","notes":"This allele showed a trend toward association but not at the genome wide significance level. Study Cohort: Discovery cohort (N=133): American Lung Association Asthma Clinical Research Center (ALA-ACRC)-supported trials, the Leukotriene Modifier Or Corticosteroid or Corticosteroid-Salmeterol Trial (LOCCS) and Effectiveness of Low Dose Theophylline as Add On Therapy for the Treatment of Asthma (LODO) trials. Replication cohort (N=184): Childhood Asthma Research and Education (CARE) Network- Characterizing the Response to a LT Receptor Antagonist and an Inhaled Corticosteroid and Pediatric Asthma Controller Trial (CLIC and PACT).","sentence":"Allele A is associated with increased response to montelukast in people with Asthma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6071997","article_title":"Germline single nucleotide polymorphisms in ERBB3 and BARD1 genes result in a worse relapse free survival response for HER2-positive breast cancer patients treated with adjuvant based docetaxel, carboplatin and trastuzumab (TCH)","article_path":"articles/PMC6071997.md","variant_annotation_id":1449713612,"variant_haplotypes":"rs2229046","gene":"ERBB3","drugs":"carboplatin, docetaxel, trastuzumab","pmid":30071039,"phenotype_category":"Efficacy","significance":"yes","notes":"When compared to women who received different treatment regimens. Response was defined as likelihood of achieving relapse-free survival.","sentence":"Allele C is associated with decreased response to carboplatin, docetaxel and trastuzumab in women with Breast Neoplasms.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5520553","article_title":"Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma","article_path":"articles/PMC5520553.md","variant_annotation_id":1448820506,"variant_haplotypes":"rs10052999","gene":"C6","drugs":"tacrolimus","pmid":28685716,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"When considering DONOR genotype - those with the CC or TT genotype had decreased concentration/dose ratios as compared to those with the CT genotype at weeks 2-4 of treatment. No significant difference was seen at week 1. In multiple linear regression analysis, donor rs10052999 genotype was significantly associated with concentration/dose ratio at week 4 (p=0.001) of treatment. Patients with hepatocellular carcinoma.","sentence":"Genotypes CC + TT are associated with decreased dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotype CT.","alleles":"CC + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981741019,"variant_haplotypes":"rs292449","gene":"NEDD4L","drugs":"hydrochlorothiazide","pmid":23353631,"phenotype_category":"Efficacy","significance":"no","notes":"Minor allele in the Black patients is opposite to minor allele in Whites.","sentence":"Allele C is not associated with response to hydrochlorothiazide in people with Hypertension as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3066089","article_title":"Pharmacodynamics of PEG-IFN alpha-2a and HCV response as a function of IL28B polymorphism in HIV/HCV co-infected patients","article_path":"articles/PMC3066089.md","variant_annotation_id":981483535,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, ribavirin","pmid":21157362,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients were co-infected with HIV. p listed is for RVR.","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4752391","article_title":"PHARMACOGENOMIC GENOME-WIDE META-ANALYSIS OF BLOOD PRESSURE RESPONSE TO BETA-BLOCKERS IN HYPERTENSIVE AFRICAN AMERICANS","article_path":"articles/PMC4752391.md","variant_annotation_id":1447676797,"variant_haplotypes":"rs11313667","gene":"LRRC15","drugs":"atenolol, hydrochlorothiazide, metoprolol","pmid":26729753,"phenotype_category":"Efficacy","significance":"yes","notes":"Study in African Americans","sentence":"Allele del is associated with increased response to atenolol, hydrochlorothiazide or metoprolol in people with Hypertension as compared to allele C.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928162,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to risperidone in people with Schizophrenia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC7351433","article_title":"Polymorphisms within methotrexate pathway genes: Relationship between plasma methotrexate levels, toxicity experienced and outcome in pediatric acute lymphoblastic leukemia","article_path":"articles/PMC7351433.md","variant_annotation_id":1451553370,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methotrexate","pmid":32695297,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. Patients with the AA genotype did not have significantly different methotrexate plasma levels compared to those with the GG genotype.","sentence":"Genotype AG is associated with increased concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5189722","article_title":"Effect of the Polymorphism of Folylpolyglutamate Synthetase on Treatment of High-Dose Methotrexate in Pediatric Patients with Acute Lymphocytic Leukemia","article_path":"articles/PMC5189722.md","variant_annotation_id":1451547391,"variant_haplotypes":"rs1544105","gene":"FPGS","drugs":"methotrexate","pmid":27987364,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the TT genotype had an increased survival time compared to the other genotypes. Please note that alleles have been complemented to the positive strand.","sentence":"Genotype TT is associated with increased response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3093079","article_title":"Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients","article_path":"articles/PMC3093079.md","variant_annotation_id":1444710925,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"4-hydroxytamoxifen, endoxifen, N-desmethyltamoxifen, tamoxifen","pmid":21480951,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Patients (pre- (83%) and postmenopausal (17%)) with ER and/or PR positive breast tumors, which received 20 mg tamoxifen daily. Patients taking CYP2D6 inhibitors were excluded. DNA extracted from blood.","sentence":"CYP2C19 *2 + *3 + *17 is not associated with concentrations of 4-hydroxytamoxifen, endoxifen, n-desmethyltamoxifen and tamoxifen in women with Breast Neoplasms as compared to CYP2C19 *1.","alleles":"*2 + *3 + *17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3476140","article_title":"Association study between clinical response to rizatriptan and some candidate genes","article_path":"articles/PMC3476140.md","variant_annotation_id":1452551152,"variant_haplotypes":"rs6296","gene":"HTR1B","drugs":"rizatriptan","pmid":17563839,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders to rizatriptan. Variant referred to in the paper as 5-HT1D-beta and mapped to rs6296 by PharmGKB.","sentence":"Allele G is not associated with response to rizatriptan in people with Migraine without Aura as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566652,"variant_haplotypes":"rs931635","gene":"ADH1A","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this snp is NOT significant after Bonferroni correction (<0.00049). Also, the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele A is associated with metabolism of ethanol.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6400024","article_title":"Effect of Multidrug-Resistant 1 (MDR1) and CYP3A4*1B Polymorphisms on Cyclosporine-Based Immunosuppressive Therapy in Renal Transplant Patients","article_path":"articles/PMC6400024.md","variant_annotation_id":1451436960,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"cyclosporine","pmid":30799432,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Patients with the *1/*1 genotype had higher average blood concentrations of cyclosporine A than patients with the *1/*1B genotype. However, this was not a significant association. rs number is given but not which allele corresponded to *1B, mapping *1B as C and *1 as T. PharmVAR now considers *1B as the core allele CYP3A4*1.001","sentence":"Allele T is associated with increased concentrations of cyclosporine in people with Kidney Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680150,"variant_haplotypes":"rs74973995","gene":null,"drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"yes","notes":"The allele associated with increased response and low frequency is not explicitly stated. Response is increased for carriers of the rare, minor allele. GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation.","sentence":"Genotype AG is associated with increased response to salbutamol in children with Asthma as compared to genotype AA.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6049926","article_title":"No association between IFNL3 (IL28B) genotype and response to peginterferon alfa-2a in HBeAg-positive or -negative chronic hepatitis B","article_path":"articles/PMC6049926.md","variant_annotation_id":1449713195,"variant_haplotypes":"rs8099917","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a","pmid":30016335,"phenotype_category":"Efficacy","significance":"no","notes":"The authors found no association between IFNL3 genotype and peginterferon 2a response in either HBeAg-positive or HBeAg-negative chronic hepatitis B patients, in both Asian and White patients.","sentence":"Genotype TT is not associated with response to peginterferon alfa-2a in people with Hepatitis B, Chronic as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis B, Chronic","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC3006662","article_title":"Diversity of Opioid Requirements for Postoperative Pain Control Following Oral Surgery\u2014Is It Affected by Polymorphism of the \u03bc-Opioid Receptor?","article_path":"articles/PMC3006662.md","variant_annotation_id":1449713783,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"fentanyl","pmid":21174568,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"Patients with the GG genotype required almost twice as much fentanyl in the first 24 hours following surgery than patients with the AA genotype.","sentence":"Genotype GG is associated with increased dose of fentanyl in people with Pain, Postoperative as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3574284","article_title":"Nonspecific sarcolemmal cation channels are critical for the pathogenesis of malignant hyperthermia","article_path":"articles/PMC3574284.md","variant_annotation_id":1444698070,"variant_haplotypes":"rs118192161","gene":"RYR1","drugs":"halothane","pmid":23159934,"phenotype_category":"Other","significance":"yes","notes":"Wild-type (WT) or mice with a knock in of the malignant hyperthermia causative variant (Arg163Cys; c.487C>T) were exposed to 1.5% halothane. Mice with the Arg163Cys variant had much greater elevations in calcium and sodium in \"vastus lateralis\" muscle when exposed to halothane in vivo as compared to the WT mice.","sentence":"Allele T is associated with increased response to halothane as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2743299","article_title":"GENE AND GENE BY SEX ASSOCIATIONS WITH INITIAL SENSITIVITY TO NICOTINE IN NONSMOKERS","article_path":"articles/PMC2743299.md","variant_annotation_id":1450812282,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"nicotine","pmid":18690117,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and nicotine reward, perception, mood or reinforcement or physiological responses to nicotine.","sentence":"Allele G is not associated with response to nicotine in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6927671","article_title":"Common polymorphisms of CYP2B6 influence stereoselective bupropion disposition","article_path":"articles/PMC6927671.md","variant_annotation_id":1449564017,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"bupropion","pmid":29756345,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Carriers of CYP2B6*6/*6 had lower hydroxylation of both bupropion enantiomers, assessed by plasma hydroxybupropion/bupropion AUC ratios and urine hydroxybupropion formation clearances. Carriers of CYP2B6*1/*6 did not differ statistically as compared to *1/*1.","sentence":"CYP2B6 *6/*6 is associated with decreased metabolism of bupropion in healthy individuals as compared to CYP2B6 *1/*1.","alleles":"*6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC11269678","article_title":"HLA-DQA1*05 correlates with increased risk of anti-drug antibody development and reduced response to infliximab in Chinese patients with Crohn\u2019s disease","article_path":"articles/PMC11269678.md","variant_annotation_id":1452542840,"variant_haplotypes":"HLA-DQA1*05","gene":"HLA-DQA1","drugs":"infliximab","pmid":39055374,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Furthermore, HLA-DQA1*05 G carriage was significantly associated with an elevated risk of loss response to IFX treatment (adjusted HR\u2009=\u20092.55, 95% CI 1.78\u20133.68, P\u2009<\u20090.001; Figure 3B and Supplementary Table 2).\" Authors describe locus as HLADQ A1*05A>G (rs2097432)","sentence":"HLA-DQA1 *05 is associated with decreased response to infliximab in people with Crohn Disease.","alleles":"*05","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Crohn Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4525256","article_title":"Leveraging an Electronic Health Record-Linked Biorepository to Generate a Metformin Pharmacogenomics Hypothesis","article_path":"articles/PMC4525256.md","variant_annotation_id":1446903431,"variant_haplotypes":"rs7541245","gene":"FMO5","drugs":"metformin","pmid":26306225,"phenotype_category":"Efficacy","significance":"yes","notes":"EHR-linked and EHR-based phenotyping methods were used to study common variants within FMO5. Efficacy was assessed by A1c levels extracted from EHR records.","sentence":"Allele A is associated with decreased response to metformin in people with Diabetes Mellitus as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4867099","article_title":"Pharmacogenetics of unboosted atazanavir in HIV-infected individuals in resource-limited settings: a sub-study of the AIDS Clinical Trials Group (ACTG) PEARLS study (NWCS 342)","article_path":"articles/PMC4867099.md","variant_annotation_id":1447947668,"variant_haplotypes":"rs2472677","gene":"NR1I2","drugs":"atazanavir","pmid":26892777,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Looked at CL/F, concentration at 24 hours, and ratios of metabolites M1 and M2 to atazanavir. Only concentration 24 hours post-dose was significantly lower in subjects with the CT genotype as compared to the CC or TT genotypes.","sentence":"Genotype CT (assigned as deficiency phenotype) is associated with decreased concentrations of atazanavir in people with HIV Infections as compared to genotypes CC + TT.","alleles":"CT","specialty_population":null,"metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501851,"variant_haplotypes":"rs7643645","gene":"NR1I2","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was significant in the whole cohort. As measured by a higher carbamazepine-10-11 epoxide: carbamazepine ratio.","sentence":"Allele G is associated with increased metabolism of carbamazepine in people with Epilepsy as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5899062","article_title":"TSPYL Family Regulates CYP17A1 and CYP3A4 Expression: Potential Mechanism Contributing to Abiraterone Response in Metastatic Castration\u2010Resistant Prostate Cancer","article_path":"articles/PMC5899062.md","variant_annotation_id":1449576962,"variant_haplotypes":"rs3828743","gene":"TSPYL1","drugs":"abiraterone, prednisolone","pmid":29027195,"phenotype_category":"Efficacy","significance":"yes","notes":"in a prospective clinical trial of 87 metastatic castration-resistant prostate cancer patients treated with abiraterone acetate/prednisone. The variant allele (A) was more frequently presented in nonresponders (P=0.013), with an odds ratio of 2.47 (1.23, 4.96). This variant abolishes TSPYL1's ability to suppress CYP3A4 expression, resulting in reduced abiraterone concentrations and increased cell proliferation in vitro.","sentence":"Allele A is associated with decreased response to abiraterone and prednisolone in people with Prostatic Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3776990","article_title":"S-1 plus irinotecan and oxaliplatin for the first-line treatment of patients with metastatic colorectal cancer: a prospective phase II study and pharmacogenetic analysis","article_path":"articles/PMC3776990.md","variant_annotation_id":1184510952,"variant_haplotypes":"UGT1A7*3","gene":"UGT1A7","drugs":"irinotecan, oxaliplatin, tegafur / gimeracil / oteracil","pmid":23963147,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the objective response rate was seen between those with the *3 allele (82% responders) and those without one (63%).","sentence":"UGT1A7 *3 is not associated with response to irinotecan, oxaliplatin and s 1 (combination) in people with Colorectal Neoplasms.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10495004","article_title":"Population pharmacokinetics of voriconazole and the role of CYP2C19 genotype on treatment optimization in pediatric patients","article_path":"articles/PMC10495004.md","variant_annotation_id":1452237981,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"voriconazole","pmid":37695751,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The VRC trough concentrations of NMs were lower than in IMs (P = 0.001) and PMs (P = 0.001). In addition, 43.4%, 58.7% and 60.9% of VRC trough concentrations were within the target range in NMs, IMs and PMs, respectively. Furthermore, 53.0%, 34.6% and 26.1% of VRC trough concentrations were subtherapeutic in NMs, IMs and PMs, respectively.\" \"The VRC trough concentrations of NMs were lower than in IMs (P = 0.001) and PMs (P = 0.001). In addition, 43.4%, 58.7% and 60.9% of VRC trough concentrations were within the target range in NMs, IMs and PMs, respectively. Furthermore, 53.0%, 34.6% and 26.1% of VRC trough concentrations were subtherapeutic in NMs, IMs and PMs, respectively.\"","sentence":"CYP2C19 *1/*2 + *1/*3 + *2/*2 + *2/*3 + *3/*3 (assigned as intermediate metabolizer and poor metabolizer phenotype) is associated with increased dose-adjusted trough concentrations of voriconazole in children with Leukemia as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*3 + *2/*2 + *2/*3 + *3/*3","specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3352974","article_title":"CYP2A6 genetic variation and dexmedetomidine disposition","article_path":"articles/PMC3352974.md","variant_annotation_id":981344990,"variant_haplotypes":"CYP2A6*1, CYP2A6*4, CYP2A6*9","gene":"CYP2A6","drugs":"dexmedetomidine","pmid":22271297,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Comparison was between 33 normal metabolizers (*1/*1), 5 intermediate metabolizers (*1/*9), and 2 slow metabolizers (one *1/*4 and one *9/*9).","sentence":"CYP2A6 *1/*4 + *1/*4 + *9/*9 are not associated with clearance of dexmedetomidine in ICU patients as compared to CYP2A6 *1/*1.","alleles":"*1/*4 + *1/*4 + *9/*9","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in","population_phenotypes_or_diseases":"Other:ICU patients","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5098919","article_title":"Association of Cytochrome P450 Genetic Variants with Clopidogrel Resistance and Outcomes in Acute Ischemic Stroke","article_path":"articles/PMC5098919.md","variant_annotation_id":1447949723,"variant_haplotypes":"rs1934980","gene":"CYP2C8","drugs":"clopidogrel","pmid":26961113,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotypes AA + AG is not associated with resistance to clopidogrel in people with Stroke as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Stroke","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5980466","article_title":"Population pharmacokinetics and pharmacogenomics of apixaban in Japanese adult patients with atrial fibrillation","article_path":"articles/PMC5980466.md","variant_annotation_id":1449188612,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"apixaban","pmid":29457840,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":null,"sentence":"Genotypes GG + GT is associated with increased clearance of apixaban in people with Atrial Fibrillation as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4296935","article_title":"Warfarin Dosage Response Related Pharmacogenetics in Chinese Population","article_path":"articles/PMC4296935.md","variant_annotation_id":1444694693,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":25594941,"phenotype_category":"Dosage","significance":"yes","notes":"158/220 patients had the target INR (1.5\u20132.5). The comparison of weekly warfarin maintenance dose was among patients of different genotypes. The mean maintenance dose per week was significantly lower in the rs1057910 AC genotype (15.31\u00b15.26 mg/w) vs the AA genotype (21.21\u00b16.98 mg/w, p = 0.002 ANOVA). rs9923231 and rs1057910 had significant effects on maintenance dose (rs9923231: coefficient was 1.398, p < 0.001; rs1057910: coefficient was-0.994, p < 0.001) and together explained apx. 32.0% of warfarin maintenance dose variability.","sentence":"Genotype AA is associated with increased dose of warfarin in people with heart valve replacement as compared to genotype AC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672968,"variant_haplotypes":"rs778019189","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is associated with decreased metabolism of nicotine as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3753327","article_title":"Warfarin Anticoagulant Therapy: A Southern Italy Pharmacogenetics-Based Dosing Model","article_path":"articles/PMC3753327.md","variant_annotation_id":1183697679,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":23990957,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the *2 or *3 alleles showed significantly lower doses (17% or 32%, respectively) of warfarin as compared to patients with the wildtype genotype (*1/*1). When studied together with VKORC1 1639G/A, patients carrying variants in both genes needed between 34.8% and 84% of the dose needed for patients wildtype for both genes.","sentence":"CYP2C9 *2 + *3 are associated with decreased dose of warfarin in people with Cardiovascular Diseases as compared to CYP2C9 *1.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3776990","article_title":"S-1 plus irinotecan and oxaliplatin for the first-line treatment of patients with metastatic colorectal cancer: a prospective phase II study and pharmacogenetic analysis","article_path":"articles/PMC3776990.md","variant_annotation_id":1184510932,"variant_haplotypes":"UGT1A1*6","gene":"UGT1A1","drugs":"irinotecan, oxaliplatin, tegafur / gimeracil / oteracil","pmid":23963147,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the objective response rate was seen between those with the *6 allele (85% responders) and those without one (64%).","sentence":"UGT1A1 *6 is not associated with response to irinotecan, oxaliplatin and s 1 (combination) in people with Colorectal Neoplasms.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183634290,"variant_haplotypes":"rs4376293","gene":null,"drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"Significance was not attained. Observations: 2.50 mm Hg increased reduction of systolic blood pressure per A allele in PEAR + GERA, 0.38 mm Hg decreased reduction of systolic blood pressure per A allele in NORDIL, and 1.77 mm Hg increased reduction of systolic blood pressure per A allele in PEAR + GERA + NORDIL.","sentence":"Allele T is not associated with response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3712827","article_title":"VKORC1 Asp36Tyr geographic distribution and its impact on warfarin dose requirements in Egyptians","article_path":"articles/PMC3712827.md","variant_annotation_id":981862284,"variant_haplotypes":"rs61742245","gene":"VKORC1","drugs":"warfarin","pmid":23571513,"phenotype_category":"Dosage","significance":"yes","notes":"Egyptian carriers of the VKORC1 rs61742245 A allele (Tyr 36) showed higher warfarin dose requirement (57.1 \u00b1 29.4 mg/week) than those with the CC (Asp36Asp) genotype (35.8 \u00b1 16.6 mg/week; p<0.03). \"This SNP was most frequent among Kenyans and Sudanese, with a minor allele frequency (MAF) of 6% followed by Saudi Arabians and Egyptians with a MAF of 3% and 2.5%, respectively. It was not detected in West Africans (Ghana), and a large cohort of African Americans.\"","sentence":"Genotypes AA + AC are associated with increased dose of warfarin as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC2884029","article_title":"The role of organic anion-transporting polypeptides and their common genetic variants in mycophenolic acid pharmacokinetics","article_path":"articles/PMC2884029.md","variant_annotation_id":981477559,"variant_haplotypes":"rs7311358","gene":"SLCO1B3","drugs":"mycophenolate mofetil","pmid":19890249,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was found for the haplotype of 334T>G/699G>A (rs4149117G/rs7311358A). Patients were also treated with sirolimus or tacrolimus (results did not differ between these treatments so were pooled).","sentence":"Allele A is associated with decreased clearance of mycophenolate mofetil in people with Kidney Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC1975838","article_title":"Genetic-based dosing in orthopedic patients beginning warfarin therapy","article_path":"articles/PMC1975838.md","variant_annotation_id":1183699285,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":17387222,"phenotype_category":"Dosage","significance":"yes","notes":"*3 was associated with 38.1 %(95% CI 29.3 -45.7%) reduction in therapeutic dose (defined as the dose that gave an INR in the target therapeutic range after 7 consecutive days) per copy.","sentence":"CYP2C9 *3 is associated with decreased dose of warfarin in people with total knee or hip arthroplasty as compared to CYP2C9 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:total knee or hip arthroplasty","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4301945","article_title":"Sunitinib-induced severe toxicities in a Japanese patient with the ABCG2 421 AA genotype","article_path":"articles/PMC4301945.md","variant_annotation_id":1448431572,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"n-desethyl sunitinib, sunitinib","pmid":25515134,"phenotype_category":"Toxicity, Metabolism/PK","significance":"no","notes":"in a single case study. Authors state \"Therefore, we speculated that the extremely high plasma concentrations of sunitinib and SU12662 caused by the ABCG2 421 AA genotype might have resulted in severe toxicities to the patient.\"","sentence":"Genotype TT is associated with increased concentrations of n-desethyl sunitinib and sunitinib in women with Carcinoma, Renal Cell.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2599947","article_title":"ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence","article_path":"articles/PMC2599947.md","variant_annotation_id":1450811613,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"methadone","pmid":18424454,"phenotype_category":"Dosage","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. Alleles were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone.","sentence":"Allele A is not associated with dose of methadone in people with Heroin Dependence as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3673300","article_title":"Fixed dose capecitabine is feasible: results from a pharmacokinetic and pharmacogenetic study in metastatic breast cancer","article_path":"articles/PMC3673300.md","variant_annotation_id":1183682310,"variant_haplotypes":"rs2290272","gene":"SLC28A1","drugs":"capecitabine","pmid":23588952,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note that these alleles were listed as G and T within the paper. No significant differences in the area under the concentration-time curve from 0 to infinity (AUCinf) were seen between any of the genotypes (CC, AC, AA). Nor were any significant differences seen between these genotypes when considering the capecitabine metabolites 5'-DFCR, 5'-DFUR or 5'FU (5'-fluorouracil).","sentence":"Allele A is not associated with metabolism of capecitabine in people with Breast Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2679896","article_title":"Pharmacokinetics of Efavirenz when Co-administered with Rifampin in TB/HIV Co-infected Patients: Pharmacogenetic Effect of CYP2B6 Variation","article_path":"articles/PMC2679896.md","variant_annotation_id":1448995933,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":18728241,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT is associated with increased concentrations of efavirenz in people with HIV Infections and Tuberculosis as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease, Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC5887212","article_title":"Cholinergic receptor nicotinic alpha 5 subunit polymorphisms are associated with smoking cessation success in women","article_path":"articles/PMC5887212.md","variant_annotation_id":1450928770,"variant_haplotypes":"rs16969968","gene":"CHRNA5","drugs":"bupropion, nicotine, varenicline","pmid":29621993,"phenotype_category":"Efficacy","significance":"yes","notes":"Women with the AA or AG genotypes were more likely to be abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation compared to those with the GG genotype.","sentence":"Genotypes AA + AG are associated with increased response to bupropion, nicotine or varenicline in women with Tobacco Use Disorder as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3246196","article_title":"Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition","article_path":"articles/PMC3246196.md","variant_annotation_id":1184747060,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*14, SLCO1B1*37","gene":"SLCO1B1","drugs":"methotrexate","pmid":22147369,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note *1B was mentioned in the article. SLCO1B1*1B was consolidated into SLCO1B1*37 by PharmVar in 2021.","sentence":"SLCO1B1 *14 is associated with increased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to SLCO1B1 *1 + *37.","alleles":"*14","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *37","comparison_metabolizer_types":null} +{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1450950800,"variant_haplotypes":"rs3918290","gene":"DPYD","drugs":"FOLFIRI, FOLFOX, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate, overall survival or time to progression in any of the treatment groups (no analyses were undertaken for the FOLFOX group) OR all treatment groups considered together. Significance level was set at 0.01.","sentence":"Genotype CT is not associated with response to FOLFIRI, FOLFOX, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3909010","article_title":"Pharmacogenetic-Based Efavirenz Dose Modification: Suggestions for an African Population and the Different CYP2B6 Genotypes","article_path":"articles/PMC3909010.md","variant_annotation_id":1183944307,"variant_haplotypes":"rs3842","gene":"ABCB1","drugs":"efavirenz","pmid":24497997,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Steady-state plasma concentration from HIV infected patients treated with EFV were used to calculate baseline biochemistries, CD4 counts, and viral load. The authors used non-linear mixed effect modeling to created a PK model of efavirenz. Significant covariates predicted to affect PK of efavirenz were included in the final model. rs3842 T>C was considered a significant factor in covariate analysis and included in the final pharmacokinetic model.","sentence":"Allele C is associated with metabolism of efavirenz in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC8533258","article_title":"Exploring the Role of Alcohol Metabolizing Genotypes in a 12-Week Clinical Trial of Naltrexone for Alcohol Use Disorder","article_path":"articles/PMC8533258.md","variant_annotation_id":1451648933,"variant_haplotypes":"rs671","gene":"ALDH2","drugs":"naltrexone","pmid":34680127,"phenotype_category":"Efficacy","significance":"yes","notes":"The G allele is also referred to as the ALDH2*2 allele in the paper. Patients carrying the G allele reported fewer drinking days during naltrexone treatment.","sentence":"Allele G is associated with increased response to naltrexone in men with Alcoholism as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5590735","article_title":"Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin","article_path":"articles/PMC5590735.md","variant_annotation_id":1448994467,"variant_haplotypes":"rs3842","gene":"ABCB1","drugs":"efavirenz","pmid":28886044,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This is stated in the paper, but supporting data is not shown.","sentence":"Allele C is not associated with concentrations of efavirenz in children with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2896826","article_title":"Resequencing of serotonin-related genes and association of tagging SNPs to citalopram response","article_path":"articles/PMC2896826.md","variant_annotation_id":1452040233,"variant_haplotypes":"rs6313","gene":"HTR2A","drugs":"citalopram","pmid":19077664,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to citalopram in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10085626","article_title":"Novel and replicated clinical and genetic risk factors for toxicity from high-dose methotrexate in pediatric acute lymphoblastic leukemia","article_path":"articles/PMC10085626.md","variant_annotation_id":1452008021,"variant_haplotypes":"rs7317112","gene":"ABCC4","drugs":"methotrexate","pmid":36764694,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"The G allele of rs7317112, an intronic variant of ABCC4, was the other SNP with a clear; association with prolonged MTX clearance\"","sentence":"Allele G is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4236071","article_title":"Adiponectin Gene Polymorphism rs2241766 T/G Is Associated with Response to Pioglitazone Treatment in Type 2 Diabetic Patients from Southern China","article_path":"articles/PMC4236071.md","variant_annotation_id":1444666960,"variant_haplotypes":"rs1063537","gene":"ADIPOQ","drugs":"pioglitazone","pmid":25405601,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as \"any decrease greater than (or equal to) 15%\" of glycated hemoglobin (HbA1C%).","sentence":"Genotype CC are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC9890192","article_title":"Associations between CES1 variants and dosing and adverse effects in children taking methylphenidate","article_path":"articles/PMC9890192.md","variant_annotation_id":1452009286,"variant_haplotypes":"rs114119971","gene":"CES1","drugs":"methylphenidate","pmid":36741090,"phenotype_category":"Dosage","significance":"yes","notes":"Authors never explicitly state which allele is associated with lower dose but do show that it is minor allele which is observed in only two individuals. The frequencies in gnomAD for all populations show G as major allele and C as minor allele. \"The individuals with the rs114119971 SNV had a significantly lower weight-based dose (0.42\u2005mg/kg) as compared to those without (0.88\u2005mg/kg; p\u2009<\u20090.001).\"","sentence":"Genotype CG is associated with decreased dose of methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotype GG.","alleles":"CG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10995391","article_title":"Effect of NAT2, GSTM1 and CYP2E1 genetic polymorphisms on plasma concentration of isoniazid and its metabolites in patients with tuberculosis, and the assessment of exposure-response relationships","article_path":"articles/PMC10995391.md","variant_annotation_id":1452443369,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"isoniazid","pmid":38584604,"phenotype_category":"Efficacy","significance":"no","notes":"\"A trend of association between NAT2 phenotypes and; tSCC was detected, with SA having 80% lower odds of tSCC within; 60 days in comparison to IA (OR = 0.2; 95% CI, 0.03\u20131.22); however,; statistical significance was not reached (p = 0.069) (Table 5).\"","sentence":"NAT2 slow acetylator is associated with decreased clinical benefit to isoniazid in people with Tuberculosis as compared to NAT2 intermediate acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate acetylator"} +{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356739,"variant_haplotypes":"rs4073","gene":"CXCL8","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5500390","article_title":"CYP2D6 Genetic Variation and Beta-Blocker Maintenance Dose in Patients with Heart Failure","article_path":"articles/PMC5500390.md","variant_annotation_id":1449717757,"variant_haplotypes":"CYP2D6*4","gene":"CYP2D6","drugs":"carvedilol","pmid":28181117,"phenotype_category":"Dosage","significance":"no","notes":"A trend was observed between the *4 allele and an increased maintenance dose of carvedilol.","sentence":"CYP2D6 *4 is associated with increased dose of carvedilol in people with Heart Failure.","alleles":"*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11140026","article_title":"Genetic determinants of serum bilirubin using inferred native American gene variants in Chilean adolescents","article_path":"articles/PMC11140026.md","variant_annotation_id":1452502020,"variant_haplotypes":"rs887829","gene":"UGT1A1","drugs":"bilirubin","pmid":38826804,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"By considering the deconvoluted genotypes with NAT origin, we found that the variant with the strongest association was also rs887829, upstream of the UGT1A1 gene, beta = 0.35 mg/dL total bilirubin, p = 3.29 \u00d7 10\u221217, with a frequency of 34.2% in the NAT component of GOCS (Table 2; Supplementary Table S5).\" \"The variant rs887829 near UGT1A1 explained 34.98% of the variation in total bilirubin levels, while the rs1910167 variant near SLCO1B1 only explained 4.61%. \"","sentence":"Genotype TT is associated with increased concentrations of bilirubin in children as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4435089","article_title":"A pharmacokinetic comparison of two voriconazole formulations and the effect of CYP2C19 polymorphism on their pharmacokinetic profiles","article_path":"articles/PMC4435089.md","variant_annotation_id":1445297704,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"voriconazole","pmid":25999694,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Area under the concentration-time curve from dosing to last quantifiable concentration (AUClast) and maximum plasma concentration (Cmax) were greatest in CYP2C19 poor metabolizers (PMs; *2/*2 + *2/*3 + *3/*3), followed by intermediate metabolizers (IMs; *1/*2 + *1/*3) and then extensive metabolizers (EMs; *1/*1). The AUClast was 2.35-fold greater in PMs vs EMs, and 1.27-fold greater in IMs vs EMs. The intrasubject coefficient of variation (CV) for Cmax was 44% greater in PMs vs EMs, and 22% greater in IMs vs EMs. The intrasubject CV for AUClast was 71% greater for PMs vs EMs, and 135% greater for IMs vs EMs. However, no statistical analyses were provided for these differences. The authors also note that one individual with the *1/*17 genotype had an AUClast close to that of the EM group, and one with the *2/*17 genotype had an AUClast close to that of the IM group. Two voriconazole formulations were studied in this paper (SYP-1018 and Vfend), and these results apply to both formulations.","sentence":"CYP2C19 *1/*2 + *1/*3 + *2/*2 + *2/*3 + *3/*3 (assigned as intermediate metabolizer and poor metabolizer phenotype) is associated with increased concentrations of voriconazole in healthy individuals as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*3 + *2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340084,"variant_haplotypes":"rs2359612","gene":"VKORC1","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, this variant is associated with 17.3mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"Genotypes AA + AG are associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10914946","article_title":"Genetic Variants Associated With Response to Platinum-Based Chemotherapy in Non-Small Cell Lung Cancer Patients: A Field Synopsis and Meta\u2010Analysis","article_path":"articles/PMC10914946.md","variant_annotation_id":1452403200,"variant_haplotypes":"rs1799793","gene":"ERCC2","drugs":"Platinum compounds","pmid":38450253,"phenotype_category":"Efficacy","significance":"yes","notes":"\" Under the dominant model, ERCC2 rs1799793 was associated with an increased risk of PBC chemoresistance (OR = 1.186, 95% CI = 1.000\u20131.407), although the association was at borderline significance (p = 0.049). Similarly, an increased risk of chemoresistance was observed for under the allele model (OR = 1.311, 95% CI = 1.082\u20131.590, p < 0.01\" Alleles complemented to plus chromosomal strand.","sentence":"Genotypes CT + TT is associated with increased resistance to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811735,"variant_haplotypes":"rs1461773","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. The T allele was associated with increased scores in the dizzy, drunk, high, nausea, talkative and uncomfortable traits as well as increased total score on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele A is associated with increased response to ethanol as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2288721","article_title":"CYP4F2 genetic variant alters required warfarin dose","article_path":"articles/PMC2288721.md","variant_annotation_id":699638607,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":18250228,"phenotype_category":"Dosage","significance":"yes","notes":"4% to 12% increase in the warfarin dose per T allele. This is in Whites presumably of European descent.","sentence":"Genotype CC is associated with decreased dose of warfarin as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC11520374","article_title":"The association of gene polymorphisms of adenosine and dopamine receptors with the response to caffeine citrate treatment in infants with apnea of prematurity: a prospective nested case-control study","article_path":"articles/PMC11520374.md","variant_annotation_id":1452690680,"variant_haplotypes":"rs10920573","gene":"ADORA1","drugs":"caffeine","pmid":39468580,"phenotype_category":"Efficacy","significance":"yes","notes":"\"In the univariate logistic regression analysis, the CC genotype of ADORA1 rs10920573 (TT / TC vs. CC: OR, 2.89; 95% CI, 1.30\u20136.40), TC genotype of ADORA2B rs2015353 (TT / CC vs. TC: OR, 2.56; 95% CI, 1.28\u20135.12), AG genotype of DRD3 rs7625282 (AA / GG vs. AG: OR, 2.15; 95% CI, 1.17\u20133.96), and CT genotype of DRD3 rs6280 (CC / TT vs. CT: OR, 2.36; 95% CI, 1.29\u20134.30) were identified as risk factors for non-response to caffeine citrate in preterm infants. \" \"CC genotype of ADORA1 rs10920573 (aOR, 3.51; 95% CI, 1.34\u20139.25) and CT genotype of DRD3 rs6280 (aOR, 3.19; 95% CI, 1.53\u20136.65) were identified as independent risk factors for non-response to caffeine citrate in preterm infants. \"","sentence":"Genotype CC is associated with decreased clinical benefit to caffeine in infants with Apnea of prematurity as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in infants with","population_phenotypes_or_diseases":"Other:Apnea of prematurity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4526634","article_title":"Association of ABCB1 and FLT3 Polymorphisms with Toxicities and Survival in Asian Patients Receiving Sunitinib for Renal Cell Carcinoma","article_path":"articles/PMC4526634.md","variant_annotation_id":1446706623,"variant_haplotypes":"rs1933437","gene":"FLT3","drugs":"sunitinib","pmid":26244574,"phenotype_category":"Efficacy","significance":"no","notes":"The genotype was not associated with progression free survival, or overall survival either. Clinical benefit was defined as either partial response or stable disease. Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AA is not associated with response to sunitinib in people with Carcinoma, Renal Cell as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451974147,"variant_haplotypes":"rs3785873","gene":"ITGB3","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with increased resistance to clopidogrel in people with Coronary Disease as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356787,"variant_haplotypes":"rs842647","gene":"REL","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3525178","article_title":"Influence of SLCO1B1 and CYP2C8 gene polymorphisms on rosiglitazone pharmacokinetics in healthy volunteers","article_path":"articles/PMC3525178.md","variant_annotation_id":1450935194,"variant_haplotypes":"CYP2C8*1, CYP2C8*3","gene":"CYP2C8","drugs":"rosiglitazone","pmid":19129086,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP2C8*1/*3 genotype (n=7) had significantly lower rosiglitazone area under the plasma concentration\u2013time curve (AUC) and significantly higher rosiglitazone oral clearance, compared with CYP2C8 wild-type homozygotes.","sentence":"CYP2C8 *1/*3 is associated with decreased concentrations of rosiglitazone in healthy individuals as compared to CYP2C8 *1/*1.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC7649675","article_title":"Pharmacogenetics of TNF inhibitor\u00a0response in rheumatoid arthritis utilizing the two-component disease activity score","article_path":"articles/PMC7649675.md","variant_annotation_id":1451293920,"variant_haplotypes":"rs13393173","gene":"CERS6","drugs":"adalimumab, certolizumab pegol, etanercept, infliximab, Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":33124499,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by change in 2C-DAS28. Table 2 shows change was a negative value for this variant suggesting decreased 2C-DAS28 and increased response, it was not attributed to a particular allele at this rs number location so assumed minor allele based on dbSNP frequencies.","sentence":"Allele A is associated with increased response to adalimumab, certolizumab pegol, etanercept, infliximab or Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183698998,"variant_haplotypes":"rs487750","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses). Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449715981,"variant_haplotypes":"rs268214","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6448146","article_title":"Influence of Genetic Variants on Steady-State Etonogestrel Concentrations Among Contraceptive Implant Users","article_path":"articles/PMC6448146.md","variant_annotation_id":1450375846,"variant_haplotypes":"rs537681","gene":"PGR","drugs":"etonogestrel","pmid":30870275,"phenotype_category":"Efficacy, Metabolism/PK","significance":"no","notes":"\"11.7% (31/266) of carriers for rs537681 had serum etonogestrel concentrations that fell below 90 pg/mL\" (the level for suppression of ovulation) in contraceptive implant users which may theoretically put them at risk for contraceptive failure. Corrected P-value cutoff of 5.0E-4 was not met.","sentence":"Genotypes CT + TT is associated with decreased steady-state concentration of etonogestrel in women as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"steady-state concentration of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC2668081","article_title":"Contribution of the activities of CYP3A, CYP2D6, CYP1A2 and other potential covariates to the disposition of methadone in patients undergoing methadone maintenance treatment","article_path":"articles/PMC2668081.md","variant_annotation_id":1451158023,"variant_haplotypes":"CYP1A2 low activity","gene":"CYP1A2","drugs":"methadone","pmid":19133059,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"CYP1A2 phenotype, as assessed by caffeine metabolism did not significantly contribute to variance in methadone trough plasma concentrations.","sentence":"CYP1A2 low activity is not associated with trough concentration of methadone as compared to CYP1A2 high activity.","alleles":null,"specialty_population":null,"metabolizer_types":"low activity","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"high activity"} +{"pmcid":"PMC11052159","article_title":"Association between Genetic Polymorphism of SCN1A, GABRA1 and ABCB1 and Drug Responsiveness in Vietnamese Epileptic Children","article_path":"articles/PMC11052159.md","variant_annotation_id":1452460020,"variant_haplotypes":"rs2298771","gene":"SCN1A","drugs":"antiepileptics","pmid":38674283,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. Specific drugs not specified. \"For rs2298771 G > A (p.Thr1067Ala), this is a variant in the coding region of the SCN1A gene. We found that the heterozygous genotype GA is a risk factor of DRE. The recessive model also showed that carriers of the G allele (GG + GA) were at higher risk of being drug-resistant. There were limited individuals with the GG genotype in both studies groups, therefore no statistical significance was found regarding the homozygous GG genotype among the two groups. \"","sentence":"Genotypes CC + CT is associated with increased resistance to antiepileptics in children with Epilepsy as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC8426351","article_title":"Influence of FMO3 and CYP3A4 Polymorphisms on the Pharmacokinetics of Teneligliptin in Humans","article_path":"articles/PMC8426351.md","variant_annotation_id":1451503760,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"teneligliptin","pmid":34512362,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented to plus chromosomal strand. Significant only for Cmax, not for AUC or CL/F.","sentence":"Genotypes CT + TT is associated with decreased concentrations of teneligliptin in men as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6923423","article_title":"Influence of OATP1B1 and BCRP polymorphisms on the pharmacokinetics and pharmacodynamics of rosuvastatin in elderly and young Korean subjects","article_path":"articles/PMC6923423.md","variant_annotation_id":1451124102,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"rosuvastatin","pmid":31857620,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The exposure to rosuvastatin increased by 44% in young subjects (p\u2009=\u20090.0021) with BCRP intermediate function (IF) and by 35% and 59% (p\u2009>\u20090.05 for both) in elderly subjects with BCRP IF and low function. The ABCG2 421C\u2009>\u2009A polymorphism was identified as a more important determinant than the SLCO1B1 521T\u2009>\u2009C polymorphism in both elderly and young subjects.","sentence":"Genotypes GT + TT are associated with increased concentrations of rosuvastatin as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC7968507","article_title":"ABCB1, CYP2B6, and CYP3A4 Genetic Polymorphisms do not Affect Methadone Maintenance Treatment in HCV-positive Patients","article_path":"articles/PMC7968507.md","variant_annotation_id":1451569107,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"methadone","pmid":33410778,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with metabolism of methadone in men with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11603417","article_title":"Novel genomic variants influencing methotrexate delayed clearance in pediatric patients with acute lymphoblastic leukemia","article_path":"articles/PMC11603417.md","variant_annotation_id":1452722720,"variant_haplotypes":"rs1800956","gene":"ENG","drugs":"methotrexate","pmid":39611166,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"All eight patients with ENG rs1800956 exhibited delayed MTX clearance. \" \"Case (MTX, delayed clearance) was defined as serum MTX, level (\u03bcmol/L) at 24 h \u2265 15 or 48 h \u2265 1.5 or 72 h \u2265 0.15 or 168 h \u2265 0.1, otherwise defined as control.\"","sentence":"Allele G is associated with decreased clearance of methotrexate in children with Acute lymphoblastic leukemia as compared to allele C.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703569,"variant_haplotypes":"rs2282143","gene":"SLC22A1","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype was not significantly with associated with likelihood of achieving a major molecular response (MMR) within 12 months. MMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; MMR was a ratio <= 0.1%.","sentence":"Genotype CC is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC11860030","article_title":"Impact of Genetic Variants on Pregabalin Pharmacokinetics and Safety","article_path":"articles/PMC11860030.md","variant_annotation_id":1452860540,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"pregabalin","pmid":40005966,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\" In this study,; NAT2 SAs showed a 16\u201318% increase in exposure compared to IAs and NAs. The observed; variations in t1/2 and Cl/F appear consistent, as NAT2 SAs exhibited a 25% higher t1/2 as; compared with NAT2 IAs and 58% higher compared to NAT2 NAs. Our findings suggest; that NAT2 could be partially responsible for the minor proportion of pregabalin metabolism.\" Alleles measured (table 5) were *5 rs1801280 (T>C), *6 rs1799930 (G>A) and *7 rs1799931 (G>A).","sentence":"NAT2 slow acetylator is associated with increased exposure to pregabalin in healthy individuals as compared to NAT2 intermediate acetylator and rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate acetylator and rapid acetylator"} +{"pmcid":"PMC8975736","article_title":"Identification of sex-specific genetic associations in response to opioid analgesics in a White, non-Hispanic cohort from Southeast Minnesota","article_path":"articles/PMC8975736.md","variant_annotation_id":1451692704,"variant_haplotypes":"rs35742686","gene":"CYP2D6","drugs":"hydrocodone, oxycodone","pmid":35102242,"phenotype_category":"Efficacy","significance":"yes","notes":"variant is described as C \"protective\" against poor pain control compared to CT.","sentence":"Allele DELT is associated with increased clinical benefit to hydrocodone or oxycodone in people with Pain as compared to allele T.","alleles":"DELT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC9585281","article_title":"Association of ABCC2 polymorphism with clopidogrel response in Chinese patients undergoing percutaneous coronary intervention","article_path":"articles/PMC9585281.md","variant_annotation_id":1451930248,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"clopidogrel","pmid":36278153,"phenotype_category":"Efficacy","significance":"yes","notes":"\"CYP2C19*2 AA carriers presented significantly lower mean PAIR% values (59.60 \u00b1 26.07) than CYP2C19*2 GA carriers (74.84 \u00b1 25.09) (p = 0.015). Our results also indicated that CYP2C19*2 AA carriers presented significantly lower mean PAIR% values (59.60 \u00b1 26.07) than CYP2C19*2 GG carriers (77.63 \u00b1 23.69) (p = 0.003) (Figure 1D).\"","sentence":"Genotype AA is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4788379","article_title":"PTPRD gene associated with blood pressure response to atenolol and resistant hypertension","article_path":"articles/PMC4788379.md","variant_annotation_id":1446902845,"variant_haplotypes":"rs12346562","gene":null,"drugs":"hydrochlorothiazide","pmid":26425837,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele of SNP rs12346562 was associated with better DBP response to atenolol, but with less pronounced response to hydrochlorothiazide. White participants with rs12346562 AA, AC, and CC genotypes had mean DBP responses of -3.8,-3.8, and -5.6 mmHg to atenolol (P=0.0018, b=1.55 mmHg; per A allele).","sentence":"Genotypes AA + AC is associated with decreased response to hydrochlorothiazide in people with Hypertension as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6046471","article_title":"Pharmacokinetics of efavirenz in patients on antituberculosis treatment in high human immunodeficiency virus and tuberculosis burden countries: A systematic review","article_path":"articles/PMC6046471.md","variant_annotation_id":1449275102,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":29624706,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"A systematic review. The authors only state that in the reviewed studies, patients with the slow metabolizer phenotype (associated with the TT genotype) had increased concentrations of efavirenz.","sentence":"Genotype TT is associated with increased concentrations of efavirenz in people with Hepatitis B and HIV Infections as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis B virus infection, Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC3899768","article_title":"SLC28A3 genotype and gemcitabine rate of infusion affect dFdCTP metabolite disposition in patients with solid tumours","article_path":"articles/PMC3899768.md","variant_annotation_id":1184174889,"variant_haplotypes":"rs6946062","gene":"NT5C3A","drugs":"gemcitabine","pmid":24300978,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Gemcitabine, dFdCTP, and dFdU plasma concentrations were measured before (5, 15, 30, 45 min) and after gemcitabine infusion (1, 1.25, 1.5, 2, 6, 24, 48, 72 hrs). Population pharmacokinetic analysis of gemcitabine and metabolites (dFdU, dFdCTP) were performed by non-linear mixed effects modeling. rs6946062 is not associated with metabolism of gemcitabine.","sentence":"Genotype TT is not associated with metabolism of gemcitabine as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114883,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and AUC0-12 of lopinavir or ritonavir in patients treated with lopinavir/ritonavir. Variant referred to in the paper as A388G.","sentence":"Allele G is not associated with exposure to lopinavir or ritonavir in children with HIV Infections as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166057,"variant_haplotypes":"rs4805162","gene":"ZNF565","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele G is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4456129","article_title":"Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity","article_path":"articles/PMC4456129.md","variant_annotation_id":1444695442,"variant_haplotypes":"rs4680","gene":null,"drugs":"methadone","pmid":25556837,"phenotype_category":"Dosage","significance":"no","notes":"Methadone maintenance dose was not associated with genotype of the SNP but it was correlated to the highest dose ever used. Multiple doses versus single dose, body weight, history of cocaine dependence and ethnicity (Asian>Caucasian>African) were independently associated with methadone dose in multiple regression analysis.","sentence":"Allele A is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5600689","article_title":"Impact of Single Nucleotide Polymorphisms on Plasma Concentrations of Efavirenz and Lopinavir/ritonavir in Chinese Children Infected with the Human Immunodeficiency Virus","article_path":"articles/PMC5600689.md","variant_annotation_id":1448821806,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"lopinavir","pmid":28718515,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes AA + AG are not associated with concentrations of lopinavir in children with HIV Infections as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3675749","article_title":"Influences of Organic Cation Transporter Polymorphisms on the Population Pharmacokinetics of Metformin in Healthy Subjects","article_path":"articles/PMC3675749.md","variant_annotation_id":1183682339,"variant_haplotypes":"rs2282143","gene":"SLC22A1","drugs":"metformin","pmid":23417334,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Healthy individuals with the CC genotype had decreased area under the serum concentration-time curve from zero to infinity (AUCinf) of metformin as compared to those with the CT or TT genotype. However, no significant association was seen for peak concentration (Cmax) of metformin.","sentence":"Genotype CC is associated with increased clearance of metformin in healthy individuals as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4526634","article_title":"Association of ABCB1 and FLT3 Polymorphisms with Toxicities and Survival in Asian Patients Receiving Sunitinib for Renal Cell Carcinoma","article_path":"articles/PMC4526634.md","variant_annotation_id":1446735619,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"sunitinib","pmid":26244574,"phenotype_category":"Efficacy","significance":"no","notes":"The genotype was not associated with progression free survival, or overall survival, or clinical benefit. Clinical benefit was defined as either partial response or stable disease. Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Genotype TT is not associated with response to sunitinib in people with Carcinoma, Renal Cell as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1452442340,"variant_haplotypes":"CYP2A6*1, CYP2A6*55","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments. Variant referred to as rs114558780 in the paper.","sentence":"CYP2A6 *55 is associated with decreased metabolism of nicotine as compared to CYP2A6 *1.","alleles":"*55","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446895992,"variant_haplotypes":"rs16855294","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166134,"variant_haplotypes":"rs7858","gene":"NFIB","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995829,"variant_haplotypes":"rs833068","gene":"VEGFA","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874720,"variant_haplotypes":"rs2133251840","gene":"DRD4","drugs":"clozapine","pmid":40048458,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. Table does not state which allele or direction of effect for these SNPs, so assuming minor allele and benefit, PANSS beta is in Table negative. \"four SNPs in two genes were significantly associated with the total PANSS score: rs7787082 and rs10248420 in ABCB1 and rs2133251840 and rs762502 in DRD4 (Table 5). Among these, only one SNP in DRD4 (rs2133251840) resulted in different total PANSS scores at visits 3 and 4 according to its genotype\"","sentence":"Allele del is associated with increased clinical benefit to clozapine in people with Schizophrenia or Psychotic Disorder as compared to allele GA.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"GA","comparison_metabolizer_types":null} +{"pmcid":"PMC3038469","article_title":"Genetic and nongenetic factors associated with warfarin dose requirements in Egyptian patients","article_path":"articles/PMC3038469.md","variant_annotation_id":982034970,"variant_haplotypes":"rs56165452","gene":"CYP2C9","drugs":"warfarin","pmid":21228733,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP defines CYP2C9*4. CYP2C9 *2,*3,*4,*5,*8 were grouped into three groups for testing: *1/*1 vs. *1/*2 + *1/*3 + *1/*4 + *1/*5 + *1/*8 vs *2/*2 + *2/*3 + *3/*3 + *5/*5. People having one or two variant alleles had lower dose requirements than people who were *1/*1.","sentence":"Genotype CT is associated with decreased dose of warfarin as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238675,"variant_haplotypes":"rs3819811","gene":"PLAGL1","drugs":"olanzapine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele A is associated with response to olanzapine in people with Schizophrenia.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003010,"variant_haplotypes":"rs2231137","gene":"ABCG2","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"no","notes":"Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele C is not associated with response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC11435314","article_title":"An Investigational Study on the Role of CYP2D6, CYP3A4 and UGTs Genetic Variation on Fesoterodine Pharmacokinetics in Young Healthy Volunteers","article_path":"articles/PMC11435314.md","variant_annotation_id":1452616360,"variant_haplotypes":"rs2244613","gene":"CES1","drugs":"fesoterodine","pmid":39338398,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"subjects with the CES1 rs2244613 C/A genotype were associated with a lower T1/2 compared to those with the A/A genotype (puv = 0.026) (Table 3). However, this association was not maintained in the multivariate analysis.\"","sentence":"Genotype GT is associated with decreased half-life time of fesoterodine in healthy individuals as compared to genotype TT.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"half-life time of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4151614","article_title":"Warfarin dose requirements in a patient with the CYP2C9*14 allele","article_path":"articles/PMC4151614.md","variant_annotation_id":1184473659,"variant_haplotypes":"CYP2C9*1, CYP2C9*14","gene":"CYP2C9","drugs":"warfarin","pmid":24956244,"phenotype_category":"Dosage","significance":"not stated","notes":"This patient also carries the warfarin insensitive VKORC1 -1639GG and CYP4F2 433Met/Met genotypes.","sentence":"CYP2C9 *1/*14 is associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*14","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5342670","article_title":"IL-3 and CTLA4 gene polymorphisms may influence the tacrolimus dose requirement in Chinese kidney transplant recipients","article_path":"articles/PMC5342670.md","variant_annotation_id":1448613214,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":28112181,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was seen for time 7, 30, and 90 days after transplantation. Exposure to CC was higher than CT, which was higher than TT.","sentence":"Genotype CC is associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC8533258","article_title":"Exploring the Role of Alcohol Metabolizing Genotypes in a 12-Week Clinical Trial of Naltrexone for Alcohol Use Disorder","article_path":"articles/PMC8533258.md","variant_annotation_id":1451648830,"variant_haplotypes":"rs1229984","gene":"ADH1B","drugs":"naltrexone","pmid":34680127,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. The T allele is also referred to as the ADH1B*2 allele in the paper.","sentence":"Allele T is not associated with response to naltrexone in men with Alcoholism as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11608742","article_title":"Effects of genetic variants of organic cation transporters on metformin response in newly diagnosed patients with type 2 diabetes","article_path":"articles/PMC11608742.md","variant_annotation_id":1452724860,"variant_haplotypes":"rs2301759","gene":"CBARP, STK11","drugs":"metformin","pmid":39612420,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Only STK11 (rs2301759) significantly affected metformin response among patients. T/T was the most frequent genotype (85%) in the inadequate-response group (P\u2005=\u2005.021). Other SNPs (rs4621031, rs34399035, rs1800058, and rs11212617) had no significant impact on metformin response. \"","sentence":"Genotype TT is associated with decreased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5875925","article_title":"Pharmacogenetics of Asthma Controller Treatment","article_path":"articles/PMC5875925.md","variant_annotation_id":1183703276,"variant_haplotypes":"rs6962027","gene":"CHRM2","drugs":"fluticasone/salmeterol","pmid":22370858,"phenotype_category":"Efficacy","significance":"yes","notes":"The \"major\" allele is associated with increased response. It is not clear whether that is A or T on the positive chromosomal strand.","sentence":"Allele A is associated with response to fluticasone/salmeterol in people with Asthma as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3597465","article_title":"COMT Val158Met, BDNF Val66Met, and OPRM1 Asn40Asp and Methamphetamine Dependence Treatment Response: Preliminary Investigation","article_path":"articles/PMC3597465.md","variant_annotation_id":1450813963,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"modafinil","pmid":22217949,"phenotype_category":"Efficacy","significance":"yes","notes":"Hispanic subjects with the GG genotype had significantly higher Treatment Effectiveness Scores when treated with modafinil compared to placebo. This significant association was not seen when comparing modafinil treatment against placebo in subject with the AA or AG genotypes.","sentence":"Genotype GG is associated with increased response to modafinil in people with methamphetamine dependence as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Methamphetamine dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550286,"variant_haplotypes":"rs362813","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele C is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC11141156","article_title":"Dose adjustment of paroxetine based on CYP2D6 activity score inferred metabolizer status in Chinese Han patients with depressive or anxiety disorders: a prospective study and cross-ethnic meta-analysis","article_path":"articles/PMC11141156.md","variant_annotation_id":1452484920,"variant_haplotypes":"CYP2D6 ultrarapid metabolizer","gene":"CYP2D6","drugs":"paroxetine","pmid":38776596,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"we found that the paroxetine Css of PMs, IMs, and UMs were 2.50, 1.12, and 0.39 times that of EMs, respectively, with PM and UM effects being statistically significant (multiple linear regression, exponentiated \u03b2 = 2.50, 95% CI: 1.08\u20135.76, P = 0.03; exponentiated \u03b2 = 0.39, 95% CI: 0.15\u20130.97, P = 0.04, respectively).\"","sentence":"CYP2D6 ultrarapid metabolizer is associated with decreased steady-state concentration of paroxetine in people with Depressive Disorder, Major, Anxiety Disorders or Panic Disorder as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"steady-state concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder, Other:Anxiety Disorders, Other:Panic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC9536193","article_title":"Germline Polymorphisms as Biomarkers of Tumor Response in Colorectal Cancer Patients Treated with Anti-EGFR Monoclonal Antibodies: A Systematic Review and Meta-Analysis","article_path":"articles/PMC9536193.md","variant_annotation_id":1449165367,"variant_haplotypes":"rs2227983","gene":"EGFR","drugs":"cetuximab, panitumumab","pmid":27897268,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis with 6 studies. This association was not significant after multiple testing correction. This variant was listed as rs11543848 in the original article. The authors did not provide the exact number of patients but stated that \"the median number of patients per analysis was 110 (range 50 - 740)\". Most definitions of response were variations of the RECIST criteria.","sentence":"Allele A is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10309098","article_title":"Pharmacogenetic interactions of efavirenz or rifampin and isoniazid with levonorgestrel emergency contraception during treatment of HIV or tuberculosis","article_path":"articles/PMC10309098.md","variant_annotation_id":1452472401,"variant_haplotypes":"CYP2B6 intermediate metabolizer","gene":"CYP2B6","drugs":"levonorgestrel","pmid":37306344,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Study investigated the effect on steady-state drugs used to treat HIV or tuberculosis on the pharmacokinetics of single dose levonorgestrel. Analysis carried out in the cohort treated with efavirenz.; Intermediate metabolizers defined as having one of the following genotypes:; 1) rs3745274 GG, rs28399499 TT and rs4803419 TT; 2) rs3745274 GT, rs28399499 TT and rs4803419 CC; 3) rs3745274 GG, rs28399499 CT and rs4803419 CC; 4) rs3745274 GT, rs28399499 TT and rs4803419 CT; 5) rs3745274 GG, rs28399499 CT and rs4803419 CT","sentence":"CYP2B6 intermediate metabolizer is not associated with increased clearance of levonorgestrel in women with HIV Infections as compared to CYP2B6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4010098","article_title":"Clinical Pharmacology of an Atrasentan and Docetaxel Regimen in Men with Hormone-Refractory Prostate Cancer","article_path":"articles/PMC4010098.md","variant_annotation_id":1185235766,"variant_haplotypes":"rs2250242","gene":"ORM2","drugs":"atrasentan","pmid":24619498,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in atrasentan apparent oral clearance was seen between the two genotype groups.","sentence":"Genotype AA is not associated with clearance of atrasentan in men with Prostatic Neoplasms as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038089,"variant_haplotypes":"rs4520","gene":"APOC3","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.","sentence":"Genotypes CT + TT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC8553963","article_title":"Influence of Cytochrome P450 2C19 Genotype on Helicobacter pylori Proton Pump Inhibitor-Amoxicillin-Clarithromycin Eradication Therapy: A Meta-Analysis","article_path":"articles/PMC8553963.md","variant_annotation_id":1451581644,"variant_haplotypes":"CYP2C19 normal metabolizer genotype","gene":"CYP2C19","drugs":"amoxicillin, clarithromycin, esomeprazole","pmid":34721043,"phenotype_category":"Efficacy","significance":"no","notes":"\"In contrast, studies that used rabeprazole and esomeprazole showed no significant differences in the RR of failed eradication among the three genotypes\"","sentence":"CYP2C19 normal metabolizer is not associated with decreased clinical benefit to amoxicillin, clarithromycin and esomeprazole in people with Helicobacter Infections as compared to CYP2C19 poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Efficacy:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"poor metabolizer"} +{"pmcid":"PMC3093079","article_title":"Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients","article_path":"articles/PMC3093079.md","variant_annotation_id":1444710751,"variant_haplotypes":"CYP2D6*1, CYP2D6*5, CYP2D6*10","gene":"CYP2D6","drugs":"endoxifen","pmid":21480951,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients (pre- (83%) and postmenopausal (17%)) with ER and/or PR positive breast tumors, which received 20 mg tamoxifen daily. Patients taking CYP2D6 inhibitors were excluded. DNA extracted from blood and screened for the following: *2 (2850C>T; rs16947), *2A (\u20131584C>G), *3 (2549delA; rs35742686), *4 (1846G>A; rs3892097), *5 (CYP2D6del), *6 (1707delT; rs5030655), *7 (2935A>C; rs5030867), *8 (1758G>T), *9 (2615-2617delAAG; rs5030656), *10 (100C>T; rs1065852), *12 (124G>A; rs5030862), *14 (1758G>A), *17 (1023C>T; rs28371706), *29 (1659G>A; rs61736512), *41 (2988G>A; rs28371725) and *xN (dup). Also gene-dose dependent effect for CYP2D6*5 and *10 genotype vs *1/*1 for metabolic ratio of endoxifen/N-desmethyltamoxifen. [pre-menopausal][post-menopausal] [adjuvant] [DNA source: blood]","sentence":"CYP2D6 *10/*10 + *5/*10 is associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*1 + *1/*10 + *1/*5.","alleles":"*10/*10 + *5/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*10 + *1/*5","comparison_metabolizer_types":null} +{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491207,"variant_haplotypes":"rs6874435","gene":"SV2C","drugs":"olanzapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype AA is not associated with response to olanzapine in people with Schizophrenia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6461793","article_title":"Effects of SLCO1B1 and GATM gene variants on rosuvastatin-induced myopathy are unrelated to high plasma exposure of rosuvastatin and its metabolites","article_path":"articles/PMC6461793.md","variant_annotation_id":1451228555,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"rosuvastatin","pmid":29950617,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The mean Css/D of RST and its metabolites were significantly higher in the subjects carrying the ABCG2 421A than in non-carriers of this; allele. The effects of this allele remained significant after being adjusted by the baseline characteristics and false discovery rate; (FDR) (Padj < 0.01, FDR < 0.05).\"","sentence":"Genotypes GT + TT are associated with increased concentrations of rosuvastatin as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6142943","article_title":"Association of Genetic Variants With Response to Anti\u2013Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration","article_path":"articles/PMC6142943.md","variant_annotation_id":1449567013,"variant_haplotypes":"rs242939","gene":"CRHR1","drugs":"bevacizumab, ranibizumab","pmid":29852030,"phenotype_category":"Efficacy","significance":"no","notes":"The authors performed GWAS in a discovery cohort, and did a replication analysis.","sentence":"Allele C is not associated with response to bevacizumab and ranibizumab in people with as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5373545","article_title":"The risk of clopidogrel resistance is associated with ABCB1 polymorphisms but not promoter methylation in a Chinese Han population","article_path":"articles/PMC5373545.md","variant_annotation_id":1448995092,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"clopidogrel","pmid":28358842,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with genotype GG showed decreased platelet inhibtion compared to genotypes AA+AG. The authors than link increased platelet inhibition to increased resistance to clopidogrel.","sentence":"Genotypes AA + AG is associated with increased resistance to clopidogrel as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4628029","article_title":"CYP3A5 and ABCB1 genotype influence tacrolimus and sirolimus pharmacokinetics in renal transplant recipients","article_path":"articles/PMC4628029.md","variant_annotation_id":1447520846,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"sirolimus, tacrolimus","pmid":26543771,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No associations with tacrolimus or sirolimus pharmacokinetic parameters were seen for this SNP. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with metabolism of sirolimus or tacrolimus in people with Kidney Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144225,"variant_haplotypes":"rs7959663","gene":"MYO1H","drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele C is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449716026,"variant_haplotypes":"rs1982235","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3419350","article_title":"CYP2C19 polymorphism affects single-dose pharmacokinetics of oral pantoprazole in healthy volunteers","article_path":"articles/PMC3419350.md","variant_annotation_id":1447947314,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"pantoprazole","pmid":22418828,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"There were 6 *17/*17 (TT) and 6 *1/*1 (CC). The study was done using pantoprazole. *1/*17 (n = 6) had concentration-time curves similar to *1/*1 subjects (typed only for *2 and *17).","sentence":"CYP2C19 *17 is associated with increased clearance of pantoprazole in healthy individuals as compared to CYP2C19 *1.","alleles":"*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4111883","article_title":"Characterisation of the Clinical Pharmacokinetics of Actinomycin D and the Influence of ABCB1 Pharmacogenetic Variation on Actinomycin D Disposition in Children with Cancer","article_path":"articles/PMC4111883.md","variant_annotation_id":1445296356,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"dactinomycin","pmid":24968986,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in actinomycin D clearance was seen between the genotypes (CC, AC, AA, CT, AT). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with clearance of dactinomycin in children with Neoplasms.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4803610","article_title":"Race-specific influence of CYP4F2 on dose and risk of hemorrhage among warfarin users","article_path":"articles/PMC4803610.md","variant_annotation_id":1447952622,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":26877068,"phenotype_category":"Dosage","significance":"yes","notes":"in European americans, but not African americans.","sentence":"CYP2C9 *2 is associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2901912","article_title":"CYP2C9 Genotype and Pharmacodynamic Responses to Losartan in Patients with Primary and Secondary Kidney Diseases","article_path":"articles/PMC2901912.md","variant_annotation_id":1183490988,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"losartan","pmid":19669737,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with secondary kidney diseases carrying CYP2C9 variant alleles (*2 or *3) showed increases in blood pressure (both systolic and diastolic) as compared to patients with the *1/*1 genotype. A nonsignificant trend towards improved urinary protein excretion was seen in patients with primary kidney diseases with the *1/*1 genotype as compared to patients carrying variant alleles (*2 or *3).","sentence":"CYP2C9 *1/*3 is associated with decreased response to losartan in people with Kidney Diseases as compared to CYP2C9 *1/*1.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930684,"variant_haplotypes":"rs1948","gene":"CHRNB4","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele A is not associated with exposure to nicotine in men as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2630264","article_title":"The largest prospective warfarin-treated cohort supports genetic forecasting","article_path":"articles/PMC2630264.md","variant_annotation_id":1183701285,"variant_haplotypes":"rs3814637","gene":"CYP2C19","drugs":"warfarin","pmid":18574025,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP explained 0.7% (P = 2.2 x 10(-6)) of the variation in warfarin dose. The direction of the allele:dose relationship is not given.","sentence":"Allele C is associated with dose of warfarin.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7302666","article_title":"Genetic variants in NECTIN4 encoding an adhesion molecule are associated with continued opioid use","article_path":"articles/PMC7302666.md","variant_annotation_id":1451356350,"variant_haplotypes":"rs11265549","gene":"NECTIN4","drugs":"methadone","pmid":32555608,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"rs11265549 was found to be in high linkage disequilibrium with rs3892375 and rs12116949 and was selected to be the tag SNP for all three variants.","sentence":"Genotype AA is associated with decreased concentrations of methadone in people with Opioid-Related Disorders as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC8182957","article_title":"Effects of rs958804 and rs7858836 single\u2010nucleotide polymorphisms of the ASTN2 gene on pain\u2010related phenotypes in patients who underwent laparoscopic colectomy and mandibular sagittal split ramus osteotomy","article_path":"articles/PMC8182957.md","variant_annotation_id":1451592467,"variant_haplotypes":"rs958804","gene":"ASTN2","drugs":"fentanyl","pmid":33476460,"phenotype_category":"Dosage","significance":"yes","notes":"This variant was found to be in moderate LD with rs7858836. p<0.025 was considered to be statistically significant.","sentence":"Genotypes CC + CT are associated with decreased dose of fentanyl in people with Pain, Postoperative as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756052,"variant_haplotypes":"rs10875989","gene":"AQP2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC8940650","article_title":"Effect of CYP3A5 and CYP3A4 Genetic Variants on Fentanyl Pharmacokinetics in a Pediatric Population","article_path":"articles/PMC8940650.md","variant_annotation_id":1451678262,"variant_haplotypes":"CYP3A5*1, CYP3A5*3, CYP3A5*6","gene":"CYP3A5","drugs":"fentanyl","pmid":34877660,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP3A5 *1/*3 + *1/*6 + *3/*3 + *3/*6 + *6/*6 (assigned as intermediate metabolizer and poor metabolizer phenotype) are associated with decreased clearance of fentanyl in children as compared to CYP3A5 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*1/*3 + *1/*6 + *3/*3 + *3/*6 + *6/*6","specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC2014539","article_title":"Plasma concentrations of haloperidol are related to CYP2D6 genotype at low, but not high doses of haloperidol in Korean schizophrenic patients","article_path":"articles/PMC2014539.md","variant_annotation_id":1183624234,"variant_haplotypes":"CYP2D6*1, CYP2D6*10","gene":"CYP2D6","drugs":"haloperidol","pmid":11560558,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the *10 allele showed significantly higher plasma concentration:dose ratios of haloperidol as compared to patients with the *1 allele. When stratified for dose, this association was seen only in patients receiving less than 20mg/day (P=.003). In patients receiving 20mg/day or more, the association with CYP2D6 genotype no longer existed (P=.667). No association was seen between CYP2D6 genotype and plasma concentration:dose ratios of reduced haloperidol. CYP2D6*5 alleles were not included in statistical analysis due to low sample size.","sentence":"CYP2D6 *10 is associated with decreased metabolism of haloperidol in people with Schizophrenia as compared to CYP2D6 *1.","alleles":"*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6423619","article_title":"Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19","article_path":"articles/PMC6423619.md","variant_annotation_id":1450935691,"variant_haplotypes":"rs762081829","gene":"CYP2C9","drugs":"tolbutamide","pmid":30745309,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In vitro analysis showed that intrinsic clearance of tolbutamide by CYP2C9 protein containing the T allele was 23% of that of the WT protein. Variant referred to as 218 C>T in the paper.","sentence":"Allele T is associated with decreased clearance of tolbutamide as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815015,"variant_haplotypes":"rs2636697","gene":"PPA2","drugs":"risperidone","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of G alleles present in a patient was positively associated with CGI-S score. Please note that this variant is in high linkage disequilibrium with rs2636719.","sentence":"Allele G is associated with decreased response to risperidone in people with Schizophrenia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862185,"variant_haplotypes":"rs740603","gene":"COMT","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs2075507,rs7287550, rs5746849, rs737866, rs6269, rs2239393, rs4818, rs4680, rs174699, rs165728). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here.","sentence":"Allele A is associated with decreased dose of morphine in people with Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11763628","article_title":"Phase II Study of Nanoliposomal Irinotecan (Nal-IRI) with 5-Fluorouracil and Leucovorin in Refractory Advanced High-Grade Neuroendocrine Cancer of Gastroenteropancreatic (GEP) or Unknown Origin","article_path":"articles/PMC11763628.md","variant_annotation_id":1452827300,"variant_haplotypes":"UGT1A1*28","gene":"UGT1A1","drugs":"fluorouracil, irinotecan, leucovorin","pmid":39858006,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"\"We also found no differences in the efficacy or toxicity profile of patients based on their UGT1A1*28 status.\"","sentence":"UGT1A1 *28 is not associated with decreased clinical benefit to fluorouracil, irinotecan and leucovorin in people with Neuroendocrine Tumors.","alleles":"*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Neuroendocrine Tumors","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":655388203,"variant_haplotypes":"rs1402467","gene":"SULT1C4","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with dbSNP, actual base not listed in paper)","sentence":"Allele G is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4405819","article_title":"CYP2B6*6, CYP2B6*18, Body weight and sex are predictors of efavirenz pharmacokinetics and treatment response: population pharmacokinetic modeling in an HIV/AIDS and TB cohort in Zimbabwe","article_path":"articles/PMC4405819.md","variant_annotation_id":1448997148,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":25889207,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP2B6*6 TT had 63% lower CL/F (CV=9%).","sentence":"Genotype TT are associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4100708","article_title":"Secondary metabolism pathway polymorphisms and plasma efavirenz concentrations in HIV-infected adults with CYP2B6 slow metabolizer genotypes","article_path":"articles/PMC4100708.md","variant_annotation_id":1184467538,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"efavirenz","pmid":24729586,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"A multivariate linear regression model that included CYP2A6 rs28399433, UGT2B7 rs2365062 and CYP2B6 rs28399499 explained 22% variance in efavirenz plasma concentrations. *Note: All participants were CYP2B6 slow metabolizers (defined by the following genotypes of two SNPs: rs3745274 TT, or rs3745274 T/rs28399499 C or rs28399499 CC).* Alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is associated with metabolism of efavirenz in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4270923","article_title":"G Protein-Coupled Receptor Kinase 5 Gene Polymorphisms Are Associated with Postoperative Atrial Fibrillation Following Coronary Artery Bypass Graft Surgery in Patients Receiving Beta-Blockers","article_path":"articles/PMC4270923.md","variant_annotation_id":1451862762,"variant_haplotypes":"rs4752292","gene":"GRK5","drugs":"Beta Blocking Agents","pmid":25049040,"phenotype_category":"Efficacy","significance":"yes","notes":"Single-nucleotide polymorphisms in 10 candidate genes were tested for association with atrial fibrillation after coronary artery bypass grafting despite perioperative beta blocker therapy. The authors did not clearly identify the rs4752292 risk allele; it is variously identified as A or T in the supplementary materials. It is here assumed to be T, because rs4752292 is annotated as a T > G variant. rs4752292 is in strong linkage disequilibrium with rs3740563.","sentence":"Allele T is associated with decreased response to Beta Blocking Agents in people with Coronary Artery Disease as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6219441","article_title":"Comprehensive Ara-C SNP score predicts leukemic cell intracellular ara-CTP levels in pediatric acute myeloid leukemia patients","article_path":"articles/PMC6219441.md","variant_annotation_id":1449752012,"variant_haplotypes":"rs4742","gene":"DCTD","drugs":"ara-CTP","pmid":30088438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented to plus chromosomal strand.","sentence":"Genotype GG is associated with decreased concentrations of ara-CTP in children with Leukemia, Myeloid, Acute as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3673300","article_title":"Fixed dose capecitabine is feasible: results from a pharmacokinetic and pharmacogenetic study in metastatic breast cancer","article_path":"articles/PMC3673300.md","variant_annotation_id":1183682259,"variant_haplotypes":"rs2072671","gene":"CDA","drugs":"capecitabine","pmid":23588952,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant differences in the area under the concentration-time curve from 0 to infinity (AUCinf) were seen between any of the genotypes (CC, AC, AA). Nor were any significant differences seen between these genotypes when considering the capecitabine metabolites 5'-DFCR, 5'-DFUR or 5'FU (5'-fluorouracil). Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is not associated with metabolism of capecitabine in people with Breast Neoplasms as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC7674153","article_title":"Association of MICA-129Met/Val polymorphism with clinical outcome of anti-TNF therapy and MICA serum levels in patients with rheumatoid arthritis","article_path":"articles/PMC7674153.md","variant_annotation_id":1451411060,"variant_haplotypes":"rs1051792","gene":"MICA","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":32123296,"phenotype_category":"Efficacy","significance":"yes","notes":"The association was significant at 3 months following treatment initiation, but significance was lost at the 6 month timepoint.","sentence":"Genotype GG is associated with decreased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC1874463","article_title":"Genetic polymorphisms in human CYP2A6 gene causing impaired nicotine metabolism","article_path":"articles/PMC1874463.md","variant_annotation_id":981201935,"variant_haplotypes":"CYP2A6*1, CYP2A6*4","gene":"CYP2A6","drugs":"nicotine","pmid":12445030,"phenotype_category":"Other, Metabolism/PK","significance":"no","notes":"Individuals with *4, *7, *10 alleles had impaired nicotine metabolism in this study. Statistics were comparing metabolism levels in Japanese and Korean subjects, rather than these alleles compared to wildtype.","sentence":"CYP2A6 *4 is associated with decreased metabolism of nicotine as compared to CYP2A6 *1.","alleles":"*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC11359404","article_title":"Genetic Variation in CYP2D6, UGT1A4, SLC6A2 and SLCO1B1 Alters the Pharmacokinetics and Safety of Mirabegron","article_path":"articles/PMC11359404.md","variant_annotation_id":1452574582,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"mirabegron","pmid":39204422,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"Lastly, a lower Cmax/DW was observed in the SLC19A1 rs1051266 A/A genotype compared to the A/G genotype (puv = 0.016) (Table 4). \"","sentence":"Genotype TT is associated with decreased dose-adjusted trough concentrations of mirabegron in healthy individuals as compared to genotype CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757008,"variant_haplotypes":"rs3093105","gene":"CYP4F2","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele C is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896105,"variant_haplotypes":"rs2511398","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4195667","article_title":"Personalized Tacrolimus Dose Requirement by CYP3A5 but Not ABCB1 or ACE Genotyping in Both Recipient and Donor after Pediatric Liver Transplantation","article_path":"articles/PMC4195667.md","variant_annotation_id":1185012360,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"tacrolimus","pmid":25310192,"phenotype_category":"Dosage","significance":"no","notes":"All liver transplant recipients were given tacrolimus 2-3 days post liver transplantation. Weight adjusted dose and concentration to dose ratio (C/D) were the primary outcomes. Dose and C/D were calculated based on measurements taken on day 3, 7 and 14 post-transplantation as well as the the 1st, 3rd, 6th and 12th month post-transplantation. ABCB1 genotype was not significantly associated with C/D of tacrolimus at any time point.","sentence":"Genotype AA is not associated with concentrations of tacrolimus in children with liver transplantation.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3071070","article_title":"Association of Pharmacogenetic Markers with Premature Discontinuation of First-line Anti-HIV Therapy: An Observational Cohort Study","article_path":"articles/PMC3071070.md","variant_annotation_id":1184747491,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"tenofovir","pmid":21288825,"phenotype_category":"Toxicity","significance":"no","notes":null,"sentence":"Genotypes AA + AG is not associated with increased discontinuation of tenofovir in people with HIV Infections as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4527535","article_title":"Multigene predictors of tacrolimus exposure in kidney transplant recipients","article_path":"articles/PMC4527535.md","variant_annotation_id":1444934293,"variant_haplotypes":"CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":26067485,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association was observed between CYP3A4*22 genotype and tacrolimus trough concentrations after multivariable analysis adjusting for CYP3A5*1 status and clinical factors. The authors note that the CYP3A4*22 variant was infrequent with a low minor allele frequency. n=35,043 tacrolimus trough concentrations were available for analysis.","sentence":"CYP3A4 *22 is not associated with trough concentration of tacrolimus in people with Kidney Transplantation.","alleles":"*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3125052","article_title":"The impact of VKORC1-1639 G>A polymorphism on the maintenance dose of oral anticoagulants for thromboembolic prophylaxis in North India: A pilot study","article_path":"articles/PMC3125052.md","variant_annotation_id":827826043,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":21747589,"phenotype_category":"Dosage, Metabolism/PK","significance":"not stated","notes":"in Indian patients.","sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2673121","article_title":"Relative contribution of CYP2C9 and VKORC1 genotypes and early INR response to the prediction of warfarin sensitivity during initiation of therapy","article_path":"articles/PMC2673121.md","variant_annotation_id":1447573274,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":19074728,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"CYP2C9 *2 + *3 are associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5354739","article_title":"Pharmacogenetic analysis of high-dose methotrexate treatment in children with osteosarcoma","article_path":"articles/PMC5354739.md","variant_annotation_id":1449188891,"variant_haplotypes":"rs6785049","gene":"NR1I2","drugs":"methotrexate","pmid":27566582,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Concentrations refers to concentration at 48 hrs","sentence":"Allele G is associated with increased concentrations of methotrexate in children with Osteosarcoma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114900,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and virologic suppression in patients treated with lopinavir/ritonavir. Variant referred to in the paper as A388G.","sentence":"Allele G is not associated with response to lopinavir or ritonavir in children with HIV Infections as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC11608742","article_title":"Effects of genetic variants of organic cation transporters on metformin response in newly diagnosed patients with type 2 diabetes","article_path":"articles/PMC11608742.md","variant_annotation_id":1452724995,"variant_haplotypes":"rs4621031","gene":"ALDH3A2","drugs":"metformin","pmid":39612420,"phenotype_category":"Efficacy","significance":"no","notes":"\"Other SNPs (rs4621031, rs34399035, rs1800058, and rs11212617) had no significant impact on metformin response. \"","sentence":"Allele T is not associated with decreased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6387687","article_title":"Carfilzomib and lenalidomide response related to VEGF and VEGFR2 germline polymorphisms","article_path":"articles/PMC6387687.md","variant_annotation_id":1448634666,"variant_haplotypes":"rs1870377","gene":"KDR","drugs":"carfilzomib, dexamethasone, lenalidomide","pmid":28488026,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by \"minimum residual disease negativity\" (MRD-). Gene is on negative strand, alleles complemented to positive strand. Authors reported for response associated allele as protein change as 472Q.","sentence":"Genotypes AT + TT is associated with increased response to carfilzomib, dexamethasone and lenalidomide in people with Multiple Myeloma as compared to genotype AA.","alleles":"AT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Multiple Myeloma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4195667","article_title":"Personalized Tacrolimus Dose Requirement by CYP3A5 but Not ABCB1 or ACE Genotyping in Both Recipient and Donor after Pediatric Liver Transplantation","article_path":"articles/PMC4195667.md","variant_annotation_id":1185012341,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"tacrolimus","pmid":25310192,"phenotype_category":"Dosage","significance":"no","notes":"All liver transplant recipients were given tacrolimus 2-3 days post liver transplantation. Weight adjusted dose and concentration to dose ratio (C/D) were the primary outcomes. Dose and C/D were calculated based on measurements taken on day 3, 7 and 14 post-transplantation as well as the the 1st, 3rd, 6th and 12th month post-transplantation. ABCB1 genotype was not significantly associated with C/D of tacrolimus at any time point.","sentence":"Genotype AA is not associated with concentrations of tacrolimus in children with liver transplantation.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3081375","article_title":"Tamoxifen Metabolite Concentrations, CYP2D6 Genotype and Breast Cancer Outcomes","article_path":"articles/PMC3081375.md","variant_annotation_id":1444935672,"variant_haplotypes":"CYP2D6 poor metabolizers","gene":"CYP2D6","drugs":"tamoxifen","pmid":21430657,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Included were patients with ER-positive tumor who had been taking tamoxifen for at least 4 month. no info on menopausal status. Genotyped using AmpliChip CYP450 Test. (i) nonfunctional (PM) alleles include CYP2D6*3, *4, *5, *6, *7, *8, *11, *14A, *15, *19, *20, and *40, and the *4XN gene duplication; (ii) reduced function (intermediate metabolizer) alleles include CYP2D6*9, *10, *17, *29, *36, and *41, and gene duplications *10XN, *17XN, and *41XN; (iii) fully functional (extensive metabolizer or EM) alleles include CYP2D6*1, *2, and *35 and (iv) increased function (ultrarapid metabolizer) phenotype alleles include gene duplications such as CYP2D6*1XN, *2XN, and *35XN. [pre-menopausal][post-menopausal] [adjuvant] [DNA source: blood] [HWE: yes]","sentence":"CYP2D6 poor metabolizer is not associated with increased concentrations of tamoxifen in women with Breast Neoplasms as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451673040,"variant_haplotypes":"rs143841823","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as neutral function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele G is not associated with metabolism of nicotine as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4615595","article_title":"Association of Common C-Reactive Protein (CRP) Gene Polymorphisms With Baseline Plasma CRP Levels and Fenofibrate Response","article_path":"articles/PMC4615595.md","variant_annotation_id":982044398,"variant_haplotypes":"rs1417938","gene":"CRP","drugs":"fenofibrate","pmid":18285551,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the TT genotype had a greater reduction in C-reactive protein (CRP) levels between baseline and 3 weeks of treatment, as compared to carriers of the A allele. In strong linkage disequilibrium with rs3091244 and rs1205 (r2 = 0.4 - 0.9, p < 0.001) and in weak linkage disequilibrium with rs3093059 (r2 = 0.17, p < 0.05).","sentence":"Genotype TT is associated with increased response to fenofibrate in people with Metabolic Syndrome as compared to genotypes AA + AT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metabolic Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AT","comparison_metabolizer_types":null} +{"pmcid":"PMC4012347","article_title":"Possible impact of the CYP2D6*10 polymorphism on the nonlinear pharmacokinetic parameter estimates of paroxetine in Japanese patients with major depressive disorders","article_path":"articles/PMC4012347.md","variant_annotation_id":1184747953,"variant_haplotypes":"CYP2D6*2, CYP2D6*5, CYP2D6*10, CYP2D6*39","gene":"CYP2D6","drugs":"paroxetine","pmid":24868171,"phenotype_category":"Metabolism/PK","significance":"no","notes":"CYP2D6*2/*10 (n=2), CYP2D6*10/*39 (n=2), CYP2D6*39/*39 (n=2), CYP2D6*10/*10 (n=6), CYP2D6*5/*39 (n=2), and CYP2D6*5/*10 (n=1). The genotypes were grouped as follow: CYP2D6*10 allele carriers and noncarriers. Plasma paroxetine concentrations between the CYP2D6 genotypes using the Mann\u2013Whitney U-test, the plasma concentrations did not differ significantly between the CYP2D6*10 allele carriers and the noncarriers among the patients treated with 20 mg/day, 30 mg/day, or 40 mg/day of paroxetine (P=0.673, P=1.000, and P=0.400, respectively). Km (p=0.008) and Vmax (p=0.022) values were significantly smaller in CYP2D6*10 allele carriers than in the noncarriers.","sentence":"CYP2D6 *2/*10 + *10/*39 + *10/*10 + *5/*10 is not associated with concentrations of paroxetine in people with Depressive Disorder, Major as compared to CYP2D6 *39/*39 + *5/*39.","alleles":"*2/*10 + *10/*39 + *10/*10 + *5/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*39/*39 + *5/*39","comparison_metabolizer_types":null} +{"pmcid":"PMC5306492","article_title":"Polymorphisms in ABCB1 and CYP19A1 genes affect anastrozole plasma concentrations and clinical outcomes in postmenopausal breast cancer patients","article_path":"articles/PMC5306492.md","variant_annotation_id":1448614994,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"anastrozole","pmid":27747906,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles have been complemented to the positive strand.","sentence":"Genotype GG is not associated with concentrations of anastrozole in women with Breast Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5908896","article_title":"Association of STAT-3 rs1053004 and VDR rs11574077 With FOLFIRI-Related Gastrointestinal Toxicity in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC5908896.md","variant_annotation_id":1449557367,"variant_haplotypes":"rs6031587","gene":"HNF4A","drugs":"irinotecan","pmid":29706892,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with metabolism of irinotecan in people with Colorectal Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11158672","article_title":"Influence of ABCB1 and ABCG2 polymorphisms on doxorubicin disposition in Asian breast cancer patients","article_path":"articles/PMC11158672.md","variant_annotation_id":827836346,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"doxorubicin","pmid":18377430,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Significance given for the haplotype of ABCB1 c.1236C>T, c.2677G>A/T, and c.3435C>T (rs1128503, rs2032582 and rs1045642) which was associated with increased drug exposure and reduced clearance. Patients harboring the CC-GG-CC genotypes had significantly lower peak plasma concentrations of doxorubicinol compared to patients who had TT-TT-TT genotypes (P = 0.03).","sentence":"Genotype AA is associated with decreased metabolism of doxorubicin in people with Breast Neoplasms as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3525665","article_title":"SLC22A1-ABCB1 Haplotype Profiles Predict Imatinib Pharmacokinetics in Asian Patients with Chronic Myeloid Leukemia","article_path":"articles/PMC3525665.md","variant_annotation_id":982046272,"variant_haplotypes":"rs628031","gene":"SLC22A1","drugs":"imatinib","pmid":23272163,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This SNP was not significantly correlated with imatinib pharmacokinetics individually, but was significant when studied as part of a haplotype including IVS6-878C>A(rs3798168) and IVS7+850C>T polymorphisms. Patients carrying 2 copies of AGT or CGC haplotypes (rs3798168, rs628031, IVS7+850C>T) had significantly higher (50%) imatinib trough levels and significantly lower (33.4%) clearance than patients with zero or 1 copy.","sentence":"Genotype GG is associated with decreased clearance of imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4265416","article_title":"Haplotypes of P2RX7 gene polymorphisms are associated with both cold pain sensitivity and analgesic effect of fentanyl","article_path":"articles/PMC4265416.md","variant_annotation_id":1450821457,"variant_haplotypes":"rs2708092","gene":"P2RX7","drugs":"fentanyl","pmid":25472448,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and 24-h postoperative fentanyl use or perioperative fentanyl use.","sentence":"Allele G is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3434304","article_title":"Predicting Inhaled Corticosteroid Response in Asthma with Two Associated SNPs","article_path":"articles/PMC3434304.md","variant_annotation_id":827921704,"variant_haplotypes":"rs1876828","gene":"CRHR1","drugs":"glucocorticoids","pmid":22641026,"phenotype_category":"Efficacy","significance":"yes","notes":"as part of a two SNP predictive test of FEV1 change, which identified patients with good or poor steroid response (highest or lowest quartile, respectively). P values are for predictive performance of the test.","sentence":"Allele T is associated with increased response to glucocorticoids in people with Asthma as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815058,"variant_haplotypes":"rs17742120","gene":"PDE4D","drugs":"quetiapine","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of G alleles present in a patient was negatively associated with PGI score. Please note that this variant is in high linkage disequilibrium with rs17382202 and rs2164660.","sentence":"Allele G is associated with increased response to quetiapine in people with Schizophrenia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC556232","article_title":"Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin","article_path":"articles/PMC556232.md","variant_annotation_id":613978582,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"phenytoin","pmid":15805193,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele C is associated with increased dose of phenytoin in people with Epilepsy as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928135,"variant_haplotypes":"rs2515641","gene":"CYP2E1","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"The T allele was initially significantly more frequent in patients designated as responders to risperidone (i.e. >50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.","sentence":"Allele T is associated with increased response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10769478","article_title":"The role of IL10 and IL17 gene polymorphisms in treatment response in children and adolescents with severe asthma","article_path":"articles/PMC10769478.md","variant_annotation_id":1452358680,"variant_haplotypes":"rs3819024","gene":"IL17A","drugs":"budesonide, fluticasone/salmeterol, formoterol, omalizumab","pmid":38232251,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by FEV1. \"Asthma patients with the AG or GG genotype showed less bronchodilator responsiveness than did those with the AA genotype (p < 0.05; Mann-Whitney test). \" \"Some patients were using dry-powder inhalers that delivered a combination of budesonide and formoterol, whereas others were using pressurized metered-dose inhalers that delivered a combination of fluticasone and salmeterol or omalizumab only\"","sentence":"Genotypes AG + GG is associated with decreased clinical benefit to budesonide, fluticasone/salmeterol, formoterol or omalizumab in children with Asthma as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC2432487","article_title":"Effect of CYP2C19*2 and *17 mutations on pharmacodynamics and kinetics of proton pump inhibitors in Caucasians","article_path":"articles/PMC2432487.md","variant_annotation_id":1447947268,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"lansoprazole, omeprazole","pmid":18241283,"phenotype_category":"Efficacy","significance":"yes","notes":"Based on cumulative mean percentage of time with intragastric pH>4 on day 1.","sentence":"CYP2C19 *1/*1 + *1/*17 are associated with decreased response to lansoprazole or omeprazole in healthy individuals as compared to CYP2C19 *1/*2 + *2/*17 + *2/*2.","alleles":"*1/*1 + *1/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *2/*17 + *2/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC3988537","article_title":"Influence of RGS2 on Sertraline Treatment for Social Anxiety Disorder","article_path":"articles/PMC3988537.md","variant_annotation_id":1452043330,"variant_haplotypes":"rs6313","gene":"HTR2A","drugs":"sertraline","pmid":24154666,"phenotype_category":"Efficacy","significance":"no","notes":"rs6313 was not associated with significant differences in change in LSAS score in patients receiving sertraline.","sentence":"Allele A is not associated with response to sertraline in people with Anxiety Disorders as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Anxiety Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4298011","article_title":"Adrenergic receptor genotype influences heart failure severity and \u03b2-blocker response in children with dilated cardiomyopathy","article_path":"articles/PMC4298011.md","variant_annotation_id":1451544786,"variant_haplotypes":"rs1801253","gene":"ADRB1","drugs":"Beta Blocking Agents","pmid":25406899,"phenotype_category":"Efficacy","significance":"yes","notes":"Study looked at effect of 'high-risk' genotypes (i.e. genotypes of one or more of rs61767072 del, rs1801253 C or rs1042713 A alleles) on response to beta-blockers. Patients with more 'high-risk' alleles showed a greater response to beta-blockers than those with fewer 'high-risk' alleles.","sentence":"Allele C is associated with increased response to Beta Blocking Agents in children with Cardiomyopathy, Dilated as compared to allele G.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Cardiomyopathy, Dilated","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896047,"variant_haplotypes":"rs1470108","gene":"MIR7-2","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767377,"variant_haplotypes":"rs17163429","gene":"AIDA","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele C is not associated with trough concentration of vancomycin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2992873","article_title":"Genetic Variation of VKORC1 and CYP4F2 Genes Related to Warfarin Maintenance Dose in Patients with Myocardial Infarction","article_path":"articles/PMC2992873.md","variant_annotation_id":981500592,"variant_haplotypes":"rs17708472","gene":"VKORC1","drugs":"warfarin","pmid":21127708,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"This is VKORC1 *4. There was a significant association when analyzed alone, but the effect was so small that it was negligible when analyzed with VKORC1*2,CYP2C9*2 and CYP2C9*3.","sentence":"Allele A is associated with increased dose of warfarin in people with Myocardial Infarction as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Myocardial Infarction","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC9028965","article_title":"Influence of Receptor Polymorphisms on the Response to \u03b1-Adrenergic Receptor Blockers in Pheochromocytoma Patients","article_path":"articles/PMC9028965.md","variant_annotation_id":1451770141,"variant_haplotypes":"rs521674","gene":"ADRA2A","drugs":"doxazosin, phenoxybenzamine","pmid":35453646,"phenotype_category":"Dosage","significance":"no","notes":"\"the T allele of rs521674 in ADRA2A was associated with a three times higher risk (being in a higher dosage step) than the A allele\" \"However, none of these significances survived the multiple testing correction.\"","sentence":"Allele T is associated with increased dose of doxazosin or phenoxybenzamine in people with Pheochromocytoma or Paraganglioma as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pheochromocytoma, Other:Paraganglioma","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699038,"variant_haplotypes":"rs11103182","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele G is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566681,"variant_haplotypes":"rs1662060","gene":"ADH1C","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this snp is NOT significant after Bonferroni correction (<0.00049). Also, the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele C is associated with metabolism of ethanol.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4956330","article_title":"Prediction of Warfarin Dose in Pediatric Patients: An Evaluation of the Predictive Performance of Several Models","article_path":"articles/PMC4956330.md","variant_annotation_id":1448255569,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":27453700,"phenotype_category":"Dosage","significance":"not stated","notes":null,"sentence":"Allele G is associated with dose of warfarin in children with Heart Diseases.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2910688","article_title":"Associations between tamoxifen, estrogens, and FSH serum levels during steady state tamoxifen treatment of postmenopausal women with breast cancer","article_path":"articles/PMC2910688.md","variant_annotation_id":1445401203,"variant_haplotypes":"CYP2D6*1, CYP2D6*4, CYP2D6*5","gene":"CYP2D6","drugs":"4-hydroxytamoxifen, endoxifen","pmid":20565970,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The study observed a relations between the serum levels of 4OHtam and endoxifen and CYP2D6 gene dose effect. Postmenopausal women adjuvantly treated with tamoxifen 20 mg daily with ER positive breast cancer. DNA was extracted from blood and *3, *4, *5 and *6 were determined.","sentence":"CYP2D6 *4/*4 + *4/*5 are associated with decreased concentrations of 4-hydroxytamoxifen and endoxifen in women with as compared to CYP2D6 *1/*1.","alleles":"*4/*4 + *4/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC10196221","article_title":"Genetic variants influenced the risk of bleeding and pharmacodynamics of rivaroxaban in patients with nonvalvular atrial fibrillation: A multicentre prospective cohort study","article_path":"articles/PMC10196221.md","variant_annotation_id":1452107300,"variant_haplotypes":"rs885821","gene":"PRF1","drugs":"rivaroxaban","pmid":37203300,"phenotype_category":"Toxicity","significance":"no","notes":"as measured by peak anti\u2010FXa level. Association described as \"suggestive\". \"The incidence of bleeding events were significantly related to the peak anti\u2010FXa level, which were significantly increased in patients with bleeding events than in those without\"","sentence":"Allele G is associated with increased response to rivaroxaban in people with Atrial Fibrillation as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003659,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to lumefantrine in women with Malaria and Pregnancy as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4541975","article_title":"CYP2B6*6 allele and age substantially reduce steady-state ketamine clearance in chronic pain patients: impact on adverse effects","article_path":"articles/PMC4541975.md","variant_annotation_id":1444698157,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"ketamine","pmid":25702819,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Median plasma clearance in the *6/*6 genotype was 21.6 L/h, *1/*6 genotype 40.6 L/h and *1/*1 genotype 68.1 L/h. In linear regression analysis the *6 allele explained 40%, 43%, and 41% of the variability in ketamine clearance when the dose was 100, 300 and 500 mg/24 hrs. The authors state that the study was insufficiently powered to study the association between adverse effects and genotype and most of the adverse events were reported in patients with the CYP2B6 *1/*1 genotype.","sentence":"CYP2B6 *6 is associated with decreased clearance of ketamine in people with Neoplasms and Pain as compared to CYP2B6 *1.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms, Disease:Pain","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC8767566","article_title":"Effect of HIV, antiretrovirals, and genetics on methadone pharmacokinetics: Results from the methadone antiretroviral pharmacokinetics study","article_path":"articles/PMC8767566.md","variant_annotation_id":1451516560,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"(R)-methadone","pmid":34482033,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The ABCB1 rs2032582 AA genotype significantly decreased R-methadone CL/F.\"","sentence":"Genotype AA is associated with decreased clearance of (R)-methadone in people with HIV Infections as compared to genotypes AT + TT.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2756088","article_title":"Influence of CYP2C9 Genotype on warfarin dose among African American and European Americans","article_path":"articles/PMC2756088.md","variant_annotation_id":1183701419,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*5, CYP2C9*6, CYP2C9*10, CYP2C9*11","gene":"CYP2C9","drugs":"warfarin","pmid":19802360,"phenotype_category":"Dosage","significance":"yes","notes":"Where (*2+*3+*5+*6+*11) are considered variant (*V), Average Daily maintenance dose for *1/*1 > *1/*V > *V/*V. *5,*6,*11 were only seen in African-Americans. This result was significant in European-Americans but not in African-Americans.","sentence":"CYP2C9 *11 + *2 + *3 + *5 + *6 is associated with decreased dose of warfarin as compared to CYP2C9 *1.","alleles":"*11 + *2 + *3 + *5 + *6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3565812","article_title":"Convergent animal and human evidence suggests the activin/inhibin pathway to be involved in antidepressant response","article_path":"articles/PMC3565812.md","variant_annotation_id":981939599,"variant_haplotypes":"rs12082710","gene":"TGFBR3","drugs":"antidepressants","pmid":23092981,"phenotype_category":"Efficacy","significance":"yes","notes":"Homozygote carriers of the T allele were more frequent among responders to antidepressant treatment as compared to non-responders. Response to treatment was defined as a score reduction of greater than 50% on the 21-item Hamilton Depression Rating Scale (HAM-D) between score at admission and score 5 weeks after treatment initiation.","sentence":"Genotype TT is associated with increased response to antidepressants in people with Depression as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104645,"variant_haplotypes":"rs222749","gene":"TRPV1","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele was found at a significantly higher frequency in non-responders than in responders. Note that this variant was not present at Hardy-Weinberg equilibrium in the study cohort (p=0.00006).","sentence":"Allele A is associated with decreased response to botulinum toxin type a in women with Migraine NOS as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4692529","article_title":"A Randomized Trial of Pharmacogenetic Warfarin Dosing in Na\u00efve Patients with Non-Valvular Atrial Fibrillation","article_path":"articles/PMC4692529.md","variant_annotation_id":1448276503,"variant_haplotypes":"CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":26710337,"phenotype_category":"Dosage","significance":"not stated","notes":"This study assessed whether a pharmacogenetic algorithm, which included these variants as well as the VKORC1 rs9923231 and CYP4F2*3 variants, is superior in overall anticoagulation control when compared to clinical standard of care.","sentence":"CYP2C9 *2 + *3 are associated with dose of warfarin.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11359404","article_title":"Genetic Variation in CYP2D6, UGT1A4, SLC6A2 and SLCO1B1 Alters the Pharmacokinetics and Safety of Mirabegron","article_path":"articles/PMC11359404.md","variant_annotation_id":1452574540,"variant_haplotypes":"rs2011425","gene":"UGT1A4","drugs":"mirabegron","pmid":39204422,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Also, the t1/2 was higher in the UGT1A4 rs2011425 T/G genotype compared to the T/T genotype (puv = 0.002, pmv = 0.003, \u03b2 = 0.268, R2 = 0.381) (Table 4). \"","sentence":"Genotype GT is associated with increased half-life time of mirabegron in healthy individuals as compared to genotype TT.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"half-life time of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC9820603","article_title":"Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks","article_path":"articles/PMC9820603.md","variant_annotation_id":1452569900,"variant_haplotypes":"rs1800587","gene":"IL1A","drugs":"aspirin, diclofenac, ibuprofen, indomethacin, ketorolac, naproxen","pmid":36614097,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with clinical benefit to aspirin, diclofenac, ibuprofen, indomethacin, ketorolac or naproxen in people with Migraine without Aura as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5619051","article_title":"Influence of common and rare genetic variation on warfarin dose among African\u2013Americans and European\u2013Americans using the exome array","article_path":"articles/PMC5619051.md","variant_annotation_id":1451408520,"variant_haplotypes":"rs12777823","gene":null,"drugs":"warfarin","pmid":28686080,"phenotype_category":"Dosage","significance":"yes","notes":"in patients initiating warfarin treatment with a target international normalized ratio (INR) of 2 to 3. Direction of the relationship of allele to dose is not explicitly stated. rs12777823 is described as \"within the CYP2C gene cluster\" and \"upstream from CYP2C18\".","sentence":"Allele A is associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472447,"variant_haplotypes":"rs7294","gene":"VKORC1","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"yes","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"Allele T is associated with increased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981794008,"variant_haplotypes":"rs183484","gene":"RRM1","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"yes","notes":"Patients with the AC genotype had shorter progression free survival than patients with either the AA or the CC genotypes. However, tumor response to therapy and risk of developing neutropenia did not significantly differ between genotype groups. There were four SNPs in this study that, when taken together, affected progression free survival: rs183484, rs2072671, rs760370, and rs9937. Using patients with 0 or 1 variant as reference, patients with 2 variants had an increased HR of 1.79 (P = 0.004) and patients with 3-4 variants has an increased HR of 3.25 (P < 0.001).","sentence":"Genotype AC is associated with decreased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AA + CC.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981747571,"variant_haplotypes":"rs75982813","gene":"NEDD4L","drugs":"atenolol","pmid":23353631,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to atenolol in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2754599","article_title":"CYP2B6 Variants and Plasma Efavirenz Concentrations during Antiretroviral Therapy in Port-au-Prince, Haiti","article_path":"articles/PMC2754599.md","variant_annotation_id":1184471413,"variant_haplotypes":"rs36118214","gene":"CYP2B6","drugs":"efavirenz","pmid":19659438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As determined by significantly different efavirenz plasma levels in patients with genotypes in the order AAT) (r squared = 0.242).","sentence":"Genotype GG is associated with decreased metabolism of efavirenz in people with HIV Infections as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4583245","article_title":"A Genome-Wide Association Study of a Biomarker of Nicotine Metabolism","article_path":"articles/PMC4583245.md","variant_annotation_id":1446903336,"variant_haplotypes":"rs56113850","gene":"CYP2A6","drugs":"nicotine","pmid":26407342,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The minor allele was independently associated with decreased NMR, indicating decreased rate of nicotine clearance. rs56113850 and rs12461964 were in LD with CYP2A6*2, and esv2663194 (not annotated) was in LD with CYP2A6*9. rs56113850, rs12461964, and esv2663194 emerged as signals independently associated with NMR in GWAS and in conditional analyses. A fourth signal, rs113288603, was not significant in GWAS, but was significant after conditioning on the top associated SNP, rs56113850.","sentence":"Allele T is associated with decreased clearance of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC9610285","article_title":"Polymorphism of Drug Transporters, Rather Than Metabolizing Enzymes, Conditions the Pharmacokinetics of Rasagiline","article_path":"articles/PMC9610285.md","variant_annotation_id":1451928660,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"rasagiline","pmid":36297437,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"tmax was significant (other values consistent with this) and remained significant after Bonferroni.","sentence":"Genotype AA is associated with decreased clearance of rasagiline in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10501538","article_title":"Genetic polymorphisms of microsomal epoxide hydrolase and UDP-glucuronosyltransferase (UGT) and its effects on plasma carbamazepine levels and metabolic ratio in persons with epilepsy of South India: A cross-sectional genetic association study","article_path":"articles/PMC10501538.md","variant_annotation_id":1452207260,"variant_haplotypes":"rs1051740","gene":"EPHX1","drugs":"carbamazepine","pmid":37555408,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"In EPHX1 c. 337 (T > C) polymorphism, the PWE carrying CC had lower plasma CBZ levels when compared to the CT genotype (2.45 \u03bcg/mL vs. 3.15 \u03bcg/mL) (conversion of the natural logarithm of plasma CBZ to plasma CBZ level using e^lnplasma CBZ level), but not found to be statistically significant between EPHX1 genotypes.\"","sentence":"Genotype CC is associated with decreased dose-adjusted trough concentrations of carbamazepine in people with Epilepsy as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163228,"variant_haplotypes":"rs2237991","gene":"ABCC8","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6179259","article_title":"KIF6 gene as a pharmacogenetic marker for lipid-lowering effect in statin treatment","article_path":"articles/PMC6179259.md","variant_annotation_id":1449748065,"variant_haplotypes":"rs20455","gene":"KIF6","drugs":"simvastatin","pmid":30304062,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. A statistically significant association was seen between genotype and change in c-LDL levels, but no association was seen between genotype and change in c-HDL levels.","sentence":"Genotype GG is associated with decreased response to simvastatin in people with Hypercholesterolemia as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3433845","article_title":"Interplay of Genetic Risk Factors (CHRNA5-CHRNA3-CHRNB4) and Cessation Treatments in Smoking Cessation Success","article_path":"articles/PMC3433845.md","variant_annotation_id":827922003,"variant_haplotypes":"rs680244","gene":"CHRNA5","drugs":"Drugs used in nicotine dependence","pmid":22648373,"phenotype_category":"Other","significance":"yes","notes":"in haplotype analysis; individuals with haplotype 2 (rs16969968 allele G - rs680244 allele T) were more likely to respond to active treatment/ had a lower risk of relapse (ability to quit smoking as measured by time to relapse to smoking over 60 days) than those with haplotype 2 that were treated with placebo. The ability to quit cigarette smoking was not significantly different in individuals with haplotype 1 (rs16969968 allele G - rs680244 allele C) that underwent active treatment compared to placebo (p=0.36).","sentence":"Allele T is associated with increased response to Drugs used in nicotine dependence in people with Tobacco Use Disorder.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815085,"variant_haplotypes":"rs813676","gene":"TJP1","drugs":"risperidone","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of T alleles present in a patient was negatively associated with PGI score. Please note that this variant is in high linkage disequilibrium with rs711355 and rs785423.","sentence":"Allele T is associated with increased response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5478306","article_title":"Correlation of MDR1 gene polymorphisms with anesthetic effect of sevoflurane\u2013remifentanil following pediatric tonsillectomy","article_path":"articles/PMC5478306.md","variant_annotation_id":1448639460,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"remifentanil, sevoflurane","pmid":28614221,"phenotype_category":"Efficacy","significance":"no","notes":"The GG genotype was not associated with visual analog scale scores, time of induction, respiration recovery, eyeopening, and extubation, Ramsay sedation scores Face, Legs, Activity, Cry, Consolability scale (FLACC) scores.","sentence":"Genotype GG is not associated with response to remifentanil and sevoflurane in children with tonsillectomy as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Other:tonsillectomy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4915265","article_title":"Variation in Dopamine D2 and Serotonin 5-HT2A Receptor Genes is Associated with Working Memory Processing and Response to Treatment with Antipsychotics","article_path":"articles/PMC4915265.md","variant_annotation_id":1447813766,"variant_haplotypes":"rs6314","gene":"HTR2A","drugs":"olanzapine","pmid":25563748,"phenotype_category":"Efficacy","significance":"yes","notes":"The associations were evaluated in conjunction with rs1076560 in the DRD2 gene. rs1076560 GT/rs6314 CC diplotype was associated with better responses to antipsychotics than the rs1076560 GG/rs6314 CT diplotype","sentence":"Genotype GG is associated with increased response to olanzapine in people with Schizophrenia as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5558527","article_title":"A genetic risk score is associated with statin-induced low-density lipoprotein cholesterol lowering","article_path":"articles/PMC5558527.md","variant_annotation_id":1447986147,"variant_haplotypes":"rs17171676","gene":"SUGCT","drugs":"hmg coa reductase inhibitors","pmid":27045730,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was found to be approaching significance in discovery cohort but was not significant in the replication cohort or combined cohorts. Direction of effect and specific allele was not explicitly described in paper.","sentence":"Allele C is associated with response to hmg coa reductase inhibitors as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC11152251","article_title":"Effect of SCN1Aand SCN2A gene polymorphisms on the efficacy of valproic acid treatment in Chinese children with epilepsy","article_path":"articles/PMC11152251.md","variant_annotation_id":1452498420,"variant_haplotypes":"rs17183814","gene":"SCN2A","drugs":"valproic acid","pmid":38837984,"phenotype_category":"Efficacy","significance":"yes","notes":"\"However, the situation at the SCN2A rs17183814 locus differs. We observed a significantly higher proportion of individuals with the GG genotype in the VPA responsive group compared to the VPA resistant group (P = 0.025), as depicted in Fig 7. This finding indicates that the GG genotype may be associated with a positive response to VPA treatment. Furthermore, employing the dominant genetic model analysis revealed that the AA+AG genotype was more prevalent in the VPA resistant group than in the responsive group (P = 0.044), further underscoring the potential significance of the rs17183814 locus in predicting VPA treatment outcomes.\"","sentence":"Genotypes AA + AG is associated with increased resistance to valproic acid in children with Epilepsy as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981794170,"variant_haplotypes":"rs7853758","gene":"SLC28A3","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Tumor response to therapy, progression free survival, and risk of neutropenia development did not significantly differ between genotype groups.","sentence":"Genotype GG is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170929,"variant_haplotypes":"CYP2C9 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2C9","drugs":"tamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2C9 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of tamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003666,"variant_haplotypes":"rs10264272","gene":"CYP3A5, ZSCAN25","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to lumefantrine in women with Malaria and Pregnancy as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4470685","article_title":"Genome-Wide Association Study Identifies Novel Pharmacogenomic Loci For Therapeutic Response to Montelukast in Asthma","article_path":"articles/PMC4470685.md","variant_annotation_id":1444929667,"variant_haplotypes":"rs1364805","gene":null,"drugs":"montelukast","pmid":26083242,"phenotype_category":"Efficacy","significance":"no","notes":"This allele showed a trend toward association but not at the genome wide significance level. Study Cohort: Discovery cohort (N=133): American Lung Association Asthma Clinical Research Center (ALA-ACRC)-supported trials, the Leukotriene Modifier Or Corticosteroid or Corticosteroid-Salmeterol Trial (LOCCS) and Effectiveness of Low Dose Theophylline as Add On Therapy for the Treatment of Asthma (LODO) trials. Replication cohort (N=184): Childhood Asthma Research and Education (CARE) Network- Characterizing the Response to a LT Receptor Antagonist and an Inhaled Corticosteroid and Pediatric Asthma Controller Trial (CLIC and PACT).","sentence":"Allele T is associated with increased response to montelukast in people with Asthma as compared to allele G.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":699638963,"variant_haplotypes":"rs730720","gene":"CHST3","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with dbSNP, actual base not listed in paper, since frequencies are close have low confidence in this allele assignment)","sentence":"Allele C is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2750008","article_title":"A single tumour necrosis factor haplotype influences the response to adalimumab in rheumatoid arthritis","article_path":"articles/PMC2750008.md","variant_annotation_id":1444693800,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"adalimumab","pmid":17673491,"phenotype_category":"Efficacy","significance":"yes","notes":"When in a haplotype with rs1799724 and rs361525. Response defined as a 50% percent response to adalimumab therapy according to the American College of Rheumatology criteria (ACR50 responders) at week 12 after treatment initiation. Those homozygous for the GGC (rs361525-rs1800629-rs1799724) haplotype had a significantly lower ACR50 response rate as compared to subjects with any other diplotype (see paper for diplotypes present in population). This effect was more important in a subgroup of patients receiving concomitant methotrexate.","sentence":"Genotype GG is associated with decreased response to adalimumab in people with Arthritis, Rheumatoid.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3214266","article_title":"The interactions of age, genetics, and disease severity on tacrolimus dosing requirements after pediatric kidney and liver transplantation","article_path":"articles/PMC3214266.md","variant_annotation_id":1184998169,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":21698374,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"In pediatric kidney transplantation recipients, CYP3A5 expressers needed higher tacrolimus dose (0.14 mg/kg vs 0.09 mg/kg/12h) than CYP3A5 non-expressers. CYP3A5 expressers also needed more upward dose changes and had lower median tacrolimus concentration and lower C/D ratios. Multivariate analysis showed youger age and CYP3A5 expresser genotype were independently associated with higher tacrolimus dose requirement.","sentence":"Genotypes CT + TT is associated with increased metabolism of tacrolimus in children with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3899768","article_title":"SLC28A3 genotype and gemcitabine rate of infusion affect dFdCTP metabolite disposition in patients with solid tumours","article_path":"articles/PMC3899768.md","variant_annotation_id":1184174878,"variant_haplotypes":"rs1048977","gene":"CDA","drugs":"gemcitabine","pmid":24300978,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Gemcitabine, dFdCTP, and dFdU plasma concentrations were measured before (5, 15, 30, 45 min) and after gemcitabine infusion (1, 1.25, 1.5, 2, 6, 24, 48, 72 hrs). Population pharmacokinetic analysis of gemcitabine and metabolites (dFdU, dFdCTP) were performed by non-linear mixed effects modeling. Although this SNP was not significantly associated with gemcitabine clearance, it was significantly associated with clearance of the gemcitabine metabolite dFdU. Pharmacokinetics of dFdU were described by a three-compartment model.; CDA rs1048977 genotype and creatine clearance were significant covariates in the final model to be predict rate of clearance of dFdU, the deaminated metabolite of gemcitabine.","sentence":"Genotype TT is associated with decreased metabolism of gemcitabine as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981747566,"variant_haplotypes":"rs75982813","gene":"NEDD4L","drugs":"hydrochlorothiazide","pmid":23353631,"phenotype_category":"Efficacy","significance":"yes","notes":"If the p for the dominant model (0.0239) is adjusted for 4 SNPs tested, it is 0.092 and the association does not reach significance. Blood pressure reduction for the heterozygote (AG) is less than for either of the homozygotes for both systolic and diastolic blood pressure.","sentence":"Genotypes AG + GG are associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680831,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles given as G and A","sentence":"Genotype CC is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC524175","article_title":"Single nucleotide polymorphisms in the apolipoprotein B and low density lipoprotein receptor genes affect response to antihypertensive treatment","article_path":"articles/PMC524175.md","variant_annotation_id":655387086,"variant_haplotypes":"rs688","gene":"LDLR","drugs":"atenolol","pmid":15453913,"phenotype_category":"Efficacy","significance":"no","notes":"50 mg/day atenolol for twelve weeks. C carriers MAY respond to this. Association was not significant.","sentence":"Genotype CT is associated with response to atenolol in people with Hypertension.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7245057","article_title":"Influences of UGT2B7 rs7439366 and rs12233719 Polymorphisms on Fentanyl Sensitivity in Chinese Gynecologic Patients","article_path":"articles/PMC7245057.md","variant_annotation_id":1451147943,"variant_haplotypes":"rs12233719","gene":"UGT2B7","drugs":"fentanyl","pmid":32401749,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in postoperative fentanyl consumption or VAS scores at 24 hours post-surgery between genotypes. Data was not presented in the paper.","sentence":"Allele T is not associated with response to fentanyl in women with Pain, Postoperative as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC8953705","article_title":"STOP Pain Project\u2014Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways","article_path":"articles/PMC8953705.md","variant_annotation_id":1451732680,"variant_haplotypes":"rs1800797","gene":"IL6","drugs":"opioids","pmid":35335997,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased dose of opioids in children with Neoplasms and Pain as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Neoplasms, Other:Pain","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5342450","article_title":"Pharmacogenomics of platinum-based chemotherapy response in NSCLC: a genotyping study and a pooled analysis","article_path":"articles/PMC5342450.md","variant_annotation_id":1448123619,"variant_haplotypes":"rs1799782","gene":"XRCC1","drugs":"Platinum compounds","pmid":27248474,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AA + AG are associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981747496,"variant_haplotypes":"rs1008899","gene":"NEDD4L","drugs":"hydrochlorothiazide","pmid":23353631,"phenotype_category":"Efficacy","significance":"no","notes":"(trend)","sentence":"Genotypes AA + AG are associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3837290","article_title":"The effect of rifampicin-based antitubercular therapy and cytochrome P450 2B6 genotype on efavirenz mid-dosing interval concentrations in a South African HIV-infected population","article_path":"articles/PMC3837290.md","variant_annotation_id":1448997483,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":19704172,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes GT + TT are associated with increased concentrations of efavirenz as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6092108","article_title":"SLCO1B1 genetic variation and hormone therapy in menopausal women","article_path":"articles/PMC6092108.md","variant_annotation_id":1449311443,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"conjugated estrogens","pmid":29738412,"phenotype_category":"Efficacy","significance":"no","notes":"No association between genotype and change in symptom scores for hot flashes, insomnia or total symptoms following hormonal therapy was observed.","sentence":"Genotype CT is not associated with response to conjugated estrogens in women with Menopause as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Menopause","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238655,"variant_haplotypes":"rs17070785","gene":"CSMD1","drugs":"olanzapine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele A is associated with response to olanzapine in people with Schizophrenia.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3114195","article_title":"IL28B genetic variations are associated with high sustained virological response (SVR) of interferon-\u03b1 plus ribavirin therapy in Taiwanese chronic HCV infection","article_path":"articles/PMC3114195.md","variant_annotation_id":1444705520,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":21346780,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype has decreased association with sustained virological response (SVR).","sentence":"Genotypes GG + GT is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5604731","article_title":"Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients","article_path":"articles/PMC5604731.md","variant_annotation_id":827863280,"variant_haplotypes":"rs1127354","gene":"ITPA","drugs":"methotrexate","pmid":22450926,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6089815","article_title":"Interaction between ABCG2 421C>A polymorphism and valproate in their effects on steady\u2010state disposition of lamotrigine in adults with epilepsy","article_path":"articles/PMC6089815.md","variant_annotation_id":1449560363,"variant_haplotypes":"rs6755571","gene":"UGT1A4","drugs":"lamotrigine","pmid":29791014,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with concentrations of lamotrigine in people with Epilepsy as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5763654","article_title":"Monitoring of peripheral blood cluster of differentiation 4+ adenosine triphosphate activity and CYP3A5 genotype to determine the pharmacokinetics, clinical effects and complications of tacrolimus in patients with autoimmune diseases","article_path":"articles/PMC5763654.md","variant_annotation_id":1449172236,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":29375701,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in dose was found between the genotypes.","sentence":"CYP3A5 *1/*1 + *1/*3 is not associated with dose of tacrolimus in people with Autoimmune Diseases as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Autoimmune Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC5309133","article_title":"A Genome-wide Approach Validates that Thiopurine Methyltransferase Activity is a Monogenic Pharmacogenomic Trait","article_path":"articles/PMC5309133.md","variant_annotation_id":1448268979,"variant_haplotypes":"rs1142345","gene":"TPMT","drugs":"mercaptopurine","pmid":27564568,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele C is associated with exposure to mercaptopurine in children with Leukemia as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5590735","article_title":"Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin","article_path":"articles/PMC5590735.md","variant_annotation_id":1448994422,"variant_haplotypes":"rs35303484","gene":"CYP2B6","drugs":"efavirenz","pmid":28886044,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Allele also known as CYP2B6*11.","sentence":"Genotype GG is associated with increased concentrations of efavirenz in children with HIV Infections.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491254,"variant_haplotypes":"rs2358531","gene":"SV2C","drugs":"risperidone","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score. In significant LD (r2 > 0.95) with rs10514062 and rs7732173.","sentence":"Genotype GG is not associated with response to risperidone in people with Schizophrenia as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":699639165,"variant_haplotypes":"rs2267715","gene":"CRHR2","drugs":"salbutamol","pmid":18408560,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with decreased response to salbutamol in people with Asthma as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874860,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"clozapine, n-desmethylclozapine","pmid":40048458,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"CYP2C19 phenotypes were significantly associated with the metabolic ratio (p\u2009=\u20090.033, Kruskal\u2013Wallis test) at visit 2, with a higher metabolic ratio in PMs (n\u2009=\u20096) than that in NMs and IMs (n\u2009=\u200938) (p\u2009=\u20090.013, Mann\u2013Whitney U test) (S2 Fig).\" \"CYP2C19, 20 patients were NMs (*1/\u2009*\u20091), 19 were intermediate metabolizers (*1/\u2009*\u20092), and six were poor metabolizers (PMs) (*2/\u2009*\u20092). CYP1A2 phenotypes were determined by a combination of two SNPs, namely rs2069514 (c.-3860G\u2009>\u2009A) and rs762551 (c.-9-154C\u2009>\u2009A).\"","sentence":"CYP2C19 *2/*2 (assigned as poor metabolizer phenotype) is associated with increased concentrations of clozapine and n-desmethylclozapine in people with Schizophrenia or Psychotic Disorder as compared to CYP2C19 *1/*1 + *1/*2 (assigned as normal metabolizer and intermediate metabolizer phenotype) .","alleles":"*2/*2","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"*1/*1 + *1/*2","comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} +{"pmcid":"PMC4503103","article_title":"S4646 polymorphism in CYP19A1 gene is associated with the efficacy of hormone therapy in early breast cancer","article_path":"articles/PMC4503103.md","variant_annotation_id":1449154515,"variant_haplotypes":"rs4646","gene":"CYP19A1","drugs":"tamoxifen","pmid":26191232,"phenotype_category":"Efficacy","significance":"yes","notes":"Women were on tamoxifen (n=250) or on unnamed aromatase inhibitors (n=37). Disease free survival was compared at 62.7 weeks and 55.6 weeks follow-up for all women for all women, though different week comparisons were used for each significant association that was found. This association was significant in all women combined and the pre-menopausal subset, but had different directions of association in post- and pre-menopausal women.","sentence":"Genotype AA is associated with decreased response to tamoxifen in women with Breast Neoplasms and Menopause as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6595468","article_title":"Relevance of CYP2B6 and CYP2D6 genotypes to methadone pharmacokinetics and response in the OPAL study","article_path":"articles/PMC6595468.md","variant_annotation_id":1450374150,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"methadone","pmid":30907440,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2704695","article_title":"Influence of the Cytochrome P450 2B6 Genotype on Population Pharmacokinetics of Efavirenz in Human Immunodeficiency Virus Patients","article_path":"articles/PMC2704695.md","variant_annotation_id":1448997496,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":19433561,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":null,"sentence":"Genotypes GT + TT are associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4169706","article_title":"Genome-wide association analysis of anti-TNF drug response in rheumatoid arthritis patients","article_path":"articles/PMC4169706.md","variant_annotation_id":981483816,"variant_haplotypes":"rs1568885","gene":null,"drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":23233654,"phenotype_category":"Efficacy","significance":"no","notes":"This is one of three SNPs that showed directional consistency of association in 4 cohorts studied, along with improved p value in a 3 stage meta-analysis compared to the first GWAS stage. Since this is an AT SNP which is not mapped to a gene, it is difficult to determine which allele was found to be associated with increased response. p did not reach genome-wide significance.","sentence":"Allele A is associated with response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2515139","article_title":"A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose","article_path":"articles/PMC2515139.md","variant_annotation_id":608431827,"variant_haplotypes":"rs10871454","gene":"STX4","drugs":"warfarin","pmid":18535201,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP accounted for ~25% of the variance in stabilized warfarin dose in a GWAS study. It was in perfect linkage disequilibrium (r2=1) with rs9923231 (VKORC1:-1639)","sentence":"Allele T is associated with decreased dose of warfarin.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557938,"variant_haplotypes":"rs2295553","gene":"DDRGK1","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":"The allele was initially significant did not remain significant after multiple-testing corrections.","sentence":"Allele C is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC8530979","article_title":"Pharmacogenetic Predictors of Cannabidiol Response and Tolerability in Treatment\u2010Resistant Epilepsy","article_path":"articles/PMC8530979.md","variant_annotation_id":1451553125,"variant_haplotypes":"rs12539","gene":"AOC1","drugs":"cannabidiol","pmid":34464454,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes CT + TT are associated with increased response to cannabidiol in people with Epilepsy as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238720,"variant_haplotypes":"rs2116971","gene":"CDH13","drugs":"perphenazine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. Please note: the allele was reported as C (though this gene is found on the plus chromosomal strand). It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele G is associated with response to perphenazine in people with Schizophrenia.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC9875006","article_title":"Effect of GATA3 rs3824662 gene polymorphism in Han Chinese children with pre-B-cell acute lymphoblastic leukemia with 10 years follow-up","article_path":"articles/PMC9875006.md","variant_annotation_id":1452000823,"variant_haplotypes":"rs3824662","gene":"GATA3","drugs":"prednisolone","pmid":36714653,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotype AA is associated with decreased clinical benefit to prednisolone in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes AC + CC.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4972156","article_title":"Pharmacokinetics of lamotrigine and its metabolite N\u20102\u2010glucuronide: Influence of polymorphism of UDP\u2010glucuronosyltransferases and drug transporters","article_path":"articles/PMC4972156.md","variant_annotation_id":1447983631,"variant_haplotypes":"rs28365063","gene":"UGT2B7","drugs":"lamotrigine","pmid":27096250,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study was conducted in 100 patients -- 54 receiving monotherapy for lamotrigine, and 46 receiving combination therapy with carbamazepine, oxcarbazepine, valproic acid, phenytoin, phenobarbital, levetiracetam, topiramate, lacosamide, zonisamide, pregabalin, clonazepam, or clobazam. All patients were on stable therapy for at least 2 months.","sentence":"Genotype GG is associated with increased clearance of lamotrigine in people with Epilepsy as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC7214659","article_title":"Impact of SLCO1B1 Genetic Variation on Rosuvastatin Systemic Exposure in Pediatric Hypercholesterolemia","article_path":"articles/PMC7214659.md","variant_annotation_id":1451358200,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"rosuvastatin","pmid":31981411,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes CC + CT are associated with increased concentrations of rosuvastatin in children with Hypercholesterolemia as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121060,"variant_haplotypes":"rs6848893","gene":null,"drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the CT genotype had a decreased subjective 'High Quality' response to oxycodone than subjects with the TT genotype. Authors note that this was an interaction with rs581111.","sentence":"Genotype CT is associated with decreased response to oxycodone as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672980,"variant_haplotypes":"rs374515279","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele T is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2810802","article_title":"Pharmacokinetics, metabolism and bioavailability of the triazole antifungal agent voriconazole in relation to CYP2C19 genotype","article_path":"articles/PMC2810802.md","variant_annotation_id":1444842443,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"voriconazole","pmid":20002085,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Subjects with the *1/*1 genotype had significantly decreased area under the concentration-time curve (AUC) and mean residence time (MRT) and significantly increased clearance of voriconazole as compared to those with the *1/*2 or *2/*2 genotype. No significant differences between genotypes were seen when considering maximum plasma concentration (Cmax), time to Cmax (Tmax), terminal elimination half-life (t1/2) or bioavailability.","sentence":"CYP2C19 *1/*1 (assigned as poor metabolizer phenotype) is associated with increased metabolism of voriconazole in healthy individuals as compared to CYP2C19 *1/*2 + *2/*2.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *2/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC8673616","article_title":"Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences","article_path":"articles/PMC8673616.md","variant_annotation_id":1451679040,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"methadone","pmid":34910759,"phenotype_category":"Efficacy","significance":"no","notes":"The T allele was associated with reduced odds of continued opioid use in male patients undergoing MMT. However, this was not significant. No association was found in female patients.","sentence":"Allele T is associated with increased response to methadone in men with Opioid-Related Disorders as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6014560","article_title":"Genetic Variants in CPA6 and PRPF31 Are Associated With Variation in Response to Metformin in Individuals With Type 2 Diabetes","article_path":"articles/PMC6014560.md","variant_annotation_id":1449295782,"variant_haplotypes":"rs57081354","gene":"NBEA","drugs":"metformin","pmid":29650774,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP is associated with changes in HbA1C when all races are combined.","sentence":"Allele C is associated with decreased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC1995596","article_title":"Exploring joint effects of genes and the clinical efficacy of morphine for cancer pain: OPRM1 and COMT gene","article_path":"articles/PMC1995596.md","variant_annotation_id":731462495,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"morphine","pmid":17156920,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AG + GG are associated with increased dose of morphine as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6375065","article_title":"An expanded pharmacogenomics warfarin dosing table with utility in generalised dosing guidance","article_path":"articles/PMC6375065.md","variant_annotation_id":1448109688,"variant_haplotypes":"rs9332131","gene":"CYP2C9","drugs":"warfarin","pmid":27121899,"phenotype_category":"Dosage","significance":"not stated","notes":"This variant annotation is part of a dosing algorithm table based on 8 genetic variants.","sentence":"Allele A is associated with dose of warfarin as compared to allele del.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} +{"pmcid":"PMC8578201","article_title":"Genetic association of primary non-response to Anti-TNF\u03b1 therapy in patients with Inflammatory Bowel Disease","article_path":"articles/PMC8578201.md","variant_annotation_id":1451934829,"variant_haplotypes":"rs34767465","gene":null,"drugs":"adalimumab, certolizumab pegol, infliximab","pmid":34380996,"phenotype_category":"Efficacy","significance":"no","notes":"rs34767465 associated with primary nonresponse to anti-TNF\u03b1 biologics. odds ratio: 2.07, 95% CI: 1.46\u20132.94, P = 2.43 \u00d7 10-7 , replication odds ratio: 1.8,95% CI, 1.04\u20133.16, P = 0.03","sentence":"Allele T is not associated with response to adalimumab, certolizumab pegol or infliximab in people with Inflammatory Bowel Diseases as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Inflammatory Bowel Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5483245","article_title":"Independent and interactive effects of OPRM1 and DAT1 polymorphisms on alcohol consumption and subjective responses in social drinkers","article_path":"articles/PMC5483245.md","variant_annotation_id":1450826517,"variant_haplotypes":"rs28363170","gene":"SLC6A3","drugs":"ethanol","pmid":28376280,"phenotype_category":"Other","significance":"yes","notes":"This variant is a VNTR; the 'del' allele represented the 9-repeat allele, while the 'GGG...' allele represents the 10-repeat allele. Subjects with the 9-repeat allele had higher Subjective High Assessment Scale (SHAS) scores and higher Drug Effect Questionnaire Visual Analog Scale (DEQ VAS) negative scores across all timepoints compared to subjects carrying the 10-repeat allele. The authors note an epistatic effect, where carriers of both of the 9-repeat allele and the rs1799971 G allele in OPRM1 had the highest SHAS and DEQ VAS negative scores. However, there was no significant association between this variant and BAES score, DEQ VAS positive score or POMS score.","sentence":"Allele del is associated with increased response to ethanol in healthy individuals as compared to allele GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT","comparison_metabolizer_types":null} +{"pmcid":"PMC3553682","article_title":"Impact of Pharmacogenetic Markers of CYP2B6, Clinical Factors, and Drug-Drug Interaction on Efavirenz Concentrations in HIV/Tuberculosis-Coinfected Patients","article_path":"articles/PMC3553682.md","variant_annotation_id":1183491434,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"efavirenz","pmid":23254426,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As shown by increased plasma concentrations (units = mg/L) for those with the GG genotype compared to those with the AG genotype. Fasting plasma efavirenz concentrations were measured 12 hours after the last dose, and after 12 weeks of treatment.","sentence":"Genotype GG is associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} +{"pmcid":"PMC9914414","article_title":"Association between ADAM33 Single-Nucleotide Polymorphisms and Treatment Response to Inhaled Corticosteroids and a Long-Acting Beta-Agonist in Asthma","article_path":"articles/PMC9914414.md","variant_annotation_id":1452015972,"variant_haplotypes":"rs3918396","gene":"ADAM33","drugs":"corticosteroids, selective beta-2-adrenoreceptor agonists","pmid":36766510,"phenotype_category":"Efficacy","significance":"no","notes":"as measured by FEV1 after three months of ICS+LABA. Alleles complemented to the plus chromosomal strand. \"The SNP rs3918396 (AA genotype) also showed a lower improvement in FVC, but this was not statistically significant due to the fewer patients with that polymorphism.\"","sentence":"Genotype TT is associated with decreased clinical benefit to corticosteroids and selective beta-2-adrenoreceptor agonists in people with Asthma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC1885108","article_title":"Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes","article_path":"articles/PMC1885108.md","variant_annotation_id":982043213,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"pravastatin","pmid":16722833,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association was found between changes in cholesterol levels or triglycerides and this SNP.","sentence":"Allele C is not associated with response to pravastatin in children with Hyperlipoproteinemia Type II as compared to allele A.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Hyperlipoproteinemia Type II","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4387236","article_title":"Genome-wide Association Study of Virologic Response with Efavirenz- or Abacavir-containing Regimens in AIDS Clinical Trials Group Protocols","article_path":"articles/PMC4387236.md","variant_annotation_id":1296598716,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"efavirenz","pmid":25461247,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association with virologic failure is found for the combinations of CYP2B6 polymorphisms (rs3745274, rs28399499, and rs4803419).","sentence":"Allele C is not associated with response to efavirenz in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6923423","article_title":"Influence of OATP1B1 and BCRP polymorphisms on the pharmacokinetics and pharmacodynamics of rosuvastatin in elderly and young Korean subjects","article_path":"articles/PMC6923423.md","variant_annotation_id":1451164800,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"rosuvastatin","pmid":31857620,"phenotype_category":"Efficacy","significance":"no","notes":"ABCG2 421C>A did not significantly affect the lipid-lowering response of rosuvastatin.","sentence":"Genotypes GT + TT are not associated with response to rosuvastatin as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10909096","article_title":"Association of Cytidine Deaminase Polymorphism with Capecitabine Effectiveness in Breast Cancer Patients","article_path":"articles/PMC10909096.md","variant_annotation_id":1452346561,"variant_haplotypes":"rs532545","gene":"CDA","drugs":"capecitabine","pmid":38156857,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by estradiol E2 levels, however table 4 and text are contradictory. Alleles complemented. \"Concerning rs532545, the mutant (GG) has an; elevated estradiol level (mean +/- SD) of (37.98 \u00b1 3), the; heterozygous (AG) has a value of (33.08 \u00b1 3.72), and; the wild type (AA) has a value of (74.43 \u00b1 14.86), with significant differences between the heterozygous and; mutant and homozygous genotypes.\"","sentence":"Genotype CC is associated with decreased response to capecitabine in women with Breast Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC11271148","article_title":"The Influence of CYP2B6 Variants and Administration of Propofol on Patient Outcomes after Traumatic Brain Injury","article_path":"articles/PMC11271148.md","variant_annotation_id":1452554225,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"propofol","pmid":39071983,"phenotype_category":"Toxicity","significance":"yes","notes":"\"No significant interaction between genotype and propofol on patient outcomes after sTBI was found; however, when controlling for propofol, *6 homozygotes had worse outcomes at 3-month GOS. \" GOS = Glasgow Outcome Scale, 1 = death, 2 = persistent vegetative state, 3 = severe disability, 4 = moderate disability, and 5 = good recovery","sentence":"CYP2B6 *6 is associated with decreased response to propofol in people with Brain Injuries as compared to CYP2B6 *1.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Brain Injury","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896245,"variant_haplotypes":"rs7051085","gene":"PTCHD1","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele T is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4078496","article_title":"CYP4F2 1347 G>A & GGCX 12970 C>G polymorphisms: frequency in north Indians & their effect on dosing of acenocoumarol oral anticoagulant","article_path":"articles/PMC4078496.md","variant_annotation_id":1444708155,"variant_haplotypes":"rs11676382","gene":"GGCX","drugs":"acenocoumarol","pmid":24927344,"phenotype_category":"Dosage","significance":"no","notes":"No significant differences in mean weight normalized acenocoumarol doses were found for these GGCX genotypes.","sentence":"Genotype CG is not associated with dose of acenocoumarol as compared to genotype CC.","alleles":"CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC11720188","article_title":"Effect of Genetic Variants on Rosuvastatin Pharmacokinetics in Healthy Volunteers: Involvement of ABCG2, SLCO1B1 and NAT2","article_path":"articles/PMC11720188.md","variant_annotation_id":1452808361,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"rosuvastatin","pmid":39796117,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"A significant increase in AUC\u221e/DW (p = 0.004; pmv = 0.001, \u03b2 = 0.398, R2 = 0.264), AUC72h/DW (p < 0.001; pmv = 0.001, \u03b2 = 0.427, R2 = 0.302) and Cmax/DW (p < 0.001; pmv < 0.001, \u03b2 = 0.507, R2 = 0.292) was observed in subjects who were intermediate acetylators (IA) for NAT2, and these parameters were even higher in those who were poor acetylators (PA) compared to rapid acetylators (RA) (Table 3).\" Authors reference CPIc and Dutch guidelines but do not specify which variants were measured.","sentence":"NAT2 slow acetylator and intermediate acetylator is associated with increased dose-adjusted trough concentrations of rosuvastatin in healthy individuals as compared to NAT2 rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator and intermediate acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"rapid acetylator"} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896239,"variant_haplotypes":"rs291028","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele T is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2830602","article_title":"The impact of SLCO1B1 polymorphisms on the plasma concentration of lopinavir and ritonavir in HIV-infected men","article_path":"articles/PMC2830602.md","variant_annotation_id":1451114666,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"lopinavir, ritonavir","pmid":20078617,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association between this variant and trough concentrations of lopinavir or ritonavir in HIV patients treated with lopinavir/ritonavir. Variant referred to in the paper as 388A>G.","sentence":"Allele G is not associated with trough concentration of lopinavir or ritonavir in men with HIV Infections as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":"or","population_types":"in men with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271184,"variant_haplotypes":"CYP1A2 ultrarapid metabolizer","gene":"CYP1A2","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"no","notes":"Response defined by changes in the rate of dropout from treatment between metabolizer phenotypes. Study genotyped for the CYP1A2 variants -3860G>A (rs2069514), -2467T>delT (rs35694136), -739T>G (rs2069526), -729C>T (rs12720461), -163C>A (rs762551), 125C>G (rs72547511), 558C>A (rs72547513), 2116G>A (rs56276455), 2473G>A (rs72547515), 2499A>T (rs72547516), 3497G>A (assumed that this corresponds to rs55889066), 3533G>A (rs56107638), 5090C>T (rs28399424), 5166G>A (rs72547517) and 5347C>T (rs2470890) and then assigned metabolizer phenotypes.","sentence":"CYP1A2 ultrarapid metabolizer is not associated with response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to CYP1A2 intermediate metabolizer and normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} +{"pmcid":"PMC5249113","article_title":"Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis","article_path":"articles/PMC5249113.md","variant_annotation_id":1448995913,"variant_haplotypes":"rs7574865","gene":"STAT4","drugs":"etanercept","pmid":28107378,"phenotype_category":"Efficacy","significance":"yes","notes":"The degree of response was determined by EULAR score.; A significant association between rs7574865 and response to etanercept was seen at two years after beginning treatment. No significant association was seen at six months after beginning treatment.; No significant associations were seen at either time point when response was measured as number of patients in remission or with low disease activity.","sentence":"Allele T is associated with decreased response to etanercept in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3637851","article_title":"A phase I/II pharmacokinetic and pharmacogenomic study of calcitriol in combination with cisplatin and docetaxel in advanced non-small-cell lung cancer","article_path":"articles/PMC3637851.md","variant_annotation_id":1043858711,"variant_haplotypes":"rs2762939","gene":"CYP24A1","drugs":"calcitriol, cisplatin, docetaxel","pmid":23435876,"phenotype_category":"Efficacy","significance":"no","notes":"No association was seen with overall survival or progression-free survival.","sentence":"Allele G is not associated with response to calcitriol, cisplatin and docetaxel in people with Carcinoma, Non-Small-Cell Lung as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038068,"variant_haplotypes":"rs2542052","gene":"APOC3","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.","sentence":"Genotypes AA + AC are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161660,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"methadone","pmid":21589866,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in concentrations of (R)-, (S)- and (R,S)-methadone between genotypes. No details about which specific variants/alleles were tested for.","sentence":"CYP3A5 *3/*3 is not associated with concentrations of methadone in people with Opioid-Related Disorders as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC5901893","article_title":"Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC5901893.md","variant_annotation_id":1450930491,"variant_haplotypes":"rs7606603","gene":"XIRP2","drugs":"atenolol","pmid":29650764,"phenotype_category":"Efficacy","significance":"yes","notes":"The C allele was associated with a reduced systolic blood pressure response to atenolol.","sentence":"Allele C is associated with decreased response to atenolol in people with Hypertension as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC8505452","article_title":"Genetic contributions to alcohol use disorder treatment outcomes: a genome-wide pharmacogenomics study","article_path":"articles/PMC8505452.md","variant_annotation_id":1451640186,"variant_haplotypes":"rs77583603","gene":null,"drugs":"acamprosate","pmid":34302059,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele was associated with an increased risk of relapse to drinking in patients undergoing acamprosate treatment.","sentence":"Allele G is associated with decreased response to acamprosate in people with Alcoholism as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2766479","article_title":"Influence of ABCB1 gene polymorphisms on the pharmacokinetics of verapamil among healthy Chinese Han ethnic subjects","article_path":"articles/PMC2766479.md","variant_annotation_id":982035840,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"verapamil","pmid":19740397,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the GG genotype had lower oral clearance and higher AUC than patients with the AA or AG genotype. This SNP was studied together with rs2032582. Subjects were non-randomly chosen in order to study patients homozygous for the wildtype at both SNPs, heterozygous for both SNPs, and homozygous for the variant at both SNPs.","sentence":"Genotype GG is associated with decreased metabolism of verapamil in healthy individuals as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3553682","article_title":"Impact of Pharmacogenetic Markers of CYP2B6, Clinical Factors, and Drug-Drug Interaction on Efavirenz Concentrations in HIV/Tuberculosis-Coinfected Patients","article_path":"articles/PMC3553682.md","variant_annotation_id":1183491417,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":23254426,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As shown by increased plasma concentrations (units = mg/L) for those with the TT genotype compared to those with the GT genotype. Fasting plasma efavirenz concentrations were measured 12 hours after the last dose, and after 12 weeks of treatment.","sentence":"Genotype TT is associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT","comparison_metabolizer_types":null} +{"pmcid":"PMC4692529","article_title":"A Randomized Trial of Pharmacogenetic Warfarin Dosing in Na\u00efve Patients with Non-Valvular Atrial Fibrillation","article_path":"articles/PMC4692529.md","variant_annotation_id":1448276515,"variant_haplotypes":"CYP4F2*3","gene":"CYP4F2","drugs":"warfarin","pmid":26710337,"phenotype_category":"Dosage","significance":"not stated","notes":"This study assessed whether a pharmacogenetic algorithm, which included this variant as well as the VKORC1 rs9923231, CYP2C9*2 and CYP2C9*3 variants, is superior in overall anticoagulation control when compared to clinical standard of care.","sentence":"CYP4F2 *3 is associated with dose of warfarin.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3553682","article_title":"Impact of Pharmacogenetic Markers of CYP2B6, Clinical Factors, and Drug-Drug Interaction on Efavirenz Concentrations in HIV/Tuberculosis-Coinfected Patients","article_path":"articles/PMC3553682.md","variant_annotation_id":1183491430,"variant_haplotypes":"rs8192709","gene":"CYP2B6","drugs":"efavirenz","pmid":23254426,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in plasma concentrations of efavirenz (units = mg/L) were seen between the three genotypes. Fasting plasma efavirenz concentrations were measured 12 hours after the last dose, and after 12 weeks of treatment. p-value from univariate analysis with plasma concentration as the dependent variable.","sentence":"Genotype CC is not associated with clearance of efavirenz in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729164,"variant_haplotypes":"rs434606","gene":"CYP2B6","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes AA + AG is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5355968","article_title":"A Study on CYP2C19 and CYP2D6 Polymorphic Effects on Pharmacokinetics and Pharmacodynamics of Amitriptyline in Healthy Koreans","article_path":"articles/PMC5355968.md","variant_annotation_id":1448615861,"variant_haplotypes":"CYP2D6*1, CYP2D6*10","gene":"CYP2D6","drugs":"hydroxyamitriptyline","pmid":28296334,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as measured by ratio of amitriptyline to hydroxyamitriptyline. Also ratio of nortriptyline to hydroxynortriptyline was significantly lower for *10/*10 compared to *1/*1 or *1/*10.","sentence":"CYP2D6 *10/*10 is associated with decreased concentrations of hydroxyamitriptyline in healthy individuals as compared to CYP2D6 *1/*1 + *1/*10.","alleles":"*10/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*10","comparison_metabolizer_types":null} +{"pmcid":"PMC4706412","article_title":"A Novel Admixture-Based Pharmacogenetic Approach to Refine Warfarin Dosing in Caribbean Hispanics","article_path":"articles/PMC4706412.md","variant_annotation_id":1447682722,"variant_haplotypes":"rs1800566","gene":"NQO1","drugs":"warfarin","pmid":26745506,"phenotype_category":"Dosage","significance":"yes","notes":"The authors aimed to develop an admixture-adjusted (genetic ancestry) PGx dosing algorithm for warfarin in Caribbean Hispanics from Puerto Rico. [Algorithm R sq.=0.70, MAE = 0.72 mg/day]. When externally validated with 55 individuals from an independent cohort the novel algorithm predicted 58% of the warfarin dose variance [MAE = 0.89 mg/day, 24% mean bias]. Please note: 1) the derivation cohort was 99% male 2) alleles have been complemented to the + chromosomal strand and 3) \"variables were included in final lin. reg model if p<0.05 or if association with daily warfarin dose was marginally significant 0.05 = p = 0.20 with strong biological plausability\".","sentence":"Genotypes AA + AG are associated with increased dose of warfarin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6773496","article_title":"\u03b22-Adrenergic Receptor Gene Affects the Heart Rate Response of \u03b2-Blockers: Evidence From 3 Clinical Studies","article_path":"articles/PMC6773496.md","variant_annotation_id":1451107121,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"atenolol, metoprolol","pmid":31090079,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and response to atenolol or metoprolol, as measured by changes in heart rate, in black or Hispanic patients.","sentence":"Allele A is not associated with response to atenolol or metoprolol in people with Tachycardia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tachycardia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4297489","article_title":"Association of CD58 Polymorphism with Multiple Sclerosis and Response to Interferon \u00df Therapy in A Subset of Iranian Population","article_path":"articles/PMC4297489.md","variant_annotation_id":1444936314,"variant_haplotypes":"rs12044852","gene":"CD58","drugs":"interferon beta-1a, interferon beta-1b","pmid":25685741,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with relapsing remitting multiple sclerosis. Patients with the CC genotype had a higher increase in mean multiple sclerosis severity score over two years of follow-up, as compared to those with the AA or AC genotype. This SNP was also significantly associated with the occurrence of multiple sclerosis.","sentence":"Genotype CC is associated with decreased response to interferon beta-1a and interferon beta-1b in people with Multiple Sclerosis as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Multiple Sclerosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC6086578","article_title":"PHARMACOGENETIC EFFECTS OF NALTREXONE IN INDIVIDUALS OF EAST ASIAN DESCENT: HUMAN LABORATORY FINDINGS FROM A RANDOMIZED TRIAL","article_path":"articles/PMC6086578.md","variant_annotation_id":1450928668,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"naltrexone","pmid":29265379,"phenotype_category":"Efficacy","significance":"no","notes":"No significant medication x genotype interactions on alcohol craving, subjective response to alcohol or alcohol self-administration.","sentence":"Allele G is not associated with response to naltrexone as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4195667","article_title":"Personalized Tacrolimus Dose Requirement by CYP3A5 but Not ABCB1 or ACE Genotyping in Both Recipient and Donor after Pediatric Liver Transplantation","article_path":"articles/PMC4195667.md","variant_annotation_id":1185012354,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"tacrolimus","pmid":25310192,"phenotype_category":"Dosage","significance":"no","notes":"All liver transplant recipients were given tacrolimus 2-3 days post liver transplantation. Weight adjusted dose and concentration to dose ratio (C/D) were the primary outcomes. Dose and C/D were calculated based on measurements taken on day 3, 7 and 14 post-transplantation as well as the the 1st, 3rd, 6th and 12th month post-transplantation. ABCB1 genotype was not significantly associated with C/D of tacrolimus at any time point.","sentence":"Genotype TT is not associated with concentrations of tacrolimus in children with liver transplantation.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4503705","article_title":"IL28B genotype predicts response to chronic hepatitis C triple therapy with telaprevir or boceprevir in treatment na\u00efve and treatment-experienced patients other than prior partial- and null-responders","article_path":"articles/PMC4503705.md","variant_annotation_id":1447676829,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":26191484,"phenotype_category":"Efficacy","significance":"yes","notes":"in both na\u00efve patients and treatment-experienced patients. rs12979860-CC was a stronger predictor of SVR12 than rs8099917-TT.","sentence":"Genotype CC is associated with increased response to boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2760462","article_title":"Atazanavir pharmacokinetics in genetically determined CYP3A5 expressors versus non-expressors","article_path":"articles/PMC2760462.md","variant_annotation_id":1450984482,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"atazanavir","pmid":19710077,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"For the haplotype \"1236C/2677G/3435C\" \"subjects with zero CGC copies had faster atazanavir CL/F and lower Cmin compared with individuals with one or two CGC copies\"(complemented to plus chromosomal strand). In this two-phase study, healthy participants were given atazanavir only for 7 days and then were co-administered ritonavir as a booster for days 8-14. The results here are for day 1-7 (atazanavir alone). By the end of day 7 oral clearance of atazanavir was 0.25, 0.18, 0.17 L/h/kg in people with 0, 1 or 2 copies of the haplotype, respectively. Cmin was 66, 159 and 209 ng/mL in people with 0,1 or 2 copies, respectively.","sentence":"Genotype AA is associated with increased clearance of atazanavir in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5684285","article_title":"Influence of genetic co-factors on the population pharmacokinetic model for clopidogrel and its active thiol metabolite","article_path":"articles/PMC5684285.md","variant_annotation_id":1449002176,"variant_haplotypes":"rs12248560","gene":"CYP2C19","drugs":"clopidogrel, clopidogrel thiol metabolite H4","pmid":28914344,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Full pharmacokinetic profile was obtained from 17 subjects at 0.5, 1, 2, 3, and 4 h post clopidogrel dose. From 46 subjects samples were collected at 0.5 and 2 h or 1 and 3 h post-dose. Subjects were receiving PCI or elective coronarography.","sentence":"Allele T is not associated with exposure to clopidogrel or clopidogrel thiol metabolite H4 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10970167","article_title":"PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis","article_path":"articles/PMC10970167.md","variant_annotation_id":1452433770,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"apremilast","pmid":38540428,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Allele-based association tests detected 64 SNPs displaying nominal p values < 0.05 (Table 2) including 10 SNPs with p values \u2264 0.01. \" Table 2 shows frequency of minor allele is responders and non-responders. Responder status maybe defined by PASI score improvement greater than 75% after 24\u201336 weeks of treatment.","sentence":"Allele A is associated with increased clinical benefit to apremilast in people with Psoriasis as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4595504","article_title":"ITPA Polymorphisms Are Associated with Hematological Side Effects during Antiviral Therapy for Chronic HCV Infection","article_path":"articles/PMC4595504.md","variant_annotation_id":1446905573,"variant_haplotypes":"rs1127354","gene":"ITPA","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":26441325,"phenotype_category":"Efficacy","significance":"no","notes":"The authors actually compared platelet counts between patients with normal or deficient ITPase activity. Patients with the composite genotypes of rs1127354 CC and rs7270101 AA had \"normal ITPase activity\" and all other genotype combinations were classified as \"deficient\". Univariable logistic regression normal ITPase activity was not significantly associated with virological relapse.","sentence":"Genotype CC is not associated with response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC11608742","article_title":"Effects of genetic variants of organic cation transporters on metformin response in newly diagnosed patients with type 2 diabetes","article_path":"articles/PMC11608742.md","variant_annotation_id":1452725003,"variant_haplotypes":"rs1800058","gene":"ATM","drugs":"metformin","pmid":39612420,"phenotype_category":"Efficacy","significance":"no","notes":"\"Other SNPs (rs4621031, rs34399035, rs1800058, and rs11212617) had no significant impact on metformin response. \" This was not polymorphic (all CC) in this population","sentence":"Allele T is not associated with decreased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5546927","article_title":"The Effect of Gene Variants on Levonorgestrel Pharmacokinetics when Combined with Antiretroviral Therapy containing Efavirenz or Nevirapine","article_path":"articles/PMC5546927.md","variant_annotation_id":1448684673,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"levonorgestrel","pmid":28187506,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in patients treated with levonorgestrel implant plus efavirenz. The authors hypothesize that the high EFV plasma concentrations associated with these SNPs may result in greater EFV induction of CYP3A4, resulting in increased LNG metabolism and lower LNG exposure in the patients who were heterozygous or homozygous for CYP2B6 516G>T or CYP2B6 15582C>T.","sentence":"Genotypes GT + TT are associated with decreased concentrations of levonorgestrel in women with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1448613398,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with AUC, AUC0-12 when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together. Only P-values for AUC presented here.","sentence":"Allele G is not associated with metabolism of selumetinib in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5866313","article_title":"Genome\u2010Wide Association Approach Identified Novel Genetic Predictors of Heart Rate Response to \u03b2\u2010Blockers","article_path":"articles/PMC5866313.md","variant_annotation_id":1450943622,"variant_haplotypes":"rs2364349","gene":"SNX9","drugs":"atenolol, metoprolol","pmid":29478026,"phenotype_category":"PD","significance":"yes","notes":"as measured by decreased heart rate.","sentence":"Allele A is associated with decreased response to atenolol or metoprolol in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10684410","article_title":"A Phase I, Open-Label, Fixed Sequence Study to Investigate the Effect of Cytochrome P450 2D6 Inhibition on the Pharmacokinetics of Ulotaront in Healthy Subjects","article_path":"articles/PMC10684410.md","variant_annotation_id":1452287642,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"ulotaront","pmid":37882999,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"This genotyping assay solely detects variants; *1(WT),*2, *3, *4, *5, *7, *8, *9, *10, *11, *15, *17, *29,; *35, and *41. Defnitions of normal metabolizer (NM),; intermediate metabolizer, and PM follow Clinical Pharmacogenetics Implementation Consortium\" \"mean; CL/F from PMs was generally lower in comparison with; the mean CL/F from non-PMs \" \"As expected,; CYP2D6 inhibition by paroxetine decreased ulotaront CL/F; to a level approximating ulotaront CL/F in CYP2D6 PMs\" \"Strong CYP2D6 inhibitors are reported; to pheno-covert CYP2D6 NMs into PMs\"","sentence":"CYP2D6 poor metabolizer is associated with decreased clearance of ulotaront in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC7968507","article_title":"ABCB1, CYP2B6, and CYP3A4 Genetic Polymorphisms do not Affect Methadone Maintenance Treatment in HCV-positive Patients","article_path":"articles/PMC7968507.md","variant_annotation_id":1451569101,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"methadone","pmid":33410778,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with metabolism of methadone in men with Heroin Dependence as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5875925","article_title":"Pharmacogenetics of Asthma Controller Treatment","article_path":"articles/PMC5875925.md","variant_annotation_id":1183702665,"variant_haplotypes":"rs8191992","gene":"CHRM2","drugs":"fluticasone/salmeterol","pmid":22370858,"phenotype_category":"Efficacy","significance":"yes","notes":"The \"major\" allele is associated with increased response. It is not clear whether that is A or T on the positive chromosomal strand.","sentence":"Allele A is associated with response to fluticasone/salmeterol in people with Asthma as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003004,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"no","notes":"Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele A is not associated with response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11524821","article_title":"Evaluation of the role of metabolizing enzymes and transporter variants in ezetimibe pharmacokinetics","article_path":"articles/PMC11524821.md","variant_annotation_id":1452829252,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"ezetimibe","pmid":39484171,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"Volunteers with the ABCC2 rs2273697 A/A genotype showed a; trend to higher Cmax/DW compared to the G/A genotype (puv =; 0.087, pmv = 0.048, \u03b2 = 0.267, R2 = 0.067) (Table 4).\"","sentence":"Genotype AA is associated with increased dose-adjusted trough concentrations of ezetimibe in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4672523","article_title":"Contribution of BDNF and DRD2 genetic polymorphisms to continued opioid use in patients receiving methadone treatment for opioid use disorder: an observational study","article_path":"articles/PMC4672523.md","variant_annotation_id":1449164221,"variant_haplotypes":"rs1799978","gene":"DRD2","drugs":"methadone","pmid":26437921,"phenotype_category":"Efficacy","significance":"no","notes":"Response to methadone was measured as the number of urine screens which were positive for opioids during methadone treatment.; No participants were found to have the CC genotype.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3396003","article_title":"The Relationship Between Single Nucleotide Polymorphisms in 5-HT2A Signal Transduction-Related Genes and the Response Efficacy to Selective Serotonin Reuptake Inhibitor Treatments in Chinese Patients with Major Depressive Disorder","article_path":"articles/PMC3396003.md","variant_annotation_id":1452039951,"variant_haplotypes":"rs6311","gene":"HTR2A","drugs":"citalopram, paroxetine, sertraline","pmid":22480177,"phenotype_category":"Efficacy","significance":"no","notes":"Response measure with HAMD.","sentence":"Allele T is not associated with response to citalopram, paroxetine or sertraline in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767367,"variant_haplotypes":"rs2291834","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele T is not associated with trough concentration of vancomycin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501779,"variant_haplotypes":"rs2234922","gene":"EPHX1","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype GG is not associated with clearance of carbamazepine in people with Epilepsy as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4803610","article_title":"Race-specific influence of CYP4F2 on dose and risk of hemorrhage among warfarin users","article_path":"articles/PMC4803610.md","variant_annotation_id":1447952633,"variant_haplotypes":"rs12777823","gene":null,"drugs":"warfarin","pmid":26877068,"phenotype_category":"Dosage","significance":"yes","notes":"in African americans, but not European americans.","sentence":"Genotypes AA + AG are associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4226857","article_title":"Incidence and predictors of regimen-modification from first-line antiretroviral therapy in Thailand: a cohort study","article_path":"articles/PMC4226857.md","variant_annotation_id":1185012177,"variant_haplotypes":"HLA-B*40:01","gene":"HLA-B","drugs":"lamivudine, nevirapine, stavudine","pmid":25361850,"phenotype_category":"Efficacy","significance":"yes","notes":"HLA-B*40:01 was a significant predictor of regimen modification due to treatment failure, with presence of the *40:01 allele leading to a decreased risk of regimen modification due to treatment failure.","sentence":"HLA-B *40:01 is associated with response to lamivudine, nevirapine and stavudine in people with HIV Infections.","alleles":"*40:01","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC9934922","article_title":"Impact of polymorphisms in CYP and UGT enzymes and ABC and SLCO1B1 transporters on the pharmacokinetics and safety of desvenlafaxine","article_path":"articles/PMC9934922.md","variant_annotation_id":1452023760,"variant_haplotypes":"CYP2C19 rapid metabolizer","gene":"CYP2C19","drugs":"desvenlafaxine","pmid":36817149,"phenotype_category":"Metabolism/PK","significance":"no","notes":"as measured by increased Cmax. UM were not grouped with RM and had similar Cmax to NM+IM+PM but there were only 2 individuals. Also genotyping only included rs4244285(*2), rs4986893 (*3) and rs12248560 (*17) and did not rule out *4 which is in linkage with *17 in some populations. \"However, none of these associations; remained significant after Bonferroni correction for multiple; comparisons. \"","sentence":"CYP2C19 rapid metabolizer is associated with decreased concentrations of desvenlafaxine in healthy individuals as compared to CYP2C19 normal metabolizer and intermediate metabolizer and poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"rapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer and poor metabolizer"} +{"pmcid":"PMC4892378","article_title":"IL28B gene polymorphisms and viral kinetics in HIV/hepatitis C virus-coinfected patients treated with pegylated interferon and ribavirin","article_path":"articles/PMC4892378.md","variant_annotation_id":981478976,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":21505315,"phenotype_category":"Efficacy","significance":"yes","notes":"These patients were also HIV infected. Treatment was with ribavirin plus peginterferon alfa- 2a or -2b. The increased response was significant for Hepatitis C types 1 and 4 (pooled after no significant differences were found between the two) and was marginal for types 2 and 3. The effect was mainly due to increased viral clearance during the first 12 weeks of treatment. 86 CC; 110 CT or TT.","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038075,"variant_haplotypes":"rs2854117","gene":"APOC3","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC11160041","article_title":"CBR1 and CBR3 pharmacogenetics and their influence on doxorubicin disposition in Asian breast cancer patients","article_path":"articles/PMC11160041.md","variant_annotation_id":1448105647,"variant_haplotypes":"rs20572","gene":"CBR1","drugs":"doxorubicin","pmid":19016765,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype CC is associated with increased clearance of doxorubicin in people with Breast Neoplasms as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3098751","article_title":"Extending and evaluating a warfarin dosing algorithm that includes CYP4F2 and pooled rare variants of CYP2C9","article_path":"articles/PMC3098751.md","variant_annotation_id":769246303,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":20442691,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype CC is associated with decreased dose of warfarin as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678328,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"no","notes":"In none of the measures that the authors used to measure exposure showed any association with the genotype. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AG is not associated with metabolism of carbamazepine in people with Epilepsy as compared to genotypes AA + GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3567337","article_title":"Genome-wide study of methotrexate clearance replicates SLCO1B1","article_path":"articles/PMC3567337.md","variant_annotation_id":981483656,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"methotrexate","pmid":23233662,"phenotype_category":"Efficacy, Toxicity, Metabolism/PK","significance":"yes","notes":"Average clearance was about 13% lower in CC than in TT patients.","sentence":"Allele C is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4154311","article_title":"A randomized placebo-controlled trial of ataluren for the treatment of nonsense mutation cystic fibrosis","article_path":"articles/PMC4154311.md","variant_annotation_id":1447952362,"variant_haplotypes":"rs77010898","gene":"CFTR","drugs":"ataluren","pmid":24836205,"phenotype_category":"Efficacy","significance":"no","notes":"Outcomes assessed for all nonsense mutations together (W1282X, G542X, R1162X, and R553X). Case-control study with placebo. Endpoint measured was change in Forced Expiratory Volume in 1 second. A difference was seen in the subset of patients on tobramycin.","sentence":"Allele A is not associated with response to ataluren in people with Cystic Fibrosis as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003343,"variant_haplotypes":"rs10841753","gene":"SLCO1B1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"There is an association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: CT+TT (0.47 (0.09\u201341.63)) vs. CC 0.32 (0.14\u20135.50)).","sentence":"Genotypes CT + TT are associated with decreased concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC10483403","article_title":"Genetic polymorphisms are associated with individual susceptibility to dexmedetomidine","article_path":"articles/PMC10483403.md","variant_annotation_id":1452241167,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"dexmedetomidine","pmid":37693312,"phenotype_category":"Dosage","significance":"yes","notes":"\"In this research, homozygous carriers of the major allele (GG) required less DXM than carriers of the minor allele (GC/CC) (35.49 \u00b1 7.46 vs. 40.08 \u00b1 12.99, p = 0.038). Thus, homozygosity for the major allele G) of ADRA2A rs1800544 may be involved in a higher sensitivity to DXM.\"","sentence":"Genotype GG is associated with decreased dose of dexmedetomidine in people with surgery as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:surgery","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} +{"pmcid":"PMC9657232","article_title":"Th2 Cytokines (Interleukin-5 and -9) Polymorphism Affects the Response to Anti-TNF Treatment in Polish Patients with Ankylosing Spondylitis","article_path":"articles/PMC9657232.md","variant_annotation_id":1451939680,"variant_haplotypes":"rs2069812","gene":"IL5","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":36361964,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by reduction in Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) after 12 weeks treatment. Also as measured by reductions in CRP and VAS scores.","sentence":"Genotypes AA + AG is associated with increased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Spondylitis, Ankylosing as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Spondylitis, Ankylosing","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5904201","article_title":"Influence of APOA5 Locus on the Treatment Efficacy of Three Statins: Evidence From a Randomized Pilot Study in Chinese Subjects","article_path":"articles/PMC5904201.md","variant_annotation_id":1449311019,"variant_haplotypes":"rs662799","gene":"APOA5","drugs":"atorvastatin","pmid":29695967,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects were randomized to receive one of three dose-adjusted statins (N = 65 rosuvastatin, N= 65 atorvastatin, N= 65 simvastatin) and cholesterol (HDL, LDL), triglycerides and free-fatty acids (FFA) were compared between groups before and after statin treatment. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AA is associated with increased response to atorvastatin in people with Dyslipidaemia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Dyslipidaemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC7115450","article_title":"Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial","article_path":"articles/PMC7115450.md","variant_annotation_id":1451148561,"variant_haplotypes":"rs6265","gene":"BDNF","drugs":"escitalopram","pmid":31721892,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to escitalopram in people with Depression as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407844,"variant_haplotypes":"rs6269","gene":"COMT","drugs":"butorphanol","pmid":31806881,"phenotype_category":"Efficacy","significance":"yes","notes":"Significant difference in pressure pain at the ulna between genotype groups, but this association was not seen in other pain modalities. Study-wide significance was set to p<0.017.","sentence":"Genotype GG is associated with decreased response to butorphanol in healthy individuals as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3137420","article_title":"A genotype-directed phase I\u2013IV dose-finding study of irinotecan in combination with fluorouracil/leucovorin as first-line treatment in advanced colorectal cancer","article_path":"articles/PMC3137420.md","variant_annotation_id":1448261782,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan","pmid":21654688,"phenotype_category":"Dosage","significance":"not stated","notes":"This study provided maximum tolerated doses of irinotecan for the *1/*1, *1/*28 and *28/*28 genotypes. The maximum tolerated doses for *1/*1 and *1/*28 were found to be considerably higher than the recommended irinotecan dose of 180 mg/m2, though the maximum tolerated dose for *28/*28 was considerable lower than the recommended dose. Those who received an irinotecan dose of >=260 mg/m2 had a significantly higher response rate as compared to patients who received a dose of <260mg/m2.","sentence":"UGT1A1 *1/*28 + *28/*28 are associated with decreased dose of irinotecan in people with Colorectal Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28 + *28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4296935","article_title":"Warfarin Dosage Response Related Pharmacogenetics in Chinese Population","article_path":"articles/PMC4296935.md","variant_annotation_id":1444694702,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":25594941,"phenotype_category":"Metabolism/PK","significance":"no","notes":"130 plasma samples were obtained 12 hours after the last dose of warfarin. The plasma warfarin concentrations of these samples were comparing plasma concentration within a group of patients with INR between 1.5\u20132.5 (n = 92) between genotype groups. The relationship between plasma concentration and maintenance dose was evaluated to explore the effect of rs1057910 (CYP2C9) on the pharmacokinetics of warfarin. Within both the low-dosage group (<17.5 mg/w) and the middle-dosage group (17.5\u201326.25 mg/w) the AC genotypes required higher plasma concentration as compared to the AA genotypes although the differences were not statistically significant.","sentence":"Genotype AA is not associated with concentrations of warfarin in people with heart valve replacement as compared to genotype AC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC","comparison_metabolizer_types":null} +{"pmcid":"PMC7028104","article_title":"CYP2B6*6 Genotype Specific Differences in Artemether\u2010Lumefantrine Disposition in Healthy Volunteers","article_path":"articles/PMC7028104.md","variant_annotation_id":1451123300,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"artemether","pmid":31549442,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Subjects with the *6/*6 genotype had a significantly increased metabolic ratio of artemether:dihydroatmemisnin copmared to subjects with the *1/*1 genotype. However, there were no significant differences in any other PK parameters assessed.","sentence":"CYP2B6 *6/*6 is associated with decreased metabolism of artemether in healthy individuals as compared to CYP2B6 *1/*1.","alleles":"*6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6647927","article_title":"Influence of (ATP)-Binding Cassette Transporter Subfamily B Member 1 (ABCB1) Gene Polymorphism on the Efficacy of Remifentanil","article_path":"articles/PMC6647927.md","variant_annotation_id":1451118697,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"remifentanil","pmid":31346154,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the GG genotype had significantly longer analepsia time, longer autonomous respiratory recovery time and longer orientation recovery time than patients with the AA genotype.","sentence":"Genotype GG is associated with decreased response to remifentanil as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC2754599","article_title":"CYP2B6 Variants and Plasma Efavirenz Concentrations during Antiretroviral Therapy in Port-au-Prince, Haiti","article_path":"articles/PMC2754599.md","variant_annotation_id":827704966,"variant_haplotypes":"rs28399433","gene":"CYP2A6","drugs":"efavirenz","pmid":19659438,"phenotype_category":"Metabolism/PK","significance":"no","notes":"As determined by higher plasma levels. Although this association was not statistically significant after Bonferroni correction for multiple comparisons. This polymorphism was described as being in the cyp2a6 promoter region.","sentence":"Genotype AC is associated with decreased metabolism of efavirenz in people with HIV Infections as compared to genotype AA.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4762905","article_title":"Polymorphisms in the ABCB1 gene and effect on outcome and toxicity in childhood acute lymphoblastic leukemia","article_path":"articles/PMC4762905.md","variant_annotation_id":1445297161,"variant_haplotypes":"rs2229109","gene":"ABCB1","drugs":"doxorubicin, methotrexate, prednisolone, vincristine","pmid":25582575,"phenotype_category":"Efficacy","significance":"yes","notes":"In children with high-risk acute lymphoblastic leukemia (ALL; see paper for definition of high risk); no significant results seen for children with low-risk ALL. Risk of relapse was approximately 4-fold greater for those with the CT genotype as compared to those with the CC genotype. Multivariate analysis adjusted for protocol, gender and immunophenotype. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype CT is associated with increased resistance to doxorubicin, methotrexate, prednisolone and vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3523080","article_title":"PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients","article_path":"articles/PMC3523080.md","variant_annotation_id":1184512548,"variant_haplotypes":"rs1464602","gene":"NR1I2","drugs":"efavirenz","pmid":23173844,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Plasma levels of efavirenz were not statistically significantly different between the GG, AG, AA genotypes of this SNP. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with metabolism of efavirenz in people with HIV Infections as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC9298338","article_title":"No significant influence of OCT1 genotypes on the pharmacokinetics of morphine in adult surgical patients","article_path":"articles/PMC9298338.md","variant_annotation_id":1451648740,"variant_haplotypes":"rs12208357","gene":"SLC22A1","drugs":"morphine","pmid":34599645,"phenotype_category":"Dosage","significance":"no","notes":"Analyzed as part of haplotypes with rs34059508, rs72552763 and rs34130495. No significant association between haplotypes and PCA doses of morphine.","sentence":"Allele T is not associated with dose of morphine in people with Pain, Postoperative as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113812,"variant_haplotypes":"rs3823010","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele A is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4616511","article_title":"Combined Effects of 2 Interleukin 28B Polymorphisms on the Therapeutic Outcome of Hepatitis C Patients With Circulating Cryoglobulins","article_path":"articles/PMC4616511.md","variant_annotation_id":1447951892,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"interferons, ribavirin","pmid":26334898,"phenotype_category":"Efficacy","significance":"yes","notes":"Measured according to impact on sustained virological response. Significant only in non-cryoglobulinemic patients. Not significant in cryoglobulinemic patients. GG to TT p = 0.049.","sentence":"Genotype GG is associated with increased response to interferons and ribavirin in people with Hepatitis C as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC10527451","article_title":"Population Pharmacokinetics, Pharmacodynamics, and Pharmacogenetics Modeling of Oxypurinol in Hmong Adults with Gout and/or Hyperuricemia","article_path":"articles/PMC10527451.md","variant_annotation_id":1452106280,"variant_haplotypes":"rs12129861","gene":"PDZK1","drugs":"allopurinol","pmid":37202871,"phenotype_category":"Dosage","significance":"not stated","notes":"\"Most individuals with both PDZK1 rs12129861 AA and SLC22A12 rs505802 CC genotypes achieve target SU (with at least 75% success rate) with allopurinol below the maximum dose, regardless of renal function and body mass. In contrast, individuals with both PDZK1 rs12129861 GG and SLC22A12 rs505802 TT genotypes would require more than the maximum dose, thus selecting alternative medications.\"","sentence":"Allele C is associated with increased dose of allopurinol in people with Gout as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Gout","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6313513","article_title":"Impact of Promoter Polymorphisms on the Transcriptional Regulation of the Organic Cation Transporter OCT1 (SLC22A1)","article_path":"articles/PMC6313513.md","variant_annotation_id":1452509960,"variant_haplotypes":"rs6935207","gene":"SLC22A1","drugs":"cycloguanil, fenoterol, sumatriptan","pmid":30544975,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with exposure to cycloguanil, fenoterol or sumatriptan in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113721,"variant_haplotypes":"rs10485057","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele G is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2760462","article_title":"Atazanavir pharmacokinetics in genetically determined CYP3A5 expressors versus non-expressors","article_path":"articles/PMC2760462.md","variant_annotation_id":1184998561,"variant_haplotypes":"CYP3A5*1, CYP3A5*3, CYP3A5*6, CYP3A5*7","gene":"CYP3A5","drugs":"atazanavir","pmid":19710077,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in individuals who are co-administered ritonavir as a booster. In this two-phase study, healthy participants were given atazanavir only for 7 days and then were co-administered ritonavir as a booster for days 8-14. The results here are for day 8-14 (atazanavir and ritonavir). Non-expressor status was assigned to CYP3A5 homozygous variants (*3, *6 or *7) and expressor status was assigned to those carrying at least one *1 allele. After the first phase of the study 1 expresser and 4 non-expressers withdrew from, but did not indicate why. There were no significant differences in ritonavir boosted atazanavir oral clearance comparing between CYP3A5 expressers and non-expressers. The only significant differences emerged when comparing within the non-African-American group: the CYP3A5 expresser group had faster CL vs. non-expressers. Note: the authors do not specify which *3 allele patients had and so *3a here represents all *3 alleles.","sentence":"CYP3A5 *3 + *6 + *7 are associated with decreased metabolism of atazanavir in healthy individuals as compared to CYP3A5 *1.","alleles":"*3 + *6 + *7","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679374,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"esomeprazole, lansoprazole, omeprazole, rabeprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the *1/*1 genotype had a significantly lower eradication rate of Helicobacter pylori (H. pylori), as compared to those with the *2/*2, *2/*3 or *3/*3 genotype. This was a meta-analysis and included 16 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received antibiotics as part of triple therapy: either amoxicillin and clarithromycin, amoxicillin and metronidazole, or amoxicillin and levofloxacin.","sentence":"CYP2C19 *1/*1 is associated with decreased response to esomeprazole, lansoprazole, omeprazole or rabeprazole in people with Helicobacter Infections as compared to CYP2C19 *2/*2 + *2/*3 + *3/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*2 + *2/*3 + *3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC3330749","article_title":"Genetic and environmental factors determining clinical outcomes and cost of warfarin therapy: a prospective study","article_path":"articles/PMC3330749.md","variant_annotation_id":1447519938,"variant_haplotypes":"rs2860905","gene":"CYP2C9","drugs":"warfarin","pmid":19752777,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":655386940,"variant_haplotypes":"rs7793837","gene":"CRHR2","drugs":"salbutamol, selective beta-2-adrenoreceptor agonists","pmid":18408560,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased response to salbutamol and selective beta-2-adrenoreceptor agonists in people with Asthma as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680047,"variant_haplotypes":"rs77441273","gene":"SLC24A4","drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"yes","notes":"The allele associated with increased response and low frequency is not explicitly stated. Response is increased for carriers of the rare, minor allele. This association was significant in the initial GWAS (in GALA II). In an attempted replication by imputation in silico in GALA I, there was a consistent direction of effect in Puerto Ricans, but the result was not significant. GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation.","sentence":"Genotype AG is associated with increased response to salbutamol in children with Asthma as compared to genotype GG.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC1885008","article_title":"Interpatient variability in the pharmacokinetics of the HIV non-nucleoside reverse transcriptase inhibitor efavirenz: the effect of gender, race, and CYP2B6 polymorphism","article_path":"articles/PMC1885008.md","variant_annotation_id":1184512390,"variant_haplotypes":"rs3211371","gene":"CYP2B6","drugs":"efavirenz","pmid":16433869,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Efavirenz plasma concentrations were not significantly different between the CC genotype and CT or the CC genotype and the TT genotype. The T allele was at a significantly lower frequency in Black and Asian patients compared to Caucasian patients.","sentence":"Genotype TT is not associated with metabolism of efavirenz in people with HIV Infections as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6265082","article_title":"Tacrolimus Elimination in Four Patients With a CYP3A5*3/*3 CYP3A4*22/*22 Genotype Combination","article_path":"articles/PMC6265082.md","variant_annotation_id":1449575706,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":29804290,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"The TT genotype at rs776746 (CYP3A5 *3/*3) was found along with the AA genotype at rs35599367 (CYP3A4 *22/*22) in 4/1366 kidney transplant recipients. Individuals who were homozygous for both had the highest dose-adjusted trough concentrations of tacrolimus (3.05 ng/ml/mg) and the lowest concentrations of tacrolimus (2.5 mg/day) as compared to patients who carried the rs776746 CC and rs35599367 GG genotypes.","sentence":"Genotype TT is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5558527","article_title":"A genetic risk score is associated with statin-induced low-density lipoprotein cholesterol lowering","article_path":"articles/PMC5558527.md","variant_annotation_id":1447986186,"variant_haplotypes":"rs10455872","gene":"LPA","drugs":"hmg coa reductase inhibitors","pmid":27045730,"phenotype_category":"Efficacy","significance":"yes","notes":"as part of a three SNP genetic risk score with rs2231142 in ABCG2 and rs2075650 in APOE. Associated allele not explicitly stated but methods reference Chasman et al., so used the associated allele from there [PMID:22331829].","sentence":"Allele G is associated with decreased response to hmg coa reductase inhibitors as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2570505","article_title":"Pharmacokinetic and pharmacogenetic determinants of the activity and toxicity of irinotecan in metastatic colorectal cancer patients","article_path":"articles/PMC2570505.md","variant_annotation_id":1451211800,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"SN-38","pmid":18797458,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association was seen between rs8175347 genotype and the area under the concentration curve (AUC) of SN-38G, the glucuronidated and inactive SN-38 metabolite. UGT1A1 is responsible for the glucuronidation of SN-38.","sentence":"UGT1A1 *1/*28 + *28/*28 are not associated with metabolism of SN-38 in people with Colorectal Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28 + *28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC7115450","article_title":"Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial","article_path":"articles/PMC7115450.md","variant_annotation_id":1451148566,"variant_haplotypes":"rs6311","gene":"HTR2A","drugs":"escitalopram","pmid":31721892,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to escitalopram in people with Depression as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359420,"variant_haplotypes":"rs10770141","gene":"TH","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of heroin in people with Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995758,"variant_haplotypes":"rs2515409","gene":"ANGPT2","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4722076","article_title":"Predictive factors for 24\u00a0weeks sustained virologic response (SVR24) and viral relapse in patients treated with simeprevir plus peginterferon and ribavirin","article_path":"articles/PMC4722076.md","variant_annotation_id":1447676770,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, simeprevir","pmid":26264253,"phenotype_category":"Efficacy","significance":"yes","notes":"in treatment-na\u00efve patients and relapsers.","sentence":"Genotype TT is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or simeprevir in people with Hepatitis C as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491249,"variant_haplotypes":"rs10514062","gene":"SV2C","drugs":"risperidone","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score. In significant LD (r2 > 0.95) with rs7732173 and rs2358531.","sentence":"Genotype TT is not associated with response to risperidone in people with Schizophrenia as compared to genotypes AA + AT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AT","comparison_metabolizer_types":null} +{"pmcid":"PMC2432487","article_title":"Effect of CYP2C19*2 and *17 mutations on pharmacodynamics and kinetics of proton pump inhibitors in Caucasians","article_path":"articles/PMC2432487.md","variant_annotation_id":1183623479,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"omeprazole, pantoprazole","pmid":18241283,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the mean percentage of time with intragastric pH greater than 4.0 was seen between the genotypes in subjects taking omeprazole (20 mg/day) or pantoprazole (40 mg/day). Subjects were treated with either drug for 6 days, in a crossover fashion; mean percentage of time with intragastric pH greater than 4.0 was measured on day 1 and day 6 after initiation of treatment.","sentence":"CYP2C19 *1/*1 is not associated with response to omeprazole or pantoprazole in healthy individuals as compared to CYP2C19 *1/*17.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*17","comparison_metabolizer_types":null} +{"pmcid":"PMC4296935","article_title":"Warfarin Dosage Response Related Pharmacogenetics in Chinese Population","article_path":"articles/PMC4296935.md","variant_annotation_id":1444694638,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":25594941,"phenotype_category":"Dosage","significance":"no","notes":"130 plasma samples were obtained 12 hours after the last dose of warfarin. The plasma warfarin concentrations of these samples were comparing plasma concentration within the group of patients with INR between 1.5\u20132.5 (n = 92). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotypes CT + TT are not associated with concentrations of warfarin in people with heart valve replacement as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449002970,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"no","notes":"Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele C is not associated with response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC10499425","article_title":"Variant\u2010based heritability assessment of dexmedetomidine and fentanyl clearance in pediatric patients","article_path":"articles/PMC10499425.md","variant_annotation_id":1452141740,"variant_haplotypes":"rs114087210","gene":"KCNA3","drugs":"dexmedetomidine","pmid":37353859,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Data from Table S2, direction of effect and risk allele not clear. Minor allele and frequency stated. Mapped to dbSNP using genomic location 1:111239222:A:G on hg19/GRCh37. \"GWAS failed to identify any variants meeting the genome-wide statistical significance threshold of 5\u2009\u00d7\u200910\u22128\" This is top scoring variant.","sentence":"Allele A is associated with decreased clearance of dexmedetomidine in children with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6489578","article_title":"VKORC1 variants as significant predictors of warfarin dose in Emiratis","article_path":"articles/PMC6489578.md","variant_annotation_id":1451589728,"variant_haplotypes":"rs61742245","gene":"VKORC1","drugs":"warfarin","pmid":31114289,"phenotype_category":"Dosage","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes AA + AC are associated with increased dose of warfarin as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5558527","article_title":"A genetic risk score is associated with statin-induced low-density lipoprotein cholesterol lowering","article_path":"articles/PMC5558527.md","variant_annotation_id":1447986178,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"hmg coa reductase inhibitors","pmid":27045730,"phenotype_category":"Efficacy","significance":"yes","notes":"as part of a three SNP genetic risk score with rs10455872 in LPA and rs2075650 in APOE. Associated allele not explicitly stated but methods reference Tomlinson et al. so used the associated allele from there [PMID:20130569].","sentence":"Allele G is associated with decreased response to hmg coa reductase inhibitors as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC11158323","article_title":"CYP2A6 and the plasma level of 5\u2010chloro\u20102, 4\u2010dihydroxypyridine are determinants of the pharmacokinetic variability of tegafur and 5\u2010fluorouracil, respectively, in Japanese patients with cancer given S\u20101","article_path":"articles/PMC11158323.md","variant_annotation_id":827700537,"variant_haplotypes":"CYP2A6*1, CYP2A6*4, CYP2A6*7","gene":"CYP2A6","drugs":"tegafur","pmid":18380793,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Oral clearance. Please note; the allele was described in the study as *4, and here is represented as *4. Also, the 3' UTR conversion of the *7 allele was not mentioned in the study.","sentence":"CYP2A6 *4/*4 + *4/*7 + *7/*7 are associated with decreased clearance of tegafur in people with Neoplasms as compared to CYP2A6 *1/*1.","alleles":"*4/*4 + *4/*7 + *7/*7","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4236071","article_title":"Adiponectin Gene Polymorphism rs2241766 T/G Is Associated with Response to Pioglitazone Treatment in Type 2 Diabetic Patients from Southern China","article_path":"articles/PMC4236071.md","variant_annotation_id":1444667028,"variant_haplotypes":"rs1063538","gene":"ADIPOQ","drugs":"pioglitazone","pmid":25405601,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as \"any decrease greater than (or equal to) 15%\" of glycated hemoglobin (HbA1C%).","sentence":"Genotypes CC + CT are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2276142","article_title":"Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in Rheumatoid Arthritis","article_path":"articles/PMC2276142.md","variant_annotation_id":1448107943,"variant_haplotypes":"rs854547","gene":"PON1","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":18615156,"phenotype_category":"Efficacy","significance":"no","notes":"54 subjects were treated with etanercept, 37 with infliximab, and 25 with adalimumab. Response to therapy was determined by the change in Disease Activity Score (DAS28) observed after 14 wks.","sentence":"Allele A is associated with decreased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954037,"variant_haplotypes":"rs1801260","gene":"CLOCK","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC9820795","article_title":"The MAOA rs979605 Genetic Polymorphism Is Differentially Associated with Clinical Improvement Following Antidepressant Treatment between Male and Female Depressed Patients","article_path":"articles/PMC9820795.md","variant_annotation_id":1451987784,"variant_haplotypes":"rs979605","gene":"MAOA","drugs":"antidepressants","pmid":36613935,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as measured by Hamilton score. \"rs979605(G) allele was correlated with the rs6323(T) allele\" \"The rs979605 \u00d7 sex interaction was significantly associated with the HDRS score, and after 6 months of treatment, a significantly higher HDRS score was observed in female rs979605 AA homozygotes compared to male A carriers.\"","sentence":"Genotype AA is associated with decreased clinical benefit to antidepressants in people with Depressive Disorder, Major as compared to allele A.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC11203291","article_title":"Prognostic Role of Human Leukocyte Antigen Alleles and Cytokine Single-Nucleotide Polymorphisms in Patients with Chronic Myeloid Leukemia Treated with Tyrosine Kinase Inhibitor Drugs","article_path":"articles/PMC11203291.md","variant_annotation_id":1452518123,"variant_haplotypes":"HLA-A*03:01","gene":"HLA-A","drugs":"BCR-ABL tyrosine kinase inhibitors","pmid":38927668,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The frequency of A*03 is increased by a factor of 2.3 in the unfavorable group (p-value = 0.0347). \"","sentence":"HLA-A *03:01 is associated with decreased clinical benefit to BCR-ABL tyrosine kinase inhibitors in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive.","alleles":"*03:01","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6462825","article_title":"Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort","article_path":"articles/PMC6462825.md","variant_annotation_id":1449164032,"variant_haplotypes":"rs11168292","gene":"VDR","drugs":"warfarin","pmid":29298995,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP is in very tight linkage disequilibrium with rs11168293 and rs4760658 (r2>0.97). Mean dose (in mg) of warfarin according to genotype was: GG>CG>CC. p-value adjusted for CYP2C9 metabolizer status and VKORC1 activity status phenotypes, among other factors. Warfarin dose requirement was defined as the reported daily dose at 3 months following treatment initiation.","sentence":"Genotype GG is associated with increased dose of warfarin as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928098,"variant_haplotypes":"rs1056827","gene":"CYP1B1","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"The A allele was initially significantly more frequent in patients designated as non-responders to risperidone (i.e. <50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.","sentence":"Allele A is associated with decreased response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3735354","article_title":"CYP2B6 SNPs are associated with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3735354.md","variant_annotation_id":1183698962,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"methadone","pmid":21790905,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the GG or GT genotype required an increased mean daily methadone dose (mg/day) as compared to those with the TT genotype. Please note that this SNP was found to be in strong LD (D' = 1 and r2 = 0.9) with rs2279343 in this sample population.","sentence":"Genotypes GG + GT are associated with increased dose of methadone in people with Heroin Dependence as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6375065","article_title":"An expanded pharmacogenomics warfarin dosing table with utility in generalised dosing guidance","article_path":"articles/PMC6375065.md","variant_annotation_id":1448109677,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":27121899,"phenotype_category":"Dosage","significance":"not stated","notes":"This variant annotation is part of a dosing algorithm table based on 8 genetic variants.","sentence":"Allele A is associated with dose of warfarin as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703573,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype was not significantly with associated with likelihood of achieving major molecular response (MMR) within 12 months. MMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; MMR was a ratio <= 0.1%. Please note that alleles have been complemented to the plus chromosomal strand, and that this SNP was listed as rs60023214.","sentence":"Genotype GG is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3992925","article_title":"IL-4 receptor polymorphisms predict reduction in asthma exacerbations during response to an anti\u2013IL-4 receptor \u03b1 antagonist","article_path":"articles/PMC3992925.md","variant_annotation_id":981477306,"variant_haplotypes":"rs1029489","gene":"IL4R","drugs":"pitrakinra","pmid":22541248,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the GG genotype have a reduced frequency of asthma exacerbations compared to those with the AA + AG genotypes. There is also a significant dose-response relationship for this phenotype in subjects with the GG genotype.","sentence":"Genotype GG is associated with increased response to pitrakinra in people with Asthma as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC6219441","article_title":"Comprehensive Ara-C SNP score predicts leukemic cell intracellular ara-CTP levels in pediatric acute myeloid leukemia patients","article_path":"articles/PMC6219441.md","variant_annotation_id":1449751996,"variant_haplotypes":"rs4643786","gene":"DCK","drugs":"ara-CTP","pmid":30088438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes CC + CT is associated with decreased concentrations of ara-CTP in children with Leukemia, Myeloid, Acute as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715570,"variant_haplotypes":"rs6851533","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Dosage","significance":"no","notes":"There was no significant difference in 24 hour fentanyl use between the genotype groups.","sentence":"Allele T is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2935997","article_title":"The effects of CYP2D6 and CYP3A activities on the pharmacokinetics of immediate release oxycodone","article_path":"articles/PMC2935997.md","variant_annotation_id":1449003184,"variant_haplotypes":"CYP2D6 poor metabolizer genotype","gene":"CYP2D6","drugs":"oxycodone","pmid":20590587,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The half-life of oxycodone was significantly increased in poor metabolizers compared to extensive metabolizers, but there was no significant difference in oxycodone half-life between poor metabolizers and ultrarapid metabolizers.","sentence":"CYP2D6 poor metabolizer is associated with increased exposure to oxycodone in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4590670","article_title":"Optimizing clopidogrel dose response: a new clinical algorithm comprising CYP2C19 pharmacogenetics and drug interactions","article_path":"articles/PMC4590670.md","variant_annotation_id":1448261184,"variant_haplotypes":"CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"clopidogrel","pmid":26445541,"phenotype_category":"Dosage","significance":"not stated","notes":"This study provided a table of dose adjustments for clopidogrel, based on CYP2C19 genotype and interacting drugs metabolized by CYP2C19. It was based on a clopidogrel dose of 75 mg.","sentence":"CYP2C19 *2 + *3 + *17 are associated with dose of clopidogrel.","alleles":"*2 + *3 + *17","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC10483403","article_title":"Genetic polymorphisms are associated with individual susceptibility to dexmedetomidine","article_path":"articles/PMC10483403.md","variant_annotation_id":1452240955,"variant_haplotypes":"rs16934182","gene":"KCNMA1","drugs":"dexmedetomidine","pmid":37693312,"phenotype_category":"Toxicity","significance":"yes","notes":"as measured by decreased in mean arterial pressure. \"Concerning the hemodynamic effect, we discovered the patients with GA/AA had a greater percent change in MAP than those with GG (\u221223.07 \u00b1 4.41 vs. \u22128.58 \u00b1 9.36, p = 0.009). Therefore, heterozygosity or homozygosity for A allele of KCNMA1 rs16934182 was more sensitive to the cardiovascular effect of DXM.\"","sentence":"Genotypes AA + AG is associated with increased response to dexmedetomidine in people with surgery as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:surgery","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3931261","article_title":"Novel CYP2A6 variants identified in African Americans are associated with slow nicotine metabolism in vitro and in vivo","article_path":"articles/PMC3931261.md","variant_annotation_id":1452442345,"variant_haplotypes":"CYP2A6*1, CYP2A6*39","gene":"CYP2A6","drugs":"nicotine","pmid":24305170,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Association with lower activity of the novel variant groups [CYP2A6*39 (V68M; rs143690364), CYP2A6*40 (I149M), CYP2A6*41 (R265Q; rs140471703), CYP2A6*42 (I268T), CYP2A6*43 (T303I), CYP2A6*44 (E390K; rs376817657), CYP2A6*44 (L462P)] was; tested using a one-way analysis of variance with Bonferroni tests used for post-hoc analysis, P<0.01. A comparison between CYP2A6*1/*1 and; the combined group was tested using an unpaired t-test, ***P<0.001","sentence":"CYP2A6 *39 is associated with decreased metabolism of nicotine as compared to CYP2A6 *1.","alleles":"*39","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3061841","article_title":"The Relation Between CYP2C19 Genotype and Phenotype in Stented Patients on Maintenance Dual Antiplatelet Therapy","article_path":"articles/PMC3061841.md","variant_annotation_id":769245465,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"aspirin, clopidogrel","pmid":21392617,"phenotype_category":"Efficacy","significance":"yes","notes":"The prevalence of High Platelet Reactivity (HPR) was higher in (AA + AG) compared to GG, but the template doesn't accommodate this. *2 SNP. [stat_test: chi-square]","sentence":"Allele A is associated with decreased response to aspirin and clopidogrel in people with Coronary Artery Disease as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC1885108","article_title":"Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes","article_path":"articles/PMC1885108.md","variant_annotation_id":982043203,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"pravastatin","pmid":16722833,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association was found between PK parameters and this SNP.","sentence":"Allele G is not associated with metabolism of pravastatin in children with Hyperlipoproteinemia Type II as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Hyperlipoproteinemia Type II","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3237821","article_title":"ASSOCIATIONS OF ABCB1 3435C>T AND IL-10 -1082G>A POLYMORPHISMS WITH LONG-TERM SIROLIMUS DOSE REQUIREMENTS IN RENAL TRANSPLANT PATIENTS","article_path":"articles/PMC3237821.md","variant_annotation_id":1448567951,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"sirolimus","pmid":22094953,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in log-transformed dose-adjusted trough concentrations (C/D) were seen between the genotypes AA, AG or GG.","sentence":"Allele A is not associated with dose-adjusted trough concentrations of sirolimus in people with Kidney Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6423619","article_title":"Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19","article_path":"articles/PMC6423619.md","variant_annotation_id":1450935696,"variant_haplotypes":"rs771237265","gene":"CYP2C9","drugs":"tolbutamide","pmid":30745309,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In vitro analysis showed that intrinsic clearance of tolbutamide by CYP2C9 protein containing the C allele was 9.6% of that of the WT protein. Variant referred to as 343A>C in the paper.","sentence":"Allele C is associated with decreased clearance of tolbutamide as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451973940,"variant_haplotypes":"CYP2C19*1, CYP2C19*3","gene":"CYP2C19","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":"*3 was not significant alone, there were no *3/*3 individuals in the discovery sample set.","sentence":"CYP2C19 *1/*3 is associated with increased resistance to clopidogrel in people with Coronary Disease as compared to CYP2C19 *1/*1.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2596476","article_title":"A GRK5 Polymorphism that Inhibits \u03b2-Adrenergic Receptor Signaling is Protective in Heart Failure","article_path":"articles/PMC2596476.md","variant_annotation_id":827864486,"variant_haplotypes":"rs2230345","gene":"GRK5","drugs":"Beta Blocking Agents","pmid":18425130,"phenotype_category":"Efficacy","significance":"not stated","notes":"P value is comparing with and without drug, not genotypes. When not treated with beta blockers patients with GRK-Q41 have increased risk of death or transplantation compared to patients with GRK-L41. When treated with beta blockers patients with GRK-Q41 showed improvements with beta blockers that brought the Kaplan Meier curve up to the same as that for GRK-L41. When treated with beta blockers patients with the GRK-L41 (TT) did not show any change in outcome.","sentence":"Genotypes AA + AT are associated with response to Beta Blocking Agents in people with Heart Failure as compared to genotype TT.","alleles":"AA + AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2879959","article_title":"Impact of the CYP2C19*17 Allele on the Pharmacokinetics of Omeprazole and Pantoprazole in Children: Evidence for a Differential Effect","article_path":"articles/PMC2879959.md","variant_annotation_id":1447947241,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"omeprazole","pmid":20223877,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was no significant difference in PK parameters in pediatric subjects among those carrying *17, *1 and *2 (*1/*1, *1/*17, *17/*17, *1/*2, *2/*17).","sentence":"CYP2C19 *17 is not associated with increased metabolism of omeprazole in children as compared to CYP2C19 *1 + *2.","alleles":"*17","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *2","comparison_metabolizer_types":null} +{"pmcid":"PMC9537548","article_title":"A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients","article_path":"articles/PMC9537548.md","variant_annotation_id":1451919000,"variant_haplotypes":"rs28371685","gene":"CYP2C9","drugs":"warfarin","pmid":36210801,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"for S-warfarin stereoisomer in particular, measured as increased S-warfarin/R-warfarin ratio and decreased S-7OH-warfarin/S-warfarin and using a Bonferroni-adjusted replication significance threshold p < 3.21 \u00d7 10\u22124. (CYP2C9*11)","sentence":"Allele T is associated with decreased metabolism of warfarin in people with Atrial Fibrillation, venous thromboembolism or Heart Valve Diseases as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation, Other:Venous thromboembolism, Other:Heart Valve Diseases","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359561,"variant_haplotypes":"rs6347","gene":"SLC6A3","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of methadone in people with Heroin Dependence as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5432414","article_title":"ABC Transporter Polymorphisms are Associated with Irinotecan Pharmacokinetics and Neutropenia","article_path":"articles/PMC5432414.md","variant_annotation_id":1448432576,"variant_haplotypes":"rs2373586","gene":"ABCB1","drugs":"SN-38","pmid":27845419,"phenotype_category":"Metabolism/PK","significance":"no","notes":"AUC of SN-38 was adjusted for irinotecan dose.","sentence":"Genotypes AC + CC are not associated with exposure to SN-38 in people with Colorectal Neoplasms as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5562097","article_title":"Race, Gender, and Genetic Polymorphism Contribute to Variability in Acetaminophen Pharmacokinetics, Metabolism, and Protein-Adduct Concentrations in Healthy African-American and European-American Volunteers","article_path":"articles/PMC5562097.md","variant_annotation_id":1448639952,"variant_haplotypes":"rs1902023","gene":"UGT2B15","drugs":"acetaminophen","pmid":28663312,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Metabolism here refers to concentration of acetaminophen protein adducts. The A allele is also referred to as the *2 allele. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AA is associated with increased metabolism of acetaminophen in healthy individuals as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":655388236,"variant_haplotypes":"rs2016520","gene":"PPARD","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with dbSNP, actual base not listed in paper, dbSNP changed designation of this allele from G/A to C/T at build 132)","sentence":"Allele C is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003329,"variant_haplotypes":"rs11045879","gene":"SLCO1B1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There is no association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: CC +TC (0.50 (0.09\u201341.63)) vs. TT(0.39 (0.12\u201319.88))","sentence":"Genotypes CC + CT are not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC10970167","article_title":"PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis","article_path":"articles/PMC10970167.md","variant_annotation_id":1452433750,"variant_haplotypes":"rs295943","gene":"PDE4D","drugs":"apremilast","pmid":38540428,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Allele-based association tests detected 64 SNPs displaying nominal p values < 0.05 (Table 2) including 10 SNPs with p values \u2264 0.01. \" Table 2 shows frequency of minor allele is responders and non-responders. Responder status maybe defined by PASI score improvement greater than 75% after 24\u201336 weeks of treatment.","sentence":"Allele T is associated with decreased clinical benefit to apremilast in people with Psoriasis as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6742943","article_title":"Genomic Association Analysis Reveals Variants Associated With Blood Pressure Response to Beta\u2010Blockers in European Americans","article_path":"articles/PMC6742943.md","variant_annotation_id":1451106148,"variant_haplotypes":"rs45545233","gene":"SLC4A1","drugs":"atenolol, metoprolol","pmid":31033190,"phenotype_category":"Efficacy","significance":"yes","notes":"The grouped CC and CT genotypes were associated with a smaller decrease in diastolic blood pressure in a meta-analysis of patients receiving metoprolol or atenolol monotherapy (discovery cohort) and in patients receiving atenolol addon therapy (replication cohort).","sentence":"Genotypes CC + CT are associated with decreased response to atenolol or metoprolol in people with Hypertension as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928272,"variant_haplotypes":"rs4483927","gene":"HRH4","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to risperidone in people with Schizophrenia as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566695,"variant_haplotypes":"rs283416","gene":"ADH1C","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this snp is NOT significant after Bonferroni correction (<0.00049). Also, the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele A is associated with metabolism of ethanol.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7235792","article_title":"Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates","article_path":"articles/PMC7235792.md","variant_annotation_id":1451147625,"variant_haplotypes":"CYP3A4*1, CYP3A4*3, CYP3A4*20, CYP3A4*22","gene":"CYP3A4","drugs":"fesoterodine","pmid":32331352,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Clearance was increased in the presence of CYP3A4 variants. Statistical analysis was not carried out for individual drugs due to the low number of subjects carrying CYP3A4 variants. *3 allele was identified using rs4986910, *20 was identified using rs67666821 and *22 was identified using rs35599367.","sentence":"CYP3A4 *3 + *20 + *22 are associated with increased clearance of fesoterodine in healthy individuals as compared to CYP3A4 *1.","alleles":"*3 + *20 + *22","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449002928,"variant_haplotypes":"rs2838958","gene":"SLC19A1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"yes","notes":"Although this variant showed a trend of association with response, it was not associated in univariate analysis, but subsequent inclusion in a Cox multivariable regression analysis.","sentence":"Genotype AA is associated with decreased response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5051541","article_title":"Using EHR-Linked Biobank Data to Study Metformin Pharmacogenomics","article_path":"articles/PMC5051541.md","variant_annotation_id":1452726048,"variant_haplotypes":"rs10234709","gene":"SLC29A4","drugs":"metformin","pmid":25991289,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. \"For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome.\" Table 2 shows rs10234709 as top SNP for SLC29A4","sentence":"Allele A is associated with decreased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC8975736","article_title":"Identification of sex-specific genetic associations in response to opioid analgesics in a White, non-Hispanic cohort from Southeast Minnesota","article_path":"articles/PMC8975736.md","variant_annotation_id":1451692560,"variant_haplotypes":"rs1056836","gene":"CYP1B1","drugs":"codeine, tramadol","pmid":35102242,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele C is associated with decreased clinical benefit to codeine or tramadol in men with Pain as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in men with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3726442","article_title":"Relationship between Genotypes Sult1a2 and Cyp2d6 and Tamoxifen Metabolism in Breast Cancer Patients","article_path":"articles/PMC3726442.md","variant_annotation_id":1451097220,"variant_haplotypes":"rs1059491","gene":"SULT1A2","drugs":"4-hydroxytamoxifen, endoxifen","pmid":23922954,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as part of haplotype *1*1 vs *1/*2 + *2/*2 (rs1136703A>G and rs1059491T>G). Pre and postmenopausal woman with estrogen receptor-positive breast cancer undergoing tam treatment after surgery and chemotherapy/radiation. Patients were excluded if tamoxifen therapy was started with either chemotherapy or radiation.","sentence":"Genotype TT are associated with decreased concentrations of 4-hydroxytamoxifen or endoxifen in women with Breast Neoplasms as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC5425333","article_title":"Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta\u2010Analysis","article_path":"articles/PMC5425333.md","variant_annotation_id":1448631766,"variant_haplotypes":"rs2289669","gene":"SLC47A1","drugs":"metformin","pmid":27859023,"phenotype_category":"Efficacy","significance":"no","notes":"This variant is not associated with metformin glycemic response assessed as HbA1c reduction in patients on metformin monotherapy.","sentence":"Allele A is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4833150","article_title":"Genetic markers in CYP2C19 and CYP2B6 for prediction of cyclophosphamide's 4\u2010hydroxylation, efficacy and side effects in Chinese patients with systemic lupus erythematosus","article_path":"articles/PMC4833150.md","variant_annotation_id":1446907707,"variant_haplotypes":"rs7254579","gene":"CYP2B6","drugs":"cyclophosphamide","pmid":26456622,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This SNP had a small but significant effect on cyclophosphamide (CPA) metabolite plasma concentrations (4-OH-CPA), but not on CPA concentrations (Bonferroni corrected p-value= 0.0056).","sentence":"Allele C is associated with metabolism of cyclophosphamide in people with Lupus erythematosus as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lupus erythematosus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3044738","article_title":"Response Prediction in Chronic Hepatitis C by Assessment of IP-10 and IL28B-Related Single Nucleotide Polymorphisms","article_path":"articles/PMC3044738.md","variant_annotation_id":982031571,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":21390311,"phenotype_category":"Efficacy","significance":"yes","notes":"Significantly lower baseline plasma levels of IP-10 were associated with this SNP. Lower levels of IP-10 were found to be statistically significantly associated with better treatment outcome. This SNP was found to be in strong linkage disequilibrium with rs8099917.","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163235,"variant_haplotypes":"rs5744247","gene":"IL18","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele C is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170899,"variant_haplotypes":"CYP3A5 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP3A5","drugs":"N-desmethyltamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A5 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of n-desmethyltamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5534241","article_title":"A Longitudinal HbA1c Model Elucidates Genes Linked to Disease Progression on Metformin","article_path":"articles/PMC5534241.md","variant_annotation_id":1448267848,"variant_haplotypes":"rs2617102","gene":"CSMD1","drugs":"metformin","pmid":27415606,"phenotype_category":"Efficacy","significance":"yes","notes":"using computational model-based approaches and genetic, demographic, and long-term HbA1c data from 1,056 patients.","sentence":"Genotypes AC + CC is associated with decreased response to metformin in people with Diabetes Mellitus as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC10244018","article_title":"Population Pharmacokinetic\u2212Pharmacodynamic Modeling of Carvedilol to Evaluate the Effect of Cytochrome P450 2D6 Genotype on the Heart Rate Reduction","article_path":"articles/PMC10244018.md","variant_annotation_id":1452127920,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*10","gene":"CYP2D6","drugs":"carvedilol","pmid":37272562,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"This population PK\u2212PD analysis also showed that CYP2D6*10/*10 subjects had a 32.7% lower carvedilol CL/F than CYP2D6*1/*1 and *1/*2 subjects.\"","sentence":"CYP2D6 *10/*10 is associated with decreased clearance of carvedilol in healthy individuals as compared to CYP2D6 *1/*1 + *1/*2.","alleles":"*10/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC6989102","article_title":"Assessing the clinical impact of CYP2C9 pharmacogenetic variation on phenytoin prescribing practice and patient response in an integrated health system","article_path":"articles/PMC6989102.md","variant_annotation_id":1450969293,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"phenytoin","pmid":31461080,"phenotype_category":"Dosage","significance":"yes","notes":"Low-intermediate/poor CYP2C9 genotype was associated with greater odds of having a lower dose by the end of the first year of treatment in the full cohort (OR 1.11; 95% CI: 1.02\u20131.22; P=0.02).","sentence":"CYP2C9 *1/*3 + *2/*2 + *2/*3 + *3/*3 are associated with decreased dose of phenytoin as compared to CYP2C9 *1/*1.","alleles":"*1/*3 + *2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC7649675","article_title":"Pharmacogenetics of TNF inhibitor\u00a0response in rheumatoid arthritis utilizing the two-component disease activity score","article_path":"articles/PMC7649675.md","variant_annotation_id":1451293861,"variant_haplotypes":"rs12081765","gene":null,"drugs":"adalimumab, certolizumab pegol, etanercept, infliximab, Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":33124499,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by change in 2C-DAS28. Table 2 shows change was a negative value for this variant suggesting decreased 2C-DAS28 and increased response, it was not attributed to a particular allele at this rs number location so assumed minor allele based on dbSNP.","sentence":"Allele G is associated with increased response to adalimumab, certolizumab pegol, etanercept, infliximab or Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC11088557","article_title":"Impact of Viloxazine Extended-Release Capsules (Qelbree\u00ae) on Select Cytochrome P450 Enzyme Activity and Evaluation of CYP2D6 Genetic Polymorphisms on Viloxazine Pharmacokinetics","article_path":"articles/PMC11088557.md","variant_annotation_id":1452446400,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"viloxazine","pmid":38598106,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"The increase in peak and total exposures for CYP2D6 PMs generally fell within the pharmacokinetic variability of CYP2D6 EMs, and the differences observed in PMs are not considered to be clinically relevant.\"","sentence":"CYP2D6 poor metabolizer is associated with increased exposure to viloxazine in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4038024","article_title":"CYP3A5 Gene Variation Influences both Systemic and Intrarenal Tacrolimus Disposition","article_path":"articles/PMC4038024.md","variant_annotation_id":1183690032,"variant_haplotypes":"CYP3A5*1, CYP3A5*6","gene":"CYP3A5","drugs":"tacrolimus","pmid":23073208,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Healthy individuals with the CYP3A5 *1/*1 or *1/*6 (rs10264272) genotype had 1.6-fold higher oral tacrolimus clearance and 2.0 - 2.7-fold higher metabolite/parent area under the curve (AUC) ratios for 31-desmethyl tacrolimus (31-DMT), 12-hydroxytacrolimus, and 13-desmethyl tacrolimus (13-DMT), as compared to individuals with the *6/*6 genotype. Subjects who carry two copies of loss-of-function CYP3A5 alleles (CYP3A5*3/rs776746, CYP3A5*6 or CYP3A5*7/rs41303343) were pooled together as CYP3A5 non-expressors for this analysis. CYP3A5 *1 allele carriers were pooled togethers as CYP3A5 expressors.","sentence":"CYP3A5 *1/*1 + *1/*6 is associated with increased clearance of tacrolimus in healthy individuals as compared to CYP3A5 *6/*6.","alleles":"*1/*1 + *1/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*6/*6","comparison_metabolizer_types":null} +{"pmcid":"PMC2888980","article_title":"A Candidate Gene Analysis of Methylphenidate Response in Attention-Deficit/Hyperactivity Disorder","article_path":"articles/PMC2888980.md","variant_annotation_id":1450372926,"variant_haplotypes":"rs3746544","gene":"SNAP25","drugs":"methylphenidate","pmid":19858760,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele T.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3808494","article_title":"Initial Evidence that Oprm1 Genotype Moderates Ventral and Dorsal Striatum Functional Connectivity During Alcohol Cues","article_path":"articles/PMC3808494.md","variant_annotation_id":1450820473,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":23876228,"phenotype_category":"Efficacy","significance":"not stated","notes":"MRI study. Participants with the AG genotype had increased activation within regions including the right insula, bilateral supramarginal gyri, left precuneus, right superior parietal lobule, right orbitofrontal cortex and right angular gyrus following an alcohol cue than AA participants.","sentence":"Genotype AG is associated with increased response to ethanol in people with Alcoholism as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491511,"variant_haplotypes":"rs3184504","gene":"SH2B3","drugs":"hydrochlorothiazide","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in systolic blood pressure (SBP) and diastolic blood pressure (DBP) after 9 weeks of treatment.","sentence":"Allele C is not associated with response to hydrochlorothiazide in people with Hypertension as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4876188","article_title":"Association of CYP2C19*2 and associated haplotypes with lower norendoxifen concentrations in tamoxifen\u2010treated Asian breast cancer patients","article_path":"articles/PMC4876188.md","variant_annotation_id":1447741578,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"tamoxifen","pmid":26799162,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors measured levels of tamoxifen and its metabolites (N-desmethyltamoxifen (NDM), (Z)-4-hydroxytamoxifen, (Z)-endoxifen, N,N-Didesmethyltamoxifen (NDDM)) in women with estrogen receptor + breast cancer. Women carried a CYP2C19 *2 allele had significantly lower nor-endoxefin (NorEND) levels (P<0.001), as well as a lower metabolic ratio (MR) of NorEND/(Z)-END (P<0.001) and a lower MR of NorEND /NDDM (P<0.001) as compared to women with the CYP2C19 *1/*1 genotype even after adjusting for age and CYP2D6 metabolizer status.","sentence":"CYP2C19 *2 is associated with decreased metabolism of tamoxifen in women with Breast Neoplasms as compared to CYP2C19 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114872,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and virologic suppression in patients treated with lopinavir/ritonavir. Variant referred to in the paper as G2677T.","sentence":"Allele A is not associated with response to lopinavir or ritonavir in children with HIV Infections as compared to allele C.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10409991","article_title":"Effects of CYP3A4*22 polymorphism on trough concentration of tacrolimus in kidney transplantation: a systematic review and meta-analysis","article_path":"articles/PMC10409991.md","variant_annotation_id":1452207060,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":37564175,"phenotype_category":"Dosage","significance":"yes","notes":"\"Therefore, the significant effect of CYP3A4*22 on C0/D and the dose requirement of Tac remained evident even after adjusting for CYP3A5*3.\"","sentence":"CYP3A4 *1/*22 + *22/*22 is associated with decreased dose of tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1/*1.","alleles":"*1/*22 + *22/*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3797132","article_title":"SLCO1B1 and SLC19A1 Gene Variants and Irinotecan-Induced Rapid Response and Survival: A Prospective Multicenter Pharmacogenetics Study of Metastatic Colorectal Cancer","article_path":"articles/PMC3797132.md","variant_annotation_id":1183697527,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"capecitabine, fluorouracil, irinotecan, leucovorin","pmid":24143213,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were split into two groups based on treatment. One group received irinotecan, fluorouracil, and leucovorin, and the other group received irinotecan and capecitabine. No association was found between this SNP and rapid response rate, progression free survival, or irinotecan-related time to treatment failure.","sentence":"Genotypes CC + CT are not associated with increased response to capecitabine, fluorouracil, irinotecan or leucovorin in people with Colorectal Neoplasms as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4511425","article_title":"Stress and Bronchodilator Response in Children with Asthma","article_path":"articles/PMC4511425.md","variant_annotation_id":1446897318,"variant_haplotypes":"rs34548976","gene":null,"drugs":"adrenergics, inhalants","pmid":25918834,"phenotype_category":"Efficacy","significance":"yes","notes":"For the discovery cohort, 351 children (ages 6\u201314 yr) with asthma (defined as physician-diagnosed asthma and =1 episode of wheeze in the previous yr) were recruited from households in San Juan (Puerto Rico). Replication of our findings for stress and BDR was attempted in 471 children with asthma (ages 7\u201315 yr) living in Rhode Island (n=229; 59 PR, 81 Dominican, and 89 non-Hispanic white children) and Puerto Rico (n=242) (Rhode Island Puerto Rico Asthma Center [RIPRAC] cohort). Finally, children with high child anxiety and BDR were assessed in 87 children (ages 12\u201317 yr) in the National Health and Nutrition Examination Survey (NHANES) in 2007\u20132010.","sentence":"Allele T is associated with decreased response to adrenergics, inhalants in children with Asthma as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11000398","article_title":"Association of CCND1 rs9344 polymorphism with lung cancer susceptibility and clinical outcomes: a case-control study","article_path":"articles/PMC11000398.md","variant_annotation_id":1452445060,"variant_haplotypes":"rs9344","gene":"CCND1","drugs":"pemetrexed, Platinum compounds","pmid":38589850,"phenotype_category":"Efficacy","significance":"yes","notes":"\"However, CCND1 rs9344 was found to be significantly correlated with the platinum-based chemotherapy response of patients who received platinum\u2009+\u2009pemetrexed therapy (additive model: adjusted OR\u2009=\u20091.926, 95%CI\u2009=\u20091.029\u20133.605, P\u2009=\u20090.040; recessive model: adjusted OR\u2009=\u200911.340, 95%CI\u2009=\u20091.428\u201390.100, P\u2009=\u20090.022).\"","sentence":"Allele A is associated with increased clinical benefit to pemetrexed and Platinum compounds in people with Lung Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5176308","article_title":"Influence of Polymorphisms in the HTR3A and HTR3B Genes on Experimental Pain and the Effect of the 5-HT3 Antagonist Granisetron","article_path":"articles/PMC5176308.md","variant_annotation_id":1448995581,"variant_haplotypes":"rs1176744","gene":"HTR3B","drugs":"granisetron","pmid":28002447,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype AA is not associated with response to granisetron in healthy individuals as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375653,"variant_haplotypes":"rs9366772","gene":"HLA-C","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele A is associated with increased response to allopurinol as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163067,"variant_haplotypes":"rs4148738","gene":"ABCB1","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. This is a proxy for rs2032582 (2677G/T/A ).","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981747482,"variant_haplotypes":"rs292449","gene":"NEDD4L","drugs":"atenolol","pmid":23353631,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to atenolol in people with Hypertension as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5220536","article_title":"Polymorphisms of the KCNQ1 gene are associated with the therapeutic responses of sulfonylureas in Chinese patients with type 2 diabetes","article_path":"articles/PMC5220536.md","variant_annotation_id":1452876165,"variant_haplotypes":"rs2237895","gene":"KCNQ1","drugs":"gliclazide","pmid":27694910,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Similarly, the rs2237895 C allele was associated with a 2.360-fold decrease in glycated hemoglobin compared with the A allele (95% CI: 1.225\u20134.550, P=0.009).\"","sentence":"Allele C is associated with increased clinical benefit to gliclazide in people with Diabetes Mellitus, Type 2 as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928241,"variant_haplotypes":"rs3787429","gene":"HRH3","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10463210","article_title":"Pharmacogenetics of 6-mercaptopurine in a black Zimbabwean cohort treated for acute lymphoblastic leukaemia","article_path":"articles/PMC10463210.md","variant_annotation_id":1452121340,"variant_haplotypes":"TPMT*1, TPMT*3C","gene":"TPMT","drugs":"mercaptopurine","pmid":37248698,"phenotype_category":"Dosage","significance":"no","notes":"\"The median 6-MP dose intensity was considerably low (47%) among TPMT*1/*3C individuals (n = 4) compared with TPMT*1/*1 (77%) individuals (n = 19)\" \"TPMT*3C. Other TPMT alleles *2, *3A and *3B were not detected in this study. The NUDT15*1 allele was detected at a frequency of 100%.\"","sentence":"TPMT *1/*3C is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT *1/*1.","alleles":"*1/*3C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165132,"variant_haplotypes":"rs1867351","gene":"SLC22A1","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with exposure to metformin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6714673","article_title":"Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients","article_path":"articles/PMC6714673.md","variant_annotation_id":1449246724,"variant_haplotypes":"rs1043550","gene":"CALU","drugs":"warfarin","pmid":28049362,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of warfarin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4876172","article_title":"Absence of ethnic differences in the pharmacokinetics of moxifloxacin, simvastatin, and meloxicam among three East Asian populations and Caucasians","article_path":"articles/PMC4876172.md","variant_annotation_id":1451352480,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"simvastatin acid","pmid":26774055,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype CT is associated with increased concentrations of simvastatin acid in healthy individuals as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC11862786","article_title":"Population pharmacokinetics of tacrolimus whole blood and peripheral blood mononuclear cell concentrations in stable kidney\u2010transplanted patients","article_path":"articles/PMC11862786.md","variant_annotation_id":1452640287,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":39390741,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"CYP3A5 non-expressors had a 46.6% lower CL/F than expressors(Table 2), which is in line with multiple previous models. Additionally, CYP3A5 non-expressors had a 42.4% higher RC:PBMC than expressors, so the difference in PBMC concentrations between an expressor and a non-expressor is even greater than the difference in wholeblood concentrations (Figure 5D)\" RC:PBMC = ratio of tacrolimus whole blood to PBMCconcentration","sentence":"CYP3A5 *3/*3 is associated with increased concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157244,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"methadone","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.","sentence":"Allele C is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5051541","article_title":"Using EHR-Linked Biobank Data to Study Metformin Pharmacogenomics","article_path":"articles/PMC5051541.md","variant_annotation_id":1452725953,"variant_haplotypes":"rs3127602","gene":"SLC22A3","drugs":"metformin","pmid":25991289,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. \"For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome.\" Table 2 shows rs3127602 as top SNP for SLC22A3","sentence":"Allele T is associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC8553963","article_title":"Influence of Cytochrome P450 2C19 Genotype on Helicobacter pylori Proton Pump Inhibitor-Amoxicillin-Clarithromycin Eradication Therapy: A Meta-Analysis","article_path":"articles/PMC8553963.md","variant_annotation_id":1451581620,"variant_haplotypes":"CYP2C19 normal metabolizer genotype","gene":"CYP2C19","drugs":"amoxicillin, clarithromycin, rabeprazole","pmid":34721043,"phenotype_category":"Efficacy","significance":"no","notes":"\"In contrast, studies that used rabeprazole and esomeprazole showed no significant differences in the RR of failed eradication among the three genotypes\"","sentence":"CYP2C19 normal metabolizer is not associated with decreased clinical benefit to amoxicillin, clarithromycin and rabeprazole in people with Helicobacter Infections as compared to CYP2C19 poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Efficacy:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"poor metabolizer"} +{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340012,"variant_haplotypes":"CYP2C9*1, CYP2C9*6","gene":"CYP2C9","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, CYP2C9*6 allele is associated with 8.1mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"CYP2C9 *1/*6 is associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC11667419","article_title":"Dual single\u2011nucleotide polymorphism biomarker combination for opioid selection to treat cancer pain","article_path":"articles/PMC11667419.md","variant_annotation_id":1452798160,"variant_haplotypes":"rs17809012","gene":"CCL11","drugs":"morphine","pmid":39720462,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Patients of Group M with the major CCL11 rs17809012 genotype (AA) showed a significantly reduced \u2206NRS (P=0.006), suggesting that oxycodone should be preferred for patients with this genotype of CCL11 to obtain better pain relief. However, for the patients with the minor allele of the rs17809012 (AG/GG), morphine appeared to be a better choice, but this interaction was not statistically significant (P=0.358).\"","sentence":"Genotype AA is associated with decreased clinical benefit to morphine in people with Neoplasms and Pain as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms, Other:Pain","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3656883","article_title":"Novel Associations of VKORC1 Variants with Higher Acenocoumarol Requirements","article_path":"articles/PMC3656883.md","variant_annotation_id":1185002333,"variant_haplotypes":"rs17878544","gene":"VKORC1","drugs":"acenocoumarol","pmid":23691226,"phenotype_category":"Dosage","significance":"yes","notes":"14 vs 15 mg/week.","sentence":"Genotype TT is associated with decreased dose of acenocoumarol as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4490522","article_title":"Pharmacogenomics of Methotrexate Membrane Transport Pathway: Can Clinical Response to Methotrexate in Rheumatoid Arthritis Be Predicted?","article_path":"articles/PMC4490522.md","variant_annotation_id":1444843349,"variant_haplotypes":"rs11231809","gene":"SLC22A11","drugs":"methotrexate","pmid":26086825,"phenotype_category":"Efficacy","significance":"yes","notes":"SLC22A11 rs11231809 T carrier is associated with increased risk of non-response to methotrexate.","sentence":"Genotypes AT + TT are associated with decreased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotype AA.","alleles":"AT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC11244643","article_title":"ANO2 Genetic Variants and Anti-VEGF Treatment Response in Neovascular AMD: A Pharmacogenetic Substudy of VIEW 1 and VIEW 2","article_path":"articles/PMC11244643.md","variant_annotation_id":1452533923,"variant_haplotypes":"rs2110166","gene":"ANO2","drugs":"aflibercept, ranibizumab","pmid":38980270,"phenotype_category":"Efficacy","significance":"yes","notes":"\"In the pharmacogenetic study population, 50 patients had the rs2110166 TC genotype and 684 patients had the TT genotype; only one patient had the CC genotype.\" \"Further regional plot analysis (Fig. 2) identified the ANO2 rs2110166 SNP as highly significantly associated with losing \u22655 ETDRS letters during anti-VEGF therapy in nAMD (P = 1.99 \u00d7 10\u20138).\" \"Carriers of the ANO2 rs2110166 TT genotype showed a robust increase in visual acuity versus baseline compared with a small decrease in those with the TC genotype.\"","sentence":"Genotype TT is associated with increased clinical benefit to aflibercept or ranibizumab in people with Macular Degeneration as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC2950972","article_title":"Effects of Opioid Receptor Gene Variation on Targeted Nalmefene Treatment in Heavy Drinkers","article_path":"articles/PMC2950972.md","variant_annotation_id":1449161519,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"nalmefene","pmid":18537939,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to nalmefene in people with Alcoholism as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4613195","article_title":"Impact of Single Nucleotide Polymorphisms (SNPs) on Immunosuppressive Therapy in Lung Transplantation","article_path":"articles/PMC4613195.md","variant_annotation_id":1448100023,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"mycophenolic acid","pmid":26307985,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Concentrations measured as trough blood drug concentrations.","sentence":"Genotype AA is associated with decreased concentrations of mycophenolic acid in people with lung transplantation as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC7655626","article_title":"Pharmacogenetic Interactions of Rifapentine plus Isoniazid with Efavirenz or Nevirapine","article_path":"articles/PMC7655626.md","variant_annotation_id":1451308140,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"rifapentine","pmid":32815870,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"NAT2 slow acetylators had greater week 4 plasma concentrations of rifapentine (P = 2.6 \u00d7 10) and 25-desacetyl rifapentine (P = 7.0 \u00d7 10) among all participants, and in efavirenz and nevirapine subgroups.","sentence":"NAT2 slow acetylator is associated with increased concentrations of rifapentine in people with HIV Infections.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3370715","article_title":"Population Pharmacokinetic Analysis and Pharmacogenetics of Raltegravir in HIV-Positive and Healthy Individuals","article_path":"articles/PMC3370715.md","variant_annotation_id":1184997887,"variant_haplotypes":"UGT1A9*3a","gene":"UGT1A9","drugs":"raltegravir","pmid":22371894,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Out of ninety-six SNPs tested for their effect on bioavailability of raltegravir only rs72551330 (T>C) reached Bonferroni-corrected significance (set at 5.21 x 10^-4). The authors state that the effect of the SNP on raltegravir bioavailbility is mainly attributable to a single homozygous individual with very high raltegravir bioavialbility. The SNP could not be validated in a data set including 219 HIV positive patients and 19 healthy volunteers.","sentence":"UGT1A9 *3a is associated with increased exposure to raltegravir in people with HIV.","alleles":"*3a","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5606007","article_title":"Novel variants in NUDT15 and thiopurine intolerance in children with acute lymphoblastic leukemia from diverse ancestry","article_path":"articles/PMC5606007.md","variant_annotation_id":1448635132,"variant_haplotypes":"rs746071566","gene":"NUDT15","drugs":"mercaptopurine","pmid":28659275,"phenotype_category":"Dosage, Toxicity","significance":"not stated","notes":"The variant was in 3 patients at St Jude's. One patient tolerated 43.5 mg/m2/day of mercaptopurine during the maintenance phase, The second patient was treated on the TOT XIIIB protocol, for which maintenance therapy consisted of drug pairs administered in weekly rotation and mercaptopurine given for only 1 week every 4-week period but did not experience significant toxicity and tolerated dosage was 82.5 mg/m2/day for that week. In the 3rd patient, the variant was present along with rs116855232 C>T, and another variant with no rsID (K35E c.103A>G). Nucleotide diphosphotase activity could not be detected in in vitro studies.","sentence":"Allele del is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele GGAGTC.","alleles":"del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GGAGTC","comparison_metabolizer_types":null} +{"pmcid":"PMC5604731","article_title":"Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients","article_path":"articles/PMC5604731.md","variant_annotation_id":827863300,"variant_haplotypes":"rs2372536","gene":"ATIC","drugs":"methotrexate","pmid":22450926,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3880259","article_title":"Association of ABCC2 \u221224C>T Polymorphism with High-Dose Methotrexate Plasma Concentrations and Toxicities in Childhood Acute Lymphoblastic Leukemia","article_path":"articles/PMC3880259.md","variant_annotation_id":1184175525,"variant_haplotypes":"rs3740065","gene":"ABCC2","drugs":"methotrexate","pmid":24404132,"phenotype_category":"Metabolism/PK","significance":"no","notes":"All patients received four cycles of high dose MTX (5000mg per square meter of body surface area). 1/10th of the dose was administered over 30 minutes (rapid infusion) and the rest was administered continuously over 24hrs. Leucovorin rescue was administered every 6hrs starting 48 hrs after initiation of MTX infusion.","sentence":"Allele G is not associated with clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4169411","article_title":"Thymidylate Synthase Genotype-Directed Chemotherapy for Patients with Gastric and Gastroesophageal Junction Cancers","article_path":"articles/PMC4169411.md","variant_annotation_id":1184886917,"variant_haplotypes":"rs13181","gene":"ERCC2","drugs":"fluorouracil, leucovorin, oxaliplatin","pmid":25232828,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to fluorouracil, leucovorin and oxaliplatin in people with Esophageal Neoplasms and Stomach Neoplasms as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasm of esophagus, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC9468554","article_title":"Impact of the novel CYP2C:TG haplotype and CYP2B6 variants on sertraline exposure in a large patient population","article_path":"articles/PMC9468554.md","variant_annotation_id":1452027048,"variant_haplotypes":"rs2860840","gene":"CYP2C18","drugs":"sertraline","pmid":35668575,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Compared with the reference group (CYP2C19*1/*1), a lower sertraline serum concentration was observed in CYP2C19*17/*17 (21.6% decrease, n = 44, p = 0.003), CYP2C:TG/CYP2C:TG (rs2860840 and rs11188059 together; 21.2% decrease, n = 26, p = 0.022), CYP2C19*17/ CYP2C:TG (20.0% decrease, n = 65, p = 0.003), and CYP2C19*1/*17 (17.0% decrease, n = 150, p < 0.001) patients, while no significant impact of CYP2C19*1/ CYP2C:TG genotype was detected in this patient population (n = 142, p > 0.1).","sentence":"Genotype TT is associated with decreased concentrations of sertraline as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6510382","article_title":"VKORC1 and Novel CYP2C9 Variation Predict Warfarin Response in Alaska Native and American Indian People","article_path":"articles/PMC6510382.md","variant_annotation_id":1450370774,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":30821933,"phenotype_category":"Dosage","significance":"no","notes":"in Alaska Native and American Indian People.","sentence":"CYP2C9 *2 is not associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5590735","article_title":"Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin","article_path":"articles/PMC5590735.md","variant_annotation_id":1448994431,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"efavirenz","pmid":28886044,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This is stated in the paper, but supporting data is not shown.; Allele also known as CYP2B6*18.","sentence":"Allele C is not associated with concentrations of efavirenz in children with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680877,"variant_haplotypes":"rs3814057","gene":"NR1I2","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype AA is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4137828","article_title":"Relationship of CYP3A5 genotype and ABCB1 diplotype to tacrolimus disposition in Brazilian kidney transplant patients","article_path":"articles/PMC4137828.md","variant_annotation_id":1184470904,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"tacrolimus","pmid":24528196,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"3 - 12 months post-transplant. In multivariate linear regression analysis, the AAA/AAA haplotype (rs1045642, rs1128503, rs2032582) showed a significant effect on dose-adjusted trough concentrations (C0/D) of tacrolimus (those with the AAA/AAA haplotype have increased C0/D compared to those with non-AAA/AAA haplotypes). In chi-squared analyses, no significant association was seen for trough concentrations or dose. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype AA is associated with decreased clearance of tacrolimus in people with Kidney Transplantation as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767402,"variant_haplotypes":"rs2088514","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele G is not associated with trough concentration of vancomycin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC8373649","article_title":"SNPs in PRKG1 and SPATA13-AS1 are associated with bronchodilator response: A pilot study during acute asthma exacerbations in African American children","article_path":"articles/PMC8373649.md","variant_annotation_id":1451927500,"variant_haplotypes":"rs7903366","gene":null,"drugs":"salbutamol","pmid":33851947,"phenotype_category":"Efficacy","significance":"yes","notes":"rs7903366 was significantly negatively associated with having a high bronchodilator response category in an adjusted analysis. Risk allele not explicit stated in text only in table 1 summarizing prior studies.","sentence":"Allele T is associated with decreased response to salbutamol in children with Asthma as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4461653","article_title":"ST13 polymorphisms and their effect on exacerbations in steroid-treated asthmatic children and young adults","article_path":"articles/PMC4461653.md","variant_annotation_id":1447944114,"variant_haplotypes":"rs138335","gene":"ST13","drugs":"corticosteroids","pmid":25616159,"phenotype_category":"Efficacy","significance":"yes","notes":"Outcome measured was hospital visits for airway exacerbation. Effect is additive, measured per G allele.","sentence":"Allele G is associated with decreased response to corticosteroids in children with Asthma as compared to allele C.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4594699","article_title":"Population pharmacokinetic analysis of tacrolimus in Mexican paediatric renal transplant patients: role of CYP3A5 genotype and formulation","article_path":"articles/PMC4594699.md","variant_annotation_id":1444934203,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":25846845,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Population pharmacokinetic modeling. CYP3A5*1/*1 and *1/*3 carriers (CYP3A5 expressers) had approximately 2- and 1.5-fold higher clearance, respectively, as compared to CYP3A5*3/*3 carriers (CYP3A5 non-expressers). The authors also note that CYP3A5 genotype explained almost the entire inter-patient variability in clearance. Lastly, they note that individuals taking Limustin had significantly higher predicted doses of tacrolimus for all genotypes as compared to those taking Prograf (p<0.001).","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased clearance of tacrolimus in children with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC4735517","article_title":"Genome-Wide Meta-Analysis of Cotinine Levels in Cigarette Smokers Identifies Locus at 4q13.2","article_path":"articles/PMC4735517.md","variant_annotation_id":1447814229,"variant_haplotypes":"rs7170068","gene":"CHRNA3","drugs":"cotinine","pmid":26833182,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors conducted a GWAS meta-analysis to identify genetic variants associated with cotinine in current daily smokers (Caucasian). The following study cohorts were analyzed: ALSPAC, CARDIA, FinnTwin, Framingham, GenMets, MESA, NESDA, NTR, TwinsUK, YFS. This SNP was detected as a residual association after accounting for rs16969968.","sentence":"Allele A is associated with increased concentrations of cotinine in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5003027","article_title":"TSPAN5, ERICH3 and selective serotonin reuptake inhibitors in major depressive disorder: pharmacometabolomics-informed pharmacogenomics","article_path":"articles/PMC5003027.md","variant_annotation_id":1447979349,"variant_haplotypes":"rs11580409","gene":"ERICH3","drugs":"antidepressants, citalopram, escitalopram","pmid":26903268,"phenotype_category":"Efficacy","significance":"yes","notes":"This is one of SNP in a cluster (rs11580409 and rs11210490 and rs696692) that showed some association with plasma serotonin concentrations and was suspected to be associated with SSRI clinical response. Please note that the allele associated with clinical response was not specified in the paper. In a follow up paper (PMID: 33230203), the author stated that \"the rs11580409 variant allele (C) was significantly associated with better response\" and and demonstrated its association in another population of depressed patients (PReDICT) as well as its overall significance in a meta-analysis.","sentence":"Allele C is associated with increased response to antidepressants, citalopram and escitalopram in people with Depressive Disorder as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5678480","article_title":"Early Improvement and Marriage Are Determinants of the 12-Month Treatment Outcome of Paroxetine in Outpatients with Panic Disorder","article_path":"articles/PMC5678480.md","variant_annotation_id":1452054620,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"paroxetine","pmid":29073750,"phenotype_category":"Efficacy","significance":"no","notes":"The 5-HTTLPR was not associated with significant differences in early improvement in patients with panic disorder receiving paroxetine.","sentence":"SLC6A4 HTTLPR long form (L allele) is not associated with response to paroxetine in people with Panic Disorder as compared to SLC6A4 HTTLPR short form (S allele).","alleles":"HTTLPR long form (L allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Panic Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR short form (S allele)","comparison_metabolizer_types":null} +{"pmcid":"PMC4628029","article_title":"CYP3A5 and ABCB1 genotype influence tacrolimus and sirolimus pharmacokinetics in renal transplant recipients","article_path":"articles/PMC4628029.md","variant_annotation_id":1447520853,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"sirolimus, tacrolimus","pmid":26543771,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No associations with tacrolimus or sirolimus pharmacokinetic parameters were seen for this SNP. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with metabolism of sirolimus or tacrolimus in people with Kidney Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4209173","article_title":"Pharmacogenetics of warfarin in a paediatric population: Time in therapeutic range, initial and stable dosing, and adverse effects","article_path":"articles/PMC4209173.md","variant_annotation_id":1184473580,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":25001883,"phenotype_category":"Dosage","significance":"yes","notes":"with an approximate decrease of daily dose of 0.66mg.","sentence":"Allele T is associated with decreased dose of warfarin in children as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3786668","article_title":"Human Polymorphisms in the Glutathione Transferase Zeta 1/Maleylacetoacetate Isomerase Gene Influence the Toxicokinetics of Dichloroacetate","article_path":"articles/PMC3786668.md","variant_annotation_id":827786987,"variant_haplotypes":"rs1046428","gene":"GSTZ1, POMT2","drugs":"dichloroacetic acid","pmid":21642471,"phenotype_category":"Other, Metabolism/PK","significance":"yes","notes":"The statement above is meant for a haplotype rather than for the allele. For the various possible haplotype combinations involving rs7975,rs7972,rs1046428, the most rapid clearance was observed for subjects having at least one \"wild-type\" allele (G for rs7975,G for rs7972, C for rs1046428. Rate was 2.2 +/- 0.7 vs 0.73 +/- 0.84 mL/min, and the very highest rate was seen in homozygous \"wild-type\".","sentence":"Allele C is associated with increased clearance of dichloroacetic acid in healthy individuals.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166351,"variant_haplotypes":"rs1061115","gene":"PYROXD2","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele G is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472416,"variant_haplotypes":"rs61742245","gene":"VKORC1","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"no","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"Allele A is not associated with dose of warfarin as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5563830","article_title":"Association of ABCB1 Gene Polymorphisms with Efficacy and Adverse Reaction to Risperidone or Paliperidone in Han Chinese Schizophrenic Patients","article_path":"articles/PMC5563830.md","variant_annotation_id":1448604042,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"risperidone","pmid":27456824,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles given as reverse strand C and T. Efficacy measured with reduction in PANSS total score reduced rate.","sentence":"Genotypes AG + GG are not associated with response to risperidone in people with Schizophrenia as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC11887348","article_title":"CYP2D6 polymorphisms and endoxifen concentration in Chinese patients with breast cancer","article_path":"articles/PMC11887348.md","variant_annotation_id":1452872682,"variant_haplotypes":"CYP2D6 normal metabolizer","gene":"CYP2D6","drugs":"endoxifen","pmid":40050768,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Endoxifen concentration was not significantly different among different AS groups (p\u2009=\u20090.106)...And the median endoxifen concentration was higher in CYP2D6 phenotype NM (18ng/ml, 95%CI 18\u201324 ng/ml) than in IM (13ng/ml, 95%CI 13\u201318 ng/ml, p\u2009=\u20090.0077, Fig. 2). A similar situation was found with MRE/Tam (p\u2009<\u20090.0001).\"","sentence":"CYP2D6 normal metabolizer is associated with increased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 intermediate metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer"} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449002987,"variant_haplotypes":"rs1131596","gene":"SLC19A1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"no","notes":"Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele G is not associated with response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982037995,"variant_haplotypes":"rs662799","gene":"APOA5","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.","sentence":"Genotypes AG + GG are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4115247","article_title":"GENETIC VARIATION IN CYP4A11 AND BLOOD PRESSURE RESPONSE TO MINERALOCORTICOID RECEPTOR ANTAGONISM OR ENAC INHIBITION: AN EXPLORATORY PILOT STUDY IN AFRICAN AMERICANS","article_path":"articles/PMC4115247.md","variant_annotation_id":1450821112,"variant_haplotypes":"rs3890011","gene":"CYP4A11","drugs":"amiloride","pmid":25064769,"phenotype_category":"Efficacy","significance":"no","notes":"This variant was in complete disequilibrium with rs1126742. Alleles are reported as described in the paper however, because this is a G/C SNP, users should be aware that there is ambiguity as to whether the alleles are reported as on the positive strand. Patients in all genotype groups showed a similar reduction in systolic and diastolic blood pressure with amiloride treatment.","sentence":"Allele C is not associated with response to amiloride in people with Hypertension as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934431,"variant_haplotypes":"rs28935195","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the T allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Ala156Thr in the paper.","sentence":"Allele T is associated with increased response to migalastat in people with Fabry Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359472,"variant_haplotypes":"rs1611114","gene":"DBH","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of methadone in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729440,"variant_haplotypes":"rs141257984","gene":"UGT2B7","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotype GT is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype TT.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5505550","article_title":"Efficacy of piroxicam for postoperative pain after lower third molar surgery associated with CYP2C8*3 and CYP2C9","article_path":"articles/PMC5505550.md","variant_annotation_id":1448820088,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"piroxicam","pmid":28740425,"phenotype_category":"Efficacy","significance":"not stated","notes":"Subjects had at least one impacted lower third molar extracted. Measurements were taken of 1) postoperative mouth opening (millimeters) was measured pre- and post-op on days 2 & 7 2) and swelling measurements due to edema were recorded and 3) subjective measures of pain. None were associated with the genotype.","sentence":"Allele C is not associated with response to piroxicam as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163265,"variant_haplotypes":"rs7311358","gene":"SLCO1B3","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. Authors described association as suggestive in the AA population but it did not survive multiple testing correction and the authors did not state which allele was the associated allele.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436907,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4368615","article_title":"The CYP19 RS4646 Polymorphism IS Related to the Prognosis of Stage I\u2013II and Operable Stage III Breast Cancer","article_path":"articles/PMC4368615.md","variant_annotation_id":1444702613,"variant_haplotypes":"rs4646","gene":"CYP19A1","drugs":"anastrozole, letrozole, tamoxifen","pmid":25793413,"phenotype_category":"Efficacy","significance":"yes","notes":"Median follow up time was 96 months and the association was with disease free survival (DFS). Overall there was no difference in DFS by genotype, however when women were split into the pre-menopausal and post-menopausal group, an association was seen between the AA genotype and DFS, but in opposite directions. The AA genotype was associated with shorter DFS in the post-menopausal women and longer DFS in the pre-menopausal women when compared to the AC and CC genotypes (13.7 months in post-menopausal AA women, and 56.3 months in post-menopausal AC+CC women). Chemotherapy included Cyclophosphamide, Doxorubicin/epirubicin and Fluoracil or Doxorubicin, Cyclophosphamide with/without docetaxel, Cyclophosphamide, Epirubicin or Doxorubicin, Cyclophosphamide followed by Docetaxel or weekly Paclitaxel, CAF (Cyclophosphamide, Doxorubicin/Epirubicin and Fluoracil) followed by Docetaxel or weekly Paclitaxel treatment and others, 10 (2.5%) remained unknown.","sentence":"Genotype AA is associated with decreased response to anastrozole, letrozole or tamoxifen in women with Breast Neoplasms and Menopause as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479707,"variant_haplotypes":"rs472660","gene":"CYP3A43","drugs":"ziprasidone","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with increased clearance of ziprasidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4345005","article_title":"Effects of GRK5 and ADRB1 polymorphisms influence on systolic heart failure","article_path":"articles/PMC4345005.md","variant_annotation_id":1451843594,"variant_haplotypes":"rs1801253","gene":"ADRB1","drugs":"Beta Blocking Agents","pmid":25638254,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients with systolic heart failure with the rs1801253 CC and CG genotypes show better response to beta-blockers than patients with the GG genotype as measured by systolic heart failure morbidity. The authors measured association of each genotype individually with drug response.","sentence":"Genotype GG is associated with decreased response to Beta Blocking Agents in people with Heart Failure as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} +{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1448613474,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with normalized dose when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together.","sentence":"Allele G is not associated with dose of selumetinib in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6980920","article_title":"Early Tacrolimus Concentrations After Lung Transplant are Predicted by Combined Clinical and Genetic Factors and Associated with Acute Kidney Injury","article_path":"articles/PMC6980920.md","variant_annotation_id":1451118280,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":31513279,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The CYP3A4*22 loss of function allele was associated with a 14.6% increase in CDR, but this estimate was nonsignificant.","sentence":"CYP3A4 *22 is associated with decreased metabolism of tacrolimus in people with lung transplantation as compared to CYP3A4 *1/*1.","alleles":"*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC11102648","article_title":"The pharmacokinetics and pharmacodynamics of ibogaine in opioid use disorder patients","article_path":"articles/PMC11102648.md","variant_annotation_id":1452427680,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"ibogaine","pmid":38519421,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"As expected, the clearance of ibogaine to noribogaine was significantly (p < 0.0001) associated with the CYP2D6 AS, shown in Figure 2. The basic clearance (at an AS of 0) of ibogaine was estimated to be 0.82 L/h, but this increased to 30.7 L/h for every point of AS (Figure 2 and Supplemental Material). \"","sentence":"CYP2D6 poor metabolizer is associated with decreased clearance of ibogaine in people with Opioid-Related Disorders as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC2291379","article_title":"Influence of the CYP2D6*4 polymorphism on dose, switching and discontinuation of antidepressants","article_path":"articles/PMC2291379.md","variant_annotation_id":1451288740,"variant_haplotypes":"CYP2D6*1, CYP2D6*4","gene":"CYP2D6","drugs":"Selective serotonin reuptake inhibitors","pmid":18070221,"phenotype_category":"Dosage","significance":"yes","notes":"(*4*4 vs. *1*1; this SNP was the only SNP assayed and this method could not detect *5.) SSRIs were grouped together for this analysis (32.5 % of patients were taking paroxetine; 13.4% fluvoxamine;11.6% fluoxetine; 7.3% sertraline;4.6% citalopram;0.1% escitalopram. Mean SSRI dose was significantly lower at the 3rd prescription (difference 0.17 DDD) but not significant for the following prescriptions. Genotypes were not in Hardy-Weinberg equilibrium; frequency below is for a larger population that included patients treated with other antidepressants.","sentence":"CYP2D6 *4/*4 is associated with decreased dose of Selective serotonin reuptake inhibitors in people with Depression as compared to CYP2D6 *1/*1.","alleles":"*4/*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6742943","article_title":"Genomic Association Analysis Reveals Variants Associated With Blood Pressure Response to Beta\u2010Blockers in European Americans","article_path":"articles/PMC6742943.md","variant_annotation_id":1451106140,"variant_haplotypes":"rs294610","gene":null,"drugs":"atenolol, metoprolol","pmid":31033190,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele was associated with a greater decrease in diastolic blood pressure in patients receiving metoprolol monotherapy (discovery cohort) or atenolol monotherapy (replication cohort). Note that this SNP reached a level of suggestive significance but not genome-wide significance in the discovery cohort.","sentence":"Allele A is associated with increased response to atenolol or metoprolol in people with Hypertension as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5818817","article_title":"Effect of Genotype-Guided Warfarin Dosing on Clinical Events and Anticoagulation Control Among Patients Undergoing Hip or Knee Arthroplasty: The GIFT Randomized Clinical Trial","article_path":"articles/PMC5818817.md","variant_annotation_id":1449269199,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"warfarin","pmid":28973620,"phenotype_category":"Dosage","significance":"not stated","notes":null,"sentence":"Allele T is associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4762905","article_title":"Polymorphisms in the ABCB1 gene and effect on outcome and toxicity in childhood acute lymphoblastic leukemia","article_path":"articles/PMC4762905.md","variant_annotation_id":1445297172,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"doxorubicin, methotrexate, prednisolone, vincristine","pmid":25582575,"phenotype_category":"Efficacy","significance":"yes","notes":"The risk of relapse was reduced for those with the AA genotype as compared to those with the GG genotype. Multivariate analysis adjusted for risk, immunophenotype, protocol and gender. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype AA is associated with decreased resistance to doxorubicin, methotrexate, prednisolone and vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"resistance to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} diff --git a/data/val.jsonl b/data/val.jsonl new file mode 100644 index 0000000..e33fb5e --- /dev/null +++ b/data/val.jsonl @@ -0,0 +1,451 @@ +{"pmcid":"PMC4038024","article_title":"CYP3A5 Gene Variation Influences both Systemic and Intrarenal Tacrolimus Disposition","article_path":"articles/PMC4038024.md","variant_annotation_id":1183690042,"variant_haplotypes":"CYP3A5*1, CYP3A5*7","gene":"CYP3A5","drugs":"tacrolimus","pmid":23073208,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Healthy individuals with the CYP3A5 *1/*1 or *1/*7 (rs41303343) genotype had 1.6-fold higher oral tacrolimus clearance and 2.0 - 2.7-fold higher metabolite/parent area under the curve (AUC) ratios for 31-desmethyl tacrolimus (31-DMT), 12-hydroxytacrolimus, and 13-desmethyl tacrolimus (13-DMT), as compared to individuals with the *7/*7 genotype. Subjects who carry two copies of loss-of-function CYP3A5 alleles (CYP3A5*3/rs776746, CYP3A5*6/rs10264272 or CYP3A5*7) were pooled together as CYP3A5 non-expressors for this analysis. CYP3A5 *1 allele carriers were pooled togethers as CYP3A5 expressors.","sentence":"CYP3A5 *1/*1 + *1/*7 is associated with increased clearance of tacrolimus in healthy individuals as compared to CYP3A5 *7/*7.","alleles":"*1/*1 + *1/*7","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*7/*7","comparison_metabolizer_types":null} +{"pmcid":"PMC4868001","article_title":"Frequencies of CYP2C9 polymorphisms in North Indian population and their association with drug levels in children on phenytoin monotherapy","article_path":"articles/PMC4868001.md","variant_annotation_id":1449565855,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"phenytoin","pmid":27179628,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2C9 *1/*3 + *2/*3 are not associated with dose of phenytoin in children with as compared to CYP2C9 *1/*1 + *1/*2.","alleles":"*1/*3 + *2/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC6092108","article_title":"SLCO1B1 genetic variation and hormone therapy in menopausal women","article_path":"articles/PMC6092108.md","variant_annotation_id":1449311424,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"conjugated estrogens","pmid":29738412,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT is associated with decreased concentrations of conjugated estrogens in women with Menopause as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Menopause","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449715987,"variant_haplotypes":"rs1982235","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6510382","article_title":"VKORC1 and Novel CYP2C9 Variation Predict Warfarin Response in Alaska Native and American Indian People","article_path":"articles/PMC6510382.md","variant_annotation_id":1450370810,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":30821933,"phenotype_category":"Dosage","significance":"no","notes":"in Alaska Native and American Indian People.","sentence":"Allele T is not associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3992925","article_title":"IL-4 receptor polymorphisms predict reduction in asthma exacerbations during response to an anti\u2013IL-4 receptor \u03b1 antagonist","article_path":"articles/PMC3992925.md","variant_annotation_id":981477242,"variant_haplotypes":"rs8832","gene":"IL4R","drugs":"pitrakinra","pmid":22541248,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the GG genotype have a reduced frequency of asthma exacerbations and nocturnal awakenings compared to those with the AA + AG genotypes. There is a significant dose-response relationship for both of these phenotypes in subjects with the GG genotype.","sentence":"Genotype GG is associated with increased response to pitrakinra in people with Asthma as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3667657","article_title":"Plasma Letrozole Concentrations in Postmenopausal Women With Breast Cancer Are Associated With CYP2A6 Genetic Variants, Body Mass Index, and Age","article_path":"articles/PMC3667657.md","variant_annotation_id":827864375,"variant_haplotypes":"CYP2A6*1, CYP2A6*2, CYP2A6*4, CYP2A6*9, CYP2A6*12, CYP2A6*17, CYP2A6*20, CYP2A6*23, CYP2A6*35","gene":"CYP2A6","drugs":"letrozole","pmid":21975350,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients were grouped into normal (n = 200; *1/*1), intermediate (IM) (n = 40; *1/*9 and *1/*12), and slow (n = 21; *1/26, *1/35, *20/*23, *9/*9, *1/*4E, *1/*2, *17/*17, *1/*17, *17/*35, *2/*9, *9/*12) metabolizer groups. P-value given here is for slow or intermediate metabolizers compared normal metabolizers [stat_test: kruskal-wallis post hoc test]. CYP2A6*1/*26 and CYP2A6*1/*35 genotypes was consistent with normal metabolizers of letrozole rather than slow metabolizers. CYP2A6*12 was associated more with slow metabolizers than with intermediate metabolizers. CYP2A6*1/*26 and CYP2A6*1/*35(n = 1 each) were excluded from the analysis and CYP2A6*1/*12 (n = 11) were analyzed on the assumption that they related to slow metabolizers, which strengthened the analysis. Please note that this paper originally identified the *4E allele, which has been reassigned to *4 by PharmVar.","sentence":"CYP2A6 *1/*17 + *20/*23 + *9/*9 + *1/*4 + *1/*2 + *17/*17 + *17/*35 + *2/*9 + *9/*12 + *1/*9 + *1/*12 are associated with decreased clearance of letrozole in women with Breast Neoplasms as compared to CYP2A6 *1/*1.","alleles":"*1/*17 + *20/*23 + *9/*9 + *1/*4 + *1/*2 + *17/*17 + *17/*35 + *2/*9 + *9/*12 + *1/*9 + *1/*12","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4038024","article_title":"CYP3A5 Gene Variation Influences both Systemic and Intrarenal Tacrolimus Disposition","article_path":"articles/PMC4038024.md","variant_annotation_id":1183690054,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":23073208,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients who carried the T allele (CYP3A5 *1) had increased renal metabolism of tacrolimus and lower apparent urinary tacrolimus clearance as compared to CC (*3/*3) homozygotes. Decreased accumulation of tacrolimus in the tubular epithelium in carriers of the *1 allele as compared to *3/*3 homozygotes may contribute to interindividual differences in tacrolimus-induced nephrotoxicity. Subjects who carried two copies of a loss-of-function CYP3A5 allele (CYP3A5 *3, *6/rs10264272, *7/rs41303343) were pooled together as CYP3A5 non-expressers for the analysis; CYP3A5 *1 allele carriers were pooled together as CYP3A5 expressers.","sentence":"Genotypes CT + TT is associated with increased metabolism of tacrolimus in healthy individuals as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003369,"variant_haplotypes":"rs1131596","gene":"SLC19A1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There is no association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: AG+GG 0.41 (0.09\u201334.05)) vs. AA (0.6 (0.14\u201341.63)). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotypes AG + GG are not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451667320,"variant_haplotypes":"rs28399454","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand. This is the defining allele of the CYP2A6*17 allele.","sentence":"Allele T is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4366347","article_title":"Genetic Variation of the Mu Opioid Receptor (OPRM1) and Dopamine D2 Receptor (DRD2) is Related to Smoking Differences in Patients with Schizophrenia but not Bipolar Disorder","article_path":"articles/PMC4366347.md","variant_annotation_id":1450826733,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"nicotine","pmid":28548579,"phenotype_category":"Other","significance":"no","notes":"Subgroup analysis of bipolar disorder patients only found no significant difference in number of cigarettes smoked per day between genotype groups.","sentence":"Genotypes AG + GG are not associated with exposure to nicotine in people with Bipolar Disorder as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4833149","article_title":"The pharmacokinetic and pharmacodynamic interaction of clopidogrel and cilostazol in relation to CYP2C19 and CYP3A5 genotypes","article_path":"articles/PMC4833149.md","variant_annotation_id":1446906094,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"clopidogrel","pmid":26426352,"phenotype_category":"Metabolism/PK","significance":"no","notes":"either when clopidogrel is administered alone or in combination with cilostazole. The authors observed no differences in AUC (ng*hr/ml) or Cmax (ng/ml) values of clopidogrel thiol metabolite when comparing between CYP3A5 genotype groups. The differences in concentrations of clopidogrel thiol metabolite AUC, or Cmax between the CYP3A5 *1/*3 and CYP3A5 *3/*3 was not significant either when clopidogrel was administered alone or in combiation with cilostazole.","sentence":"CYP3A5 *1/*3 (assigned as intermediate metabolizer phenotype) is not associated with metabolism of clopidogrel in healthy individuals as compared to CYP3A5 *3/*3 (assigned as poor metabolizer phenotype) .","alleles":"*1/*3","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":"poor metabolizer"} +{"pmcid":"PMC2966433","article_title":"IL28B SNP rs8099917 Is Strongly Associated with Pegylated Interferon-\u03b1 and Ribavirin Therapy Treatment Failure in HCV/HIV-1 Coinfected Patients","article_path":"articles/PMC2966433.md","variant_annotation_id":981481540,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":21048934,"phenotype_category":"Efficacy","significance":"yes","notes":"The type of peginterferon alfa was not specified. The patients were co-infected with HIV-1. An association with SVR (sustained viral response) at 24 weeks was found in HCV genotype 1-infected patients, but not in genotype 3-infected patients.","sentence":"Genotype TT is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in Hepatitis C, Chronic as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC6542686","article_title":"Breast milk pharmacokinetics of efavirenz and breastfed infants\u2019 exposure in genetically-defined subgroups of mother-infant pairs: an observational study","article_path":"articles/PMC6542686.md","variant_annotation_id":1448997209,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":25882300,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP2B6 516G>T was independently associated with efavirenz concentrations in maternal plasma, breast milk, and infant plasma.","sentence":"Genotypes GT + TT are associated with increased concentrations of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11059713","article_title":"Therapeutic efficacy of generic artemether\u2013lumefantrine in the treatment of uncomplicated malaria in Ghana: assessing anti-malarial efficacy amidst pharmacogenetic variations","article_path":"articles/PMC11059713.md","variant_annotation_id":1452466220,"variant_haplotypes":"CYP3A5*1, CYP3A5*3, CYP3A5*6, CYP3A5*7","gene":"CYP3A5","drugs":"artemether, dihydroartemisinin","pmid":38685044,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"Fig 3. Plasma drug concentration of artemether and dihydroartemisinin and CYP2B6 and CYP3A5 expressors. C There were no observed significant differences. D There were no observed significant differences\"","sentence":"CYP3A5 *1/*3 + *1/*6 + *1/*7 is not associated with decreased concentrations of artemether or dihydroartemisinin in people with Malaria, Falciparum as compared to CYP3A5 *1/*1.","alleles":"*1/*3 + *1/*6 + *1/*7","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Malaria, Falciparum","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC7999651","article_title":"SLCO1B1 Phenotype and CYP3A5 Polymorphism Significantly Affect Atorvastatin Bioavailability","article_path":"articles/PMC7999651.md","variant_annotation_id":1451448741,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*5","gene":"SLCO1B1","drugs":"atorvastatin","pmid":33805706,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Carriers of the SLCO1B1 decreased function (DF) and poor function (PF) phenotypes (*1/*5 and *5/*5) were related to higher AUC/DW, Cmax/DW and to lower Vd/F and Cl/F compared to carriers of the normal function (NF) phenotype (*1/*1).","sentence":"SLCO1B1 *1/*5 + *5/*5 are associated with increased concentrations of atorvastatin in healthy individuals as compared to SLCO1B1 *1/*1.","alleles":"*1/*5 + *5/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC1237155","article_title":"A Prospective, Randomized Pilot Trial of Model-Based Warfarin Dose Initiation using CYP2C9 Genotype and Clinical Data","article_path":"articles/PMC1237155.md","variant_annotation_id":1183701549,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":16160068,"phenotype_category":"Dosage","significance":"no","notes":"This was a pilot study to compare traditional and PGx-guided dosing.","sentence":"CYP2C9 *2 is associated with decreased dose of warfarin as compared to CYP2C9 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238738,"variant_haplotypes":"rs35793","gene":"KCNMA1","drugs":"quetiapine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. Please note: reported allele was C, this has been complemented to the plus chromosomal strand. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele G is associated with response to quetiapine in people with Schizophrenia.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678334,"variant_haplotypes":"rs2234922","gene":"EPHX1","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was no association between dose (mean daily, or mean maintenance) with the genotype.","sentence":"Genotype GG is not associated with dose of carbamazepine in people with Epilepsy as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166122,"variant_haplotypes":"rs751655","gene":"OPCML","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566688,"variant_haplotypes":"rs283411","gene":"ADH1C","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this snp is NOT significant after Bonferroni correction (<0.00049). Also, the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele A is associated with metabolism of ethanol.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3617060","article_title":"The ability of plasma cotinine to predict nicotine and carcinogen exposure is altered by differences in CYP2A6: the influence of genetics, race and sex","article_path":"articles/PMC3617060.md","variant_annotation_id":1452644920,"variant_haplotypes":"CYP2A6 low activity","gene":"CYP2A6","drugs":"cotinine","pmid":23371292,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In people with slower relative to faster CYP2A6 activity, cotinine accumulates resulting in substantial differences in cotinine levels for a given tobacco exposure. Reduced metabolizers were defined as subjects with one or two copies of *2,*4, *7,*9,*10,*12,*17,*35.","sentence":"CYP2A6 low activity is associated with increased metabolism of cotinine in people with Tobacco Use Disorder as compared to CYP2A6 high activity.","alleles":null,"specialty_population":null,"metabolizer_types":"low activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"high activity"} +{"pmcid":"PMC9820795","article_title":"The MAOA rs979605 Genetic Polymorphism Is Differentially Associated with Clinical Improvement Following Antidepressant Treatment between Male and Female Depressed Patients","article_path":"articles/PMC9820795.md","variant_annotation_id":1451987740,"variant_haplotypes":"rs1799836","gene":"MAOB","drugs":"5-hydroxyindole-3-acetic acid, serotonin","pmid":36613935,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"TT/T females/males had a significantly higher 5HIAA/5HT ratio (2.79 \u00b1 0.27) compared to CC/C females/males (2.18 \u00b1 0.28) following Bonferroni correction\"","sentence":"Genotype TT is associated with increased concentrations of 5-hydroxyindole-3-acetic acid and serotonin in women with Depressive Disorder, Major as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6357964","article_title":"UGT1A1 Genotype-Dependent Dose Adjustment of Belinostat in Patients With Advanced Cancers Using Population Pharmacokinetic Modeling and Simulation","article_path":"articles/PMC6357964.md","variant_annotation_id":1448260935,"variant_haplotypes":"UGT1A1*1, UGT1A1*28, UGT1A1*60","gene":"UGT1A1","drugs":"belinostat","pmid":26637161,"phenotype_category":"Dosage","significance":"not stated","notes":"Simulated doses of 600 or 400 mg/m2/24h were given to patients with the *1/*1 + *1/*28 and *28/*28 + *1/*60 + *60/*60 genotypes, respectively, in order to provide equivalent belinostat AUCs.","sentence":"UGT1A1 *28/*28 + *1/*60 + *60/*60 are associated with decreased dose of belinostat in people with Neoplasms as compared to UGT1A1 *1/*1 + *1/*28.","alleles":"*28/*28 + *1/*60 + *60/*60","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*28","comparison_metabolizer_types":null} +{"pmcid":"PMC9031832","article_title":"Influence of COMT (rs4680) and DRD2 (rs1076560, rs1800497) Gene Polymorphisms on Safety and Efficacy of Methylphenidate Treatment in Children with Fetal Alcohol Spectrum Disorders","article_path":"articles/PMC9031832.md","variant_annotation_id":1451769140,"variant_haplotypes":"rs1076560","gene":"DRD2","drugs":"methylphenidate","pmid":35457347,"phenotype_category":"Efficacy","significance":"no","notes":"\"No association of the studied polymorphisms: DRD2 rs1076560:C > A or DRD2 rs1800497:G > A with the efficacy or safety of MPH treatment was observed\"","sentence":"Allele A is not associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity and Fetal Alcohol Syndrome as compared to allele C.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Attention Deficit Disorder with Hyperactivity, Other:Fetal Alcohol Syndrome","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3468617","article_title":"Combinatorial Pharmacogenetic Interactions of Bucindolol and \u03b21, \u03b12C Adrenergic Receptor Polymorphisms","article_path":"articles/PMC3468617.md","variant_annotation_id":982046373,"variant_haplotypes":"rs61767072","gene":"ADRA2C","drugs":"bucindolol","pmid":23071495,"phenotype_category":"Efficacy","significance":"yes","notes":"This study was interested in the effect of this SNP in tandem with rs1801253. The effect of this SNP was secondary to that of rs1801253 such that variants of this SNP did not affect patient outcome unless the patient was a variant carrier for rs1801253. Patients homozygous for the Arg amino acid at rs1801253 showed significantly less occurrences of all cause mortality, cardiac transplant, or heart failure hospitalizations as compared to other patients. Patients carrying the Gly amino acid at rs1801253 but were homozygous for the wildtype allele at this SNP responded worse than those that were homozygous for wildtype allele at rs1801253, but much better than patients carrying the variant allele at both SNPs. Patients carrying the variant allele at both SNPs and were treated with bucindolol had worse outcomes than those that were given a placebo.","sentence":"Genotype GGGGCGGGGCCG/GGGGCGGGGCCG is associated with increased response to bucindolol in people with Heart Failure as compared to genotypes GGGGCGGGGCCG/del + del/del.","alleles":"GGGGCGGGGCCG/GGGGCGGGGCCG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GGGGCGGGGCCG/del + del/del","comparison_metabolizer_types":null} +{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703625,"variant_haplotypes":"rs9915451","gene":"ANKFN1","drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in systolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele G is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC8673616","article_title":"Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences","article_path":"articles/PMC8673616.md","variant_annotation_id":1451679140,"variant_haplotypes":"rs73568641","gene":null,"drugs":"methadone","pmid":34910759,"phenotype_category":"Efficacy","significance":"no","notes":"The C allele was associated with reduced odds of continued opioid use in female patients undergoing MMT. However, this was not significant. No association was found in male patients. The significance threshold was set at p<0.017. This SNP is described in the paper as an OPRM1 SNP.","sentence":"Allele C is associated with increased response to methadone in women with Opioid-Related Disorders as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930590,"variant_haplotypes":"rs3743075","gene":"CHRNA3","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele T is not associated with exposure to nicotine in men as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436520,"variant_haplotypes":"rs3742106","gene":"ABCC4","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Based on available allele frequency data, it is assumed that the paper compares the A and C alleles.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC10163902","article_title":"MTHFR and MTRR Genetic Polymorphism of Methotrexate Therapy Outcomes in Early Rheumatoid Arthritis","article_path":"articles/PMC10163902.md","variant_annotation_id":1452100020,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"methotrexate","pmid":37159804,"phenotype_category":"Efficacy","significance":"no","notes":"alleles complemented to plus chromosomal strand. Response measured by ESR, erythrocyte sedimentation rate; TJC, tender joints counts; SJC, swollen joints counts; DAS28, Disease Activity Score in 28 joints. \"DAS28 was decreased after the post-treatment in 677TT and 1298AC, but was not statistically significant.\"","sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157158,"variant_haplotypes":"rs10753331","gene":null,"drugs":"buprenorphine","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.","sentence":"Allele A is not associated with response to buprenorphine in people with Opioid-Related Disorders as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11720188","article_title":"Effect of Genetic Variants on Rosuvastatin Pharmacokinetics in Healthy Volunteers: Involvement of ABCG2, SLCO1B1 and NAT2","article_path":"articles/PMC11720188.md","variant_annotation_id":1452808368,"variant_haplotypes":"TPMT intermediate metabolizer","gene":"TPMT","drugs":"rosuvastatin","pmid":39796117,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"For TPMT enzyme, a significant decrease in AUC\u221e/DW (p = 0.031), AUC72h/DW (p = 0.029, pmv = 0.049, \u03b2 = \u22120.267, R2 = 0.302) and Cmax/DW (p = 0.004; pmv = 0.011, \u03b2=\u22120.382, R2 = 0.292) parameters was observed when subjects were intermediate metabolizers (IM) in comparison to normal metabolizers (NM) (Table 3)\" Authors reference CPIc and Dutch guidelines but do not specify which variants were measured.","sentence":"TPMT intermediate metabolizer is associated with decreased dose-adjusted trough concentrations of rosuvastatin in healthy individuals as compared to TPMT normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1450950867,"variant_haplotypes":"rs1801265","gene":"DPYD","drugs":"FOLFIRI, FOLFOX, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate, overall survival or time to progression in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01.","sentence":"Genotypes AG + GG is not associated with response to FOLFIRI, FOLFOX, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC9931738","article_title":"Analysis of CYP2C19 gene polymorphism and influencing factors of pharmacological response of clopidogrel in patients with cerebral infarction in Zhejiang, China","article_path":"articles/PMC9931738.md","variant_annotation_id":1452023900,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"clopidogrel","pmid":36818341,"phenotype_category":"Efficacy","significance":"yes","notes":"this was greater for the *2/*2+*2/*3 than *1/*2+*1/*3. Two patients with *17 (one was *2/*17 and other was *3/*17) were excluded from analysis.","sentence":"CYP2C19 *1/*2 + *1/*3 + *2/*2 + *2/*3 is associated with increased resistance to clopidogrel in people with Stroke as compared to CYP2C19 *1/*1.","alleles":"*1/*2 + *1/*3 + *2/*2 + *2/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Stroke","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170862,"variant_haplotypes":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2D6","drugs":"4-hydroxytamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of 4-hydroxytamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC11310823","article_title":"Pharmacogenetic Variants and Plasma Concentrations of Antiseizure Drugs: A Systematic Review and Meta-Analysis","article_path":"articles/PMC11310823.md","variant_annotation_id":1452563863,"variant_haplotypes":"CYP2C19 intermediate metabolizer","gene":"CYP2C19","drugs":"valproic acid","pmid":39115847,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Compared with the respective normal metabolizers, we observed increased valproate plasma concentrations in CYP2C9 intermediate metabolizers (12% [95% CI, 4%-20%]), CYP2C19 intermediate metabolizers (12% [95% CI, 2%-24%]) and CYP2C19 poor metabolizers (20% [95% CI, 2%-41%]) (Table 3).\" \"Abolished activity: CYP2C19*2: rs1799853 or CYP2C19*3: rs1057910\"","sentence":"CYP2C19 intermediate metabolizer and poor metabolizer is associated with increased concentrations of valproic acid as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3071070","article_title":"Association of Pharmacogenetic Markers with Premature Discontinuation of First-line Anti-HIV Therapy: An Observational Cohort Study","article_path":"articles/PMC3071070.md","variant_annotation_id":1451164140,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"atazanavir / ritonavir","pmid":21288825,"phenotype_category":"Toxicity","significance":"yes","notes":"Atazanavir boosted with ritonavir. Treatment discontinuation in the first year was investigated. The drug discontinuation was mainly due to drug toxicity. Carriers of the UGT1A1 *28/*28 (TA)7/(TA)7 and UGT1A1 *28/*37 (TA)7(TA)8 (homozygous decreased function) experience more drug discontinuation due to toxicity (not further specified) than *1/*28 and *1/*1 carriers (p=0.004). 2 of 3 individuals homozygous for the UGT1A1 *28 discontinued atazanavir in the present study (although hyperbilirubinemia was not listed as the cause but \"drug toxicity\" often was).","sentence":"UGT1A1 *28/*28 is associated with increased discontinuation of atazanavir / ritonavir in people with HIV Infections as compared to UGT1A1 *1/*1.","alleles":"*28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3658129","article_title":"Neurotrophic Tyrosine Kinase Receptor Type 2 (NTRK2) Gene Associated with Treatment Response to Mood Stabilizers in Patients with Bipolar I Disorder","article_path":"articles/PMC3658129.md","variant_annotation_id":981954215,"variant_haplotypes":"rs2769605","gene":null,"drugs":"lithium, valproic acid","pmid":23315174,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotype CC is associated with decreased response to lithium or valproic acid in people with Bipolar Disorder as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3506814","article_title":"Pharmacogenetic Influence of LOC387715/HTRA1 on the Efficacy of Bevacizumab Treatment for Age-Related Macular Degeneration in a Korean Population","article_path":"articles/PMC3506814.md","variant_annotation_id":1183699684,"variant_haplotypes":"rs1061170","gene":"CFH","drugs":"bevacizumab","pmid":23204795,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the CT genotype were given a greater average number of additional bevacizumab injections (after the initial three intravitreal injections), as compared to those with the TT genotype.","sentence":"Genotype CT is associated with increased dose of bevacizumab in people with Macular Degeneration as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5932771","article_title":"Optimal predictor for 6-mercaptopurine intolerance in Chinese children with acute lymphoblastic leukemia: NUDT15, TPMT, or ITPA genetic variants?","article_path":"articles/PMC5932771.md","variant_annotation_id":1449750276,"variant_haplotypes":"TPMT*1, TPMT*3C","gene":"TPMT","drugs":"mercaptopurine","pmid":29720126,"phenotype_category":"Dosage, Toxicity","significance":"no","notes":"as measured by 6-MP dose intensity, which is a measure dose adjustment due to toxicity calculated by the ratio of the prescribed 6-MP dose over the protocol dose of 50 mg/m2/d. There were no TPMT*3C homozygotes and no TPMT*2.","sentence":"TPMT *1/*3C is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT *1/*1.","alleles":"*1/*3C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3675749","article_title":"Influences of Organic Cation Transporter Polymorphisms on the Population Pharmacokinetics of Metformin in Healthy Subjects","article_path":"articles/PMC3675749.md","variant_annotation_id":1183682332,"variant_haplotypes":"rs316019","gene":"SLC22A2","drugs":"metformin","pmid":23417334,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Healthy individuals with the CC genotype had decreased area under the serum concentration-time curve from zero to infinity (AUCinf), decreased peak concentration (Cmax), and increased clearance (CL/F) of metformin, as compared to those with the AC genotype. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype CC is associated with increased clearance of metformin in healthy individuals as compared to genotype AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC","comparison_metabolizer_types":null} +{"pmcid":"PMC3667657","article_title":"Plasma Letrozole Concentrations in Postmenopausal Women With Breast Cancer Are Associated With CYP2A6 Genetic Variants, Body Mass Index, and Age","article_path":"articles/PMC3667657.md","variant_annotation_id":827864338,"variant_haplotypes":"CYP2A6*1, CYP2A6*35","gene":"CYP2A6","drugs":"letrozole","pmid":21975350,"phenotype_category":null,"significance":"not stated","notes":"CYP2A6*1/*35 is associated with normal metabolism of letrozole (compared to slow metabolism of nicotine).","sentence":"CYP2A6 *1/*35 is associated with metabolism of letrozole in women with Breast Neoplasms.","alleles":"*1/*35","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC9601332","article_title":"The Pharmacogenetics of Cannabis in the Treatment of Chronic Pain","article_path":"articles/PMC9601332.md","variant_annotation_id":1451930586,"variant_haplotypes":"rs7438135","gene":"UGT2B7","drugs":"cannabinoids","pmid":36292717,"phenotype_category":"Efficacy","significance":"yes","notes":"\"AA homozygous patients for the UGT2B7 gene reported an average pain decrease of 2 VAS points, compared to the 1.3 VAS points of GG homozygotes or AG heterozygotes.\"","sentence":"Genotype AA is associated with increased clinical benefit to cannabinoids in people with Pain as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4308646","article_title":"Tamoxifen metabolism predicts drug concentrations and outcome in premenopausal patients with early breast cancer","article_path":"articles/PMC4308646.md","variant_annotation_id":1444932824,"variant_haplotypes":"CYP2D6 poor metabolizers","gene":"CYP2D6","drugs":"endoxifen","pmid":25091503,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Strong gene-dose effect for an association between the CYP2D6 activity score and endoxifen concentrations in all ethnic cohorts. *3, *4, *5, *6, *9, *10, *14, *15, *17, *41 were detected and grouped the following: PM/PM (0), PM/IM (0.5), IM/IM (0.75), PM/EM (1), IM/EM (1.5), EM/EM (2) and EM/UM (3). Patients were treated with tamoxifen but also 80% received chemotherapy. [pre-menopausal] [adjuvant] [DNA source: blood] [HWE: yes except *3, *9, *10, *17 in some populations]","sentence":"CYP2D6 poor metabolizer is associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4330076","article_title":"Pharmacogenomics of Hypertension: A Genome\u2010Wide, Placebo\u2010Controlled Cross\u2010Over Study, Using Four Classes of Antihypertensive Drugs","article_path":"articles/PMC4330076.md","variant_annotation_id":1448099774,"variant_haplotypes":"rs2514036","gene":"ACY3","drugs":"bisoprolol","pmid":25622599,"phenotype_category":"Efficacy","significance":"yes","notes":"Because of the GWAS design, these p-values are suggestive, not significant. Each participant received losartan 50 mg, bisoprolol 5 mg, hydrochlorothiazide 25 mg, and amlodipine 5 mg daily, each as a monotherapy in randomized order for 4 weeks. The study started with a 4-week run-in placebo period, and all 4 drug treatments were separated by 4-week placebo periods. 24-hour ABP readings were recorded at the end of each treatment period.","sentence":"Allele T is associated with increased response to bisoprolol in men with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2760462","article_title":"Atazanavir pharmacokinetics in genetically determined CYP3A5 expressors versus non-expressors","article_path":"articles/PMC2760462.md","variant_annotation_id":1184998461,"variant_haplotypes":"CYP3A5*1, CYP3A5*3, CYP3A5*6, CYP3A5*7","gene":"CYP3A5","drugs":"atazanavir","pmid":19710077,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In this two-phase study, healthy participants were given atazanavir only for 7 days and then were co-administered ritonavir as a booster for days 8-14. The results here are for day 1-7 (atazanavir alone). Non-expressor status was assigned to CYP3A5 homozygous variants (*3, *6, or *7) and expressor status was assigned to those carrying at least one *1 allele. By the end of day 7 oral clearance of atazanavir was 0.25 L/h/kg in CYP3A5 expressors versus 0.18 L/hr/kg in non-expressors (a 1.39 faster fold faster clearance in CYP3A5 expressors). Note: the authors do not specify which *3 allele patients had and so *3a here represents all *3 alleles.","sentence":"CYP3A5 *3 + *6 + *7 are associated with decreased metabolism of atazanavir in healthy individuals as compared to CYP3A5 *1.","alleles":"*3 + *6 + *7","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC9820603","article_title":"Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks","article_path":"articles/PMC9820603.md","variant_annotation_id":1452569940,"variant_haplotypes":"rs16944","gene":"IL1B","drugs":"aspirin, diclofenac, ibuprofen, indomethacin, ketorolac, naproxen","pmid":36614097,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with clinical benefit to aspirin, diclofenac, ibuprofen, indomethacin, ketorolac or naproxen in people with Migraine without Aura as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4713720","article_title":"Population pharmacokinetics and pharmacogenetics of once daily tacrolimus formulation in stable liver transplant recipients","article_path":"articles/PMC4713720.md","variant_annotation_id":1447679078,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":26521259,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A4 *22 is not associated with clearance of tacrolimus in people with liver transplantation as compared to CYP3A4 *1.","alleles":"*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2014166","article_title":"Tolterodine does not affect the human in vivo metabolism of the probe drugs caffeine, debrisoquine and omeprazole","article_path":"articles/PMC2014166.md","variant_annotation_id":1452643500,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"tolterodine","pmid":10190648,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Subjects were phenotyped with debrisoquine. Serum concentrations of the active 5-hydroxymethyl metabolite of tolterodine, 5-HM, were not quantifiable in PMs. \"There was a clear difference between the two CYP2D6 phenotypes, with the mean concentrations of tolterodine being 5\u201310 times higher in PMs compared with those in EMs. Serum 5-HM concentrations were in the same range as the parent compound in EM\"","sentence":"CYP2D6 poor metabolizer is associated with increased concentrations of tolterodine in men as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678288,"variant_haplotypes":"rs1051740","gene":"EPHX1","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors evaluated maintenance dose-adjusted concentrations of carbamazepine (CBZ), its active metabolite, CBZ-epoxide (CBZE), and its inactive metabolite CBZ-diol (CBZD) as well as CBZE:CBZ, CBZD:CBZ and CBZD:CBZE ratios.The CC genotype is associated with a lower mean dose adj. concentration of carbamazepine (CBZ) (microgram/mL per mg/Kg) (0.76 for the CC genotype vs. 0.94 &1.02 for the TT and CT genotypes, respectively). The C allele was also associated with a lower mean CBZ-diol to CBZ ratio (0.31 for TT vs. 0.23 & 0.25 for the CT & CC genotypes, respectively).","sentence":"Genotype CC is associated with increased metabolism of carbamazepine in people with Epilepsy as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC10139129","article_title":"Genetic Polymorphisms of ENPP2 Are Possibly Associated with Pain Severity and Opioid Dose Requirements in Patients with Inflammatory Pain Conditions: Clinical Observation Study","article_path":"articles/PMC10139129.md","variant_annotation_id":1452087820,"variant_haplotypes":"rs2249015","gene":"ENPP2","drugs":"opioids","pmid":37108150,"phenotype_category":"Dosage","significance":"yes","notes":"authors describe for minor allele, all sources in gnomAD give A as minor allele and G as major allele. This was not significant for dosage in the cancer pain intensity cohort.","sentence":"Genotype AA is associated with increased dose of opioids in people with Pain, Postoperative as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677238,"variant_haplotypes":"rs1008805","gene":"CYP19A1","drugs":"hdl cholesterol","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole and lipid lowering agents (LLA), such as statins. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with decreases in HDL-cholesterol of 6.6 mg/dL (SE 1.7).","sentence":"Allele G is associated with decreased concentrations of hdl cholesterol in women with Breast Neoplasms and Menopause as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472389,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"no","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"Allele T is not associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4444267","article_title":"Lack of Associations of CHRNA5-A3-B4 Genetic Variants with Smoking Cessation Treatment Outcomes in Caucasian Smokers despite Associations with Baseline Smoking","article_path":"articles/PMC4444267.md","variant_annotation_id":1444930299,"variant_haplotypes":"rs588765","gene":"CHRNA5","drugs":"nicotine","pmid":26010901,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of nicotine in people with Tobacco Use Disorder as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3894627","article_title":"Genetic Determinants of Response to Warfarin during Initial Anticoagulation","article_path":"articles/PMC3894627.md","variant_annotation_id":827807419,"variant_haplotypes":"CYP2C9*1","gene":"CYP2C9","drugs":"warfarin","pmid":18322281,"phenotype_category":"Dosage","significance":"yes","notes":"as compared to *2*2 or *3*3 or *2*3 with *1*2 and *1*3 requiring intermediate doses. This was most marked at day 28 to end of follow-up with average doses of 5.18mg/day for *1*1, 4.25mg/day for *1*2 or *1*3 and 3.36mg/day for *2*2 or *3*3 or *2*3.","sentence":"CYP2C9 *1/*1 is associated with increased dose of warfarin.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511096,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of AA, AG and GG did not influence donepezil clearance in a covariate model. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype AA is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4735517","article_title":"Genome-Wide Meta-Analysis of Cotinine Levels in Cigarette Smokers Identifies Locus at 4q13.2","article_path":"articles/PMC4735517.md","variant_annotation_id":1447814206,"variant_haplotypes":"rs10851907","gene":"CHRNB4","drugs":"cotinine","pmid":26833182,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors conducted a GWAS meta-analysis to identify genetic variants associated with cotinine in current daily smokers (Caucasian). The following study cohorts were analyzed: ALSPAC, CARDIA, FinnTwin, Framingham, GenMets, MESA, NESDA, NTR, TwinsUK, YFS. The SNP was associated with a ~34 ng/ml increase in plasma/serum cotinine and accounted for 1.75% variance in cotinine levels.","sentence":"Allele A is associated with increased concentrations of cotinine in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11023817","article_title":"Pharmacogenetic Influence on Stereoselective Steady-State Disposition of Bupropion","article_path":"articles/PMC11023817.md","variant_annotation_id":1452415367,"variant_haplotypes":"CYP2C19 poor metabolizer","gene":"CYP2C19","drugs":"bupropion","pmid":38467432,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"CYP2C19 phenotype had no influence on bupropion enantiomers apparent oral; clearance or renal clearance, and also had no influence on bupropion hydroxylation, based on; enantiomers plasma hydroxybupropion/bupropion AUC ratios (not shown) or urine; hydroxybupropion formation clearances. The plasma racemic threohydrobupropion/racemic; bupropion AUC ratio was greater in CYP2C19 intermediate and poor metabolizers, due mainly; to a greater 1S,2S-threohydrobupropion/S-bupropion AUC ratio. Formation clearance of 4-; hydroxy(erythro- and threo-hydrobupropion) was also significantly less in CYP2C19 poor; metabolizers. These were not greater in ultrarapid metabolizers. \"","sentence":"CYP2C19 poor metabolizer is not associated with increased exposure to bupropion in people with Depressive Disorder, Major as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5323433","article_title":"Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer","article_path":"articles/PMC5323433.md","variant_annotation_id":1448492087,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"exemestane","pmid":27549341,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in exemestane concentrations were seen between the three genotypes. The publication reports the finding for CYP3A4*1G. PharmVar re-assigned CYP3A4*1G to CYP3A4*36. Previously, this annotation used CYP3A4*36 which has been retired by PharmVar. All references to *36 have been replaced by rs2242480 alleles.","sentence":"Genotypes C/T + T/T are not associated with concentrations of exemestane in women with Breast Neoplasms as compared to genotype C/C.","alleles":"C/T + T/T","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C/C","comparison_metabolizer_types":null} +{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679411,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"omeprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the *1/*1 genotype had a significantly lower eradication rate of Helicobacter pylori (H. pylori), as compared to those with the *2/*2, *2/*3 or *3/*3 genotype. This was a meta-analysis and included 6 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received the antibiotics amoxicillin and clarithromycin as part of triple therapy.","sentence":"CYP2C19 *1/*1 is associated with decreased response to omeprazole in people with Helicobacter Infections as compared to CYP2C19 *2/*2 + *2/*3 + *3/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*2 + *2/*3 + *3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928304,"variant_haplotypes":"rs6313","gene":"HTR2A","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5048209","article_title":"Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response","article_path":"articles/PMC5048209.md","variant_annotation_id":1448632243,"variant_haplotypes":"rs1908557","gene":null,"drugs":"bupropion","pmid":27622933,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele C is associated with decreased response to bupropion in people with Depression as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032312,"variant_haplotypes":"rs2120266","gene":"NTRK2","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was not statistically significant after permutation analysis based on 40,000 replicates, and not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction).","sentence":"Genotype AA is associated with increased dose of methadone in people with Heroin Dependence as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC8841435","article_title":"Pharmacogenomics of celiprolol \u2013 evidence for a role of P\u2010glycoprotein and organic anion transporting polypeptide 1A2 in celiprolol pharmacokinetics","article_path":"articles/PMC8841435.md","variant_annotation_id":1451548145,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"celiprolol","pmid":34585840,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"the AUC0-infinity values were 213% smaller (p < 5 \u00d7 10\u22123) per copy of the ABCB1 c.3435T>C minor allele\". Alleles complemented to plus chromosomal strand.","sentence":"Allele G is associated with decreased concentrations of Celiprolol in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5485718","article_title":"Genomewide Association Study Identifies Novel Genetic Loci That Modify Antiplatelet Effects and Pharmacokinetics of Clopidogrel","article_path":"articles/PMC5485718.md","variant_annotation_id":1448624865,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"clopidogrel","pmid":27981573,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant was associated with decreased active metabolite H4 concentration.","sentence":"CYP2C19 *2 is associated with decreased metabolism of clopidogrel as compared to CYP2C19 *1/*1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5508045","article_title":"The impact of non-genetic and genetic factors on a stable warfarin dose in Thai patients","article_path":"articles/PMC5508045.md","variant_annotation_id":1448624188,"variant_haplotypes":"rs887829","gene":"UGT1A1","drugs":"warfarin","pmid":28550460,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of warfarin in people with Atrial Fibrillation, heart valve replacement, Hypertension, Pulmonary, Pulmonary Embolism and Venous Thrombosis as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation, Disease:Heart valve replacement, Disease:Pulmonary Hypertension, Disease:Pulmonary Embolism, Disease:Venous Thrombosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6777349","article_title":"Genotype-guided dosing study of FOLFIRI plus bevacizumab in metastatic colorectal cancer patients","article_path":"articles/PMC6777349.md","variant_annotation_id":1448281118,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan","pmid":27507617,"phenotype_category":"Dosage","significance":"not stated","notes":"This study provided maximum tolerated doses of irinotecan for the *1/*1 and *1/*28 genotypes. Patients with *28/*28 were excluded. The maximum tolerated dose for *1/*1 was higher than that of *1/*28, and both were higher than the standard dose of 180 mg/m2.","sentence":"UGT1A1 *1/*28 is associated with decreased dose of irinotecan in people with Colorectal Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3940150","article_title":"Underlying genetic structure impacts the association between CYP2B6 polymorphisms and response to efavirenz and nevirapine","article_path":"articles/PMC3940150.md","variant_annotation_id":1448993550,"variant_haplotypes":"rs8192709","gene":"CYP2B6","drugs":"efavirenz, non-nucleoside reverse transcriptase inhibitors","pmid":22951632,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype CT is not associated with response to efavirenz or non-nucleoside reverse transcriptase inhibitors in women with HIV Infections as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5421731","article_title":"Candidate\u2010Gene Study of Functional Polymorphisms in SLCO1B1 and CYP3A4/5 and the Cholesterol\u2010Lowering Response to Simvastatin","article_path":"articles/PMC5421731.md","variant_annotation_id":1448624736,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"simvastatin","pmid":28482130,"phenotype_category":"Efficacy","significance":"no","notes":"609 self-reported white and 335 self-reported African American men and women with baseline total serum cholesterol level between 160 and 400 mg/dL received 40 mg simvastatin daily for 6 weeks. Clinic visits occurred at 2-week intervals during the 6-week study.","sentence":"CYP3A5 *3 is not associated with response to simvastatin as compared to CYP3A5 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC10532907","article_title":"Pharmacogenetic Variants Associated with Fluoxetine Pharmacokinetics from a Bioequivalence Study in Healthy Subjects","article_path":"articles/PMC10532907.md","variant_annotation_id":1452260772,"variant_haplotypes":"rs28371703","gene":"CYP2D6","drugs":"fluoxetine","pmid":37763120,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Stratification of subjects based on CYP2D6 genotypes confirmed the difference in the PK profiles, based on the three SNVs found in this study (rs1065852, rs1135840, and rs28371703)\" Alleles complemented.","sentence":"Genotype GT is associated with increased half-life time of fluoxetine in healthy individuals as compared to genotype GG.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"half-life time of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11012255","article_title":"Single Nucleotide Polymorphisms of CYP3A4 and CYP3A5 in Romanian Kidney Transplant Recipients: Effect on Tacrolimus Pharmacokinetics in a Single-Center Experience","article_path":"articles/PMC11012255.md","variant_annotation_id":1452443500,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":38610733,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\" In the case of the CYP3A5*1 allele, a significant difference in the C0/D ratio was observed between carriers (CYP3A5*1/*1 and CYP3A5*1/*3) and individuals with the CYP3A5*3/*3 genotype during all post-transplant phases (p < 0.001)\"","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC6011347","article_title":"Blood pressure signature genes and blood pressure response to thiazide diuretics: results from the PEAR and PEAR-2 studies","article_path":"articles/PMC6011347.md","variant_annotation_id":1449566369,"variant_haplotypes":"rs11065987","gene":null,"drugs":"hydrochlorothiazide","pmid":29925376,"phenotype_category":"Efficacy","significance":"yes","notes":"rs11065987 was selected as a representative SNP of rs11065987, rs653178, rs10774625 and rs11066301, all of which are in high linkage disequilibrium with each other. The A allele of rs11065987 was associated with a greater decrease in both systolic and diastolic blood pressure following treatment with hydrochlorothiazideas compared to the GG genotype.","sentence":"Genotypes AA + AG is associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11258238","article_title":"Metabolic activity of CYP2C19 and CYP2D6 on antidepressant response from 13 clinical studies using genotype imputation: a meta-analysis","article_path":"articles/PMC11258238.md","variant_annotation_id":1452534000,"variant_haplotypes":"CYP2C19 poor metabolizer","gene":"CYP2C19","drugs":"antidepressants","pmid":39025838,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Overall, PMs in CYP2C19 showed a higher remission rate with nominal significance (OR\u2009=\u20091.46, 95% CI [1.03, 2.06], p\u2009=\u20090.033, Fig. \u200bFig.2a)2a) but did not meet correction for multiple testing. The percentage improvement analysis showed a non-significant higher efficacy in PMs (SMD\u2009=\u20090.13, 95% CI [\u22120.03, 0.29], p\u2009=\u20090.101).\"","sentence":"CYP2C19 poor metabolizer is associated with increased clinical benefit to antidepressants in people with Depressive Disorder, Major as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038036,"variant_haplotypes":"rs5104","gene":"APOA4","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4682920","article_title":"Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study","article_path":"articles/PMC4682920.md","variant_annotation_id":1447682497,"variant_haplotypes":"rs12944940","gene":null,"drugs":"boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":26670100,"phenotype_category":"Efficacy","significance":"no","notes":"This variant was not significantly associated with SVR to triple therapy including telaprevir or boceprevir in patients with compensated cirrhosis chronically infected with HCV-1.","sentence":"Allele T is not associated with increased response to boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5079351","article_title":"The use of ivacaftor in CFTR mutations resulting in residual functioning protein","article_path":"articles/PMC5079351.md","variant_annotation_id":1448423843,"variant_haplotypes":"rs121909011","gene":"CFTR","drugs":"ivacaftor","pmid":27812499,"phenotype_category":"Efficacy","significance":"yes","notes":"Investigation of ivacaftor treatment in patients with CFTR variants conferring residual CFTR function, comparing patients with ivacaftor treatment to those without. Genotypes of the patients receiving ivacaftor were R347P/L1065P, 2789+5G/R1066C, S912X/D579G, S912X/D579G, del F508/R352Q, G542X/D1152H, and W1282W/D1152H. The outcomes measured were FEV1 %predicted, increase in BMI, CFQ-R, and number of exacerbations.","sentence":"Allele C is associated with increased response to ivacaftor in people with Cystic Fibrosis as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2722908","article_title":"Estimation of the Warfarin Dose with Clinical and Pharmacogenetic Data","article_path":"articles/PMC2722908.md","variant_annotation_id":655387562,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":19228618,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is associated with decreased dose of warfarin.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5604731","article_title":"Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients","article_path":"articles/PMC5604731.md","variant_annotation_id":827863341,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"methotrexate","pmid":22450926,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451974167,"variant_haplotypes":"rs58847127","gene":"ITGB3","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with increased resistance to clopidogrel in people with Coronary Disease as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479737,"variant_haplotypes":"rs4646425","gene":"CYP1A2","drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6409308","article_title":"Genetic Association of Olanzapine Treatment Response in Han Chinese Schizophrenia Patients","article_path":"articles/PMC6409308.md","variant_annotation_id":1451702080,"variant_haplotypes":"rs12610827","gene":null,"drugs":"olanzapine","pmid":30886581,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors state \"In this study, Han Chinese SCZ patients who carried allele T in SNP rs12610827 showed more good response in OLA treatment.\"","sentence":"Allele T is associated with increased clinical benefit to olanzapine in people with Schizophrenia as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680865,"variant_haplotypes":"rs1054190","gene":"NR1I2","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype CC is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3553682","article_title":"Impact of Pharmacogenetic Markers of CYP2B6, Clinical Factors, and Drug-Drug Interaction on Efavirenz Concentrations in HIV/Tuberculosis-Coinfected Patients","article_path":"articles/PMC3553682.md","variant_annotation_id":1183491467,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"efavirenz","pmid":23254426,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As shown by increased plasma concentrations (units = mg/L) for those with the AG genotype compared to those with the AA genotype. Fasting plasma efavirenz concentrations were measured 12 hours after the last dose, and after 12 weeks of treatment.","sentence":"Genotype AG is associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4641035","article_title":"Efficacy and safety of ivacaftor treatment: randomized trial in subjects with cystic fibrosis who have an R117H-CFTR mutation","article_path":"articles/PMC4641035.md","variant_annotation_id":1447986312,"variant_haplotypes":"rs78655421","gene":"CFTR","drugs":"ivacaftor","pmid":26070913,"phenotype_category":"Efficacy","significance":"yes","notes":"Extension study of KONDUCT. Patients underwent a washout period then an interim analysis at 12 weeks. Placebo-to-ivacaftor and ivacaftor-to-ivacaftor groups showed % predicted FEV1 improvement (absolute change from post-washout baseline at week 12: placebo-to-ivacaftor 5.0 percentage points (p=0.0005), ivacaftor-to-ivacaftor 6.0 percentage points (p=0.006)). There was also improvement in CFQ-R respiratory domain.","sentence":"Genotypes AA + AG is associated with response to ivacaftor in people with Cystic Fibrosis.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3894627","article_title":"Genetic Determinants of Response to Warfarin during Initial Anticoagulation","article_path":"articles/PMC3894627.md","variant_annotation_id":1450980580,"variant_haplotypes":"rs2884737","gene":"VKORC1","drugs":"warfarin","pmid":18322281,"phenotype_category":"Dosage","significance":"yes","notes":"With *1/*2 (AC) requiring intermediate dose. This was most marked at day 28 to end of follow-up with average doses of 3.66mg/day for *2*2 (HaplotypeA/HaplotypeA\"), 4.45mg/day for HaplotypeA/nonA and 5.68mg/day for nonA/nonA. Authors also used rs9923231, rs9934438, rs8050894, and rs2359612 to define HaplotypeA.","sentence":"Genotype CC is associated with decreased dose of warfarin as compared to genotype AA.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5412267","article_title":"OPRM1 c.118A>G Polymorphism and Duration of Morphine Treatment Associated with Morphine Doses and Quality-of-Life in Palliative Cancer Pain Settings","article_path":"articles/PMC5412267.md","variant_annotation_id":1448612973,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"morphine","pmid":28346387,"phenotype_category":"Dosage","significance":"no","notes":"The setting was for palliative care of cancer patients.","sentence":"Allele A is not associated with dose of morphine in people with Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC8204702","article_title":"Rifampicin effect on intracellular and plasma pharmacokinetics of tenofovir alafenamide","article_path":"articles/PMC8204702.md","variant_annotation_id":1451640080,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"tenofovir alafenamide","pmid":30815689,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Through linear regression analysis CYP3A4*22 522-191C>T (rs35599367) was significantly associated with log10 tenofovir alafenamide plasma AUC at visit day 56 (P\u205f=\u205f0.033, \u03b2\u205f=\u205f0.25), with a 39% difference in tenofovir alafenamide AUC between homozygous CC (n\u205f=\u205f17) and heterozygous CT (n\u205f=\u205f4) individuals. Within our population no subjects possessed the homozygous variant genotype for CYP3A4*22 522-191C>T.\" Alleles complemented to plus chromosomal strand.","sentence":"Genotype AG is associated with decreased concentrations of tenofovir alafenamide in healthy individuals as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2599947","article_title":"ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence","article_path":"articles/PMC2599947.md","variant_annotation_id":1450811573,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methadone","pmid":18424454,"phenotype_category":"Dosage","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. Genotypes were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone.","sentence":"Genotype AA is not associated with dose of methadone in people with Heroin Dependence as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC9582748","article_title":"Effects of CYP2C19 genetic polymorphisms on the cure rates of H. pylori in patients treated with the proton pump inhibitors: An updated meta-analysis","article_path":"articles/PMC9582748.md","variant_annotation_id":1451927040,"variant_haplotypes":"CYP2C19 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2C19","drugs":"esomeprazole, pantoprazole, rabeprazole","pmid":36278195,"phenotype_category":"Efficacy","significance":"no","notes":"in meta-analysis of cure rates of H. pylori in triple therapy.","sentence":"CYP2C19 intermediate metabolizer and poor metabolizer is not associated with increased clinical benefit to esomeprazole, pantoprazole or rabeprazole in people with Helicobacter Infections as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC4682920","article_title":"Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study","article_path":"articles/PMC4682920.md","variant_annotation_id":1447682483,"variant_haplotypes":"rs52797880","gene":"APOH","drugs":"boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":26670100,"phenotype_category":"Efficacy","significance":"no","notes":"This variant was not significantly associated with SVR to triple therapy including telaprevir or boceprevir in patients with compensated cirrhosis chronically infected with HCV-1.","sentence":"Allele A is not associated with increased response to boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4278770","article_title":"Oxidative Stress-Related Genetic Polymorphisms Are Associated with the Prognosis of Metastatic Gastric Cancer Patients Treated with Epirubicin, Oxaliplatin and 5-Fluorouracil Combination Chemotherapy","article_path":"articles/PMC4278770.md","variant_annotation_id":1444694895,"variant_haplotypes":"rs1799983","gene":"NOS3","drugs":"epirubicin, fluorouracil, oxaliplatin","pmid":25545243,"phenotype_category":"Efficacy","significance":"not stated","notes":null,"sentence":"Allele G is not associated with response to epirubicin, fluorouracil and oxaliplatin in people with Neoplasm Metastasis and Stomach Neoplasms.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729340,"variant_haplotypes":"rs3758580","gene":"CYP2C19","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes CT + TT is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC12043259","article_title":"Pharmacogenetics of plasma dolutegravir exposure during 1-month rifapentine/isoniazid treatment of latent tuberculosis","article_path":"articles/PMC12043259.md","variant_annotation_id":1452856220,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"dolutegravir","pmid":39960813,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"no association between NAT2 acetylator; status and dolutegravir Ctrough\"","sentence":"NAT2 slow acetylator is not associated with increased dose-adjusted trough concentrations of dolutegravir in people with HIV infectious disease and Tuberculosis as compared to NAT2 rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease, Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"rapid acetylator"} +{"pmcid":"PMC5098919","article_title":"Association of Cytochrome P450 Genetic Variants with Clopidogrel Resistance and Outcomes in Acute Ischemic Stroke","article_path":"articles/PMC5098919.md","variant_annotation_id":1447949744,"variant_haplotypes":"CYP2C19*1, CYP2C19*3","gene":"CYP2C19","drugs":"clopidogrel","pmid":26961113,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"CYP2C19 *1/*3 + *3/*3 are not associated with resistance to clopidogrel in people with Stroke as compared to CYP2C19 *1/*1.","alleles":"*1/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Stroke","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5533497","article_title":"CYP2D6 phenotypes are associated with adverse outcomes related to opioid medications","article_path":"articles/PMC5533497.md","variant_annotation_id":1448995416,"variant_haplotypes":"CYP2D6 poor and ultrarapid metabolizers","gene":"CYP2D6","drugs":"opioids","pmid":28769582,"phenotype_category":"Efficacy","significance":"yes","notes":"After adjusting for age and gender, subjects with poor or ultrarapid metabolizer phenotype are 2.6 times more likely to experience poor pain control.","sentence":"CYP2D6 poor and ultrarapid metabolizers are associated with decreased response to opioids in people with Pain as compared to CYP2D6 intermediate metabolizer and normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer and ultrarapid metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} +{"pmcid":"PMC6486881","article_title":"Replication of the pharmacogenetic effect of rs678849 on buprenorphine efficacy in African-Americans with opioid use disorder","article_path":"articles/PMC6486881.md","variant_annotation_id":1449753070,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"methadone","pmid":30368523,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined by the number of opioid-positive urine screens recorded during treatment.","sentence":"Genotype CC is not associated with response to methadone in people with Opioid-Related Disorders as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5700353","article_title":"Genetics of Nevirapine Metabolic Pathways at Steady State in HIV-Infected Cambodians","article_path":"articles/PMC5700353.md","variant_annotation_id":1449001754,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"nevirapine","pmid":28947469,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT is associated with decreased metabolism of nevirapine in people with HIV Infections as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC6462825","article_title":"Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort","article_path":"articles/PMC6462825.md","variant_annotation_id":1449164085,"variant_haplotypes":"rs2472682","gene":"NR1I2","drugs":"warfarin","pmid":29298995,"phenotype_category":"Dosage","significance":"no","notes":"Warfarin dose requirement was defined as the reported daily dose at 3 months following treatment initiation.","sentence":"Allele C is not associated with dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896193,"variant_haplotypes":"rs2456568","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436740,"variant_haplotypes":"rs1801133","gene":"CLCN6, MTHFR","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 4.5E-3.","sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511072,"variant_haplotypes":"rs1057868","gene":"POR","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of TT, CT and CC did not influence donepezil clearance in a covariate model. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373197,"variant_haplotypes":"rs2236259","gene":"OPRM1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not significantly associated with compliance with methadone maintenance therapy or 'negative rate of morphine urine test'.","sentence":"Allele C is not associated with response to methadone in people with Heroin Dependence as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6142943","article_title":"Association of Genetic Variants With Response to Anti\u2013Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration","article_path":"articles/PMC6142943.md","variant_annotation_id":1449567006,"variant_haplotypes":"rs2237435","gene":"INHBA","drugs":"bevacizumab, ranibizumab","pmid":29852030,"phenotype_category":"Efficacy","significance":"no","notes":"The authors performed GWAS in a discovery cohort, and did a replication analysis.","sentence":"Allele A is not associated with response to bevacizumab and ranibizumab in people with as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6451710","article_title":"Impact of CYP3A4*22 on Pazopanib Pharmacokinetics in Cancer Patients","article_path":"articles/PMC6451710.md","variant_annotation_id":1451639883,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"pazopanib","pmid":30367352,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"There were homozygous AA in the cohort. Alleles complemented to plus chromosomal strand. Variant described as CYP3A4 rs35599367 15389C>T *22","sentence":"Genotype AG is associated with decreased clearance of pazopanib in people with Neoplasms as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491501,"variant_haplotypes":"rs1799945","gene":"HFE","drugs":"atenolol","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in systolic blood pressure (SBP) and diastolic blood pressure (DBP) after 9 weeks of treatment.","sentence":"Allele G is not associated with response to atenolol in people with Hypertension as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7235792","article_title":"Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates","article_path":"articles/PMC7235792.md","variant_annotation_id":1451147560,"variant_haplotypes":"rs4986910","gene":"CYP3A4","drugs":"ambrisentan, aripiprazole, atorvastatin, donepezil, olanzapine","pmid":32331352,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant changes in PK parameters in the presence of the G allele. The G allele is also referred to in the paper as the CYP3A4*3 allele.","sentence":"Allele G is not associated with metabolism of ambrisentan, aripiprazole, atorvastatin, donepezil or olanzapine in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC11552228","article_title":"CYP3A4*1B and CYP3A5*3 SNPs significantly impact the response of Egyptian candidates to high-intensity statin therapy to atorvastatin","article_path":"articles/PMC11552228.md","variant_annotation_id":1452706140,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"atorvastatin","pmid":39523378,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Patients with the C/C genotype had higher plasma atorvastatin levels (8.07\u2009\u00b1\u20092.33) than did those with the T/C genotype (3.30\u2009\u00b1\u20091.00) (P value\u2009<\u20090.001) (Table 5).; Pearson\u2019s analysis revealed statistically significant correlations (P values\u2009<\u20090.001) between atorvastatin plasma levels (in ng/ml) and both genotypes of CYP3A5*3 (T/C) and (C/C). There was a strong indirect relationship between the T/C genotype and disease severity (r\u2009=\u2009\u2212 0.73, n\u2009=\u200932). For the (C/C) genotype, there was a strong and direct relationship (r\u2009=\u20090.80, n\u2009=\u200967) (Table 3).\" No TT were reported.","sentence":"Genotype CC is associated with increased concentrations of atorvastatin in people with Cardiovascular Disease or Hyperlipidemias as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cardiovascular Disease, Other:Hyperlipidemias","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4444267","article_title":"Lack of Associations of CHRNA5-A3-B4 Genetic Variants with Smoking Cessation Treatment Outcomes in Caucasian Smokers despite Associations with Baseline Smoking","article_path":"articles/PMC4444267.md","variant_annotation_id":1444930252,"variant_haplotypes":"rs578776","gene":"CHRNA3","drugs":"nicotine, varenicline","pmid":26010901,"phenotype_category":"Efficacy","significance":"no","notes":"Response here refers to smoking cessation outcomes at 7 days and nicotine refers to nicotine patches. Smoking cessation outcomes at 6 months and 12 months were also not significantly associated with genotype.","sentence":"Genotype GG is not associated with response to nicotine or varenicline in people with Tobacco Use Disorder as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC8604252","article_title":"Nicotine metabolism and its association with CYP2A6 genotype among Indigenous people in Alaska who smoke","article_path":"articles/PMC8604252.md","variant_annotation_id":1451504060,"variant_haplotypes":"CYP2A6*1, CYP2A6*2, CYP2A6*9, CYP2A6*10","gene":"CYP2A6","drugs":"3-hydroxycotinine, 3-hydroxycotinine glucuronide","pmid":34520119,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Authors compared NMR nicotine metabolic ratio using 3-hydroxycotinine to cotinine in plasma and 3-hydroxycotinine and 3-hydroxycotinine glucuronide to cotinine in urine. Alleles measured were *1X2A, *1B, *2, *4, *9, *7, *8, *10 (composed of *7 and *8), *12, and *35. Activity scores were assigned by diplotype.","sentence":"CYP2A6 *1 + *2 (assigned as normal metabolizer and intermediate metabolizer phenotype) is associated with increased concentrations of 3-hydroxycotinine and 3-hydroxycotinine glucuronide in people with Tobacco Use Disorder as compared to CYP2A6 *10 + *9 (assigned as poor metabolizer phenotype) .","alleles":"*1 + *2","specialty_population":null,"metabolizer_types":"normal metabolizer and intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*10 + *9","comparison_metabolizer_types":"poor metabolizer"} +{"pmcid":"PMC2630264","article_title":"The largest prospective warfarin-treated cohort supports genetic forecasting","article_path":"articles/PMC2630264.md","variant_annotation_id":1183701108,"variant_haplotypes":"CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":18574025,"phenotype_category":"Dosage","significance":"yes","notes":"CYP2C9*2 and *3 explained 12% (P = 6.63 x 10(-34)) of the variation in warfarin dose.","sentence":"CYP2C9 *2 is associated with decreased dose of warfarin.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3680019","article_title":"Influence of efavirenz pharmacokinetics and pharmacogenetics on neuropsychological disorders in Ugandan HIV-positive patients with or without tuberculosis: a prospective cohort study","article_path":"articles/PMC3680019.md","variant_annotation_id":1448997246,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":23734829,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":null,"sentence":"CYP2B6 *6 is associated with increased concentrations of efavirenz in people with HIV as compared to CYP2B6 *1/*1.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934470,"variant_haplotypes":"rs397515870","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the G allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Pro205Thr in the paper.","sentence":"Allele G is associated with increased response to migalastat in people with Fabry Disease.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3137047","article_title":"Probing Conformational Rescue Induced by a Chemical Corrector of F508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutant","article_path":"articles/PMC3137047.md","variant_annotation_id":981755725,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor","pmid":21602569,"phenotype_category":"Efficacy","significance":"not stated","notes":"in vitro assays using cells expressing a F508del-KXK-CFTR: CFTR with the F508del mutation (rs113993960 del) and mutations of arginines at positions 553 and 555 (these increased protein processing and function). Cells were activated (forskolin, IBMX) then treated with ivacator and a corrector compound VRT-325.","sentence":"Allele del is associated with increased response to ivacaftor.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4760888","article_title":"Impact of GGCX, STX1B and FPGS Polymorphisms on Warfarin Dose Requirements in European\u2010Americans and Egyptians","article_path":"articles/PMC4760888.md","variant_annotation_id":1447677865,"variant_haplotypes":"rs4889606","gene":"STX1B","drugs":"warfarin","pmid":26751406,"phenotype_category":"Dosage","significance":"yes","notes":"in both European-Americans, and Egyptians. \"However, STX1B rs4889606 was in high linkage disequilibrium with VKORC1-1639 G>A, and was no longer significant after including VKORC1-1639 G>A in the regression model. Based on these data, the polymorphisms do not appear to influence, in a clinically important way, warfarin dose requirements in European-Americans and Egyptians. \"","sentence":"Genotypes AG + GG are associated with decreased dose of warfarin as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC11359404","article_title":"Genetic Variation in CYP2D6, UGT1A4, SLC6A2 and SLCO1B1 Alters the Pharmacokinetics and Safety of Mirabegron","article_path":"articles/PMC11359404.md","variant_annotation_id":1452574570,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"mirabegron","pmid":39204422,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"The Cmax/DW was significantly lower in NAT2 slow acetilators (SAs) compared to intermediate (IAs) and rapid acetilators (RAs) (puv = 0.046). Even though differences disappeared in pair comparison, the observed lower Cmax/DW in NAT2 SAs was maintained when IAs and RAs were merged in a unique group (puv = 0.016), accompanied by a tendency towards a lower AUC/DW (puv = 0.089) and higher tmax and CL/F in SAs (puv = 0.083 and puv = 0.076, respectively).\"","sentence":"NAT2 slow acetylator is associated with decreased dose-adjusted trough concentrations of mirabegron in healthy individuals as compared to NAT2 intermediate acetylator and rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate acetylator and rapid acetylator"} +{"pmcid":"PMC4565152","article_title":"Genetic Variation at the LDL Receptor and HMG CoA Reductase Gene Loci, Lipid Levels, Statin Response, and Cardiovascular Disease Incidence in PROSPER","article_path":"articles/PMC4565152.md","variant_annotation_id":769152908,"variant_haplotypes":"rs2738466","gene":"LDLR","drugs":"pravastatin","pmid":18261733,"phenotype_category":"Efficacy","significance":"not stated","notes":"PROSPER study.Baseline Lipid Values, LDL-C lowering response,trial CHD and CVD outcomes were measured. 40 mg/day pravastatin.","sentence":"Genotype GG is associated with increased response to pravastatin in people with Vascular Diseases as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Vascular Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC1975838","article_title":"Genetic-based dosing in orthopedic patients beginning warfarin therapy","article_path":"articles/PMC1975838.md","variant_annotation_id":1183699320,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":17387222,"phenotype_category":"Dosage","significance":"yes","notes":"C (*3) was associated with 38.1 %(95% CI 29.3 -45.7%) reduction in therapeutic dose (defined as the dose that gave an INR in the target therapeutic range after 7 consecutive days) per copy.","sentence":"Allele C is associated with decreased dose of warfarin in people with total knee or hip arthroplasty as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:total knee or hip arthroplasty","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4890827","article_title":"A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration","article_path":"articles/PMC4890827.md","variant_annotation_id":1446907744,"variant_haplotypes":"rs2070296","gene":"NRP1","drugs":"ranibizumab","pmid":26426212,"phenotype_category":"Efficacy","significance":"yes","notes":"Associated with change in visual acuity after 3 months of treatment in patients who received three monthly ranibizumab injections.","sentence":"Allele T is associated with decreased response to ranibizumab in people with Macular Degeneration as compared to genotype CC.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3282030","article_title":"The Correlation of Il28B Genotype With Sustained Virologic Response In Romanian patients With Chronic Hepatitis C","article_path":"articles/PMC3282030.md","variant_annotation_id":1444705048,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2b, ribavirin","pmid":22368681,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with increased sustained virological response (SVR; 73.1%[19 of 26] vs. 43.7%[35 of 80], P=0.0126) as well as increased occurrence of complete early virological response (cEVR; 80.8%[21 of 26] vs. 51.2%[41 of 80], P=0.011) when compared to patients with non-CC genotypes.","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3611944","article_title":"Pharmacogenetic association with early response to intravitreal ranibizumab for age-related macular degeneration in a Korean population","article_path":"articles/PMC3611944.md","variant_annotation_id":1183682052,"variant_haplotypes":"rs11200638","gene":"HTRA1","drugs":"ranibizumab","pmid":23559864,"phenotype_category":"Efficacy","significance":"no","notes":"Age-related macular degeneration. No significant differences in best-corrected visual acuity (BCVA) changes or central subfield macular thickness (CSMT) changes were seen between baseline and 3 or 6 months of treatment between any of the genotypes.","sentence":"Allele A is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3329222","article_title":"A Common 5\u2032-UTR Variant in MATE2-K Is Associated With Poor Response to Metformin","article_path":"articles/PMC3329222.md","variant_annotation_id":827788923,"variant_haplotypes":"rs12943590","gene":"SLC47A2","drugs":"metformin","pmid":21956618,"phenotype_category":"Efficacy, Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype AA is associated with decreased response to metformin in people with Diabetes Mellitus as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811896,"variant_haplotypes":"rs648007","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. The A allele was associated with increased scores in the dizzy and nausea traits on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele A is associated with increased response to ethanol as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4177494","article_title":"IL28B polymorphism genotyping as predictor of rapid virologic response during interferon plus ribavirin treatment in hepatitis C virus genotype 1 patients","article_path":"articles/PMC4177494.md","variant_annotation_id":1445296808,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":25278709,"phenotype_category":"Efficacy","significance":"yes","notes":"Carriage of the G allele was the best predictor of null-R (not achieving a hepatitis C virus (HCV) RNA drop of >= 1 log at week 4) within logistic regression analysis.","sentence":"Genotypes GG + GT is associated with decreased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2810514","article_title":"Interleukin-6 (IL-6) haplotypes and the response to therapy of chronic hepatitis C virus infection","article_path":"articles/PMC2810514.md","variant_annotation_id":981861796,"variant_haplotypes":"rs1800797","gene":"IL6","drugs":"peginterferon alfa-2a","pmid":19387461,"phenotype_category":"Efficacy","significance":"yes","notes":"This association is as part of a haplotype which also includes rs1800796G and rs1800795G.","sentence":"Allele G is associated with decreased response to peginterferon alfa-2a in people with Hepatitis C, Chronic as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC10607223","article_title":"Impact of Sex and Genetic Variation in Relevant Pharmacogenes on the Pharmacokinetics and Safety of Valsartan, Olmesartan and Hydrochlorothiazide","article_path":"articles/PMC10607223.md","variant_annotation_id":1452287900,"variant_haplotypes":"rs34059508","gene":"SLC22A1","drugs":"hydrochlorothiazide, olmesartan","pmid":37894954,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"There were no AA homozygotes. \"Higher hydrochlorothiazide AUC\u221e/DW was observed in SLC22A1 rs34059508 G/A volunteers compared to G/G volunteers\"","sentence":"Genotype AG is associated with increased dose-adjusted trough concentrations of hydrochlorothiazide null olmesartan in healthy individuals as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376587,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele C.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10163902","article_title":"MTHFR and MTRR Genetic Polymorphism of Methotrexate Therapy Outcomes in Early Rheumatoid Arthritis","article_path":"articles/PMC10163902.md","variant_annotation_id":1452100160,"variant_haplotypes":"rs1801131","gene":"MTHFR","drugs":"methotrexate","pmid":37159804,"phenotype_category":"Efficacy","significance":"no","notes":"alleles complemented to plus chromosomal strand. Response measured by ESR, erythrocyte sedimentation rate; TJC, tender joints counts; SJC, swollen joints counts; DAS28, Disease Activity Score in 28 joints. \"DAS28 was decreased after the post-treatment in 677TT and 1298AC, but was not statistically significant.\" No homozygotes were observed for the minor allele.","sentence":"Genotype GT is associated with increased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotype TT.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC11509751","article_title":"Bleeding Events Associated with Rivaroxaban Therapy in Naive Patients with Nonvalvular Atrial Fibrillation: A Longitudinal Study from a Genetic Perspective with INR Follow-Up","article_path":"articles/PMC11509751.md","variant_annotation_id":1452654580,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"rivaroxaban","pmid":39459499,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"In our study, we found that for ABCB1-related rs4148738 and rs2032582, there was a statistically significant difference between the wild and mutant genotypes and a decrease in the CDR max values of rivaroxaban, while CDRss was statistically significant between the wild and homozygous mutant genotypes. For rs1045642 and rs1128503 of ABCB1, the decreased CDR max and Css levels of rivaroxaban were statistically significant between the wild (AA) and mutant (AG, GG) genotypes. Our findings suggest that polymorphism in the P-glycoprotein expressed by the ABCB1 gene can affect the peak plasma levels of rivaroxaban.\"","sentence":"Genotypes AG + GG is associated with decreased concentrations of rivaroxaban in people with Atrial Fibrillation as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163057,"variant_haplotypes":"rs2235048","gene":"ABCB1","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. This is a proxy for rs1045642 (3435C>T).","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4976849","article_title":"Folate metabolic pathway single nucleotide polymorphisms: a predictive pharmacogenetic marker of methotrexate response in Indian (Asian) patients with rheumatoid arthritis","article_path":"articles/PMC4976849.md","variant_annotation_id":1447674478,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"methotrexate","pmid":26616421,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes CT + TT is associated with increased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5029084","article_title":"NUDT15 Polymorphisms Alter Thiopurine Metabolism and Hematopoietic Toxicity","article_path":"articles/PMC5029084.md","variant_annotation_id":1447945037,"variant_haplotypes":"NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*4, NUDT15*5","gene":"NUDT15","drugs":"mercaptopurine","pmid":26878724,"phenotype_category":"Dosage","significance":"yes","notes":"Patients were classified into three diplotypic groups: normal activity (*1/*1), intermediate activity (*1/*2, *1/*3, *1/*4, *1/*5) and low activity (*2/*3, *3/*3, *3/*5). Across three cohorts (Guatemalan, Singaporean, Japanese), and in a meta-analysis of the three cohorts, the tolerated mercaptopurine dose (mg/m2) was highest in those with normal activity, followed by intermediate activity and low activity. Note that those with the *1/*2 and *1/*3 diplotypes had similar degree of mercaptopurine tolerance, and compound-heterozygous genotypes had a similar degree of tolerance compared to homozygotes (*3/*3).","sentence":"NUDT15 *1/*1 (assigned as high activity phenotype) is associated with increased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to NUDT15 *1/*2 + *1/*3 + *1/*4 + *1/*5 + *3/*3 + *3/*5 + *2/*3 (assigned as intermediate and low activity phenotype) .","alleles":"*1/*1","specialty_population":"Pediatric","metabolizer_types":"high activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*3 + *1/*4 + *1/*5 + *3/*3 + *3/*5 + *2/*3","comparison_metabolizer_types":"low activity and intermediate activity"} +{"pmcid":"PMC4835128","article_title":"ABCB1 and ABCC2 and the risk of distant metastasis in Thai breast cancer patients treated with tamoxifen","article_path":"articles/PMC4835128.md","variant_annotation_id":1448097395,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"tamoxifen","pmid":27110128,"phenotype_category":"Efficacy","significance":"yes","notes":"Efficacy was measured as disease-free survival in breast cancer patients with distant metastasis of bone, lung, or liver. No patients had the TT genotype.","sentence":"Genotype CT is associated with increased response to tamoxifen in women Breast Neoplasms as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC11049768","article_title":"The influence of COMT and ABCB1 gene polymorphisms on sufentanil analgesic effect for postoperative pain in children with fracture","article_path":"articles/PMC11049768.md","variant_annotation_id":1452460760,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"sufentanil","pmid":38669362,"phenotype_category":"Dosage","significance":"yes","notes":"\"Pediatric patients in the CC group of ABCB1 had higher pain scores and total consumption of sufentanil at awakening, as well as at 2 and 6 hours postoperatively, compared to the TT and CT groups (P\u2005<\u2005.05). However, there was no statistically significant difference between the TT and CT groups (P\u2005>\u2005.05).\"","sentence":"Genotype GG is associated with increased dose of sufentanil in children with Pain, Postoperative as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550301,"variant_haplotypes":"rs362726","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele C is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4365300","article_title":"TRAF1/C5 but Not PTPRC Variants Are Potential Predictors of Rheumatoid Arthritis Response to Anti-Tumor Necrosis Factor Therapy","article_path":"articles/PMC4365300.md","variant_annotation_id":1444702681,"variant_haplotypes":"rs13031237","gene":"REL","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":25834819,"phenotype_category":"Efficacy","significance":"no","notes":"using either the absolute change in DAS28 or the proportion of good responders and non-responders as outcomes.","sentence":"Allele T is not associated with decreased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981794096,"variant_haplotypes":"rs2242048","gene":"SLC28A1","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Tumor response to therapy, progression free survival, and risk of neutropenia development did not significantly differ between genotype groups.","sentence":"Genotype GG is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC7235792","article_title":"Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates","article_path":"articles/PMC7235792.md","variant_annotation_id":1451147584,"variant_haplotypes":"rs41303343","gene":"CYP3A5","drugs":"ambrisentan, aripiprazole, atorvastatin, donepezil, olanzapine","pmid":32331352,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant changes in PK parameters in the presence of the A allele. The A allele is also referred to in the paper as the CYP3A5*7 allele.","sentence":"Allele A is not associated with metabolism of ambrisentan, aripiprazole, atorvastatin, donepezil or olanzapine in healthy individuals as compared to allele del.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} +{"pmcid":"PMC4236071","article_title":"Adiponectin Gene Polymorphism rs2241766 T/G Is Associated with Response to Pioglitazone Treatment in Type 2 Diabetic Patients from Southern China","article_path":"articles/PMC4236071.md","variant_annotation_id":1444666920,"variant_haplotypes":"rs3821799","gene":"ADIPOQ","drugs":"pioglitazone","pmid":25405601,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as \"any decrease greater than (or equal to) 15%\" of glycated hemoglobin (HbA1C%). The TT genotype was associated with a greater decrease in waist circumference as compared to the TC and CC genotypes after pioglitazone therapy (p=0.033).","sentence":"Genotypes CT + TT are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5591096","article_title":"A genetic variant in GLP1R is associated with response to DPP-4 inhibitors in patients with type 2 diabetes","article_path":"articles/PMC5591096.md","variant_annotation_id":1452876409,"variant_haplotypes":"rs3765467","gene":"GLP1R","drugs":"gemigliptin, linagliptin, saxagliptin, sitagliptin, vildagliptin","pmid":27858848,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The proportion of DPP-4 inhibitor responders with GG genotype (52.7%) was significantly lower than that of responders with GA/AA genotype (68.8%, P\u200a=\u200a0.018). \" \"No significant differences in baseline fasting blood glucose and HbA1c were found between patients with GA/AA genotype and those with GG genotype. However, patients with GA/AA genotype were associated with a significantly greater reduction of HbA1c levels after DPP-4 inhibitor treatment (variation: 1.3\u200a\u00b1\u200a1.1% vs 0.9\u200a\u00b1\u200a1.2%; P\u200a=\u200a0.022) (Table 2).\"","sentence":"Genotypes AA + AG is associated with increased clinical benefit to gemigliptin, linagliptin, saxagliptin, sitagliptin or vildagliptin in people with Diabetes Mellitus, Type 2 as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4560372","article_title":"Association between CXCL10 and DPP4 Gene Polymorphisms and a Complementary Role for Unfavorable IL28B Genotype in Prediction of Treatment Response in Thai Patients with Chronic Hepatitis C Virus Infection","article_path":"articles/PMC4560372.md","variant_annotation_id":1446904224,"variant_haplotypes":"rs17574","gene":"DPP4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b","pmid":26339796,"phenotype_category":"Efficacy","significance":"no","notes":"PEG-interferon alfa (2a and b) was co-adminstered with ribavirin. Response was assessed by sustained virological response (SVR) percent by genotype. Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AA is not associated with response to peginterferon alfa-2a or peginterferon alfa-2b in people with Hepatitis C, Chronic as compared to genotype AG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5871545","article_title":"Variants in the CYP2B6 3\u2032UTR alter in vitro and in vivo CYP2B6 activity: potential role of microRNAs","article_path":"articles/PMC5871545.md","variant_annotation_id":1448997609,"variant_haplotypes":"rs707265","gene":"CYP2B6","drugs":"efavirenz","pmid":28960269,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"An increase in CYP2B6 activity was also seen among volunteers carrying the variant allele G/G vs. G/A [34.2% increase; p<0.05] and A/A [72.4% increase; p<0.0001]\".","sentence":"Genotypes AA + AG are associated with increased metabolism of efavirenz in healthy individuals as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":655388251,"variant_haplotypes":"rs3734254","gene":"PPARD","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with data in pgkb, actual base not listed in paper)","sentence":"Allele T is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2480976","article_title":"UGT1A1*28 genotype and irinotecan dosage in patients with metastatic colorectal cancer: a Dutch Colorectal Cancer Group study","article_path":"articles/PMC2480976.md","variant_annotation_id":1451206845,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan","pmid":18594531,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as complete or partial tumor response according to Response Evaluation Criteria in Solid Tumors (RECIST) criteria. Non-response was defined as stable or progressive disease, also according to RECIST. Patients were treated with irinotecan monotherapy or capecitabine plus irinotecan.","sentence":"UGT1A1 *1/*28 + *28/*28 is not associated with response to irinotecan in people with Colorectal Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28 + *28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5378677","article_title":"A genetic variant in Rassf1a predicts outcome in mCRC patients treated with cetuximab plus chemotherapy: results from FIRE-3 and JACCRO 05 and 06 trials","article_path":"articles/PMC5378677.md","variant_annotation_id":1449750599,"variant_haplotypes":"rs558614","gene":"LATS2","drugs":"cetuximab","pmid":27698403,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in tumor response, progression-free survival or overall survival was seen between the genotype groups. Patients also receiving treatment with fluorouracil, leucovorin and irinotecan (FOLFIRI).","sentence":"Allele A is not associated with response to cetuximab in people with Colorectal Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5645220","article_title":"Polymorphisms in CYP2C9 are associated with response to indomethacin among neonates with patent ductus arteriosus","article_path":"articles/PMC5645220.md","variant_annotation_id":1451140040,"variant_haplotypes":"rs2153628","gene":"CYP2C9","drugs":"indomethacin","pmid":28609430,"phenotype_category":"Efficacy","significance":"yes","notes":"among neonates with patent ductus arteriosus (PDA).","sentence":"Allele G is associated with increased response to indomethacin as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC10668244","article_title":"Genotype-guided new approach for dose optimisation of hydroxychloroquine administration in Chinese patients with SLE","article_path":"articles/PMC10668244.md","variant_annotation_id":1452308585,"variant_haplotypes":"rs1065852","gene":"CYP2D6","drugs":"desethylchloroquine, hydroxychloroquine","pmid":37993281,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"In addition, polymorphism of CYP2D6*10 (rs1065852) was significantly correlated with the DHCQ:HCQ ratio in both dose groups (p=0.032 and p=0.036, respectively), and the DHCQ:HCQ ratio was lower in patients with the AA genotype compared with the GG and AG genotypes.\"","sentence":"Genotype AA is associated with decreased concentrations of desethylchloroquine and hydroxychloroquine in people with Lupus Erythematosus, Systemic as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Systemic lupus erythematosus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC524175","article_title":"Single nucleotide polymorphisms in the apolipoprotein B and low density lipoprotein receptor genes affect response to antihypertensive treatment","article_path":"articles/PMC524175.md","variant_annotation_id":655387083,"variant_haplotypes":"rs688","gene":"LDLR","drugs":"atenolol","pmid":15453913,"phenotype_category":"Efficacy","significance":"no","notes":"The presence of a C allele MAY be associated with BP reduction. Not significant.; 50 mg/ atenolol for twelve weeks.","sentence":"Genotype CC is associated with response to atenolol in people with Hypertension.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3726442","article_title":"Relationship between Genotypes Sult1a2 and Cyp2d6 and Tamoxifen Metabolism in Breast Cancer Patients","article_path":"articles/PMC3726442.md","variant_annotation_id":1444935054,"variant_haplotypes":"CYP2D6*1, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6, CYP2D6*9, CYP2D6*10, CYP2D6*17, CYP2D6*41","gene":"CYP2D6","drugs":"4-hydroxytamoxifen, N-desmethyltamoxifen, tamoxifen","pmid":23922954,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note: article provides diplotypes as wt/wt or wt/*3 etc. CYP2D6 wt includes *1, *2, *35 but the individual diplotypes concerning wt alleles are not included so compared to diplotypes are examples with *1 could be *2 or *35. Pre and postmenopausal woman with estrogen receptor-positive breast cancer undergoing tam treatment after surgery and chemotherapy/radiation. Patients were excluded if tamoxifen therapy was started with either chemotherapy or radiation, SSRI treatment was allowed. Roche-AmpliChip\u00ae CYP450 Test was used. Genotypes were classified into the three groups: wt/wt, patients with 2 or more copies of any functional allele; wt/v, patients carrying one functional allele and one variant -intermediate or null- allele; v/v, patients featuring intermediate or null alleles. [pre-menopausal][post-menopausal] [adjuvant] [DNA source: blood] [HWE: yes]","sentence":"CYP2D6 *3/*9 + *4/*4 + *4/*5 + *4/*10 + *4/*41 + *5/*17 + *5/*41 + *41/*41 are not associated with decreased concentrations of 4-hydroxytamoxifen, n-desmethyltamoxifen or tamoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*1 + *1/*3 + *1/*4 + *1/*5 + *1/*6 + *1/*9 + *1/*17 + *1/*41.","alleles":"*3/*9 + *4/*4 + *4/*5 + *4/*10 + *4/*41 + *5/*17 + *5/*41 + *41/*41","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3 + *1/*4 + *1/*5 + *1/*6 + *1/*9 + *1/*17 + *1/*41","comparison_metabolizer_types":null} +{"pmcid":"PMC4631197","article_title":"Sulfasalazine disposition in a subject with 376C>T (nonsense mutation) and 421C>A variants in the ABCG2 gene","article_path":"articles/PMC4631197.md","variant_annotation_id":1444843284,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"sulfasalazine","pmid":25872459,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"The mean AUC(0,48 h) was 3-fold higher and Cmax was 2.5-fold higher in individuals with the TT genotype as compared to individuals with the GG genotype. The apparent oral clearance (dose/ AUC(0,48 h)) was 3-fold lower in individuals with the TT genotype as compared to individuals with the GG genotype. The authors reported no differences in sulfasalazine PK between the GG genotype and GT genotype, however a single individual was compound heterozygous at rs72552713 (CT) and rs2231142 (GT) in and altered PK as compared to other individuals who were heterozygous only at rs2231142 (GT). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype TT is associated with decreased clearance of sulfasalazine in healthy individuals as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC5727167","article_title":"Identification of two novel genes SLC15A2 and SLCO1B3 associated with maintenance dose variability of warfarin in a Chinese population","article_path":"articles/PMC5727167.md","variant_annotation_id":1449157667,"variant_haplotypes":"rs1143671","gene":"SLC15A2","drugs":"warfarin","pmid":29234073,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype TT is associated with decreased dose of warfarin as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3567337","article_title":"Genome-wide study of methotrexate clearance replicates SLCO1B1","article_path":"articles/PMC3567337.md","variant_annotation_id":981483693,"variant_haplotypes":"rs4149081","gene":"SLCO1B1","drugs":"methotrexate","pmid":23233662,"phenotype_category":"Efficacy, Toxicity, Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3499361","article_title":"RHOA Is a Modulator of the Cholesterol-Lowering Effects of Statin","article_path":"articles/PMC3499361.md","variant_annotation_id":981479989,"variant_haplotypes":"rs11716445","gene":"RHOA","drugs":"pravastatin, simvastatin","pmid":23166513,"phenotype_category":"Efficacy","significance":"yes","notes":"The associated effect was on LDL Cholesterol and explained less than 1% of the variation.","sentence":"Allele A is associated with decreased response to pravastatin or simvastatin in people with Hypercholesterolemia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10483403","article_title":"Genetic polymorphisms are associated with individual susceptibility to dexmedetomidine","article_path":"articles/PMC10483403.md","variant_annotation_id":1452241060,"variant_haplotypes":"rs11739136","gene":"KCNMB1","drugs":"dexmedetomidine","pmid":37693312,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by shorter onset time. \"In our study, carriers of the minor allele (CT/TT) needed a shorter onset time than homozygous carriers of the major allele (CC) (16.60 \u00b1 15.42 vs. 23.91 \u00b1 16.47, p = 0.009). Therefore, heterozygosity or homozygosity for the minor allele T) of KCNMB1 rs11739136 resulted in more sensitizing to DXM sedation.\"","sentence":"Genotypes CC + CT is associated with increased response to dexmedetomidine in people with surgery as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:surgery","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5684285","article_title":"Influence of genetic co-factors on the population pharmacokinetic model for clopidogrel and its active thiol metabolite","article_path":"articles/PMC5684285.md","variant_annotation_id":1449002171,"variant_haplotypes":"rs12248560","gene":"CYP2C19","drugs":"clopidogrel, clopidogrel thiol metabolite H4","pmid":28914344,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Full pharmacokinetic profile was obtained from 17 subjects at 0.5, 1, 2, 3, and 4 h post clopidogrel dose. From 46 subjects samples were collected at 0.5 and 2 h or 1 and 3 h post-dose. Subjects were receiving PCI or elective coronarography.","sentence":"Allele A is not associated with exposure to clopidogrel or clopidogrel thiol metabolite H4 as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3384479","article_title":"Vitamin K antagonists in children with heart disease: height and VKORC1 genotype are the main determinants of the warfarin dose requirement","article_path":"articles/PMC3384479.md","variant_annotation_id":982047993,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":22130800,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype CC is not associated with dose of warfarin in children as compared to genotype TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC9256318","article_title":"Significance of CYP3A4\u22171G and OPRM1 A118G Polymorphisms in Postoperative Sufentanil Analgesia in Women of Different Ethnicities","article_path":"articles/PMC9256318.md","variant_annotation_id":1451838540,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"sufentanil","pmid":35799642,"phenotype_category":"Dosage","significance":"yes","notes":"rs2242480 is the defining allele for CYP3A4*36. The publication reports the finding for CYP3A4*1G. PharmVar re-assigned CYP3A4*1G to CYP3A4*36.","sentence":"Genotype CC is associated with increased dose of sufentanil in women with Pain, Postoperative as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4752391","article_title":"PHARMACOGENOMIC GENOME-WIDE META-ANALYSIS OF BLOOD PRESSURE RESPONSE TO BETA-BLOCKERS IN HYPERTENSIVE AFRICAN AMERICANS","article_path":"articles/PMC4752391.md","variant_annotation_id":1447676810,"variant_haplotypes":"rs1367094","gene":"ZMAT4","drugs":"atenolol, metoprolol","pmid":26729753,"phenotype_category":"Efficacy","significance":"yes","notes":"In African Americans.; Association found in atenolol and metoprolol monotherapy, but not validated in a atenolol plus hydrochlorothiazide therapy","sentence":"Allele T is associated with increased response to atenolol or metoprolol in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163578,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients, this variant passed validation the EA population but frequency was too low in AA population to test. Direction of effect was not stated.","sentence":"Allele A is associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2564574","article_title":"Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation","article_path":"articles/PMC2564574.md","variant_annotation_id":982044365,"variant_haplotypes":"rs8050894","gene":"VKORC1","drugs":"warfarin","pmid":16611750,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele G is associated with decreased dose of warfarin as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11393095","article_title":"Impact of CYP2D6*2, CYP2D6*35, rs5758550, and related haplotypes on risperidone clearance in vivo","article_path":"articles/PMC11393095.md","variant_annotation_id":1452519102,"variant_haplotypes":"CYP3A4*22","gene":"CYP3A4","drugs":"risperidone","pmid":38963454,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"CYP3A4*22 was; not significant as a covariate in the model (p=0.31).\"","sentence":"CYP3A4 *22 is not associated with decreased clearance of risperidone.","alleles":"*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5768901","article_title":"Tezacaftor/Ivacaftor in Subjects with Cystic Fibrosis and F508del/F508del-CFTR or F508del/G551D-CFTR","article_path":"articles/PMC5768901.md","variant_annotation_id":1449192671,"variant_haplotypes":"rs75527207","gene":"CFTR","drugs":"ivacaftor, tezacaftor","pmid":28930490,"phenotype_category":"Efficacy","significance":"yes","notes":"G551D allele. Significant improvements in sweat chloride level, ppFEV1 and CFQ-R scores were observed in the efficacy testing phase.","sentence":"Allele A is associated with response to ivacaftor and tezacaftor in people with Cystic Fibrosis.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6489578","article_title":"VKORC1 variants as significant predictors of warfarin dose in Emiratis","article_path":"articles/PMC6489578.md","variant_annotation_id":1451589762,"variant_haplotypes":"rs7294","gene":"VKORC1","drugs":"warfarin","pmid":31114289,"phenotype_category":"Dosage","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes CT + TT are associated with increased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC1755496","article_title":"Polymorphism at position \u2013308 of the tumour necrosis factor \u03b1 gene and rheumatoid arthritis pharmacogenetics","article_path":"articles/PMC1755496.md","variant_annotation_id":1444668415,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"infliximab","pmid":15834068,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the GG genotype had a significantly greater decrease in the Disease Activity Score in 28 joints (DAS28) score as compared to those with the AG genotype (no patients with the AA genotype were present in the cohort) after a mean of 24.8 months of treatment. The authors also noted a tendency of a better Health Assessment Questionnaire (HAQ) evolution (p=0.064), but no significant difference in radiological outcome (Sharp score).","sentence":"Genotype GG is associated with increased response to infliximab in people with Arthritis, Rheumatoid as compared to genotype AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5546852","article_title":"Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention","article_path":"articles/PMC5546852.md","variant_annotation_id":1448617627,"variant_haplotypes":"rs11868513","gene":"HNF1B","drugs":"metformin","pmid":28453780,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects were at high risk of diabetes and were recruited from Diabetes Prevention Program (DPP) and were followed for a year. The authors measured changes in response to insulin at baseline and one year after treatment. Subjects with the AA genotypes had the highest diabetes incidence in the placebo group but had a significant response to metformin. Subjects with the AG genotype had lower diabetes incidence rates than subjects with the AA genotype, but incidence of diabetes were significantly associated with lifestyle changes or metformin. Diabetes incidence rates were lower in subjects with the GG genotype with lifestyle intervention (P<0.001) but not by metformin (P=0.2) as compared with placebo.","sentence":"Genotypes AA + AG are associated with increased response to metformin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4828529","article_title":"Influence of genetic polymorphisms in the folate pathway on toxicity after high-dose methotrexate treatment in pediatric osteosarcoma","article_path":"articles/PMC4828529.md","variant_annotation_id":1451547000,"variant_haplotypes":"rs1801133","gene":"CLCN6, MTHFR","drugs":"methotrexate","pmid":27104192,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with concentrations of methotrexate in children with Osteosarcoma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC1762324","article_title":"A Proof-Of-Principle Study of Epigenetic Therapy Added to Neoadjuvant Doxorubicin Cyclophosphamide for Locally Advanced Breast Cancer","article_path":"articles/PMC1762324.md","variant_annotation_id":1451138920,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"hydralazine","pmid":17183730,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Note, NAT2 not specified just categorized in slow and rapid acetylator. Patients received a single oral 500-mg dose (two 250-mg tablets) of sulfamethazine and urine was collected within the ensuing 6 h for acetylator status phenotyping. Afterward, patients began treatment (day \u20137) with a daily dose of a slow-release formulation of hydralazine tablets containing either 182 mg for rapid-acetylators or 83 mg for slow- acetylators. Plasmatic levels of hydralazine were analyzed in 10 patients in whom plasma samples were available at different time-points during treatment. Distribution of these patients according to acetylator phenotype was four and six for slow and rapid, respectively. Mean plasma levels of hydralazine ranged from 204.8\u2013275.1 ng/mL for rapid-acetylators, whereas these mean values were 252.1\u2013344.2 ng/mL in slow- acetylators. Overall means were 246 and 299 ng/mL, respectively, which were not statistically significant different (p = 0.2445). The subjects received also other drugs to treat neoplasms.","sentence":"NAT2 slow acetylator is associated with decreased metabolism of hydralazine in people with Neoplasms as compared to NAT2 rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"rapid acetylator"} +{"pmcid":"PMC5520553","article_title":"Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma","article_path":"articles/PMC5520553.md","variant_annotation_id":1448820562,"variant_haplotypes":"rs3805716","gene":"C6","drugs":"tacrolimus","pmid":28685716,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference was seen when considering DONOR genotype at week 4 of treatment. Patients with hepatocellular carcinoma.","sentence":"Genotype AA is not associated with dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotypes AT + TT.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC9536193","article_title":"Germline Polymorphisms as Biomarkers of Tumor Response in Colorectal Cancer Patients Treated with Anti-EGFR Monoclonal Antibodies: A Systematic Review and Meta-Analysis","article_path":"articles/PMC9536193.md","variant_annotation_id":1449165388,"variant_haplotypes":"rs4073","gene":"CXCL8","drugs":"cetuximab, panitumumab","pmid":27897268,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis with 3 studies. The authors did not provide the exact number of patients but stated that \"the median number of patients per analysis was 110 (range 50 - 740)\". Most definitions of response were variations of the RECIST criteria.","sentence":"Allele T is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC10972729","article_title":"The role of polymorphic cytochrome P450 gene (CYP2B6) in B-chronic lymphocytic leukemia (B-CLL) incidence and outcome among Egyptian patients","article_path":"articles/PMC10972729.md","variant_annotation_id":1452439020,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"cyclophosphamide","pmid":38560574,"phenotype_category":"Efficacy","significance":"yes","notes":"\" In contrast to patients with the GG genotype, who were classified as 83% responders, 14.5% non-responders, and 2.5%) no responders, patients carrying variant genotypes (GT + TT) were classified as (37.5% responders, 58.5% non-responders, and 4% toxic death). Based on the data in Table S2, we found that there was a significant (p < 0.001) association between the variant genotypes and response failure.\"","sentence":"Genotype GG is associated with increased clinical benefit to cyclophosphamide in people with Leukemia, Lymphocytic, Chronic, B-Cell as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Leukemia, Lymphocytic, Chronic, B-Cell","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4307337","article_title":"Capability of Utilizing CYP3A5 Polymorphisms to Predict Therapeutic Dosage of Tacrolimus at Early Stage Post-Renal Transplantation","article_path":"articles/PMC4307337.md","variant_annotation_id":1444694284,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":25594874,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The dose-adjusted trough concentrations of tacrolimus on the first day of tacrolimus administration (pre-transplantation) was 70% higher for those with the CC genotype (\"poor metabolizers\") as compared to those with the CT or TT genotype (\"extensive metabolizers\").","sentence":"Genotype CC is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC2647710","article_title":"Association between glucokinase regulatory protein (GCKR) and apolipoprotein A5 (APOA5) gene polymorphisms and triacylglycerol concentrations in fasting, postprandial, and fenofibrate-treated states1","article_path":"articles/PMC2647710.md","variant_annotation_id":982044657,"variant_haplotypes":"rs780094","gene":"GCKR","drugs":"fenofibrate","pmid":19056598,"phenotype_category":"Efficacy","significance":"not stated","notes":"When combined with EITHER rs662799 AG + GG genotypes, OR rs3135506 CG + GG genotypes. This combined genotype group is associated with a greater reduction in triacylglycerol concentrations between baseline and 3 weeks of treatment, as compared to any other genotype combination. Adjusted for baseline triacylglycerol.","sentence":"Genotypes CT + TT are associated with increased response to fenofibrate in people with Hypertriglyceridemia.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4199712","article_title":"Effects of Cytochrome P450 2C19 and Paraoxonase 1 Polymorphisms on Antiplatelet Response to Clopidogrel Therapy in Patients with Coronary Artery Disease","article_path":"articles/PMC4199712.md","variant_annotation_id":1184990053,"variant_haplotypes":"rs662","gene":"PON1","drugs":"clopidogrel","pmid":25329996,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to clopidogrel in people with Coronary Artery Disease as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166275,"variant_haplotypes":"rs1061735","gene":"ESYT2","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele G is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4199712","article_title":"Effects of Cytochrome P450 2C19 and Paraoxonase 1 Polymorphisms on Antiplatelet Response to Clopidogrel Therapy in Patients with Coronary Artery Disease","article_path":"articles/PMC4199712.md","variant_annotation_id":1184990030,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"clopidogrel","pmid":25329996,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"CYP2C19 *2 is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to CYP2C19 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376546,"variant_haplotypes":"rs3746544","gene":"SNAP25","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"yes","notes":"For the genetic component, in the CGI-S model, a dominant effect in SNAP25 rs3746544 was found with a significant improvement in the symptoms. Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Genotypes GG + GT are associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotype TT.","alleles":"GG + GT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC6462825","article_title":"Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort","article_path":"articles/PMC6462825.md","variant_annotation_id":1449164037,"variant_haplotypes":"rs11168293","gene":"VDR","drugs":"warfarin","pmid":29298995,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP is in very tight linkage disequilibrium with rs11168292 and rs4760658 (r2>0.97). Mean dose (in mg) of warfarin according to genotype was: TT>GT>GG. p-value adjusted for CYP2C9 metabolizer status and VKORC1 activity status phenotypes, among other factors. Warfarin dose requirement was defined as the reported daily dose at 3 months following treatment initiation.","sentence":"Genotype TT is associated with increased dose of warfarin as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC3603284","article_title":"Discordant Associations between SLCO1B1 521T\u2192C and Plasma Levels of Ritonavir-boosted Protease Inhibitors in AIDS Clinical Trials Group Study A5146","article_path":"articles/PMC3603284.md","variant_annotation_id":1451115920,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"saquinavir","pmid":23503447,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with trough concentration of saquinavir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC10668502","article_title":"Impact of IL6R genetic variants on treatment efficacy and toxicity response to sarilumab in rheumatoid arthritis","article_path":"articles/PMC10668502.md","variant_annotation_id":1452308780,"variant_haplotypes":"rs4845625","gene":"IL6R","drugs":"sarilumab","pmid":38001504,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Patients carrying the CC genotype for rs4845625 had worse response rates to sarilumab as measured by CDAI and DAS28 LDA rates (45.5% and 52.4% vs. 76.7% and 80% in the CT\u2009+\u2009TT genotypes, respectively; p\u2009=\u20090.021 and p\u2009=\u20090.037).\"","sentence":"Genotype CC is associated with decreased response to sarilumab in people with Arthritis, Rheumatoid as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5753622","article_title":"Effect of genetic variation in UGT1A and ABCB1 on moxifloxacin pharmacokinetics in South African patients with tuberculosis","article_path":"articles/PMC5753622.md","variant_annotation_id":1451214860,"variant_haplotypes":"UGT1A1*1, UGT1A1*28, UGT1A1*36, UGT1A1*37","gene":"UGT1A1","drugs":"moxifloxacin","pmid":29210323,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Having the TA 5/6 repeat in rs8175347 was associated with a 20.6% lower clearance and approximately 26% higher AUC, after adjusting for other covariates (such as efavirenz and/or rifampicin co-administration) compared with those with TA 6/6, 6/7, 7/7 and 7/8\"","sentence":"UGT1A1 *1/*36 is associated with decreased clearance of moxifloxacin in people with Tuberculosis as compared to UGT1A1 *1/*1 + *1/*28 + *28/*28 + *28/*37.","alleles":"*1/*36","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*28 + *28/*28 + *28/*37","comparison_metabolizer_types":null} +{"pmcid":"PMC3213989","article_title":"RUNX transcription factors: association with pediatric asthma and modulated by maternal smoking","article_path":"articles/PMC3213989.md","variant_annotation_id":827788970,"variant_haplotypes":"rs11702779","gene":"RUNX1","drugs":"methacholine chloride","pmid":21803869,"phenotype_category":"Other","significance":"yes","notes":"This is for children without prenatal tobacco exposure.","sentence":"Genotype AA is associated with increased response to methacholine chloride in children with Asthma as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4375304","article_title":"Inherited NUDT15 Variant Is a Genetic Determinant of Mercaptopurine Intolerance in Children With Acute Lymphoblastic Leukemia","article_path":"articles/PMC4375304.md","variant_annotation_id":1444703361,"variant_haplotypes":"rs116855232","gene":"NUDT15","drugs":"mercaptopurine","pmid":25624441,"phenotype_category":"Dosage","significance":"yes","notes":"Decreased dosage was likely to be due to increased toxicity. The authors also calculated a genetic risk score based on genotype at rs1142345 and at rs116855232. Patients who were homozygous wild-type at both SNPs had the lowest genetic risk score and patients who were homozygous for the variant allele at either SNP had the highest genetic risk score. There was an inverse significant association between genetic risk score and dose reduction of mercaptopurine.","sentence":"Genotype TT is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC8163522","article_title":"COMT Genotype and Efficacy of Propranolol for TMD Pain: A Randomized Trial","article_path":"articles/PMC8163522.md","variant_annotation_id":1451359880,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"propranolol","pmid":33030089,"phenotype_category":"Efficacy","significance":"no","notes":"More patients with the GG genotype reported a \u226530% reduction in facial pain index at week 9 of treatment than AA patients. However, this association was not significant.","sentence":"Genotype GG is associated with increased response to propranolol in people with Temporomandibular joint-pain-dysfunction syndrome as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Temporomandibular joint dysfunction syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672884,"variant_haplotypes":"rs145157460","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is associated with decreased metabolism of nicotine as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3461592","article_title":"Effect of the VKORC1 D36Y variant on warfarin dose requirement and pharmacogenetic dose prediction","article_path":"articles/PMC3461592.md","variant_annotation_id":981239905,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":22871975,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with increased dose of warfarin in people with warfarin maintenance treatment as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:warfarin maintenance treatment","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3682424","article_title":"A preliminary pharmacogenetic investigation of adverse events from topiramate in heavy drinkers","article_path":"articles/PMC3682424.md","variant_annotation_id":1184749254,"variant_haplotypes":"rs2832407","gene":"GRIK1","drugs":"topiramate","pmid":19331489,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"75.5% of participants met the criteria for an alcohol use disorder. At target dose (week 5 of treatment), carriers of the A allele had higher serum topiramate levels as compared to those with the CC genotype. No association was seen with dose.","sentence":"Genotypes AA + AC is associated with increased concentrations of topiramate in people with Alcohol-Related Disorders as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166331,"variant_haplotypes":"rs757978","gene":"FARP2","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2715837","article_title":"G-Protein-Coupled Receptor Kinase 4 Polymorphisms and Blood Pressure Response to Metoprolol Among African Americans: Sex-Specificity and Interactions","article_path":"articles/PMC2715837.md","variant_annotation_id":827864069,"variant_haplotypes":"rs1024323","gene":"GRK4","drugs":"metoprolol","pmid":19119263,"phenotype_category":"Efficacy","significance":"no","notes":"This effect was only statistically significant in men, even when stratifying for rs2960306 genotype. Response was measured by time to reach a mean arterial pressure of < or = 107 mm Hg.","sentence":"Genotype CC is not associated with decreased response to metoprolol in women with hypertensive nephrosclerosis as compared to genotype TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:hypertensive nephrosclerosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC11605493","article_title":"Genetic polymorphisms to identify patients with an optimal response to tildrakizumab in psoriasis patients from real\u2010life clinical practice","article_path":"articles/PMC11605493.md","variant_annotation_id":1452554422,"variant_haplotypes":"rs9373839","gene":"ATG5","drugs":"tildrakizumab","pmid":39081053,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Our data also suggest that patients carrying the genotype GG for rs610604 (TNFAIP3), CTGT/\u2212 for rs72167053 (PDE4D) and CT for rs9373839 (ATG5) had a higher probability to not achieve PASI \u22641 after 12\u2009months of tildrakizumab treatment, while those with CT for rs708567 (IL17RC) have a higher chance to have an optimal response to this treatment.\"","sentence":"Genotype CT is associated with decreased clinical benefit to tildrakizumab in people with Psoriasis as compared to genotypes CC + TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4155516","article_title":"Voriconazole plasma concentrations in immunocompromised pediatric patients vary by CYP2C19 diplotypes","article_path":"articles/PMC4155516.md","variant_annotation_id":1184748497,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":25084200,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"No significant difference in trough concentrations (adjusted for daily dose) was observed. CYP2C19*17 was defined as rs12248560 c.-806C>T, *2A as rs4244285 c.681G>A, *2B as rs4244285 and rs17878459 c.276G>C, and *1 as none of these variants.","sentence":"CYP2C19 *1/*17 (assigned as ultrarapid metabolizer phenotype) is not associated with dose-adjusted trough concentrations of voriconazole in children with Neoplasms as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*1/*17","specialty_population":"Pediatric","metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3384479","article_title":"Vitamin K antagonists in children with heart disease: height and VKORC1 genotype are the main determinants of the warfarin dose requirement","article_path":"articles/PMC3384479.md","variant_annotation_id":982047897,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":22130800,"phenotype_category":"Dosage","significance":"yes","notes":"Children with at least one variant VKORC1 allele required significantly decreased doses as compared with wild type patients. Weekly maintenance doses in wild type patients (CC) were significantly higher (32 mg) than heterozygotes (CT) (23 mg) and individuals with two variant alleles (TT) (10.6 mg). In a multivariate analysis VKORC1 genotype accounted for 18.2% of the interindividual variability observed with warfarin dose. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is associated with decreased dose of warfarin in children as compared to genotype CC.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC8880478","article_title":"Effect of GSTA1 Variants on Busulfan-Based Conditioning Regimen Prior to Allogenic Hematopoietic Stem-Cell Transplantation in Pediatric Asians","article_path":"articles/PMC8880478.md","variant_annotation_id":1452480768,"variant_haplotypes":"rs3957356","gene":"GSTA1","drugs":"busulfan","pmid":35214132,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"The carriers of the variant allele GSTA1*B had a lower CL, which in turn reduced the elimination of busulfan; this was associated with increased AUC.\" There are two variants C-69T (rs3957357) and G-52A (rs3957356) which combine to form *A and *B alleles where -69C, -52G, designated as GSTA1*A; -69T, -52A, designated as GSTA1*B.","sentence":"Allele T is associated with decreased clearance of busulfan in children with hematopoietic stem cell transplantation as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Hematopoietic stem cell transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375609,"variant_haplotypes":"rs79663562","gene":"MYT1L","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele C is associated with decreased response to allopurinol as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC8132880","article_title":"First genome-wide association study on rocuronium dose requirements shows association with SLCO1A2","article_path":"articles/PMC8132880.md","variant_annotation_id":1451404202,"variant_haplotypes":"rs11045995","gene":"IAPP, SLCO1A2","drugs":"rocuronium","pmid":33676726,"phenotype_category":"Dosage","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. Although this association is significant on its own, the authors state that the decrease in dosage requirements is best explained by the combination of the CC genotype at this position with the CC genotype at rs7967354.","sentence":"Genotype CC is associated with decreased dose of rocuronium in women as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359260,"variant_haplotypes":"rs11575553","gene":"DDC","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele A is not associated with response to heroin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5749368","article_title":"Genetics and clinical response to warfarin and edoxaban in patients with venous thromboembolism","article_path":"articles/PMC5749368.md","variant_annotation_id":1449005283,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":28689179,"phenotype_category":"Dosage","significance":"yes","notes":"CYP2C9 and VKORC1 variants are analyzed together to divide patients into three warfarin sensitivity types (normal, sensitive and highly sensitive). \"Warfarin sensitive and highly sensitive responders had heparin therapy discontinued earlier (p<0.001), had a decreased final weekly warfarin dose (p<0.001), spent more time over-anticoagulated (p<0.001) and had an increased bleeding risk with warfarin (sensitive responders HR 1.38 [95% CI 1.11 to 1.71], p=0.0035; highly sensitive responders 1.79 [1.09 to 2.99]; p=0.0252).\"","sentence":"Genotype TT is associated with decreased dose of warfarin in people with venous thromboembolism as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Venous thromboembolism","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449715993,"variant_haplotypes":"rs1153702","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC10668244","article_title":"Genotype-guided new approach for dose optimisation of hydroxychloroquine administration in Chinese patients with SLE","article_path":"articles/PMC10668244.md","variant_annotation_id":1452308548,"variant_haplotypes":"rs10882521","gene":"CYP2C8","drugs":"desethylchloroquine, hydroxychloroquine","pmid":37993281,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The T allele of CYP2C8 (rs10882521) was related to lower HCQ (p=0.009) and DCQ (p=0.008). \"","sentence":"Allele T is associated with decreased concentrations of desethylchloroquine or hydroxychloroquine in people with Lupus Erythematosus, Systemic as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Systemic lupus erythematosus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3673300","article_title":"Fixed dose capecitabine is feasible: results from a pharmacokinetic and pharmacogenetic study in metastatic breast cancer","article_path":"articles/PMC3673300.md","variant_annotation_id":1183682292,"variant_haplotypes":"rs11075646","gene":"CES2","drugs":"capecitabine","pmid":23588952,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant differences in the area under the concentration-time curve from 0 to infinity (AUCinf) were seen between any of the genotypes (CC, CG, GG). Nor were any significant differences seen between these genotypes when considering the capecitabine metabolites 5'-DFCR, 5'-DFUR or 5'FU (5'-fluorouracil).","sentence":"Allele C is not associated with metabolism of capecitabine in people with Breast Neoplasms as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3384479","article_title":"Vitamin K antagonists in children with heart disease: height and VKORC1 genotype are the main determinants of the warfarin dose requirement","article_path":"articles/PMC3384479.md","variant_annotation_id":982047927,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"fluindione","pmid":22130800,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT is associated with dose of fluindione in children as compared to genotype CC.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4814312","article_title":"Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study","article_path":"articles/PMC4814312.md","variant_annotation_id":1447813633,"variant_haplotypes":"rs79663003","gene":null,"drugs":"lithium","pmid":26806518,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients had been taking lithium for at least 6 mo. Response to lithium was assayed using the Alda scale, which quantifies symptom improvement over time. The scale is from 0-10, with 10 being the highest response score and 0 being the lowest. The authors evaluated response using a dichotomous (=7 is \"responder\" and < 7 is \"non-responder\") and a continuous phenotype (0-10). This SNP was found to be associated with improved response to lithium using the continuous phenotype but not the dichotomous phenotype measure. The association was confirmed in an independent prospective study of 73 patients. This is one of four SNPs in LD that show association (rs79663003, rs78015114, rs74795342, rs75222709).","sentence":"Allele T is associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4574839","article_title":"Progressive decline in tacrolimus clearance after renal transplantation is partially explained by decreasing CYP3A4 activity and increasing haematocrit","article_path":"articles/PMC4574839.md","variant_annotation_id":1447673991,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"midazolam","pmid":26114223,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Correcting for methylprednisone dose and type of calcineurin inhibitor (i.e. tacrolimus or cyclosporine).","sentence":"CYP3A4 *1/*22 is associated with decreased clearance of midazolam in people with Kidney Transplantation as compared to CYP3A4 *1/*1.","alleles":"*1/*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC3902809","article_title":"Clinical Impact of Cytochrome P450 2C19 Genotype on the Treatment of Invasive Aspergillosis under Routine Therapeutic Drug Monitoring of Voriconazole in a Korean Population","article_path":"articles/PMC3902809.md","variant_annotation_id":1444827966,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":24475354,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Heterozygous extensive (*1/*2, *1/*3) metabolizers had increased trough levels of voriconazole as compared to extensive (*1/*1, *1/*17) metabolizers. The initial voriconazole trough concentrations were 1.8, 2.7, 3.2 mg/L in EM, HEM, and PM, respectively. There was no significant difference when comparing all 3 groups however (p=0.068).","sentence":"CYP2C19 *1/*2 + *1/*3 (assigned as intermediate metabolizer phenotype) is associated with increased trough concentration of voriconazole in people with Hematologic Diseases and Infection as compared to CYP2C19 *1/*1 + *1/*17 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*3","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hematologic Disorder, Disease:Infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"*1/*1 + *1/*17","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113800,"variant_haplotypes":"rs1381376","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy. Note that this is a A/C/G/T SNP. Based on allele frequencies reported by dbSNP, it is assumed that the major allele in this study is C and the minor allele is A. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4000411","article_title":"Conversion from twice- to once-daily tacrolimus in pediatric kidney recipients: a pharmacokinetic and bioequivalence study","article_path":"articles/PMC4000411.md","variant_annotation_id":1444694176,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":24435759,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Note that this was only significant in children taking tacrolimus in twice-daily formulation (Prograf), no significant results were seen for children taking tacrolimus in once-daily formulation (Advagraf; p=0.1). Additionally, no significant results were seen when considering dose-adjusted 0-24 hour area under the tacrolimus concentration-time curve for twice-daily or once-daily formulations (AUC0-24/dose; p=0.07, p=0.1) or dose-adjusted maximum whole-blood tacrolimus concentration for twice-daily or once-daily formulations (Cmax/dose; p=0.54, p=0.28).","sentence":"Genotypes CT + TT is associated with decreased dose-adjusted trough concentrations of tacrolimus in children with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896003,"variant_haplotypes":"rs7802493","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit). Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Allele C is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4833150","article_title":"Genetic markers in CYP2C19 and CYP2B6 for prediction of cyclophosphamide's 4\u2010hydroxylation, efficacy and side effects in Chinese patients with systemic lupus erythematosus","article_path":"articles/PMC4833150.md","variant_annotation_id":1446907684,"variant_haplotypes":"rs4803419","gene":"CYP2B6","drugs":"cyclophosphamide","pmid":26456622,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This SNP had a small effect on cyclophosphamide (CPA) metabolite plasma concentrations (4-OH-CPA), but did not reach significance (Bonferroni corrected p-value= 0.0056).","sentence":"Allele T is not associated with metabolism of cyclophosphamide in people with as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3925114","article_title":"Therapeutic Drug Monitoring and Pharmacogenetic Study of HIV-Infected Ethnic Chinese Receiving Efavirenz-Containing Antiretroviral Therapy with or without Rifampicin-Based Anti-Tuberculous Therapy","article_path":"articles/PMC3925114.md","variant_annotation_id":1184472014,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":24551111,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the TT genotype had higher plasma efavirenz concentrations compared to patients with the GG genotype: 2.50 mg/L [0.98-10.00] for GG genotype vs 8.78 mg/L [4.77-10.00] for TT genotype; P=0.005.","sentence":"Genotype TT is associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT","comparison_metabolizer_types":null} +{"pmcid":"PMC10381361","article_title":"Pilot Study: Personalized Medicine in Endoscopy, Can Pharmacogenomics Predict Response to Conscious Sedation?","article_path":"articles/PMC10381361.md","variant_annotation_id":1452197202,"variant_haplotypes":"CYP3A5 poor metabolizer","gene":"CYP3A5","drugs":"fentanyl, meperidine, midazolam","pmid":37511720,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Patients were divided into two groups based on sedation requirements during endoscopy (high vs. normal sedation). The high sedation requirement group was defined by a sedation requirement of midazolam >10 mg, fentanyl >100 mcg, meperidine >100 mg, or an aborted procedure due to failed moderate sedation and/or the transition to propofol sedation to complete the procedure. The normal sedation requirement group was defined as the complete absence of the above conditions that define the high sedation requirement group.\" \"Patients with reduced CYP2C19 metabolism (poor + intermediate metabolizers) (OR = 0.38, 95% CI: 0.16\u20130.91, p = 0.03), poor CYP3A5 metabolism (OR = 0.25, 95% CI: 0.095\u20130.65, p = 0.0046), and poor UGT1A1 (OR = 2.76, 95% CI: 1.07\u20137.13, p = 0.08) had higher odds of requiring normal sedation compared to those with CYP2C19 increased metabolism, CYP3A5 intermediate metabolism, and UGT1A1 intermediate metabolism\"","sentence":"CYP3A5 poor metabolizer is associated with decreased dose of fentanyl, meperidine or midazolam in people with sedation as compared to CYP3A5 intermediate metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:sedation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer"} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896213,"variant_haplotypes":"rs506546","gene":"CSMD2","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele T is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003438,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There is no association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: GG+AG (0.45 (0.09\u201341.63)) vs. AA (0.37 (0.12\u20133.91)). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotypes AG + GG are not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4350512","article_title":"Genetic markers associated with abstinence length in alcohol-dependent subjects treated with acamprosate","article_path":"articles/PMC4350512.md","variant_annotation_id":1184988683,"variant_haplotypes":"rs2160734","gene":"GRIN2B","drugs":"acamprosate","pmid":25290263,"phenotype_category":"Efficacy","significance":"no","notes":"Tag SNPs (518 total) were selected within genes associated with alcoholism as well as genes encoding enzymes involved in glycine metabolism, glycine transporters, subunits of glycine receptors, NMDA receptors, genes involved in glutamate reuptake, synthesis or degradation and genes with reported associations with acamprosate treatment outcomes in human or animal studies. The length of time to first alcohol use \u201csurvival analysis method\u201d was used to examine associations between clinical variables and genetic markers with efficacy of acomprasate (its ability to length the duration of abstinence from alcohol). The analyses were replicated in a subset of 110 participants from PREDICT, a double-blind randomized controlled trial that compared treatment outcomes including length of abstinence among alcohol- dependent subjects of German descent recruited from inpatient facilities and treated with acamprosate, naltrexone or placebo for 3 months.","sentence":"Allele C is not associated with response to acamprosate in people with Alcoholism as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703731,"variant_haplotypes":"rs113095083","gene":"ILKAP","drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in diastolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele C is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928170,"variant_haplotypes":"rs1176713","gene":"HTR3A","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to risperidone in people with Schizophrenia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC11512548","article_title":"Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation","article_path":"articles/PMC11512548.md","variant_annotation_id":1452688940,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":39465171,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. This was seen for both donor and recipient: For donor \"Among CYP3A5 rs776746 carriers, those with AA/AG genotypes have been observed to have lower Tac C/D ratios than GG genotype carriers at weeks 1, 2, 3, 4 (p = 0.005, 0.007, 0.002, <0.001, respectively)\" \"Tac C/D ratios of recipient CYP3A5 rs776746 AA/AG carriers were significantly lower than GG carriers at all investigated time points (p = 0.001, 0.006, 0.005, 0.003, respectively).\"","sentence":"Genotypes CT + TT is associated with decreased concentrations of tacrolimus in people with Liver transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5908314","article_title":"Pharmacogenetics-based area-under-curve model can predict efficacy and adverse events from axitinib in individual patients with advanced renal cell carcinoma","article_path":"articles/PMC5908314.md","variant_annotation_id":1449310621,"variant_haplotypes":"rs35305980","gene":"OR2B11","drugs":"axitinib","pmid":29682213,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors develop a prediction model and calculated area under the concentration curve (AUC) using 6 SNPs (rs17868323, rs3832043, rs2231142, rs2032582, rs1045642, rs35305980) was compared with actual AUC in 16 patients prospectively which significantly correlated with the objective response rate (P = 0.0002), hand-foot syndrome, P = 0.0055 and hypothyroidism, P = 0.0381, and correlated with actual AUC (P < 0.0001) - the validation study, calculated AUC prior to axitinib treatment precisely predicted actual AUC after axitinib treatment (P = 0.0066).","sentence":"Allele A is associated with concentrations of axitinib in people with Carcinoma, Renal Cell as compared to allele del.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} +{"pmcid":"PMC5949564","article_title":"NUDT15 R139C Variants Increase the Risk of Azathioprine-Induced Leukopenia in Chinese Autoimmune Patients","article_path":"articles/PMC5949564.md","variant_annotation_id":1449750697,"variant_haplotypes":"rs1142345","gene":"TPMT","drugs":"thioguanine","pmid":29867468,"phenotype_category":"Metabolism/PK","significance":"no","notes":"after treatment with azathioprine and 6-TGN was not significantly different between patients with leukopenia or the controls.","sentence":"Allele C is not associated with concentrations of thioguanine in people with Autoimmune Diseases, Lupus Erythematosus, Systemic and Sjogren's Syndrome as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Autoimmune Diseases, Disease:Systemic lupus erythematosus, Disease:Sjogren's Syndrome","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC9608913","article_title":"Hyper-responsiveness to warfarin in a young patient with the VKORC1 -1639GA/CYP2C9*1*46 genotype: a case report","article_path":"articles/PMC9608913.md","variant_annotation_id":1451927120,"variant_haplotypes":"CYP2C9*1, CYP2C9*46","gene":"CYP2C9","drugs":"warfarin","pmid":36303140,"phenotype_category":"Dosage","significance":"no","notes":"in a case study.","sentence":"CYP2C9 *1/*46 is associated with decreased dose of warfarin.","alleles":"*1/*46","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4456129","article_title":"Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity","article_path":"articles/PMC4456129.md","variant_annotation_id":1444695419,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"methadone","pmid":25556837,"phenotype_category":"Dosage","significance":"no","notes":"Methadone maintenance dose was not associated with genotype of the SNP but it was correlated to the highest dose ever used. Multiple doses versus single dose, body weight, history of cocaine dependence and ethnicity (Asian>Caucasian>African) were independently associated with methadone dose in multiple regression analysis.","sentence":"Allele A is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC1978168","article_title":"The Effect of CYP2D6 polymorphisms on the Response to Pain Treatment for Pediatric Sickle Cell Pain Crisis","article_path":"articles/PMC1978168.md","variant_annotation_id":982046937,"variant_haplotypes":"CYP2D6*1, CYP2D6*40","gene":"CYP2D6","drugs":"codeine","pmid":17517247,"phenotype_category":"Efficacy","significance":"yes","notes":"Pediatric patients with severe sickle cell disease who have failed codeine therapy for a pain crisis while taking hydroxyurea were found to be more likely to have a reduced function allele (including *4, *5, *6, *17, *40) as compared to those with mild disease, likely due to a decreased conversion of codeine to morphine. Allele frequencies were not reported. Reduced function alleles were grouped for analysis.","sentence":"CYP2D6 *40 is associated with decreased response to codeine in children with Anemia, Sickle Cell as compared to CYP2D6 *1.","alleles":"*40","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Anemia, Sickle Cell","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811671,"variant_haplotypes":"rs553202","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. The T allele was associated with increased scores in the dizzy, drunk, high, nausea, terrible and uncomfortable traits on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele T is associated with increased response to ethanol as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2042888","article_title":"Characterization of the human cytochrome P450 enzymes involved in the metabolism of dihydrocodeine","article_path":"articles/PMC2042888.md","variant_annotation_id":1451152920,"variant_haplotypes":"CYP2D6*1, CYP2D6*4","gene":"CYP2D6","drugs":"dihydrocodeine","pmid":9431830,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Study of dihydrocodeine metabolism in liver microsomes from three subjects identified as *1/*1, two *1/*4, one phenotyped as a normal metabolizer but no genotype given and one with the *4/*4 genotype, who was designated the only poor metabolizer in the group.CLint of the poor metabolizer was found to be <10% of that in the group of six normal metabolizers.","sentence":"CYP2D6 *4/*4 is associated with decreased metabolism of dihydrocodeine as compared to CYP2D6 *1/*1 + *1/*4.","alleles":"*4/*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*4","comparison_metabolizer_types":null} +{"pmcid":"PMC4762905","article_title":"Polymorphisms in the ABCB1 gene and effect on outcome and toxicity in childhood acute lymphoblastic leukemia","article_path":"articles/PMC4762905.md","variant_annotation_id":1445297279,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"doxorubicin, methotrexate, prednisolone, vincristine","pmid":25582575,"phenotype_category":"Efficacy","significance":"no","notes":"No statistically significant differences in relapse risk were found between the alleles or genotypes of rs1128503. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with resistance to doxorubicin, methotrexate, prednisolone and vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7319006","article_title":"Influence of SLCO1B1 polymorphisms on lopinavir C trough in Serbian HIV/AIDS patients","article_path":"articles/PMC7319006.md","variant_annotation_id":1451116340,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"lopinavir","pmid":32022294,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele C is associated with increased trough concentration of lopinavir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4833149","article_title":"The pharmacokinetic and pharmacodynamic interaction of clopidogrel and cilostazol in relation to CYP2C19 and CYP3A5 genotypes","article_path":"articles/PMC4833149.md","variant_annotation_id":1446906082,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"clopidogrel","pmid":26426352,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"when clopidogrel is administered in combination with cilostazole. The authors observed no differences in AUC (ng*hr/ml) or Cmax (ng/ml) values of clopidogrel thiol metabolite when comparing between *1/*3 and *3/*3 diplotypes within the same treatment group. Differences in clopidogrel thiol metabolite concentrations were observed when comparing between treatment groups. When clopidogrel and cilostazole were co-administered, this caused a decrease in Cmax (ng/ml) and AUC (ng*hr/ml) within the CYP3A5 *1/*3 group as compared to when clopidogrel was administered alone.","sentence":"CYP3A5 *1/*3 (assigned as intermediate metabolizer phenotype) is associated with metabolism of clopidogrel in healthy individuals.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5485718","article_title":"Genomewide Association Study Identifies Novel Genetic Loci That Modify Antiplatelet Effects and Pharmacokinetics of Clopidogrel","article_path":"articles/PMC5485718.md","variant_annotation_id":1448624885,"variant_haplotypes":"rs12456693","gene":"SLC14A2","drugs":"clopidogrel","pmid":27981573,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The CT genotype was associated with increased active metabolite H4 concentration. However, it was not statistically significant.","sentence":"Genotype CT is associated with increased metabolism of clopidogrel as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC10377184","article_title":"DRD2, DRD3, and HTR2A Single-Nucleotide Polymorphisms Involvement in High Treatment Resistance to Atypical Antipsychotic Drugs","article_path":"articles/PMC10377184.md","variant_annotation_id":1452200420,"variant_haplotypes":"rs7997012","gene":"HTR2A","drugs":"antipsychotics","pmid":37509727,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The HTR2A rs7997012 A|G vs. A|A genotype (OR = 6.859; B = 1.926; p = 0.046), and; A|G vs. G|G genotype (OR = 2.879; B = 1.057; p = 0.041) significantly predicted the HTR; group membership.\"","sentence":"Genotype AG is associated with increased resistance to antipsychotics in people with Mood Disorders or Schizophrenia as compared to genotypes AA + GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Mood Disorder, Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"AA + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC5003027","article_title":"TSPAN5, ERICH3 and selective serotonin reuptake inhibitors in major depressive disorder: pharmacometabolomics-informed pharmacogenomics","article_path":"articles/PMC5003027.md","variant_annotation_id":1447979316,"variant_haplotypes":"rs11947402","gene":"TSPAN5","drugs":"serotonin","pmid":26903268,"phenotype_category":"Other","significance":"yes","notes":"in patients taking citalopram or escitalopram. Baseline plasma serotonin concentrations before SSRI therapy, as well as changes in serotonin were used as a biomarker for response to SSRIs and GWAS was done w/respect to changes in plasma serotonin concentration. The G allele was associated with higher baseline plasma serotonin concentrations, as well as greater decreases in plasma serotonin concentrations at 4 and 8 weeks after beginning SSRI therapy.","sentence":"Allele G is associated with decreased concentrations of serotonin in people with Depressive Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4575538","article_title":"Effects of CYP2B6 and CYP1A2 Genetic Variation on Nevirapine Plasma Concentration and Pharmacodynamics as Measured by CD4 Cell Count in Zimbabwean HIV-Infected Patients","article_path":"articles/PMC4575538.md","variant_annotation_id":1448110413,"variant_haplotypes":"rs762551","gene":"CYP1A2","drugs":"nevirapine","pmid":26348712,"phenotype_category":"Efficacy","significance":"yes","notes":"Nevirapine was given as part of HAART therapy. Efficacy was determined based on CD4 count.","sentence":"Genotype CC is associated with increased response to nevirapine in people with HIV Infections as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC4231027","article_title":"Predictive Value of Interferon-Lambda Gene Polymorphisms for Treatment Response in Chronic Hepatitis C","article_path":"articles/PMC4231027.md","variant_annotation_id":1444665886,"variant_haplotypes":"rs11322783","gene":"IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":25393304,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients were analyzed by HCV genotype (1,2,3,4). Patients with HCV genotype 1 were divided into groups receiving dual therapy (GT1 (d); peg-intron alpha 2a/b, ribavirn) or triple therapy (GT1 (t); peg-intron alpha 2a/b, ribavirn, telaprevir). Sustained virological response (SVR) is a measure of therapeutic efficacy. Variables that were significant in univariate analysis were included in the multivariate analysis. The authors designated three \"beneficial\" genotypes that were found at higher frequencies in patients who achieved SVR: rs12979860 CC, rs8099917 TT, rs368234815 TT/TT. These genotypes were often found together. 98% of patients with GT1 (d), 100% of patients with GT1(t), 96% of patients with HCV genotype 2, 92% of patients with HCV genotype 3 and 98% of patients with HCV genotype 4 had those genotype combinations.; rs368234815 TT/TT was the only single SNP significant predictor of SVR in patients with HCV genotype 3. Although rs368234815 TT/TT was significantly associated with SVR in univariate analysis, in a multivariate analysis of predictive factors of SVR within all genotype 1 infected patients the TT/TT genotype was not found to be significant. The TT/TT genotype was also associated with increases ALT levels in patients with HCV genotype 2 (p=0.018),3 (p=0.035) and 2/3 (p=0.006) as well as a higher HCV RNA concentration at baseline in GT1 (d) (p<0.001) and GT(t) patients (p=0.007). *Note: TT is a single allele whereas the other allele substitutes TT for a single G so the WT genotype is TT/TT.","sentence":"Genotype TT/TT is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to genotypes G/TT + GG.","alleles":"TT/TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G/TT + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3727245","article_title":"CYP2C8*3 predicts benefit/risk profile in breast cancer patients receiving neoadjuvant paclitaxel","article_path":"articles/PMC3727245.md","variant_annotation_id":827922861,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"paclitaxel","pmid":22527101,"phenotype_category":"Efficacy","significance":"no","notes":"This is a C>T/A SNP(positive strand alleles). The OR is given for variant carriers vs. wild-type homozygous patients, without stating which genotypes were found. Response = complete clinical response (cCR). Some patients who had HER2 overexpressing tumors received trastuzumab at the same time as the paclitaxel.","sentence":"Allele C is not associated with increased response to paclitaxel in women with Breast Neoplasms.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4557249","article_title":"Association of serotonin transporter (SLC6A4) & receptor (5HTR1A, 5HTR2A) polymorphisms with response to treatment with escitalopram in patients with major depressive disorder: A preliminary study","article_path":"articles/PMC4557249.md","variant_annotation_id":1452040194,"variant_haplotypes":"rs6295","gene":"HTR1A","drugs":"escitalopram","pmid":26261165,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to escitalopram Depressive Disorder, Major as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7870766","article_title":"Brain/blood ratios of methadone and ABCB1 polymorphisms in methadone-related deaths","article_path":"articles/PMC7870766.md","variant_annotation_id":1451401900,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"methadone","pmid":33454797,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association between this variant and medulla/blood concentration ratios of methadone. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with concentrations of methadone as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896165,"variant_haplotypes":"rs17068112","gene":"REPS1","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5611711","article_title":"Influence of genetic variants on renal uric acid handling in response to frusemide: an acute intervention study","article_path":"articles/PMC5611711.md","variant_annotation_id":1449001741,"variant_haplotypes":"rs2078267","gene":"SLC22A11","drugs":"furosemide","pmid":28951782,"phenotype_category":"Efficacy","significance":"no","notes":"There was no difference in the absolute values of serum urate over the study period between those carrying the C allele versus those that did not.","sentence":"Allele T is not associated with response to furosemide in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC10230242","article_title":"Association between single nucleotide polymorphisms in DNA repair genes and the efficacy of radiotherapy in nasopharyngeal carcinoma patients","article_path":"articles/PMC10230242.md","variant_annotation_id":1452124220,"variant_haplotypes":"rs25487","gene":"XRCC1","drugs":"radiotherapy","pmid":37266339,"phenotype_category":"Efficacy","significance":"no","notes":"alleles complemented.","sentence":"Allele C is not associated with response to radiotherapy in people with Nasopharyngeal Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Nasopharyngeal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171099,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"S-EDDP","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with concentrations of (S)-EDDP as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4702374","article_title":"A multi-factorial analysis of response to warfarin in a UK prospective cohort","article_path":"articles/PMC4702374.md","variant_annotation_id":1447680544,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":26739746,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotypes CT + TT are associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550292,"variant_haplotypes":"rs362731","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele C is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC11509751","article_title":"Bleeding Events Associated with Rivaroxaban Therapy in Naive Patients with Nonvalvular Atrial Fibrillation: A Longitudinal Study from a Genetic Perspective with INR Follow-Up","article_path":"articles/PMC11509751.md","variant_annotation_id":1452654640,"variant_haplotypes":"rs4148738","gene":"ABCB1","drugs":"rivaroxaban","pmid":39459499,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"In our study, we found that for ABCB1-related rs4148738 and rs2032582, there was a statistically significant difference between the wild and mutant genotypes and a decrease in the CDR max values of rivaroxaban, while CDRss was statistically significant between the wild and homozygous mutant genotypes. For rs1045642 and rs1128503 of ABCB1, the decreased CDR max and Css levels of rivaroxaban were statistically significant between the wild (AA) and mutant (AG, GG) genotypes. Our findings suggest that polymorphism in the P-glycoprotein expressed by the ABCB1 gene can affect the peak plasma levels of rivaroxaban.\" Was significant for TT v CC not CT v CC","sentence":"Allele T is associated with decreased concentrations of rivaroxaban in people with Atrial Fibrillation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6034060","article_title":"Enantioselective pharmacokinetics of tramadol and its three main metabolites; impact of CYP2D6, CYP2B6, and CYP3A4 genotype","article_path":"articles/PMC6034060.md","variant_annotation_id":1451229680,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*9, CYP2D6*35, CYP2D6*41","gene":"CYP2D6","drugs":"\"n,o-didesmethyltramadol\", \"o-desmethyltramadol\"","pmid":29992026,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"The two subjects identified as PMs had smaller AUCs of O-desmethyltramadol and N,O-didesmethyltramadol compared to the other subjects in the cohort. Note that no statistical analysis appears to have been carried out.","sentence":"CYP2D6 *4/*4 + *4/*5 (assigned as poor metabolizer phenotype) are associated with decreased exposure to n,o-didesmethyltramadol or o-desmethyltramadol in healthy individuals as compared to CYP2D6 *1/*1 + *1/*2 + *1/*3 + *1/*4 + *1/*5 + *1/*9 + *1/*35 + *1/*41 + *2/*5 + *2/*35 + *2/*41 + *4/*35 + *4/*41 (assigned as intermediate metabolizer and normal metabolizer phenotype) .","alleles":"*4/*4 + *4/*5","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2 + *1/*3 + *1/*4 + *1/*5 + *1/*9 + *1/*35 + *1/*41 + *2/*5 + *2/*35 + *2/*41 + *4/*35 + *4/*41","comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} +{"pmcid":"PMC3899768","article_title":"SLC28A3 genotype and gemcitabine rate of infusion affect dFdCTP metabolite disposition in patients with solid tumours","article_path":"articles/PMC3899768.md","variant_annotation_id":1184174881,"variant_haplotypes":"rs11598702","gene":"NT5C2","drugs":"gemcitabine","pmid":24300978,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Gemcitabine, dFdCTP, and dFdU plasma concentrations were measured before (5, 15, 30, 45 min) and after gemcitabine infusion (1, 1.25, 1.5, 2, 6, 24, 48, 72 hrs). Population pharmacokinetic analysis of gemcitabine and metabolites (dFdU, dFdCTP) were performed by non-linear mixed effects modeling. Pharmacokinetics of gemcitabine were described by a two-compartment model. NT5C2 rs11598702 genotype and body surface area of the patient, were significant co-variates in the final pharmacokinetic model to predict rate of gemcitabine clearance in patients.","sentence":"Genotype TT is associated with decreased clearance of gemcitabine as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3902809","article_title":"Clinical Impact of Cytochrome P450 2C19 Genotype on the Treatment of Invasive Aspergillosis under Routine Therapeutic Drug Monitoring of Voriconazole in a Korean Population","article_path":"articles/PMC3902809.md","variant_annotation_id":1444827950,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":24475354,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference was seen when comparing poor metabolizers with extensive (*1/*1, *1/*17; p=0.062) or heterozygous extensive (*1/*2, *1/*3; p=0.779) metabolizers. The initial voriconazole trough concentrations were 1.8, 2.7, and 3.2 mg/L in EM, HEM, and PM, respectively. There was no significant difference when comparing all 3 groups either (p=0.068).","sentence":"CYP2C19 *2/*2 + *3/*3 (assigned as poor metabolizer phenotype) is not associated with trough concentration of voriconazole in people with Hematologic Diseases and Infection as compared to CYP2C19 *1/*1 + *1/*17 + *1/*2 + *1/*3.","alleles":"*2/*2 + *3/*3","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hematologic Disorder, Disease:Infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"*1/*1 + *1/*17 + *1/*2 + *1/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":1448634953,"variant_haplotypes":"rs2284220","gene":"CRHR2","drugs":"salbutamol","pmid":18408560,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with decreased response to salbutamol in people with Asthma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6375065","article_title":"An expanded pharmacogenomics warfarin dosing table with utility in generalised dosing guidance","article_path":"articles/PMC6375065.md","variant_annotation_id":1448109681,"variant_haplotypes":"rs28371686","gene":"CYP2C9","drugs":"warfarin","pmid":27121899,"phenotype_category":"Dosage","significance":"not stated","notes":"This variant annotation is part of a dosing algorithm table based on 8 genetic variants.","sentence":"Allele C is associated with dose of warfarin as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4731723","article_title":"TOLLIP, MUC5B, and the Response to N-Acetylcysteine among Individuals with Idiopathic Pulmonary Fibrosis","article_path":"articles/PMC4731723.md","variant_annotation_id":1447982703,"variant_haplotypes":"rs35705950","gene":"MUC5B","drugs":"acetylcysteine","pmid":26331942,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical endpoints included death, transplant, hospitalization, or FVC decline, and risk was adjusted for age, sex, prednisone use, azathioprine use, FVC, diffusion capacity of the lung, and trial/center. Alleles given on reverse strand A and G.","sentence":"Genotype TT is not associated with response to acetylcysteine in people with Pulmonary Fibrosis as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pulmonary Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC10583240","article_title":"Population pharmacokinetic analyses for belzutifan to inform dosing considerations and labeling","article_path":"articles/PMC10583240.md","variant_annotation_id":1452212680,"variant_haplotypes":"CYP2C19 poor metabolizer","gene":"CYP2C19","drugs":"belzutifan","pmid":37596839,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"variants genotyped are not specified, nor are which variants are considered PM. \"A population pharmacokinetic (PK) model was built, using NONMEM\u00ae v7.3, based on demographics/PK data from 3 clinical pharmacology (food effect, formulation bridging, genotype/race effect) and 2 clinical (phase 1 dose escalation/expansion in RCC and other solid tumors; phase 2 in VHL patients) studies.\" \"UGT2B17 and CYP2C19 poor metabolizers (PM) were estimated to have a 3.2-fold higher area under the plasma concentration-time curve (AUC) compared to UGT2B17 extensive metabolizer and CYP2C19 non-PM patients.\"","sentence":"CYP2C19 poor metabolizer is associated with increased concentrations of belzutifan in people with von Hippel-Lindau Disease or Carcinoma, Renal Cell.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:von Hippel-Lindau Disease, Other:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4265416","article_title":"Haplotypes of P2RX7 gene polymorphisms are associated with both cold pain sensitivity and analgesic effect of fentanyl","article_path":"articles/PMC4265416.md","variant_annotation_id":1450821464,"variant_haplotypes":"rs1180012","gene":"P2RX7","drugs":"fentanyl","pmid":25472448,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and 24-h postoperative fentanyl use or perioperative fentanyl use.","sentence":"Allele T is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC1884506","article_title":"Effects of various factors on steady-state plasma concentrations of risperidone and 9-hydroxyrisperidone: lack of impact of MDR-1 genotypes","article_path":"articles/PMC1884506.md","variant_annotation_id":1183620333,"variant_haplotypes":"CYP2D6*1, CYP2D6*4, CYP2D6*5, CYP2D6*10, CYP2D6*14","gene":"CYP2D6","drugs":"risperidone","pmid":15089809,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study evaluated patients with *1, *4, *5, *10, and *14 alleles. A gene dose effect was observed in that with increasing numbers of variant alleles, higher concentrations of risperidone were seen. Concentrations of the major metabolite, 9-OH-risperidone, and active moiety, risperidone + 9-OH-risperidone, correlated with age, but not with CYP2D6 genotype.","sentence":"CYP2D6 *4 + *5 + *10 +*14 is associated with decreased metabolism of risperidone in people with Schizophrenia as compared to CYP2D6 *1.","alleles":"*4 + *5 + *10 +*14","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4236071","article_title":"Adiponectin Gene Polymorphism rs2241766 T/G Is Associated with Response to Pioglitazone Treatment in Type 2 Diabetic Patients from Southern China","article_path":"articles/PMC4236071.md","variant_annotation_id":1444666932,"variant_haplotypes":"rs266729","gene":"ADIPOQ","drugs":"pioglitazone","pmid":25405601,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as \"any decrease greater than (or equal to) 15%\" of glycated hemoglobin (HbA1C%).","sentence":"Genotype CC are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3571021","article_title":"Effect of age, weight and CYP2C19 genotype on escitalopram exposure","article_path":"articles/PMC3571021.md","variant_annotation_id":1183699996,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"escitalopram","pmid":19841156,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2C19 *1/*2 + *1/*3 + *17/*2 + *17/*3 + *2/*2 + *2/*3 + *3/*3 are associated with decreased clearance of escitalopram in people with Depressive Disorder, Major as compared to CYP2C19 *1/*1 + *1/*17 + *17/*17.","alleles":"*1/*2 + *1/*3 + *17/*2 + *17/*3 + *2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17 + *17/*17","comparison_metabolizer_types":null} +{"pmcid":"PMC3598593","article_title":"Effect of Fenofibrate Therapy and ABCA1 Polymorphisms on High Density Lipoprotein Subclasses in the Genetics of Lipid Lowering Drugs and Diet Network","article_path":"articles/PMC3598593.md","variant_annotation_id":982044822,"variant_haplotypes":"rs2230806","gene":"ABCA1","drugs":"fenofibrate","pmid":20346718,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the TT genotype had a greater total high-density lipoprotein (HDL) particle concentration (units = umol/L) after fenofibrate treatment for 3 weeks, as compared to patients with the CC genotype.","sentence":"Genotype TT is associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699042,"variant_haplotypes":"rs1318383","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses). Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672880,"variant_haplotypes":"rs758479488","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele T is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4184528","article_title":"Ivacaftor in severe cystic fibrosis lung disease and a G551D mutation","article_path":"articles/PMC4184528.md","variant_annotation_id":1449192709,"variant_haplotypes":"rs75527207","gene":"CFTR","drugs":"ivacaftor","pmid":25473543,"phenotype_category":"Efficacy","significance":"not stated","notes":"G551D allele. Case report of three patients with the F508del/G551D genotype. Reported improvements in FEV1, body weight, sweat chloride levels and scores in the respiratory domain of the CFQ-R.","sentence":"Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6595468","article_title":"Relevance of CYP2B6 and CYP2D6 genotypes to methadone pharmacokinetics and response in the OPAL study","article_path":"articles/PMC6595468.md","variant_annotation_id":1450374166,"variant_haplotypes":"CYP2D6 poor and ultrarapid metabolizers","gene":"CYP2D6","drugs":"(S)-methadone","pmid":30907440,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2D6 poor metabolizer and ultrarapid metabolizer are not associated with concentrations of (S)-methadone in people with Opioid-Related Disorders as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer and ultrarapid metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407512,"variant_haplotypes":"rs6269","gene":"COMT","drugs":"morphine","pmid":31806881,"phenotype_category":"Efficacy","significance":"not stated","notes":"Nominally significant difference in ischemic pain threshold between genotype groups, but this association was not seen in other pain modalities. Study-wide significance was set to p<0.017.","sentence":"Genotypes AG + GG are associated with increased response to morphine in healthy individuals as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC9584256","article_title":"Influence of UGT1A1 and SLC22A6 polymorphisms on the population pharmacokinetics and pharmacodynamics of raltegravir in HIV-infected adults: a NEAT001/ANRS143 sub-study","article_path":"articles/PMC9584256.md","variant_annotation_id":1452019020,"variant_haplotypes":"rs8175347","gene":"UGT1A1","drugs":"raltegravir","pmid":36266537,"phenotype_category":"Efficacy","significance":"no","notes":"In an analysis of patients randomized to the ritonavir-boosted darunavir plus raltegravir arm in the Phase III NEAT 001/ANRS 143 study, patients with low UGT1A1 activity showed a lower incidence of virological failure at 96 weeks.","sentence":"Genotype (TA)7/(TA)7 is associated with increased response to raltegravir in people with HIV Infections as compared to genotype (TA)6/(TA)6.","alleles":"(TA)7/(TA)7","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"(TA)6/(TA)6","comparison_metabolizer_types":null} +{"pmcid":"PMC5306492","article_title":"Polymorphisms in ABCB1 and CYP19A1 genes affect anastrozole plasma concentrations and clinical outcomes in postmenopausal breast cancer patients","article_path":"articles/PMC5306492.md","variant_annotation_id":1448615000,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"anastrozole","pmid":27747906,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles have been complemented to the positive strand.","sentence":"Genotype GG is not associated with concentrations of anastrozole in women with Breast Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC8673616","article_title":"Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences","article_path":"articles/PMC8673616.md","variant_annotation_id":1451679100,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"methadone","pmid":34910759,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4613195","article_title":"Impact of Single Nucleotide Polymorphisms (SNPs) on Immunosuppressive Therapy in Lung Transplantation","article_path":"articles/PMC4613195.md","variant_annotation_id":1448099986,"variant_haplotypes":"rs9282564","gene":"ABCB1","drugs":"tacrolimus","pmid":26307985,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles given as the reverse strand G and A. Concentrations measured as trough blood drug concentrations. Differences in concentrations between AG and AA patients were in the first month after transplant. No patients had homozygous GG genotype.","sentence":"Genotype CT is associated with increased concentrations of tacrolimus in people with lung transplantation as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC9298338","article_title":"No significant influence of OCT1 genotypes on the pharmacokinetics of morphine in adult surgical patients","article_path":"articles/PMC9298338.md","variant_annotation_id":1451809220,"variant_haplotypes":"rs34130495","gene":"SLC22A1","drugs":"morphine","pmid":34599645,"phenotype_category":"Dosage","significance":"no","notes":"Analyzed as part of haplotypes with rs12208357, rs34059508 and rs72552763. No significant association between haplotypes and PCA doses of morphine.","sentence":"Allele A is not associated with dose of morphine in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC1365132","article_title":"Imipramine metabolism in relation to the sparteine and mephenytoin oxidation polymorphisms--a population study","article_path":"articles/PMC1365132.md","variant_annotation_id":1183684336,"variant_haplotypes":"CYP2D6*1, CYP2D6*3, CYP2D6*4, CYP2D6*5","gene":"CYP2D6","drugs":"imipramine","pmid":7640151,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"The medians of the hydroxylation ratios (i.e. 2-hydroxy-metabolite over parent compound) were higher in extensive metabolizers of sparteine (EMs) as compared with poor metabolizers (PMs). No statistic given, but none of the ratios separated the two phenotypes (EM vs PM) completely.","sentence":"CYP2D6 *3/*4 + *4/*4 + *5/*5 are associated with decreased metabolism of imipramine in healthy individuals as compared to CYP2D6 *1/*1 + *1/*3 + *1/*4.","alleles":"*3/*4 + *4/*4 + *5/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3 + *1/*4","comparison_metabolizer_types":null} +{"pmcid":"PMC9820603","article_title":"Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks","article_path":"articles/PMC9820603.md","variant_annotation_id":1452570024,"variant_haplotypes":"rs1800795","gene":"IL6","drugs":"almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan, zolmitriptan","pmid":36614097,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with clinical benefit to almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan or zolmitriptan in people with Migraine without Aura as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC11059713","article_title":"Therapeutic efficacy of generic artemether\u2013lumefantrine in the treatment of uncomplicated malaria in Ghana: assessing anti-malarial efficacy amidst pharmacogenetic variations","article_path":"articles/PMC11059713.md","variant_annotation_id":1452466160,"variant_haplotypes":"CYP2B6*1, CYP2B6*6, CYP2B6*18","gene":"CYP2B6","drugs":"dihydroartemisinin","pmid":38685044,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"There were significant differences in plasma artemether drug concentrations between CYP2B6*1/*6 and *1/*1 carriers (p\u2009=\u20090.039) with another significant difference observed between plasma DHA metabolite concentrations between CYP2B6*1/*6 versus CYP2B6*1/*1 (p\u2009=\u20090.000) and combined CYP2B6*6/*6\u2009+\u2009*18/*18 versus CYP2B6*1/*1 (p\u2009=\u20090.012).\" \"The analysis combined non-expressor CYP2B6*6/6 and *18/*18 due to their numbers and functional effects.\"","sentence":"CYP2B6 *6/*6 + *18/*18 + *1/*6 is associated with decreased concentrations of dihydroartemisinin in people with Malaria, Falciparum as compared to CYP2B6 *1/*1.","alleles":"*6/*6 + *18/*18 + *1/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Malaria, Falciparum","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4500334","article_title":"Pharmacogenetics of plasma efavirenz exposure in HIV-infected adults and children in South Africa","article_path":"articles/PMC4500334.md","variant_annotation_id":1446905219,"variant_haplotypes":"rs4803419","gene":"CYP2B6","drugs":"efavirenz","pmid":25611810,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"When considered as part of a composite (rs3745274 T, rs28399499 C, and rs4803419 T), the T allele was strongly associated with plasma efavirenz concentrations (plasma [EFV]) [beta=0.28, 95% CI (0.21, 0.35) p=2.4 E-11]. In a final multivariable model the T allele was associated with a 6% increase in plasma [EFV] (beta=0.06). Post-hoc sensitivity analysis, in which two extreme outliers were excluded from analysis (N=111), showed that the T allele was associated with a 12% increase in plasma [EFV]. Multi-level mixed effects models predicted plasma [EFV] as a function of 1) fixed age effect, time after dose, CYP2B6 composite genotype T,C,T and 2) random effects of the individual to account for w/in individual correlations, genotype TT and CT were associated with a 1.4 and 1.2 fold increase in plasma [EFV], respectively.","sentence":"Allele T is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC9820603","article_title":"Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks","article_path":"articles/PMC9820603.md","variant_annotation_id":1452569951,"variant_haplotypes":"rs1800795","gene":"IL6","drugs":"aspirin, diclofenac, ibuprofen, indomethacin, ketorolac, naproxen","pmid":36614097,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with clinical benefit to aspirin, diclofenac, ibuprofen, indomethacin, ketorolac or naproxen in people with Migraine without Aura as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5425333","article_title":"Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta\u2010Analysis","article_path":"articles/PMC5425333.md","variant_annotation_id":1448631754,"variant_haplotypes":"rs622342","gene":"SLC22A1","drugs":"metformin","pmid":27859023,"phenotype_category":"Efficacy","significance":"no","notes":"This variant is not associated with metformin glycemic response assessed as HbA1c reduction in patients on metformin monotherapy.","sentence":"Allele C is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC11458732","article_title":"Voriconazole therapeutic drug monitoring including analysis of CYP2C19 phenotype in immunocompromised pediatric patients with invasive fungal infections","article_path":"articles/PMC11458732.md","variant_annotation_id":1452582440,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":39240338,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Ctrough of VCZ were significantly higher in NM and IM groups compared with RM, and UM groups.\" Only *2 and *17 were measured.","sentence":"CYP2C19 *1/*1 + *1/*2 (assigned as normal metabolizer and intermediate metabolizer phenotype) is associated with increased dose-adjusted trough concentrations of voriconazole in children with Hematologic Neoplasms or hematopoietic stem cell transplantation as compared to CYP2C19 *1/*17 + *17/*17 (assigned as ultrarapid metabolizer and rapid metabolizer phenotype) .","alleles":"*1/*1 + *1/*2","specialty_population":"Pediatric","metabolizer_types":"normal metabolizer and intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Hematologic Neoplasms, Other:Hematopoietic stem cell transplantation","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"*1/*17 + *17/*17","comparison_metabolizer_types":"ultrarapid metabolizer and rapid metabolizer"} +{"pmcid":"PMC6006403","article_title":"Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma","article_path":"articles/PMC6006403.md","variant_annotation_id":1449577012,"variant_haplotypes":"rs35661809","gene":null,"drugs":"salbutamol","pmid":29509491,"phenotype_category":"Efficacy","significance":"yes","notes":"Direction of the response not explicit stated in the article.","sentence":"Allele G is associated with increased response to salbutamol in children with as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4565152","article_title":"Genetic Variation at the LDL Receptor and HMG CoA Reductase Gene Loci, Lipid Levels, Statin Response, and Cardiovascular Disease Incidence in PROSPER","article_path":"articles/PMC4565152.md","variant_annotation_id":769152906,"variant_haplotypes":"rs1433099","gene":"LDLR","drugs":"pravastatin","pmid":18261733,"phenotype_category":"Efficacy","significance":"not stated","notes":"PROSPER study. Baseline Lipid Values, LDL-C lowering response,trial CHD and CVD outcomes were measured. The response was in terms of LDL-C lowering in men and in incident CHD and CVD risk. 40 mg/day pravastatin.","sentence":"Genotype TT is associated with increased response to pravastatin in people with Vascular Diseases as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Vascular Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3071070","article_title":"Association of Pharmacogenetic Markers with Premature Discontinuation of First-line Anti-HIV Therapy: An Observational Cohort Study","article_path":"articles/PMC3071070.md","variant_annotation_id":1184747497,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"tenofovir","pmid":21288825,"phenotype_category":"Toxicity","significance":"no","notes":null,"sentence":"Genotypes CT + TT is not associated with increased discontinuation of tenofovir in people with HIV Infections as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680142,"variant_haplotypes":"rs115501901","gene":"NCOA3","drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"yes","notes":"The allele associated with increased response and low frequency is not explicitly stated. Response is increased for carriers of the rare, minor allele. GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation.","sentence":"Genotype CT is associated with increased response to salbutamol in children with Asthma as compared to genotype CC.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC2749505","article_title":"Interindividual Variability in Pharmacokinetics of Generic Nucleoside Reverse Transcriptase Inhibitors in TB/HIV Co-infected Ghanaian Patients: UGT2B7*1C is Associated with Faster Zidovudine Clearance and Glucuronidation","article_path":"articles/PMC2749505.md","variant_annotation_id":769259039,"variant_haplotypes":"rs28365062","gene":"UGT2B7","drugs":"zidovudine","pmid":19628728,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The G allele carriers had 57% lower mean AUC (P = .029, unpaired t test), 196% higher mean CL/F (P = .004, unpaired t test; Figure 3B), and 67% shorter mean elimination half-life (P = .030, unpaired t test) compared with A allele carriers","sentence":"Allele G is associated with increased metabolism of zidovudine as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC9914414","article_title":"Association between ADAM33 Single-Nucleotide Polymorphisms and Treatment Response to Inhaled Corticosteroids and a Long-Acting Beta-Agonist in Asthma","article_path":"articles/PMC9914414.md","variant_annotation_id":1452015940,"variant_haplotypes":"rs2853209","gene":"ADAM33","drugs":"corticosteroids, selective beta-2-adrenoreceptor agonists","pmid":36766510,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by FEV1 (10.2%) after three months of ICS+LABA. Caution this is an A/T variant in a gene on the minus strand. Since other variants in this paper were measured on the minus/coding strand this has been complemented to the assumed plus chromosomal strand. \"The SNP rs2853209 (TT genotype) showed a significantly lower improvement in FEV1 (4.6%) as compared to the AA genotype, which showed a greater improvement in FEV1 (10.2%) after three months of ICS+LABA.\"","sentence":"Genotype AA is associated with decreased clinical benefit to corticosteroids and selective beta-2-adrenoreceptor agonists in people with Asthma as compared to genotype TT.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4137828","article_title":"Relationship of CYP3A5 genotype and ABCB1 diplotype to tacrolimus disposition in Brazilian kidney transplant patients","article_path":"articles/PMC4137828.md","variant_annotation_id":1184470908,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"tacrolimus","pmid":24528196,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"3 - 12 months post-transplant. In multivariate linear regression analysis, the AAA/AAA haplotype (rs1045642, rs1128503, rs2032582) showed a significant effect on dose-adjusted trough concentrations (C0/D) of tacrolimus (those with the AAA/AAA haplotype have increased C0/D compared to those with non-AAA/AAA haplotypes). In chi-squared analyses, no significant association was seen for trough concentrations or dose. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype AA is associated with decreased clearance of tacrolimus in people with Kidney Transplantation as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC7086280","article_title":"Effect of ADRA2A gene polymorphisms on the anesthetic and analgesic effects of dexmedetomidine in Chinese Han women with cesarean section","article_path":"articles/PMC7086280.md","variant_annotation_id":1451146211,"variant_haplotypes":"rs775887911","gene":"ADRA2A","drugs":"dexmedetomidine","pmid":32256718,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CC genotype had significantly increased pain thresholds and significantly reduced VAS pain scores post-surgery than women with the CT or TT genotypes. There was no significant difference in pain thresholds between genotype group pre-surgery.","sentence":"Genotypes CT + TT are associated with decreased response to dexmedetomidine in women with Pain, Postoperative as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3401172","article_title":"An Acenocoumarol Dosing Algorithm Using Clinical and Pharmacogenetic Data in Spanish Patients with Thromboembolic Disease","article_path":"articles/PMC3401172.md","variant_annotation_id":1448259332,"variant_haplotypes":"rs7412","gene":"APOE","drugs":"acenocoumarol","pmid":22911785,"phenotype_category":"Dosage","significance":"not stated","notes":"This variant was not significantly associated with acenocoumarol dose, though it did explain 1.3% of the variability in dose. Clinical variables (Age, BMI, Enzyme inducers status and Amiodarone status) explained 22% of the variability in dose. This study developed an algorithm for acenocoumarol dosing using clinical and pharmacogenetic data.","sentence":"Allele T is not associated with dose of acenocoumarol.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5391994","article_title":"Impact of the CYP2C19 Genotype on Voriconazole Exposure in Adults with Invasive Fungal Infections","article_path":"articles/PMC5391994.md","variant_annotation_id":1448604929,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":28306618,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The study did not find a significant difference in trough concentration between the NM (*1/*1) (4.27 \u00b1 2.4 mg/l) and the IM/PM (*1/*2 + *2/*17 + *2/*2) (4.13 \u00b1 1.6 mg/l) groups, therefore these groups were combined for comparison. The mean steady-state trough concentrations were 1.35\u00b10.7, 2.97\u00b12.3, and 4.26 \u00b1 2.2 mg/l in patients with the CYP2C19 *17/*17 (UMs), *1/*17 (RMs), and other genotypes, respectively (P=0.02 for both the *17/*17 and *1/*17 genotypes compared with other genotypes. More subjects with the RM/UM phenotype had a subtherapeutic trough concentration (52 vs. 16%, P = 0.0028).","sentence":"CYP2C19 *1/*17 is associated with decreased concentrations of voriconazole in people with Mycoses as compared to CYP2C19 *1/*1 + *1/*2 + *2/*17 + *2/*2.","alleles":"*1/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Mycoses","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2 + *2/*17 + *2/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756078,"variant_haplotypes":"rs9920375","gene":null,"drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5404990","article_title":"A cis-eQTL in OPRM1 is Associated with Subjective Response to Alcohol and Alcohol Use","article_path":"articles/PMC5404990.md","variant_annotation_id":1450824374,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":28273335,"phenotype_category":"Other","significance":"no","notes":"No significant associations between this variant and reported sensitivity to alcohol overall, during the last three-month period of drinking, during the participants' first five drinking episodes or at the period of heaviest drinking in their lives; or with reported or experimental sensitivity to the sedating or stimulatory effects of alcohol or subjective intoxication.","sentence":"Genotypes AG + GG are not associated with response to ethanol as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6408006","article_title":"Correlation of P2RX7 gene rs1718125 polymorphism with postoperative fentanyl analgesia in patients with lung cancer","article_path":"articles/PMC6408006.md","variant_annotation_id":1450934857,"variant_haplotypes":"rs1718125","gene":"P2RX7","drugs":"fentanyl","pmid":30762755,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the CT or TT genotypes had significantly increased postoperative fentanyl consumption at 6, 24 and 48 hours after surgery. Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes CT + TT are associated with increased dose of fentanyl in people with Lung Neoplasms and Pain, Postoperative as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"\"Other:Lung Neoplasms\", \"Other:Pain, Postoperative\"","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC9321338","article_title":"Genetic Polymorphisms Associated with Vincristine Pharmacokinetics and Vincristine-Induced Peripheral Neuropathy in Pediatric Oncology Patients","article_path":"articles/PMC9321338.md","variant_annotation_id":1452110218,"variant_haplotypes":"rs4548","gene":"RAB7A","drugs":"vincristine","pmid":35884569,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in a subset of study of vincristine-induced peripheral neuropathy with PK measurements.","sentence":"Genotype CT is associated with increased exposure to vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma, Hodgkin Disease, Rhabdomyosarcoma, Medulloblastoma or Glioma as compared to genotype CC.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia, Other:Hodgkin Disease, Other:Rhabdomyosarcoma, Other:Medulloblastoma, Other:Glioma","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5546927","article_title":"The Effect of Gene Variants on Levonorgestrel Pharmacokinetics when Combined with Antiretroviral Therapy containing Efavirenz or Nevirapine","article_path":"articles/PMC5546927.md","variant_annotation_id":1448684688,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":28187506,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in patients treated with levonorgestrel implant plus efavirenz. \"C12-14h values were 2.1, 2.6, and 8.7 mg/L in GG, GT, and TT genotype groups, respectively (76% difference between homozygote groups).\"","sentence":"Genotypes GT + TT are associated with increased concentrations of efavirenz in women with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121694,"variant_haplotypes":"rs6473797","gene":"OPRK1","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test, subjective effects of oxycodone.","sentence":"Allele T is not associated with response to oxycodone as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995793,"variant_haplotypes":"rs1375668","gene":"ANGPT2","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC3944116","article_title":"Effect of CYP3A4*22, CYP3A5*3, and CYP3A Combined Genotypes on Cyclosporine, Everolimus, and Tacrolimus Pharmacokinetics in Renal Transplantation","article_path":"articles/PMC3944116.md","variant_annotation_id":1184470962,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"cyclosporine","pmid":24522145,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Carriers of the *22 allele had 15% lower clearance compared with non-carriers. CYP3A4*22 explained 4% of the variability in cyclosporine clearance.","sentence":"CYP3A4 *1/*1 is associated with increased clearance of cyclosporine in people with Kidney Transplantation as compared to CYP3A4 *1/*22 + *22/*22.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*22 + *22/*22","comparison_metabolizer_types":null} +{"pmcid":"PMC5029084","article_title":"NUDT15 Polymorphisms Alter Thiopurine Metabolism and Hematopoietic Toxicity","article_path":"articles/PMC5029084.md","variant_annotation_id":1447945146,"variant_haplotypes":"NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*5","gene":"NUDT15","drugs":"mercaptopurine","pmid":26878724,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"NUDT15 converts thioguanosine triphosphate (TGTP) into thioguanosine monophosphate (TGMP), preventing the incorporation of thiopurine metabolites into DNA (DNA-TG), and thereby negatively regulating thiopurine activation and resulting cytotoxicity. The ratio of DNA-TG (in white blood cells) to mercaptopurine dosage was assessed (that is, the amount of DNA-TG converted from every unit mercaptopurine dose). Two cohorts were used: Singaporean and Japanese. Those with the *1/*1 genotype (normal activity) had the lowest ratio, followed by those with *1/*3 or *1/*5 genotype (intermediate activity) and then the *2/*3, *3/*3 or *3/*5 genotype (low activity).","sentence":"NUDT15 *1/*1 (assigned as high activity phenotype) is associated with increased metabolism of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to NUDT15 *1/*3 + *1/*5 + *2/*3 + *3/*3 + *3/*5 (assigned as intermediate and low activity phenotype) .","alleles":"*1/*1","specialty_population":"Pediatric","metabolizer_types":"high activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*3 + *1/*5 + *2/*3 + *3/*3 + *3/*5","comparison_metabolizer_types":"low activity and intermediate activity"} +{"pmcid":"PMC3555879","article_title":"ABCB1 Variation and Treatment Response in AIDS Patients: Initial Results of the Henan Cohort","article_path":"articles/PMC3555879.md","variant_annotation_id":982045444,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"lamivudine, nevirapine, zidovudine","pmid":23372834,"phenotype_category":"Efficacy","significance":"not stated","notes":"This paper was unclear as to which allele was associated with increased or decreased response as measured by change in CD4+ T cell counts. The significance of this association was greater if rs1045642 was included.","sentence":"Allele A is associated with response to lamivudine, nevirapine or zidovudine in people with HIV Infections as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171109,"variant_haplotypes":"rs8192719","gene":"CYP2B6","drugs":"S-EDDP","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with concentrations of (S)-EDDP as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4833150","article_title":"Genetic markers in CYP2C19 and CYP2B6 for prediction of cyclophosphamide's 4\u2010hydroxylation, efficacy and side effects in Chinese patients with systemic lupus erythematosus","article_path":"articles/PMC4833150.md","variant_annotation_id":1446907636,"variant_haplotypes":"rs4802101","gene":"CYP2B6","drugs":"cyclophosphamide","pmid":26456622,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The plasma concentration of cyclophosphamide (CPA) 20 hours post dose (C20h) was not significantly different between genotypes, but plasma concentrations of the active CPA metabolite of 4-OH-CPA was significantly influenced by CYP2B6 -750T>C and CYP2C19*2 genotype (p<0.001). Patients with CYP2B6 -750TT genotype had significantly higher 4-OH-CPA concentration (C20h median= 20.9 ng/mL) as compared to the TC and CC genotype (C20h median=12.4 and 10.2 ng/ml, respectively).","sentence":"Allele C is associated with decreased metabolism of cyclophosphamide in people with Lupus erythematosus as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lupus erythematosus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2757655","article_title":"Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European American and African Americans","article_path":"articles/PMC2757655.md","variant_annotation_id":1447519684,"variant_haplotypes":"rs7294","gene":"VKORC1","drugs":"warfarin","pmid":18466099,"phenotype_category":"Dosage","significance":"yes","notes":"in European Americans.","sentence":"Genotypes CT + TT are associated with increased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC3910794","article_title":"Pharmacometric Characterization of Efavirenz Developmental Pharmacokinetics and Pharmacogenetics in HIV-Infected Children","article_path":"articles/PMC3910794.md","variant_annotation_id":1184233697,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":24145522,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Authors describe a population pharmacokinetics covariate model for efavirenz which included the effect of the TT genotype on oral clearance.","sentence":"Genotype TT is associated with decreased clearance of efavirenz in children with HIV Infections.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4949007","article_title":"CYP2D6 function moderates the pharmacokinetics and pharmacodynamics of 3,4-methylene-dioxymethamphetamine in a controlled study in healthy individuals","article_path":"articles/PMC4949007.md","variant_annotation_id":1448109032,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6, CYP2D6*9, CYP2D6*10, CYP2D6*41","gene":"CYP2D6","drugs":"3,4-methylenedioxymethamphetamine","pmid":27253829,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alteration in plasma MDMA levels was seen up to 3 h after drug administration but not beyond. Higher Cmax values in CYP2D6 poor metabolizers (PMs) compared with extensive metabolizers (EMs). PMs showing higher AUC6(up to 6hr) values compared with EMs. The Cmax and AUC6 of 3,4-methylene-dioxyamphetamine (MDA) varied across genotypes (F2,136 = 8.82, P < 0.01, and F2,136 = 9.09, P < 0.001, respectively), which were higher in PMs compared with intermediate metabolizers (IMs; P < 0.001) and EMs (P < 0.001).","sentence":"CYP2D6 *4/*4 + *3/*5 is associated with decreased metabolism of 3,4-methylenedioxymethamphetamine as compared to CYP2D6 *1/*4 + *1/*3 + *1/*6 + *2/*4 + *2/*5 + *9/*10 + *1/*41 + *1/*10 + *1/*9 + *2/*10 + *2/*41 + *1/*1 + *1/*2 + *2/*2.","alleles":"*4/*4 + *3/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*4 + *1/*3 + *1/*6 + *2/*4 + *2/*5 + *9/*10 + *1/*41 + *1/*10 + *1/*9 + *2/*10 + *2/*41 + *1/*1 + *1/*2 + *2/*2","comparison_metabolizer_types":null} +{"pmcid":"PMC4519823","article_title":"Dependence of erythromycin metabolism on ABCC2 (MRP2) transport function","article_path":"articles/PMC4519823.md","variant_annotation_id":769258956,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"erythromycin","pmid":21451505,"phenotype_category":"Other, Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT is associated with increased metabolism of erythromycin as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC3172251","article_title":"IL28B, HLA-C, and KIR Variants Additively Predict Response to Therapy in Chronic Hepatitis C Virus Infection in a European Cohort: A Cross-Sectional Study","article_path":"articles/PMC3172251.md","variant_annotation_id":1448995614,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":21931540,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to treatment assessed by whether patients had successfully cleared the virus after six months of therapy.","sentence":"Allele G is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4201132","article_title":"Gene Variants in CYP2C19 Are Associated with Altered In Vivo Bupropion Pharmacokinetics but Not Bupropion-Assisted Smoking Cessation Outcomes","article_path":"articles/PMC4201132.md","variant_annotation_id":1184985784,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"bupropion","pmid":25187485,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Healthy volunteers were given 150 mg of bupropion once a day for 7 days. On day 7 plasma samples were taken every 4 hours for a 24-hour period as well as a complete urine sample. Individuals with at least one CYP2C19*2 allele had a higher steady-state plasma area under the plasma concentration-time curve for bupropion, erythrohydrobupropion and theohydrobupropion as compared to CYP2C19*1. Hydroxybupropion was not significantly different between CYP2C19*1 and CYP2C19*2.","sentence":"CYP2C19 *2 is associated with increased exposure to bupropion in healthy individuals as compared to CYP2C19 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5612381","article_title":"CYP2B6 Genotypes and Early Efavirenz-based HIV Treatment Outcomes in Botswana","article_path":"articles/PMC5612381.md","variant_annotation_id":1448636173,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":28692529,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"This is for CYP2B6 516G>T.","sentence":"Genotypes GT + TT is associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC7497848","article_title":"Potential role of polymorphisms in the transporter genes ENT1 and MATE1/OCT2 in predicting TAS-102 efficacy and toxicity in patients with refractory metastatic colorectal cancer","article_path":"articles/PMC7497848.md","variant_annotation_id":1449001814,"variant_haplotypes":"rs760370","gene":"SLC29A1","drugs":"tipiracil hydrochloride, trifluridine","pmid":28992563,"phenotype_category":"Efficacy","significance":"yes","notes":"The G allele was tested for association alone and with two other SNPs after univariate and multivariate analysis in training (N= 52, Japan) and testing cohorts (N = 127, Italy). It was associated with improved progression-free and overall survival in the training and testing cohorts after univariate and multivariate analyses. When tested with other SNPs (rs2289669 G>A and rs316019 A>C) it was also associated with overall, but not progression-free survival.","sentence":"Genotypes AG + GG is associated with increased response to tipiracil hydrochloride and trifluridine in people with Colorectal Neoplasms as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC2652833","article_title":"A Genome-Wide Association Study Confirms VKORC1, CYP2C9, and CYP4F2 as Principal Genetic Determinants of Warfarin Dose","article_path":"articles/PMC2652833.md","variant_annotation_id":827641903,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":19300499,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele C is associated with decreased dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170836,"variant_haplotypes":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2D6","drugs":"endoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes are associated with concentrations of endoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4444267","article_title":"Lack of Associations of CHRNA5-A3-B4 Genetic Variants with Smoking Cessation Treatment Outcomes in Caucasian Smokers despite Associations with Baseline Smoking","article_path":"articles/PMC4444267.md","variant_annotation_id":1444930293,"variant_haplotypes":"rs578776","gene":"CHRNA3","drugs":"nicotine","pmid":26010901,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The A allele of s578776 was significantly associated with 8% lower cotinine levels, but the association was no longer significant after adjusting for rs16969968 (the per allele effect size was -8.2 ng/mL, CI = -20.24\u20133.93 and P = 0.19 vs. -18.9 ng/mL without adjustment P = 0.002 ).","sentence":"Allele A is not associated with dose of nicotine in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3858547","article_title":"High imatinib dose overcomes insufficient response associated with ABCG2 haplotype in chronic myelogenous leukemia patients","article_path":"articles/PMC3858547.md","variant_annotation_id":1184512528,"variant_haplotypes":"rs2725252","gene":"ABCG2","drugs":"imatinib","pmid":24123600,"phenotype_category":"Efficacy","significance":"yes","notes":"Individuals with the AC or CC genotype had a higher cumulative incidence of major molecular response (CI-MMR, estimated using Sokal score) after 18 months of treatment with a 400mg/day dose of imatinib, as compared to those with the AA genotype. No significant results were seen when considering patients taking a 600mg/day dose (n=107; p < 0.74). The authors note that they used the Benjamini and Hochberg method for multiple testing issues. Please also note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AC + CC is associated with increased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5465325","article_title":"The impact of CES1 genotypes on the pharmacokinetics of methylphenidate in healthy Danish subjects","article_path":"articles/PMC5465325.md","variant_annotation_id":1448573551,"variant_haplotypes":"rs71647871","gene":"CES1","drugs":"methylphenidate","pmid":28087982,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Metabolism assessed through AUC.","sentence":"Allele T is associated with decreased metabolism of methylphenidate in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5883590","article_title":"Effect of CYP3 A4, CYP3 A5 and ABCB1 gene polymorphisms on the clinical efficacy of tacrolimus in the treatment of nephrotic syndrome","article_path":"articles/PMC5883590.md","variant_annotation_id":1449748447,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"tacrolimus","pmid":29615122,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AA genotype had a higher effectiveness of clinical treatment as compared to those with the AG or GG genotypes. Effective response included patients with complete or partial remission, and ineffective response included patients with no remission or recurrence.","sentence":"Genotype AA is associated with increased response to tacrolimus in people with Nephrotic Syndrome as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Nephrotic Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10196221","article_title":"Genetic variants influenced the risk of bleeding and pharmacodynamics of rivaroxaban in patients with nonvalvular atrial fibrillation: A multicentre prospective cohort study","article_path":"articles/PMC10196221.md","variant_annotation_id":1452107367,"variant_haplotypes":"rs13224758","gene":"PRKAG2","drugs":"rivaroxaban","pmid":37203300,"phenotype_category":"Toxicity","significance":"no","notes":"as measured by peak anti\u2010FXa level. Association described as \"suggestive\". \"The incidence of bleeding events were significantly related to the peak anti\u2010FXa level, which were significantly increased in patients with bleeding events than in those without\"","sentence":"Allele G is associated with increased response to rivaroxaban in people with Atrial Fibrillation as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2292110","article_title":"Associations Between SNPs in Toll-like Receptors and Related Intracellular Signaling Molecules and Immune Responses to Measles Vaccine: Preliminary Results","article_path":"articles/PMC2292110.md","variant_annotation_id":608431157,"variant_haplotypes":"rs3775291","gene":"TLR3","drugs":"Measles vaccines","pmid":18325643,"phenotype_category":"Efficacy","significance":"yes","notes":"compared to both homozygous genotypes","sentence":"Genotype CT is associated with decreased response to Measles vaccines as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144244,"variant_haplotypes":"rs6728642","gene":"FAM178B","drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5266160","article_title":"Clinical and genetic factors associated with warfarin maintenance dose in northern Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC5266160.md","variant_annotation_id":1448567637,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":28079798,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"CYP2C9 *1/*3 + *3/*3 are associated with decreased dose of warfarin in people with heart valve replacement as compared to CYP2C9 *1/*1.","alleles":"*1/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC5684285","article_title":"Influence of genetic co-factors on the population pharmacokinetic model for clopidogrel and its active thiol metabolite","article_path":"articles/PMC5684285.md","variant_annotation_id":1449002181,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"clopidogrel, clopidogrel thiol metabolite H4","pmid":28914344,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Full pharmacokinetic profile was obtained from 17 subjects at 0.5, 1, 2, 3, and 4 h post clopidogrel dose. From 46 subjects samples were collected at 0.5 and 2 h or 1 and 3 h post-dose. Subjects were receiving PCI or elective coronarography.","sentence":"Allele T is not associated with exposure to clopidogrel or clopidogrel thiol metabolite H4 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3734199","article_title":"XRCC3 Thr241Met Polymorphism and Clinical Outcomes of NSCLC Patients Receiving Platinum-Based Chemotherapy: A Systematic Review and Meta-Analysis","article_path":"articles/PMC3734199.md","variant_annotation_id":1184511758,"variant_haplotypes":"rs861539","gene":"XRCC3","drugs":"Platinum compounds","pmid":23940523,"phenotype_category":"Efficacy","significance":"not stated","notes":null,"sentence":"Allele A is not associated with response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":655388232,"variant_haplotypes":"rs1871450","gene":"CHST3","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with data in pgkb, actual base not listed in paper)","sentence":"Allele A is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC7423195","article_title":"Impact of ABCG2 polymorphisms on the clinical outcome and toxicity of gefitinib in non-small-cell lung cancer patients","article_path":"articles/PMC7423195.md","variant_annotation_id":827784411,"variant_haplotypes":"rs2622604","gene":"ABCG2","drugs":"gefitinib","pmid":21332310,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype TT is not associated with increased response to gefitinib in people with Carcinoma, Non-Small-Cell Lung as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376573,"variant_haplotypes":"rs28386840","gene":"SLC6A2","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele T is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC6501809","article_title":"Pharmacokinetic-Pharmacodynamic interaction associated with venlafaxine-XR remission in patients with major depressive disorder with history of citalopram / escitalopram treatment failure","article_path":"articles/PMC6501809.md","variant_annotation_id":1451888500,"variant_haplotypes":"CYP2D6 ultrarapid metabolizer phenotype","gene":"CYP2D6","drugs":"venlafaxine","pmid":30578947,"phenotype_category":"Efficacy","significance":"not stated","notes":"In citalopram non-remission subjects venlafaxine-XR remission was associated with CYP2D6 metabolism phenotype (p = 0.027). Specifically, remission rates were higher among UM (n=5, 71.4%) in comparison to CYP2D6 PM (n=1, 10%).","sentence":"CYP2D6 ultrarapid metabolizer is associated with increased response to venlafaxine as compared to CYP2D6 poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"poor metabolizer"} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438700,"variant_haplotypes":"rs4682844","gene":"CCDC12","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 6.0E-7.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5531276","article_title":"Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to photodynamic therapy","article_path":"articles/PMC5531276.md","variant_annotation_id":981478561,"variant_haplotypes":"rs1061170","gene":"CFH","drugs":"Photodynamic therapy","pmid":18292785,"phenotype_category":"Efficacy","significance":"yes","notes":"Visual acuity post-PDT was significantly worse in patients with the TT genotype than for patients with either the TC or CC genotype. This is interesting because having the C allele puts patients at higher risk of developing age-related macular degeneration. While this association with PDT was found to be true for the cohort overall (P=0.05), when subjects were separated based on lesion type, significance was only found in patients with predominantly classic lesions, not in those with occult lesions.","sentence":"Genotype TT is associated with decreased response to photodynamic therapy in people with Macular Degeneration as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} +{"pmcid":"PMC4473094","article_title":"Impact of polymorphisms of the GGCX gene on maintenance warfarin dose in Chinese populations: Systematic review and meta-analysis","article_path":"articles/PMC4473094.md","variant_annotation_id":1444936324,"variant_haplotypes":"rs699664","gene":"GGCX","drugs":"warfarin","pmid":26106580,"phenotype_category":"Dosage","significance":"no","notes":"This meta-analysis in Chinese patients showed no difference in mean daily warfarin dose (MDWD) for various genotypes of GGCX variant rs699664.","sentence":"Allele T is not associated with dose of warfarin as compared to genotype CC.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC5342670","article_title":"IL-3 and CTLA4 gene polymorphisms may influence the tacrolimus dose requirement in Chinese kidney transplant recipients","article_path":"articles/PMC5342670.md","variant_annotation_id":1448613208,"variant_haplotypes":"rs4646437","gene":"CYP3A4","drugs":"tacrolimus","pmid":28112181,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was significant in CYP3A5 nonexpressors but not in CYP3A5 expressers. The time of measurement was 90 days after transplantation. Day 7 and day 30 after transplantation did not show a significant association, though the same trend was seen.","sentence":"Genotype GG is associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3522814","article_title":"Pharmacogenetic markers of CYP2B6 associated with efavirenz plasma concentrations in HIV-1 infected Thai adults","article_path":"articles/PMC3522814.md","variant_annotation_id":1448993954,"variant_haplotypes":"rs8100458","gene":"CYP2B6","drugs":"efavirenz","pmid":22471906,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes CT + TT are not associated with concentrations of efavirenz in people with HIV Infections as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6049926","article_title":"No association between IFNL3 (IL28B) genotype and response to peginterferon alfa-2a in HBeAg-positive or -negative chronic hepatitis B","article_path":"articles/PMC6049926.md","variant_annotation_id":1449713186,"variant_haplotypes":"rs12980275","gene":"IFNL3","drugs":"peginterferon alfa-2a","pmid":30016335,"phenotype_category":"Efficacy","significance":"no","notes":"The authors found no association between IFNL3 genotype and peginterferon 2a response in either HBeAg-positive or HBeAg-negative chronic hepatitis B patients, in both Asian and White patients.","sentence":"Genotype AA is not associated with response to peginterferon alfa-2a in people with Hepatitis B, Chronic as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis B, Chronic","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874620,"variant_haplotypes":"rs4148323","gene":"UGT1A1","drugs":"clozapine","pmid":40048458,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"In the model adjusted for clinical predictors of clozapine concentration, including smoking status and cumulative dose of clozapine, five SNPs (rs28371726 and rs202102799 in CYP2D6; rs4148323 and rs34946978 in UGT1A1; and rs2011404 in UGT1A4) showed significant associations with clozapine concentration. The rs number for each SNP associated with clozapine concentration is shown in Table 3.\" Table does not state which allele or direction of effect for these SNPs, so assuming minor allele and decreased concentration (beta value in table is negative).","sentence":"Allele A is associated with decreased concentrations of clozapine in people with Schizophrenia or Psychotic Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3143437","article_title":"Factors influencing plasma nevirapine levels: a study in HIV-infected children on generic antiretroviral treatment in India","article_path":"articles/PMC3143437.md","variant_annotation_id":827849230,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"nevirapine","pmid":21393201,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT is associated with decreased clearance of nevirapine in children with HIV Infections as compared to genotypes GG + GT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC3029819","article_title":"OCT1 polymorphism is associated with response and survival time in anti-Parkinsonian drug users","article_path":"articles/PMC3029819.md","variant_annotation_id":981483940,"variant_haplotypes":"rs622342","gene":"SLC22A1","drugs":"amantadine, Anticholinergics, levodopa, selegiline","pmid":20680652,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"For each copy of the C allele, between the first and fifth levodopa prescriptions, the sum of the prescribed doses of all anti-Parkinsonian drugs were 0.34 defined daily dose higher (There was no change seen for the doses of dopamine agonists.)","sentence":"Allele C is associated with increased dose of amantadine, Anticholinergics, levodopa or selegiline in people with Parkinson Disease.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Parkinson Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2792638","article_title":"Angiotensin-converting enzyme gene polymorphism predicts the time-course of blood pressure response to angiotensin converting enzyme inhibition in the AASK trial","article_path":"articles/PMC2792638.md","variant_annotation_id":982048062,"variant_haplotypes":"rs4344","gene":"ACE","drugs":"ramipril","pmid":17885551,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP was also reported as ACE G12269A. This SNP was in linkage disequilibrium with the ACE Ins/Del (rs1799752), D' = .98, and rs4359, D' = .88. Patients homozygous for this SNP (AA or GG) responded to ACE inhibitor treatment (reached target blood pressure) almost twice as fast as patients heterozygous (AG) for this SNP.","sentence":"Genotypes AA + GG are associated with increased response to ramipril in people with Hypertension as compared to genotype AG.","alleles":"AA + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} +{"pmcid":"PMC4872428","article_title":"Antipsychotic pharmacogenomics in first episode psychosis: a role for glutamate genes","article_path":"articles/PMC4872428.md","variant_annotation_id":1447949447,"variant_haplotypes":"rs2069062","gene":"GRM7","drugs":"risperidone","pmid":26905411,"phenotype_category":"Efficacy","significance":"yes","notes":"Psychotic-naive or minimal antipsychotic exposure. Improvement measured with Brief Psychiatric Rating Scale.","sentence":"Genotype CC is associated with increased response to risperidone in people with as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162946,"variant_haplotypes":"rs1057868","gene":"POR","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3292264","article_title":"Exploration of CYP450 and drug transporter genotypes and correlations with nevirapine exposure in Malawians","article_path":"articles/PMC3292264.md","variant_annotation_id":827823838,"variant_haplotypes":"rs1523130","gene":"NR1I2","drugs":"nevirapine","pmid":22111602,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"no association with PK parameters area under the concentration time curve or apparent oral clearance of the drug. [stat_test: univariate and multiple linear regression]","sentence":"Genotypes CC + CT are not associated with decreased clearance of nevirapine in people with HIV Infections as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4938133","article_title":"5-HTR1A and 5-HTR2A genetic polymorphisms and SSRI antidepressant response in depressive Chinese patients","article_path":"articles/PMC4938133.md","variant_annotation_id":1452039884,"variant_haplotypes":"rs6313","gene":"HTR2A","drugs":"citalopram, fluoxetine, paroxetine, sertraline","pmid":27445478,"phenotype_category":"Efficacy","significance":"no","notes":"Response/remission measured using HAMD.","sentence":"Allele A is not associated with response to citalopram, fluoxetine, paroxetine or sertraline in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874735,"variant_haplotypes":"rs762502","gene":"DRD4","drugs":"clozapine","pmid":40048458,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. Table does not state which allele or direction of effect for these SNPs, so assuming minor allele and benefit, PANSS beta is in Table negative. \"four SNPs in two genes were significantly associated with the total PANSS score: rs7787082 and rs10248420 in ABCB1 and rs2133251840 and rs762502 in DRD4 (Table 5). Among these, only one SNP in DRD4 (rs2133251840) resulted in different total PANSS scores at visits 3 and 4 according to its genotype\"","sentence":"Allele C is associated with increased clinical benefit to clozapine in people with Schizophrenia or Psychotic Disorder as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC8599229","article_title":"An association of ABCG8: rs11887534 polymorphism and HDL-cholesterol response to statin treatment in the Polish population","article_path":"articles/PMC8599229.md","variant_annotation_id":1451569620,"variant_haplotypes":"rs11887534","gene":"ABCG8","drugs":"atorvastatin, simvastatin","pmid":34173968,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The only significant differences between both genotype groups of patients; concerned HDL-C concentrations after statin use as well; as absolute and relative changes in HDL-C concentrations.; In contrast to GG homozygotes, patients with GC + CC; genotypes showed a decrease in post-statin HDL-C concentrations, and negative absolute and relative differences; in HDL-C concentrations \"","sentence":"Genotypes CC + CG is associated with decreased clinical benefit to atorvastatin or simvastatin in people with Dyslipidaemia as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Dyslipidaemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC2564574","article_title":"Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation","article_path":"articles/PMC2564574.md","variant_annotation_id":827647045,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":16611750,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC9468644","article_title":"The impact of CYP2D6*41 on CYP2D6 enzyme activity using phenotyping methods in urine, plasma, and saliva","article_path":"articles/PMC9468644.md","variant_annotation_id":1452854143,"variant_haplotypes":"CYP2D6*41","gene":"CYP2D6","drugs":"dextromethorphan","pmid":36110554,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Statistically significant increases were observed in the salivary, plasma, and urinary MR values in subjects with CYP2D6*1(or *2)/*1(or *2), *1 (or *2)/*41, *10/*41, and *5/*41 (all p values < 0.05). This result means that as compared with the wild type, one CYP2D6*41 allele combined with one full function allele will significantly reduce the enzyme activity. Likewise, one CYP2D6*41 allele combined with one reduced function allele and one CYP2D6*41 allele combined with one nonfunctional allele will reduce the enzyme activity further and further with statistical significance.\"; CYP2D6*1/*2 (n = 33), CYP2D6*2/*2 (n = 4), CYP2D6*1/*41 (n = 5), CYP2D6*2/*41 (n = 3), CYP2D6*10/*41 (n = 16), and CYP2D6*5/*41 (n = 4)","sentence":"CYP2D6 *41 is associated with decreased metabolism of dextromethorphan in healthy individuals.","alleles":"*41","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166128,"variant_haplotypes":"rs11559290","gene":"ETFDH","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680740,"variant_haplotypes":"rs4803419","gene":"CYP2B6","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype CC is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC9830790","article_title":"A two-stage genome-wide association study identifies novel germline genetic variations in CACNA2D3 associated with radiotherapy response in nasopharyngeal carcinoma","article_path":"articles/PMC9830790.md","variant_annotation_id":1451987900,"variant_haplotypes":"rs11130424","gene":"CACNA2D3","drugs":"radiotherapy","pmid":36624463,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The G allele carriers were more resistant to radiotherapy\" \"The efficacy was better in minor allele carriers of rs11130424 than major allele\"","sentence":"Genotypes AG + GG is associated with increased resistance to radiotherapy in people with Nasopharyngeal Neoplasms as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Nasopharyngeal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC1474035","article_title":"Variation in the Gene Encoding the Serotonin 2A Receptor Is Associated with Outcome of Antidepressant Treatment","article_path":"articles/PMC1474035.md","variant_annotation_id":1452040207,"variant_haplotypes":"rs6311","gene":"HTR2A","drugs":"citalopram","pmid":16642436,"phenotype_category":"Efficacy","significance":"no","notes":"Remitters achieved a QIDS-C score of <= 5 at the last treatment visit; probable remitters achieved a score of 6 or 7. Non- remitters had a QIDS-C16 score of >= 10 at the last visit. Those with a final QIDS-C16 score in the borderline range of 8 and 9 were excluded from analysis. Responders achieved at least a 50% reduction in base- line QIDS-C16 at the last treatment visit; probable respond- ers achieved a 45%\u201350% reduction. Nonresponders did not achieve even a 40% reduction in baseline QIDS-C score at the last treatment visit. Those with a reduction in QIDS-C16 in the borderline range of 40%\u201345% were excluded from analysis.","sentence":"Allele T is not associated with response to citalopram in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5316454","article_title":"Does i-T744C P2Y12 Polymorphism Modulate Clopidogrel Response among Moroccan Acute Coronary Syndromes Patients?","article_path":"articles/PMC5316454.md","variant_annotation_id":1448604375,"variant_haplotypes":"rs2046934","gene":"P2RY12","drugs":"clopidogrel","pmid":28261502,"phenotype_category":"Efficacy","significance":"no","notes":"The G allele frequency was higher among resistant than nonresistant patients (30% versus 20.8%, resp.).","sentence":"Allele G is associated with resistance to clopidogrel in people with Acute coronary syndrome as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Acute coronary syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5404990","article_title":"A cis-eQTL in OPRM1 is Associated with Subjective Response to Alcohol and Alcohol Use","article_path":"articles/PMC5404990.md","variant_annotation_id":1450824453,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":28273335,"phenotype_category":"Dosage","significance":"no","notes":"No significant association between this variant and drinking levels.","sentence":"Genotypes AG + GG are not associated with dose of ethanol as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5411458","article_title":"CYP2D6 Phenotyping Using Urine, Plasma, and Saliva Metabolic Ratios to Assess the Impact of CYP2D6\u221710 on Interindividual Variation in a Chinese Population","article_path":"articles/PMC5411458.md","variant_annotation_id":1448617690,"variant_haplotypes":"CYP2D6*1, CYP2D6*10","gene":"CYP2D6","drugs":"dextromethorphan","pmid":28512430,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Single dose study with 15mg dextromethorphan DM. Urine, Plasma, and Saliva Metabolic Ratios were accessed. Subjects were genotyped by DNA sequencing analysis for CYP2D6*1, *2, *3, *4, *6, *7, *10, *14, *18, *21, *28, *33, *34, *35, *36, *39, *41, *43, *49, *51, *52, *54, *60, *63, *65, *69, *71, and *75 and CNV were determined. *1/*10 n= 93; *10/*10 n=85. The urinary, plasma, or salivary MRs increased successively in subjects with CYP*1/*1, *1/*10, *10/*10, and *5/*10 with statistical significance (all P-values < 0.001).","sentence":"CYP2D6 *10/*10 is associated with decreased metabolism of dextromethorphan in healthy individuals as compared to CYP2D6 *1/*10.","alleles":"*10/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*10","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896129,"variant_haplotypes":"rs35806662","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC7115450","article_title":"Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial","article_path":"articles/PMC7115450.md","variant_annotation_id":1451148571,"variant_haplotypes":"rs6313","gene":"HTR2A","drugs":"escitalopram","pmid":31721892,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to escitalopram in people with Depression as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4154892","article_title":"The involvement of Kras gene 3\u2032-UTR polymorphisms in risk of cancer and influence on patient response to anti-EGFR therapy in metastatic colorectal cancer: a meta-analysis","article_path":"articles/PMC4154892.md","variant_annotation_id":1446909124,"variant_haplotypes":"rs61764370","gene":"KRAS","drugs":"cetuximab, panitumumab","pmid":25210463,"phenotype_category":"Efficacy","significance":"no","notes":"In the results section the uncorrected p value listed looks good but when looking at Table 3 can see the corrected p value is not significant and authors state result is not significant.","sentence":"Genotypes AC + CC is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC3396003","article_title":"The Relationship Between Single Nucleotide Polymorphisms in 5-HT2A Signal Transduction-Related Genes and the Response Efficacy to Selective Serotonin Reuptake Inhibitor Treatments in Chinese Patients with Major Depressive Disorder","article_path":"articles/PMC3396003.md","variant_annotation_id":1452040040,"variant_haplotypes":"rs2230739","gene":"ADCY9","drugs":"antidepressants","pmid":22480177,"phenotype_category":"Efficacy","significance":"yes","notes":"long term response measured using HAMD","sentence":"Genotype CC is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703605,"variant_haplotypes":"rs9285669","gene":null,"drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in systolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele A is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144250,"variant_haplotypes":"rs62200793","gene":"ZNF804A","drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele T is associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5508045","article_title":"The impact of non-genetic and genetic factors on a stable warfarin dose in Thai patients","article_path":"articles/PMC5508045.md","variant_annotation_id":1448624168,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":28550460,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotypes AC + CC are associated with decreased dose of warfarin in people with Atrial Fibrillation, heart valve replacement, Hypertension, Pulmonary, Pulmonary Embolism and Venous Thrombosis as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation, Disease:Heart valve replacement, Disease:Pulmonary Hypertension, Disease:Pulmonary Embolism, Disease:Venous Thrombosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC6219441","article_title":"Comprehensive Ara-C SNP score predicts leukemic cell intracellular ara-CTP levels in pediatric acute myeloid leukemia patients","article_path":"articles/PMC6219441.md","variant_annotation_id":1449752066,"variant_haplotypes":"rs11030918","gene":"RRM1","drugs":"ara-CTP","pmid":30088438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes CT + TT is associated with decreased concentrations of ara-CTP in children with Leukemia, Myeloid, Acute as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC10827494","article_title":"An increase in urinary primaquine and a reduction in urinary primaquine-5,6-orthoquinone in the Thai population with CYP2D6 reduced enzyme function","article_path":"articles/PMC10827494.md","variant_annotation_id":1452370680,"variant_haplotypes":"CYP2D6 intermediate metabolizer","gene":"CYP2D6","drugs":"primaquine","pmid":38293439,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"For urine data, CYP2D6 IM showed a significant increase in normalized total CAE of primaquine compared to CYP2D6 NM (2444 (1697\u20133594) vs. 1757 (1092\u20132185) \u03bcg/mg/kg, respectively, p = 0.039, Table 3, Fig. 2, Fig. 3A), but not for CLr. The normalized total CAE of POQ was significantly lower in CYP2D6 IM than in CYP2D6 NM (115 (46\u2013297) vs. 318 (92\u2013498) \u03bcg/mg/kg, respectively, p = 0.047, Table 3, Fig. 2, Fig. 3B). \"","sentence":"CYP2D6 intermediate metabolizer is associated with decreased metabolism of primaquine in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC10145266","article_title":"Pharmacokinetic Evaluation of Tacrolimus in Chinese Adult Patients during the Early Stages Post-Lung Transplantation","article_path":"articles/PMC10145266.md","variant_annotation_id":1452087040,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":37109042,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Cohort was predominantly male (n=12). There was one *1/*1, 8 *1/*3 and 5 *3/*3. CYP3A5*3 (rs776746) and CYP3A4*1G (rs2242480) were genotyped. Patients received voriconazole.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased clearance of tacrolimus in people with lung transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479724,"variant_haplotypes":"rs2069522","gene":"CYP1A2","drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC6493124","article_title":"Influence of Genetic Polymorphisms Involved in the Hypothalamic\u2013Pituitary\u2013Adrenal Axis and their Interactions with Environmental Factors on Antidepressant Response","article_path":"articles/PMC6493124.md","variant_annotation_id":1296599021,"variant_haplotypes":"rs28364032","gene":"CRHR1","drugs":"antidepressants","pmid":24422887,"phenotype_category":"Efficacy","significance":"yes","notes":"Those who were classified as \"remitters\" had a higher frequency of the AA+AG genotype as compared to \"non-remitters\". Remission was defined as total HAMD-17 score of <= 7 after 8 weeks of treatment. Corrected p-values using permutation testing. Note that significant results were also seen when considering only SSRIs (allelic association p=0.024) or SNRIs (allelic association p=0.010), but these results did not withstand permutation testing.","sentence":"Genotypes AA + AG is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032521,"variant_haplotypes":"rs7118900","gene":"ANKK1","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was statistically significant after permutation analysis based on 40,000 replicates, but not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction). Note; this association may be linked to the association with rs2283265 in the DRD2 gene.","sentence":"Genotypes AA + AG are associated with decreased dose of methadone in people with Heroin Dependence as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10880038","article_title":"The effect of genetic variants in the transcription factor TSPYL family on the CYP3A4 mediated cyclosporine metabolism in kidney transplant patients","article_path":"articles/PMC10880038.md","variant_annotation_id":1452391500,"variant_haplotypes":"rs3828743","gene":"TSPYL1","drugs":"cyclosporine","pmid":38380703,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This was significant in whole group but not in women only group. \"Rs3828743 homozygous carriers showed a decreased cyclosporine CL/F compared to the combined heterozygous carriers and wildtypes (28.72 vs. 35.03, p\u2009=\u20090.018; Figure 2 and Table 3). Furthermore, after adjusting for CYP3A4*22 genotype, steroid usage, and body weight, the effect size of rs3828743 on cyclosporine clearance increased compared to the univariate analysis. In the multivariate model, cyclosporine clearance was 18% lower when comparing homozygous carriers to heterozygous and wildtype patients.\" \"Interestingly, the effect of rs3828743 was only observed in men. In men, homozygous variant carriers had an ~21% decreased clearance compared to heterozygous carriers and wildtypes (28.57 vs. 35.97, p\u2009=\u20090.0052; Figure S2 and Table 4). By contrast, no effect of rs3828743 genotypes was observed in women with the exception of a significantly increased clearance (p\u2009=\u20090.026) in the heterozygous carriers compared to the wildtype women (Figure S3).\"","sentence":"Genotypes AG + GG is associated with increased clearance of cyclosporine in men with Kidney Transplantation as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003493,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Median concentrations of lumefantrine 7 days after beginning treatment with artemether-lumefantrine was significantly higher in carriers of the C allele as compared to non-carriers.","sentence":"Allele C is associated with increased concentrations of lumefantrine in women with Malaria and Pregnancy as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Other:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC10214567","article_title":"Ivacaftor: Five\u2010year outcomes in the West of Scotland cystic fibrosis population","article_path":"articles/PMC10214567.md","variant_annotation_id":1452051340,"variant_haplotypes":"rs75527207","gene":"CFTR","drugs":"ivacaftor","pmid":36938952,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by FEV improvement after 1 and 2 years of treatment compared to baseline FEV. Patients had \"at least one G551D mutation\" (which is a class III) and most (75-86%) had a second mutation of class II/severe.","sentence":"Allele A is associated with increased clinical benefit to ivacaftor in children with Cystic Fibrosis.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC8800862","article_title":"The Cyp2b6 Gene Polymorphism and Phenotypic Correlation of Efavirenz-Based Combination Therapy Among the Niger Delta Ethnic Population: Implications in Modern Pharmacogenomics","article_path":"articles/PMC8800862.md","variant_annotation_id":1451686760,"variant_haplotypes":"CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":35115810,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"p value given for concordance of genotype with observed phenotype (UM, EM, IM, PM) where PM = 4.0\u20136.0ml/L plasma efavirenz (600 mg of efavirenz for at least 3 weeks) and concordant with *6/*6 and IM = 1.0\u20133.9mg/L plasma efavirenz and concordant with *1/*6.","sentence":"CYP2B6 *6 is associated with increased concentrations of efavirenz in people with HIV Infections.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3100585","article_title":"Induction of CYP3A4 by Vinblastine: Role of the Nuclear Receptor NR1I2","article_path":"articles/PMC3100585.md","variant_annotation_id":827811136,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"midazolam","pmid":20959500,"phenotype_category":"Other, Metabolism/PK","significance":"no","notes":"It's not clear exactly what genotype comparison was done or what the genotypes were, but there was approximately one CT subject and 5 CC subjects, and frequency entered below was based upon that. Subjects were treated with vinblastine/valspodar. [stat_test: nonparametric 2-sided Wilcoxon signed-rank].","sentence":"Allele T is not associated with increased clearance of midazolam in people with Carcinoma, Renal Cell as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4706412","article_title":"A Novel Admixture-Based Pharmacogenetic Approach to Refine Warfarin Dosing in Caribbean Hispanics","article_path":"articles/PMC4706412.md","variant_annotation_id":1447682688,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":26745506,"phenotype_category":"Dosage","significance":"yes","notes":"The authors aimed to develop an admixture-adjusted (genetic ancestry) PGx dosing algorithm for warfarin in Caribbean Hispanics from Puerto Rico. [Algorithm R sq.=0.70, MAE = 0.72 mg/day]. When externally validated with 55 individuals from an independent cohort the novel algorithm predicted 58% of the warfarin dose variance [MAE = 0.89 mg/day, 24% mean bias]. Please note: the derivation cohort was 99% male.","sentence":"Genotypes CT + TT are associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4669157","article_title":"HLA-G 3\u2019UTR Polymorphisms Impact the Prognosis of Stage II-III CRC Patients in Fluoropyrimidine-Based Treatment","article_path":"articles/PMC4669157.md","variant_annotation_id":1447678770,"variant_haplotypes":"rs371194629","gene":"HLA-G","drugs":"capecitabine, fluorouracil","pmid":26633805,"phenotype_category":"Efficacy","significance":"yes","notes":"The authors examined disease free survival (DFS) as well as overall survival (OS). The ins/del + ins/ins genotypes were associated with improved DFS, but not OS.","sentence":"Genotypes ATTTGTTCATGCCT/ATTTGTTCATGCCT + ATTTGTTCATGCCT/del is associated with increased response to capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype del/del.","alleles":"ATTTGTTCATGCCT/ATTTGTTCATGCCT + ATTTGTTCATGCCT/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"del/del","comparison_metabolizer_types":null} +{"pmcid":"PMC4697903","article_title":"NUDT15 c.415C>T increases risk of 6-mercaptopurine induced myelosuppression during maintenance therapy in children with acute lymphoblastic leukemia","article_path":"articles/PMC4697903.md","variant_annotation_id":1447682410,"variant_haplotypes":"rs1127354","gene":"ITPA","drugs":"mercaptopurine","pmid":26405151,"phenotype_category":"Dosage","significance":"no","notes":"No significant difference in median cumulative dose was seen between the genotypes at 2 months (p=0.55), 4 months (p=0.81) or 6 months (p=0.78) of the mercaptopurine maintenance phase.","sentence":"Genotype CC is not associated with dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes AA + AC.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144213,"variant_haplotypes":"rs59724122","gene":"EPHX2","drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele T is associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113806,"variant_haplotypes":"rs2075572","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele C is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11241034","article_title":"Exudative Age-Related Macular Degeneration: Association between Treatment Efficacy and Single-Nucleotide Variants in RAD51B, TRIB1, COL8A1, COL10A1, IL-9, IL-10, and VEGFA Genes","article_path":"articles/PMC11241034.md","variant_annotation_id":1452530280,"variant_haplotypes":"rs4351379","gene":"TRIB1","drugs":"VEGF/VEGFR (Vascular Endothelial Growth Factor) inhibitors","pmid":38999967,"phenotype_category":"Efficacy","significance":"no","notes":"\"Also, we revealed that CMT decreased more for rs4351379 heterozygous and homozygous minor allele carriers than for wild-type genotype carriers after 6 months of treatment (p = 0.030), but these results did not survive the strict Bonferroni correction for multiple comparison.\"","sentence":"Genotypes CC + CG is associated with decreased response to VEGF/VEGFR (Vascular Endothelial Growth Factor) inhibitors in people with Macular Degeneration as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4982581","article_title":"Pharmacokinetic profiles of significant adverse events with crizotinib in Japanese patients with ABCB1 polymorphism","article_path":"articles/PMC4982581.md","variant_annotation_id":1450989200,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"crizotinib","pmid":27270784,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was only one individual who was AA at all three locations that define *2 (rs1128503, rs2032582 and rs1045642). Individuals who were AA at one location (n=3) also had slightly increased exposure compared to \"wild type or heterozygotes\" (n=4). Increased exposure was significantly associated with toxicity. (alleles complemented to plus chromosomal strand)","sentence":"Genotype AA is associated with increased exposure to crizotinib in people with.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC2879959","article_title":"Impact of the CYP2C19*17 Allele on the Pharmacokinetics of Omeprazole and Pantoprazole in Children: Evidence for a Differential Effect","article_path":"articles/PMC2879959.md","variant_annotation_id":1447947227,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"pantoprazole","pmid":20223877,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"There was not a statistically significant difference for PK parameters between *1/*1 and *1/*17, but there was a statistically significant difference between groups with 2 functional alleles vs. 1 functional allele (*1/*17+*2/*17) for AUC.","sentence":"CYP2C19 *1/*1 + *1/*17 is associated with increased metabolism of pantoprazole in children as compared to CYP2C19 *1/*2 + *2/*17.","alleles":"*1/*1 + *1/*17","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *2/*17","comparison_metabolizer_types":null} +{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032665,"variant_haplotypes":"rs2239622","gene":"NGF","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was not statistically significant. Alleles were reported as T/C, here they are complemented with A representing T and G representing C for the positive chromosomal strand.","sentence":"Genotype AA is not associated with decreased dose of methadone in people with Heroin Dependence as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC4872428","article_title":"Antipsychotic pharmacogenomics in first episode psychosis: a role for glutamate genes","article_path":"articles/PMC4872428.md","variant_annotation_id":1447949461,"variant_haplotypes":"rs1875705","gene":"GRID2","drugs":"risperidone","pmid":26905411,"phenotype_category":"Efficacy","significance":"yes","notes":"Psychotic-naive or minimal antipsychotic exposure. Improvement measured with Brief Psychiatric Rating Scale.","sentence":"Genotype GG is associated with increased response to risperidone in people with as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC5898372","article_title":"Genotypic and Phenotypic Factors Influencing Drug Response in Mexican Patients With Type 2 Diabetes Mellitus","article_path":"articles/PMC5898372.md","variant_annotation_id":1449310672,"variant_haplotypes":"rs12208357","gene":"SLC22A1","drugs":"sulfonamides, urea derivatives","pmid":29681852,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to sulfonamides, urea derivatives in people with Diabetes Mellitus as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC2194758","article_title":"Ethnic Stratification of the Association of RGS4 Variants with Antipsychotic Treatment Response in Schizophrenia","article_path":"articles/PMC2194758.md","variant_annotation_id":608431255,"variant_haplotypes":"rs2842030","gene":"RGS4","drugs":"risperidone","pmid":17588543,"phenotype_category":"Efficacy","significance":"not stated","notes":"compared to perphenazine, quetiapine, and ziprasidone treatment","sentence":"Genotype GG is associated with increased response to risperidone in people with Schizophrenia as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC11252221","article_title":"Pharmacokinetics and safety of mavacamten in healthy Chinese participants with different CYP2C19 phenotypes","article_path":"articles/PMC11252221.md","variant_annotation_id":1452535740,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"mavacamten","pmid":39014868,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"The total exposures for CYP2C19 IM and CYP2C19 PM were increased approximately 1.8\u2010 to 4\u2010fold when compared to CYP2C19 UM/RM/NM.\" There were no UM (*17/*17) or *3/*3.","sentence":"CYP2C19 *1/*2 + *1/*3 + *2/*3 + *2/*2 (assigned as intermediate metabolizer and poor metabolizer phenotype) is associated with increased exposure to mavacamten in healthy individuals as compared to CYP2C19 *1/*1 + *1/*17 (assigned as normal metabolizer and rapid metabolizer phenotype) .","alleles":"*1/*2 + *1/*3 + *2/*3 + *2/*2","specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17","comparison_metabolizer_types":"normal metabolizer and rapid metabolizer"} +{"pmcid":"PMC1365072","article_title":"Biotransformation and pharmacokinetics of ethylmorphine after a single oral dose","article_path":"articles/PMC1365072.md","variant_annotation_id":1451152645,"variant_haplotypes":"CYP2D6 poor metabolizer phenotype","gene":"CYP2D6","drugs":"ethylmorphine","pmid":7654478,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Study of ethylmorphine metabolism in ten healthy volunteers. Authors genotyped for the CYP2D6*3, *4, *5 and *9 alleles, referred to in the paper as CYP2D6A, CYP2D6B, CYP2D6D and CYP2D6C respectively. One subject had the *1/*3 genotype, two were *1/*4 and two had the *1/*5 genotype. All other subjects were *1/*1. However, the authors describe their results in terms of the metabolizer phenotypes obtained using ethylmorphine as a probe drug, which identified two poor metabolizers (one *1/*3 and one *1/*5) and eight normal metabolizers. The discussion section of the paper mentions that ethylmorphine is not a suitable probe drug for determining CYP2D6 activity, due to the existence of other ethylmorphine metabolic pathways via UGT1A and CYP3A.","sentence":"CYP2D6 poor metabolizer is associated with decreased metabolism of ethylmorphine in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703611,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype was not significantly with associated with likelihood of achieving major molecular response (MMR) within 12 months. MMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; MMR was a ratio <= 0.1%. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896207,"variant_haplotypes":"rs10954808","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5817388","article_title":"Association of CTH variant with sinusoidal obstruction syndrome in children receiving intravenous busulfan and cyclophosphamide before hematopoietic stem cell transplantation","article_path":"articles/PMC5817388.md","variant_annotation_id":1448525496,"variant_haplotypes":"rs1021737","gene":"CTH","drugs":"busulfan","pmid":27779248,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype TT is not associated with clearance of busulfan in children with Hematopoietic stem cell transplantation as compared to genotypes GG + GT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Hematopoietic stem cell transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC3912955","article_title":"Polymorphism of the complement receptor 1 gene correlates with the hematologic response to eculizumab in patients with paroxysmal nocturnal hemoglobinuria","article_path":"articles/PMC3912955.md","variant_annotation_id":1184512015,"variant_haplotypes":"rs3811381","gene":"CR1","drugs":"eculizumab","pmid":24038027,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as no red blood cell transfusion at any time after the first 6 months on eculizumab treatment (patients had a median follow-up of 52 months, range of 11-98 months). In the paper, CC = Pro/Pro.","sentence":"Genotypes CG + GG is not associated with response to eculizumab in people with paroxysmal nocturnal hemoglobinuria as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:paroxysmal nocturnal hemoglobinuria","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC11310823","article_title":"Pharmacogenetic Variants and Plasma Concentrations of Antiseizure Drugs: A Systematic Review and Meta-Analysis","article_path":"articles/PMC11310823.md","variant_annotation_id":1452563870,"variant_haplotypes":"CYP3A5 poor metabolizer","gene":"CYP3A5","drugs":"carbamazepine","pmid":39115847,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"CYP3A5 poor metabolizers exhibited a 12% (95% CI, 3%-22%) plasma concentration increase compared with carriers of functional CYP3A5 haplotypes (Table 3).\" \"CYP3A5*3: rs776746\"","sentence":"CYP3A5 poor metabolizer is associated with increased concentrations of carbamazepine as compared to CYP3A5 normal metabolizer and intermediate metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} +{"pmcid":"PMC3394147","article_title":"A case report of voriconazole therapy failure in a homozygous ultrarapid CYP2C19*17/*17 patient comedicated with carbamazepine","article_path":"articles/PMC3394147.md","variant_annotation_id":1444828143,"variant_haplotypes":"CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":22122271,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Case report: Patient had undetectable plasma levels of the drug, resulting in decreased exposure and discontinuation of drug (switched to alternative drug). Patient also taking carbamazepine.","sentence":"CYP2C19 *17/*17 (assigned as ultrarapid metabolizer phenotype) is associated with decreased concentrations of voriconazole.","alleles":"*17/*17","specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767286,"variant_haplotypes":"rs3008604","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele T is not associated with trough concentration of vancomycin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5684285","article_title":"Influence of genetic co-factors on the population pharmacokinetic model for clopidogrel and its active thiol metabolite","article_path":"articles/PMC5684285.md","variant_annotation_id":1449002165,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"clopidogrel thiol metabolite H4","pmid":28914344,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Full pharmacokinetic profile was obtained from 17 subjects at 0.5, 1, 2, 3, and 4 h post clopidogrel dose. From 46 subjects samples were collected at 0.5 and 2 h or 1 and 3 h post-dose. Subjects were receiving PCI or elective coronarography.","sentence":"Allele A is associated with exposure to clopidogrel thiol metabolite H4 as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934386,"variant_haplotypes":"rs398123226","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the C allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Asp322Glu in the paper.","sentence":"Allele C is associated with increased response to migalastat in people with Fabry Disease.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC3485381","article_title":"Variants Identified in a GWAS Meta-Analysis for Blood Lipids Are Associated with the Lipid Response to Fenofibrate","article_path":"articles/PMC3485381.md","variant_annotation_id":982015058,"variant_haplotypes":"rs964184","gene":"APOA1","drugs":"fenofibrate","pmid":23119086,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the G allele had a greater increase in high-density lipoprotein (HDL) cholesterol and triglyceride (TG) level between baseline and either 3 weeks or 8 weeks of fenofibrate treatment, as compared to those with the C allele. Two cohorts were used: the discovery cohort came from the National Heart, Lung and Blood Institute GOLDN study population, and the replication cohort came from the Pharmacogenetics of Hypertriglyceridemia in Hispanics (HyperTG) study. Participants from the GOLDN study received fenofibrate treatment for 3 weeks, participants from HyperTG received it for 8 weeks. Differences in the discovery study population were significant after correction for multiple testing.","sentence":"Allele G is associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC4719145","article_title":"SLCO1B1 genetic variants, long-term low-density lipoprotein cholesterol levels and clinical events in patients following cardiac catheterization","article_path":"articles/PMC4719145.md","variant_annotation_id":1447943994,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"hmg coa reductase inhibitors","pmid":25916517,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by plasma LDL-c.","sentence":"Allele C is associated with decreased response to hmg coa reductase inhibitors in people with Cardiovascular Diseases as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3419350","article_title":"CYP2C19 polymorphism affects single-dose pharmacokinetics of oral pantoprazole in healthy volunteers","article_path":"articles/PMC3419350.md","variant_annotation_id":1447947325,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"pantoprazole","pmid":22418828,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"AG = *1/*2 and GG = *1/*1. The study was done using pantoprazole. *2/*17 (n = 6) had concentration-time curves similar to *1/*1 subjects (typed only for *2 and *17).","sentence":"CYP2C19 *1/*2 is associated with decreased clearance of pantoprazole in healthy individuals as compared to CYP2C19 *1/*1.","alleles":"*1/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC2647710","article_title":"Association between glucokinase regulatory protein (GCKR) and apolipoprotein A5 (APOA5) gene polymorphisms and triacylglycerol concentrations in fasting, postprandial, and fenofibrate-treated states1","article_path":"articles/PMC2647710.md","variant_annotation_id":982044712,"variant_haplotypes":"rs662799","gene":"APOA5","drugs":"fenofibrate","pmid":19056598,"phenotype_category":"Efficacy","significance":"not stated","notes":"When combined with rs780094 CT + TT genotypes. This combined genotype group is associated with a greater reduction in triacylglycerol concentrations between baseline and 3 weeks of treatment, as compared to any other genotype combination. Adjusted for baseline triacylglycerol. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AG + GG are associated with increased response to fenofibrate in people with Hypertriglyceridemia.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC6328871","article_title":"Effects of OPRM1 and ABCB1 gene polymorphisms on the analgesic effect and dose of sufentanil after thoracoscopic-assisted radical resection of lung cancer","article_path":"articles/PMC6328871.md","variant_annotation_id":1450932012,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"sufentanil","pmid":30455395,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the AA genotype had significantly increased sufentanil consumption compared to patients with the AC or CC genotypes, while those with the AC genotype had significantly increased compared to patients with the CC genotype. Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes AA + AC are associated with increased dose of sufentanil in people with Lung Neoplasms and Pain, Postoperative as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"\"Other:Lung Neoplasms\", \"Other:Pain, Postoperative\"","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} +{"pmcid":"PMC6631257","article_title":"A Single Site Population Study to Investigate CYP2D6 Phenotype of Patients with Persistent Non-Malignant Pain","article_path":"articles/PMC6631257.md","variant_annotation_id":1451351665,"variant_haplotypes":"CYP2D6 normal metabolizers","gene":"CYP2D6","drugs":"codeine","pmid":31141989,"phenotype_category":"Efficacy","significance":"not stated","notes":"All CYP2D6 PMs, IMs and UMs in the study cohort were categorized as non-responders to codeine. Patients were genotyped for the *1, *2, *3, *4, *5, *6, *9, *10, *41 alleles as well as for allele duplication. Note that patients with a CYP2D6 activity score of 1 were assigned as normal metabolizers.","sentence":"CYP2D6 normal metabolizer is associated with increased response to codeine in people with Pain as compared to CYP2D6 ultrarapid metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"ultrarapid metabolizer"} +{"pmcid":"PMC3983993","article_title":"Variation in Mu-Opioid Receptor Gene (OPRM1) as a Moderator of Naltrexone Treatment to Reduce Heavy Drinking in a High Functioning Cohort","article_path":"articles/PMC3983993.md","variant_annotation_id":1449188815,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"naltrexone","pmid":24729984,"phenotype_category":"Efficacy","significance":"yes","notes":"A significant association was seen between the G allele and the likelihood of achieving a level of non-hazardous drinking (defined as drinking less than 14 standard drinks and having nor heavy drinking days in one week).; However, no significant main effect was observed between rs1799971, naltrexone and either the weekly sum of standard drinks or the number of heavy drinking days.","sentence":"Allele G is associated with increased response to naltrexone in men with Alcoholism as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC11481807","article_title":"Serotonin transporter 5-HTTLPR polymorphism and escitalopram treatment response in patients with major depressive disorder","article_path":"articles/PMC11481807.md","variant_annotation_id":1452647607,"variant_haplotypes":"rs962369","gene":"BDNF","drugs":"escitalopram","pmid":39407134,"phenotype_category":"Efficacy","significance":"no","notes":"\"No significant relationship between HTR2A rs9316233 and BDNF rs962369 variants with response to escitalopram treatment was observed.\" Table 3 lists C as minor allele and T as common allele.","sentence":"Allele C is not associated with decreased response to escitalopram in people with Major Depressive Disorder as compared to allele T (assigned as normal metabolizer phenotype) .","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC5743122","article_title":"Pharmacogenetic guidance: individualized medicine promotes enhanced pain outcomes","article_path":"articles/PMC5743122.md","variant_annotation_id":1449296299,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"folic acid","pmid":29317847,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Please note that alleles have been complemented to the positive stand.; Case study of a patient with the A allele at rs1801133 and the G allele at rs1801131 who subsequently responded to folate supplementation.","sentence":"Allele A is associated with decreased metabolism of folic acid.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC4323272","article_title":"Identification of a variant in KDR associated with serum VEGFR2 and pharmacodynamics of pazopanib","article_path":"articles/PMC4323272.md","variant_annotation_id":1185002754,"variant_haplotypes":"rs34231037","gene":"KDR","drugs":"pazopanib","pmid":25411163,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the G allele had greater decline over 4 weeks in [sVEGFR2] with; pazopanib exposure compared to non-carriers (mean decrease -3.5ng/mL vs -2.3 ng/mL, they also had lower baseline [sVEGFR2] measures. Serum VEGFR2 concentrations [sVEGFR2] is a pharmacodynamic biomarker for VEGFR2 inhibitors. No GG homozygotes were shown.","sentence":"Genotype AG is associated with increased response to pazopanib in people with Carcinoma, Renal Cell as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930679,"variant_haplotypes":"rs7178270","gene":"CHRNB4","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele G is not associated with exposure to nicotine in men as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5711795","article_title":"Pharmacogenetic study of seven polymorphisms in three nicotinic acetylcholine receptor subunits in smoking-cessation therapies","article_path":"articles/PMC5711795.md","variant_annotation_id":1449155973,"variant_haplotypes":"rs2072661","gene":"CHRNB2","drugs":"bupropion, nicotine, varenicline","pmid":29196725,"phenotype_category":"Efficacy","significance":"no","notes":"Authors looked at the effect of variants on response to the smoking cessation therapies varenicline, bupropion and nicotine replacement therapy.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to bupropion, nicotine and varenicline in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4437521","article_title":"Effect of N-acetylcysteine in COPD patients with different microsomal epoxide hydrolase genotypes","article_path":"articles/PMC4437521.md","variant_annotation_id":1447944067,"variant_haplotypes":"EPHX1 poor metabolizer","gene":"EPHX1","drugs":"acetylcysteine","pmid":25999707,"phenotype_category":"Efficacy","significance":"yes","notes":"Efficacy measured as improvement in FEV1, FEV1 % predicted, and SGRQ symptom score. Efficacy also measured in terms of reduction of exacerbation rate.","sentence":"EPHX1 poor metabolizer is associated with increased response to acetylcysteine in people with Pulmonary Disease, Chronic Obstructive as compared to genotype fast/normal (assigned as intermediate metabolizer and normal metabolizer phenotype) .","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic Obstructive Pulmonary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"fast/normal","comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} +{"pmcid":"PMC3657889","article_title":"Cytochrome P450 (CYP2C9*2,*3) & vitamin-K epoxide reductase complex (VKORC1 -1639G20 mg/wk (P=0.014).","sentence":"Allele T is associated with decreased dose of acenocoumarol as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC5520553","article_title":"Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma","article_path":"articles/PMC5520553.md","variant_annotation_id":1448820481,"variant_haplotypes":"rs9200","gene":"C6","drugs":"tacrolimus","pmid":28685716,"phenotype_category":"Metabolism/PK","significance":"no","notes":"When considering DONOR genotype - no significant difference in concentration/dose ratio was seen between those with the CC or CT genotype and to those with the TT genotype at weeks 1-4 of treatment. Patients with hepatocellular carcinoma. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CT are not associated with dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC5342670","article_title":"IL-3 and CTLA4 gene polymorphisms may influence the tacrolimus dose requirement in Chinese kidney transplant recipients","article_path":"articles/PMC5342670.md","variant_annotation_id":1448613188,"variant_haplotypes":"rs4553808","gene":"CTLA4","drugs":"tacrolimus","pmid":28112181,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was significant in CYP3A5 nonexpressors but the opposite association was seen in CYP3A5 expressers. The time of measurement was 30 days after transplantation. Day 7 and day 90 after transplantation did not show a significant association.","sentence":"Genotypes AG + GG is associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} +{"pmcid":"PMC4456129","article_title":"Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity","article_path":"articles/PMC4456129.md","variant_annotation_id":1444695457,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"methadone","pmid":25556837,"phenotype_category":"Dosage","significance":"no","notes":"Methadone maintenance dose was not associated with genotype of the SNP but it was correlated to the highest dose ever used. Multiple doses versus single dose, body weight, history of cocaine dependence and ethnicity (Asian>Caucasian>African) were independently associated with methadone dose in multiple regression analysis.","sentence":"Allele A is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438850,"variant_haplotypes":"rs866325353","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 5.0E-9.","sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479773,"variant_haplotypes":"rs2859229","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557981,"variant_haplotypes":"rs7624766","gene":null,"drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438740,"variant_haplotypes":"rs7970054","gene":"LRIG3","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 6.0E-7.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC4444267","article_title":"Lack of Associations of CHRNA5-A3-B4 Genetic Variants with Smoking Cessation Treatment Outcomes in Caucasian Smokers despite Associations with Baseline Smoking","article_path":"articles/PMC4444267.md","variant_annotation_id":1444930241,"variant_haplotypes":"rs16969968","gene":"CHRNA5","drugs":"nicotine, varenicline","pmid":26010901,"phenotype_category":"Efficacy","significance":"no","notes":"Response here refers to smoking cessation outcomes at 7 days and nicotine refers to nicotine patches. Smoking cessation outcomes at 6 months and 12 months were also not significantly associated with genotype.","sentence":"Genotype GG is not associated with response to nicotine or varenicline in people with Tobacco Use Disorder as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} +{"pmcid":"PMC3567337","article_title":"Genome-wide study of methotrexate clearance replicates SLCO1B1","article_path":"articles/PMC3567337.md","variant_annotation_id":981483700,"variant_haplotypes":"rs11045821","gene":"SLCO1B1","drugs":"methotrexate","pmid":23233662,"phenotype_category":"Efficacy, Toxicity, Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5346034","article_title":"Effect of UGT2B10, UGT2B17, FMO3, and OCT2 Genetic Variation on Nicotine and Cotinine Pharmacokinetics and Smoking in African Americans","article_path":"articles/PMC5346034.md","variant_annotation_id":1448602071,"variant_haplotypes":"rs2942857","gene":"UGT2B10","drugs":"cotinine","pmid":28178031,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This annotation was on rs116294140, but dbSNP has merged these two rs IDs.","sentence":"Genotype CC is associated with decreased clearance of cotinine in people with Tobacco Use Disorder as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} +{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449002964,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"no","notes":"Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele G is not associated with response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438732,"variant_haplotypes":"rs112914324","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 5.0E-9.","sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4707035","article_title":"Evaluation of genetic association of neurodevelopment and neuroimmunological genes with antipsychotic treatment response in schizophrenia in Indian populations","article_path":"articles/PMC4707035.md","variant_annotation_id":1447681685,"variant_haplotypes":"rs17716295","gene":"NRG1","drugs":"antipsychotics","pmid":26788534,"phenotype_category":"Efficacy","significance":"yes","notes":"In high severity schizophrenia patient subgroup","sentence":"Allele A is associated with decreased response to antipsychotics in people with Schizophrenia as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954104,"variant_haplotypes":"rs2640909","gene":"PER3","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC8141066","article_title":"ERICH3: vesicular association and antidepressant treatment response","article_path":"articles/PMC8141066.md","variant_annotation_id":1452357940,"variant_haplotypes":"rs11580409","gene":"ERICH3","drugs":"antidepressants","pmid":33230203,"phenotype_category":"Efficacy","significance":"yes","notes":"Meta-analysis combined samples from four independent antidepressant studies, STAR*D, ISPC, PReDICT and PGRN-AMPS. Treatment \u201cresponse\u201d was defined as a reduction of at least 50% in depression score as determined by use of the 17-item Hamilton Depression Rating Scale or the 16-item Quick Inventory of Depressive Symptomatology.; rating scale.","sentence":"Allele C is associated with increased response to antidepressants as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4220464","article_title":"Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins","article_path":"articles/PMC4220464.md","variant_annotation_id":1184997409,"variant_haplotypes":"rs445925","gene":null,"drugs":"hmg coa reductase inhibitors","pmid":25350695,"phenotype_category":"Efficacy","significance":"yes","notes":"Carriers of the rs445925 A SNP respond to statins with an additional 4.3% increase per allele in LDL-C lowering effect compared with non-carriers.","sentence":"Allele A is associated with increased response to hmg coa reductase inhibitors as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2515139","article_title":"A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose","article_path":"articles/PMC2515139.md","variant_annotation_id":982032955,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":18535201,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele C is associated with decreased dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5468510","article_title":"A polymorphism in the OPRM1 3\u2032 untranslated region is associated with methadone efficacy in treating opioid dependence","article_path":"articles/PMC5468510.md","variant_annotation_id":1448526016,"variant_haplotypes":"rs10485058","gene":"OPRM1","drugs":"methadone","pmid":27958381,"phenotype_category":"Efficacy","significance":"yes","notes":"Methadone patients with the AA genotype were less likely to have opioid-positive urine drug screens as compared to those with the AG and GG genotypes over 24 weeks. This SNP was not associated with response to buprenorphine treatment. A separate cohort of patients (CATS) was also analyzed; this cohort collected self-reported data on ever having had a relapse after a period of abstinence in opioid-dependent individuals. In this cohort, using an additive model, the A allele was found to be significantly associated with never having relapsed.","sentence":"Genotype AA is associated with increased response to methadone in people with Opioid-Related Disorders as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452435000,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele C is associated with increased clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038112,"variant_haplotypes":"rs613808","gene":"APOA1","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.","sentence":"Genotypes AA + AG are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163570,"variant_haplotypes":"rs4646437","gene":"CYP3A4","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients, this was one of the variants that passed validation in both populations. Direction of effect was not stated.","sentence":"Allele A is associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511064,"variant_haplotypes":"CYP3A7*1A, CYP3A7*1C","gene":"CYP3A7","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Diplotypes *1/*1, *1/*1C, *1C/*1C, did not influence donepezil clearance in a covariate model.","sentence":"CYP3A7 *1C/*1C is not associated with clearance of donepezil in people with Alzheimer Disease as compared to CYP3A7 *1A/*1A.","alleles":"*1C/*1C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1A/*1A","comparison_metabolizer_types":null} +{"pmcid":"PMC9536193","article_title":"Germline Polymorphisms as Biomarkers of Tumor Response in Colorectal Cancer Patients Treated with Anti-EGFR Monoclonal Antibodies: A Systematic Review and Meta-Analysis","article_path":"articles/PMC9536193.md","variant_annotation_id":1449165351,"variant_haplotypes":"rs4444903","gene":"EGF","drugs":"cetuximab, panitumumab","pmid":27897268,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis with 6 studies. This association was not significant after multiple testing correction. The authors did not provide the exact number of patients but stated that \"the median number of patients per analysis was 110 (range 50 - 740)\". Most definitions of response were variations of the RECIST criteria.","sentence":"Allele G is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5510236","article_title":"The Effects of Inherited NUDT15 Polymorphisms on Thiopurine Active Metabolites in Japanese Children with Acute Lymphoblastic Leukemia","article_path":"articles/PMC5510236.md","variant_annotation_id":1448624581,"variant_haplotypes":"NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*5","gene":"NUDT15","drugs":"mercaptopurine","pmid":28445187,"phenotype_category":"Toxicity","significance":"yes","notes":"The mean mercaptopurine (MP) dosages were 48.0 \u00b1 21.2, 34.1 \u00b1 17.0, and 3.2 \u00b1 1.2 mg/m2 for the normal-activity (*1/*1 n=44), intermediate-activity (*1/*2 + *1/*3 + *1/*5 n=10), and low-activity (*2/*3 n=1) NUDT15 groups, respectively (P = 4.8\u00d710-4). TGN (thioguanine nucleotides, not further specified) levels was correlated negatively with the number of NUDT15 risk alleles (P=5.3\u00d710-6) and this association remained significant after adjusting for MP dosage (P = 1.7 \u00d7 10 - 6).","sentence":"NUDT15 *1/*2 + *1/*3 + *1/*5 are associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to NUDT15 *1/*1.","alleles":"*1/*2 + *1/*3 + *1/*5","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983260,"variant_haplotypes":"rs766127","gene":"MTRF1L","drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here (G). Remission considered to be score < or equal to 7 at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele G is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC1885108","article_title":"Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes","article_path":"articles/PMC1885108.md","variant_annotation_id":982043191,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"pravastatin","pmid":16722833,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association was found between PK parameters and this SNP.","sentence":"Allele C is not associated with metabolism of pravastatin in children with Hyperlipoproteinemia Type II as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Hyperlipoproteinemia Type II","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5945500","article_title":"Correlation of MDR1 gene polymorphism with propofol combined with remifentanil anesthesia in pediatric tonsillectomy","article_path":"articles/PMC5945500.md","variant_annotation_id":1449311630,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"propofol, remifentanil","pmid":29755652,"phenotype_category":"Efficacy","significance":"no","notes":"Referred to as 2677 G>T/A Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to propofol and remifentanil in children as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1448613514,"variant_haplotypes":"rs4148323","gene":"UGT1A1","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with normalized dose when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together.","sentence":"Allele G is not associated with dose of selumetinib in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC9468554","article_title":"Impact of the novel CYP2C:TG haplotype and CYP2B6 variants on sertraline exposure in a large patient population","article_path":"articles/PMC9468554.md","variant_annotation_id":1452014720,"variant_haplotypes":"CYP2B6*1, CYP2B6*4","gene":"CYP2B6","drugs":"sertraline","pmid":35668575,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Compared with the reference group (CYP2B6*1/*1, n = 454), patients carrying the CYP2B6*4 allele had a 17.4% (n = 37, p = 0.022) reduced serum concentration of sertraline.","sentence":"CYP2B6 *1/*4 + *4/*4 are associated with decreased concentrations of sertraline as compared to CYP2B6 *1/*1.","alleles":"*1/*4 + *4/*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4034115","article_title":"Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders","article_path":"articles/PMC4034115.md","variant_annotation_id":1184510536,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"methylphenidate","pmid":23856854,"phenotype_category":"Efficacy","significance":"yes","notes":"Positive response defined as Clinical Global Impression-Improvement (CGI-I) rating of 'much improved' or 'very much improved', and decrease in Aberrant Behavior Checklist-Hyperactivity subscale of >25% from baseline. This result was not significant when considering correction for multiple testing (p<0.002).","sentence":"Genotypes AA + AG is associated with increased response to methylphenidate in children with Autism Spectrum Disorder as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Autism Spectrum Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} +{"pmcid":"PMC7499297","article_title":"Bisoprolol responses (PK/PD) in hypertensive patients: A cytochrome P450 (CYP) 2D6 targeted polymorphism study","article_path":"articles/PMC7499297.md","variant_annotation_id":1452507420,"variant_haplotypes":"rs1080985","gene":"CYP2D6","drugs":"bisoprolol","pmid":32994732,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The plasma concentrations of Bisoprolol in CC carriers were significantly lower than GG and CC carriers by 25%, and 51% respectively. Higher systolic and diastolic blood pressure was also observed in CC carriers than GG and CC carriers so there is a window to increase the dose for these patients. The average systolic blood pressure in CC carriers was 139.8 mmHg compared to 128.8 mmHg in GG carriers and 121.5 mmHg in GC carries. Similarly, the average diastolic blood pressure in CC carriers was 79.9 mmHg compared to 73.6 mmHg in GG carriers and 73.7 mmHg in CC carriers.\"","sentence":"Genotype CC is associated with decreased concentrations of bisoprolol in people with Cardiovascular Diseases as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157145,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"buprenorphine","pmid":23612435,"phenotype_category":"Efficacy","significance":"yes","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment. Patients with the CC genotype had significantly more positive drug screens during 24 weeks of treatment than the combined group of patients with the CT or TT genotypes.","sentence":"Genotype CC is associated with decreased response to buprenorphine in people with Opioid-Related Disorders as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC4385537","article_title":"Interferon-\u03bb3 polymorphisms in pegylated-interferon-\u03b1 plus ribavirin therapy for genotype-2 chronic hepatitis C","article_path":"articles/PMC4385537.md","variant_annotation_id":1447676959,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":25852275,"phenotype_category":"Efficacy","significance":"yes","notes":"for chronically HCV G2-infected patients who did not achieve rapid virologic response (non-RVR). This variant is not associated SVR for patients infected with genotype-2 chronic hepatitis C and have achieved RVR.","sentence":"Genotype TT is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183632042,"variant_haplotypes":"rs238","gene":null,"drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"yes","notes":"The association was significant in PEAR + GERA, but not in NORDIL (in which the effect was opposite, though small) or in the 3-study meta-analysis. Observations: 3.11 mm Hg decrease in reduction of systolic blood pressure per A allele in PEAR + GERA, 0.45 mm Hg greater reduction in systolic blood pressure per A allele in NORDIL and 2.22 mm Hg decrease in reduction of systolic blood pressure per A allele in PEAR + GERA + NORDIL.","sentence":"Allele A is associated with decreased response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2911553","article_title":"CYP4F2 rs2108622: a minor significant genetic factor of warfarin dose in Han Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC2911553.md","variant_annotation_id":981483998,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":20653676,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"2.1 mg/day vs 2.9 mg/day","sentence":"CYP2C9 *1/*3 + *3/*3 is associated with decreased dose of warfarin in people with mechanical heart valve replacement as compared to CYP2C9 *1/*1.","alleles":"*1/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:mechanical heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} +{"pmcid":"PMC4631184","article_title":"In vivo assessment of the metabolic activity of CYP2D6 diplotypes and alleles","article_path":"articles/PMC4631184.md","variant_annotation_id":1444705743,"variant_haplotypes":"CYP2D6 intermediate metabolizers","gene":"CYP2D6","drugs":"tamoxifen","pmid":25907378,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"EMs were treated with 20mg/day tamoxifen, while IMs and PMs were treated with 40mg/day. Doubling the dose of tamoxifen resulted in similar endoxifen concentrations for EM/EM vs EM/PM and IM/IM concentration and a higher endoxifen concentration for EM/IM. Endoxifen concentration for IM/PM and PM/PM stayed significantly lower compared to EM/EM. The patients of the cohort (83% White, 15% Black) were genotype with AmpliChip CYP450 test. The variations used to define the star alleles are not reported. The diplotypes of the patients are not reported. The alleles found in the cohort are not explicit reported but graphic 3 shows *1, *2, *35, *9, *10, *17, *29, and *41. The study included UMs and PM but no CYP2D6 star allele is reported for those phenotypes. *1, *2, *35 are grouped as active alleles and any combination of these defines the extensive metabolizer. *9, *10, *17, *29, and *41 are grouped as reduced function alleles. The article subgroups the IMs into EM/IM, EM/PM, IM/IM, IM/PM.","sentence":"CYP2D6 intermediate metabolizer is associated with increased dose of tamoxifen in women Breast Neoplasms as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} +{"pmcid":"PMC6714673","article_title":"Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients","article_path":"articles/PMC6714673.md","variant_annotation_id":1449251596,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":28049362,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699010,"variant_haplotypes":"rs498618","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses). Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679423,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"omeprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in eradication rate of Helicobacter pylori (H. pylori) were seen between the two genotype groups.This was a meta-analysis and included 6 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received the antibiotics amoxicillin and clarithromycin as part of triple therapy.","sentence":"CYP2C19 *1/*2 + *1/*3 is not associated with response to omeprazole in people with Helicobacter Infections as compared to CYP2C19 *2/*2 + *2/*3 + *3/*3.","alleles":"*1/*2 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*2 + *2/*3 + *3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC3273458","article_title":"Deciphering the Interleukin 28B Variants That Better Predict Response to Pegylated Interferon-\u03b1 and Ribavirin Therapy in HCV/HIV-1 Coinfected Patients","article_path":"articles/PMC3273458.md","variant_annotation_id":1444705100,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2b, ribavirin","pmid":22328925,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C and HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection, Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC3310336","article_title":"Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness","article_path":"articles/PMC3310336.md","variant_annotation_id":769182345,"variant_haplotypes":"rs28399504","gene":"CYP2C19","drugs":"clopidogrel","pmid":21358751,"phenotype_category":"Other","significance":"no","notes":"This SNP modifies the UM phenotype of CYP2C19*17 to the PM allele CYP2C19*4B.","sentence":"Allele G is associated with decreased metabolism of clopidogrel in people with CYP2C19*17 (rs12248560 T) as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"PK:CYP2C19*17 (rs12248560 T)","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930669,"variant_haplotypes":"rs647041","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele T is not associated with exposure to nicotine in men as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} +{"pmcid":"PMC8673616","article_title":"Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences","article_path":"articles/PMC8673616.md","variant_annotation_id":1451679111,"variant_haplotypes":"rs73568641","gene":null,"drugs":"methadone","pmid":34910759,"phenotype_category":"Dosage","significance":"no","notes":"The C allele was associated with reduced dose of methadone in female patients. However, this was not significant. No association was found in male patients. The significance threshold was set at p<0.017. This SNP is described in the paper as an OPRM1 SNP.","sentence":"Allele C is associated with decreased dose of methadone in women with Opioid-Related Disorders as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC3652476","article_title":"Rheumatoid Arthritis Risk Allele PTPRC Is Also Associated With Response to Anti\u2013Tumor Necrosis Factor \u03b1 Therapy","article_path":"articles/PMC3652476.md","variant_annotation_id":827808153,"variant_haplotypes":"rs10919563","gene":"PTPRC","drugs":"adalimumab, etanercept, infliximab","pmid":20309874,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele G is associated with increased response to adalimumab, etanercept or infliximab in people with Arthritis, Rheumatoid as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC4448076","article_title":"MHC class I-related chain B gene polymorphism is associated with virological response to pegylated interferon plus ribavirin therapy in patients with chronic hepatitis C infection","article_path":"articles/PMC4448076.md","variant_annotation_id":1444843486,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":26075078,"phenotype_category":"Efficacy","significance":"yes","notes":"A multivariate logistic model showed that the IL28B major genotype (TT) was an independent factor contributing to SVR (OR, 7.14; 95% CI, 2.19-23.22; P=0.001).","sentence":"Genotype TT is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic and Hepatitis C, Chronic as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} +{"pmcid":"PMC4195667","article_title":"Personalized Tacrolimus Dose Requirement by CYP3A5 but Not ABCB1 or ACE Genotyping in Both Recipient and Donor after Pediatric Liver Transplantation","article_path":"articles/PMC4195667.md","variant_annotation_id":1185011784,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":25310192,"phenotype_category":"Dosage","significance":"yes","notes":"All liver transplant recipients were given tacrolimus 2-3 days post liver transplantation. Weight adjusted dose and concentration to dose ratio (C/D) were the primary outcomes. Dose and C/D were calculated based on measurements taken on day 3, 7 and 14 post-transplantation as well as the the 1st, 3rd, 6th and 12th month post-transplantation. Genotype CC is classified as a CYP3A5 non-expresser (*3/*3) and genotypes CT (*1/*3) + TT (*1/*1) are classified as CYP3A5 expressers. The mean tacrolimus dose of non-expressor donor/ non-expresser recipient pairs was lower as compared to all other donor/recipient combinations.","sentence":"Genotype CC is associated with decreased dose of tacrolimus in children with liver transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} +{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550247,"variant_haplotypes":"rs3808035","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele C is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} +{"pmcid":"PMC2686066","article_title":"Pharmacokinetic\u2013 pharmacodynamic analysis of the role of CYP2C19 genotypes in short-term rabeprazole-based triple therapy against Helicobacter pylori","article_path":"articles/PMC2686066.md","variant_annotation_id":1183624342,"variant_haplotypes":"CYP2C19*1","gene":"CYP2C19","drugs":"rabeprazole","pmid":19552744,"phenotype_category":"Efficacy","significance":"no","notes":"as compared to those with the *1/*2 or *1/*3 genotype, or those with the *2/*2 or *2/*3 genotype. No significant differences in eradication rate of Helicobacter pylori were seen between any of the genotype groups. Subjects were treated with rabeprazole for 7 days, and also received amoxicillin and clarithromycin.","sentence":"CYP2C19 *1/*1 is not associated with response to rabeprazole in people with Helicobacter Infections.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} +{"pmcid":"PMC7870766","article_title":"Brain/blood ratios of methadone and ABCB1 polymorphisms in methadone-related deaths","article_path":"articles/PMC7870766.md","variant_annotation_id":1451401880,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methadone","pmid":33454797,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Cases with the AA genotype had higher medulla/blood concentration ratios of methadone compared to the AG and GG genotypes. Please note that alleles have been complemented to the positive strand.","sentence":"Genotype AA is associated with increased concentrations of methadone as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} +{"pmcid":"PMC3523080","article_title":"PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients","article_path":"articles/PMC3523080.md","variant_annotation_id":1184512536,"variant_haplotypes":"rs12721616","gene":"NR1I2","drugs":"efavirenz","pmid":23173844,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Plasma levels of efavirenz were not statistically significantly different between the CC and TT genotypes of this SNP.","sentence":"Genotype CC is not associated with metabolism of efavirenz in people with HIV Infections as compared to genotype TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} +{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359581,"variant_haplotypes":"rs12666409","gene":"DDC","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of methadone in people with Heroin Dependence as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} +{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144194,"variant_haplotypes":"rs324899","gene":null,"drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC2767285","article_title":"Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population","article_path":"articles/PMC2767285.md","variant_annotation_id":981751120,"variant_haplotypes":"rs17183814","gene":"SCN2A","drugs":"carbamazepine, phenobarbital, phenytoin, valproic acid","pmid":19694741,"phenotype_category":"Efficacy","significance":"yes","notes":"p value was above significance level after correction for multiple testing. Authors note that association was found at the allele level but not at the genotype level, and that this may be due to a low number of AA individuals.","sentence":"Allele A is associated with resistance to carbamazepine, phenobarbital, phenytoin or valproic acid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC11755583","article_title":"ABCB1 Polymorphism Is Associated with Higher Carbamazepine Clearance in Children","article_path":"articles/PMC11755583.md","variant_annotation_id":1452827247,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"carbamazepine","pmid":39846525,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Alleles complemented. \"Our main finding was that the presence of the ABCB1 1236T-2677T-3435T haplotype was associated with an increased clearance of CBZ in children. \" \"rs1045642 (3435C>T)\"","sentence":"Allele A is associated with increased clearance of carbamazepine in children with Epilepsy as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} +{"pmcid":"PMC5492788","article_title":"Potential Role of Patients\u2019 CYP3A-Status in Clozapine Pharmacokinetics","article_path":"articles/PMC5492788.md","variant_annotation_id":1449146864,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"clozapine","pmid":28340122,"phenotype_category":"Dosage","significance":"yes","notes":"This was most pronounced in low CYP3A4 expressers (CYP3A4 was assessed by mRNA levels and grouped into low medium and high). The majority of patients were CYP3A5 non-expressers (*3/*3) and ten carried the *1 allele associated with expression of CYP3A5. Those with CYP3A5*1 and normal/high expression of CYP3A4 may require higher doses/be at greater risk of being underdosed.","sentence":"CYP3A5 *1/*3 is associated with decreased concentrations of clozapine in people with schizoaffective disorder or Schizophrenia as compared to CYP3A5 *3/*3.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizoaffective disorder, Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} +{"pmcid":"PMC9413960","article_title":"Factors Affecting the Metabolic Conversion of Ciprofloxacin and Exposure to Its Main Active Metabolites in Critically Ill Patients: Population Pharmacokinetic Analysis of Desethylene Ciprofloxacin","article_path":"articles/PMC9413960.md","variant_annotation_id":1451922360,"variant_haplotypes":"rs762551","gene":"CYP1A2","drugs":"ciprofloxacin","pmid":36015253,"phenotype_category":null,"significance":"not stated","notes":"as measured by increased metabolite elimination rate constant for carriers of variant alleles of CYP1A2 rs762551. Authors do not specify which allele is considered \"v\" and which is \"wt\", reference genomic sequence is C therefore treated \"wt\" as C.","sentence":"Genotypes AA + AC is associated with increased clearance of ciprofloxacin in people with Infectious disease as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} From c3cd2e29c7e3495700b902d822fd1c048ebeca96 Mon Sep 17 00:00:00 2001 From: Shlok Natarajan Date: Fri, 6 Jun 2025 11:11:42 -0700 Subject: [PATCH 2/2] chore: benchmark folder and updated readmes --- .gitignore | 1 + README.MD | 4 +- data/README.md | 8 +- data/benchmark/column_mapping.json | 27 + data/{ => benchmark}/test.jsonl | 0 data/{ => benchmark}/train.jsonl | 0 data/{ => benchmark}/val.jsonl | 0 docs/duplicate_pmids.md | 69 ++ pixi.lock | 1086 +++++++++++++++++++++++++++- pixi.toml | 1 + 10 files changed, 1190 insertions(+), 6 deletions(-) create mode 100644 data/benchmark/column_mapping.json rename data/{ => benchmark}/test.jsonl (100%) rename data/{ => benchmark}/train.jsonl (100%) rename data/{ => benchmark}/val.jsonl (100%) create mode 100644 docs/duplicate_pmids.md diff --git a/.gitignore b/.gitignore index be46693..9dd7b0d 100644 --- a/.gitignore +++ b/.gitignore @@ -24,6 +24,7 @@ data/variantAnnotations/ data/unique_pmcids.json data/pmid_list.json data/downloaded_pmcids.json +data/markdown *.zip *.tar.gz diff --git a/README.MD b/README.MD index 97f5c97..edfe044 100644 --- a/README.MD +++ b/README.MD @@ -28,11 +28,11 @@ This repository contains Python scripts for running and building a Pharmacogenom | | Convert the PMID to PMCID | ✅ | | | Update to use non-official pmid to pmcid (aaron's method) | | | | Fetch the content from the PMCID | ✅ | -| Benchmark | Create pairings of annotations to articles | | +| Benchmark | Create pairings of annotations to articles | ✅ | | | Create a niave score of number of matches | | | | Create group wise score | | | | Look into advanced scoring based on distance from truth per term | | -| Workflows | Integrate Aaron's current approach | | +| Workflows | Integrate Aaron's current approach | ✅ | | | Document on individual annotation meanings | | | | Delegate annotation groupings to team members | | | New Article Fetching | Replicate PharGKB current workflow | | diff --git a/data/README.md b/data/README.md index 659b32f..070e900 100644 --- a/data/README.md +++ b/data/README.md @@ -4,7 +4,7 @@ This directory contains the primary data files used by the AutoGKB project. ## Directory Structure -- **articles/** - Contains XML files of articles from PubMed Central (PMC), identified by their PMCID (e.g., PMC1234567.xml). These articles are used for text mining and information extraction. +- **articles/** - Contains markdown files of articles from PubMed Central (PMC), identified by their PMCID (e.g., PMC1234567.xml). These articles are used for text mining and information extraction. - **variantAnnotations/** - Contains clinical variant annotations and related data: - `var_drug_ann.tsv` - Variant-drug annotations. This is what is used in this repo. @@ -14,4 +14,8 @@ This directory contains the primary data files used by the AutoGKB project. - `pmcid_mapping.json` - Maps between PMIDs and PMCIDs - `unique_pmcids.json` - List of unique PMCIDs in the dataset - `pmid_list.json` - List of PMIDs in the dataset - - `downloaded_pmcids.json` - Tracking which PMCIDs have been downloaded \ No newline at end of file + - `downloaded_pmcids.json` - Tracking which PMCIDs have been downloaded + +- **benchmark** + - `train, test, and val.json` - splits that contain all the data in jsonl files + - `column_mapping.json1` - Maps the column headers from the original var_drug_ann.tsv to the keys in the benchmark jsonl files \ No newline at end of file diff --git a/data/benchmark/column_mapping.json b/data/benchmark/column_mapping.json new file mode 100644 index 0000000..5955d85 --- /dev/null +++ b/data/benchmark/column_mapping.json @@ -0,0 +1,27 @@ +{ + "pmcid": "pmcid", + "article_title": "article_title", + "article_path": "article_path", + "Variant Annotation ID": "variant_annotation_id", + "Variant/Haplotypes": "variant_haplotypes", + "Gene": "gene", + "Drug(s)": "drugs", + "PMID": "pmid", + "Phenotype Category": "phenotype_category", + "Significance": "significance", + "Notes": "notes", + "Sentence": "sentence", + "Alleles": "alleles", + "Specialty Population": "specialty_population", + "Metabolizer types": "metabolizer_types", + "isPlural": "is_plural", + "Is/Is Not associated": "is_is_not_associated", + "Direction of effect": "direction_of_effect", + "PD/PK terms": "pd_pk_terms", + "Multiple drugs And/or": "multiple_drugs_and_or", + "Population types": "population_types", + "Population Phenotypes or diseases": "population_phenotypes_or_diseases", + "Multiple phenotypes or diseases And/or": "multiple_phenotypes_or_diseases_and_or", + "Comparison Allele(s) or Genotype(s)": "comparison_alleles_or_genotypes", + "Comparison Metabolizer types": "comparison_metabolizer_types" +} \ No newline at end of file diff --git a/data/test.jsonl b/data/benchmark/test.jsonl similarity index 100% rename from data/test.jsonl rename to data/benchmark/test.jsonl diff --git a/data/train.jsonl b/data/benchmark/train.jsonl similarity index 100% rename from data/train.jsonl rename to data/benchmark/train.jsonl diff --git a/data/val.jsonl b/data/benchmark/val.jsonl similarity index 100% rename from data/val.jsonl rename to data/benchmark/val.jsonl diff --git a/docs/duplicate_pmids.md b/docs/duplicate_pmids.md new file mode 100644 index 0000000..03b5d85 --- /dev/null +++ b/docs/duplicate_pmids.md @@ -0,0 +1,69 @@ +# Duplicate PMIDs and Data Structure Explanation + +## Overview + +This document explains why there are fewer unique markdown file names than entries in `parsed_drug_annotations.jsonl` and clarifies the data structure regarding duplicate variant annotations. + +## Data Structure Summary + +| Data Source | Count | Description | +|-------------|-------|-------------| +| `var_drug_ann.tsv` | 12,474 entries | Original variant annotation entries | +| Unique PMIDs in original data | 4,262 | Unique research papers | +| Available markdown files | 1,432 | Papers with full text available | +| `parsed_drug_annotations.jsonl` | 4,516 entries | Annotations with paper content found | +| Unique PMIDs with paper content | ~1,431 | Unique papers that were successfully processed | + +## Why There Are "Duplicate" PMIDs + +### Multiple Variant Annotations Per Paper + +Many research papers study multiple genetic variants and their associations with drugs. Each variant gets its own annotation entry, even though they come from the same paper. + +**Example from PMID 39792745:** +- `rs2909451` in `DPP4` gene for sitagliptin efficacy +- `rs2285676` in `KCNJ11` gene for sitagliptin efficacy +- `rs163184` in `KCNQ1` gene for sitagliptin efficacy +- `rs4664443` in `DPP4` gene for sitagliptin efficacy +- `rs1799853` in `CYP2C9` gene for sitagliptin efficacy +- And several others... + +### Data Processing Approach + +The conversion process in `convert_to_jsonl.ipynb`: + +1. **Processes each annotation individually** - Each row in the TSV becomes one entry +2. **Adds paper content to each entry** - The full markdown content is attached to every variant annotation from the same paper +3. **Preserves granular annotations** - Each variant-drug association remains as a separate data point + +## Implications + +### Storage Efficiency +- The same paper content is duplicated across multiple entries +- On average, each paper has ~3-4 variant annotations +- This results in significant data duplication but preserves analytical granularity + +### Analysis Benefits +- Each variant annotation can be analyzed independently +- Full paper context is available for each genetic association +- Researchers can study variant-specific effects while having access to the complete source material + +### File Mapping +- 1,432 unique markdown files map to 4,516 annotation entries +- Not all PMIDs have corresponding markdown files (some papers may not have been successfully downloaded or processed) +- Only 4,516 out of 12,474 original annotations have paper content (36% success rate) + +## Data Integrity + +This structure is **intentional and correct**: +- ✅ Each variant annotation is treated as an independent data point +- ✅ Full paper context is preserved for each annotation +- ✅ Researchers can filter by specific variants, genes, or drugs while maintaining paper context +- ✅ The relationship between annotations and source papers is maintained via PMID + +## Usage Recommendations + +When analyzing this data: +- **For paper-level analysis**: Group by PMID to avoid counting papers multiple times +- **For variant-level analysis**: Use entries directly as each represents a unique genetic association +- **For summary statistics**: Be aware that paper counts and annotation counts are different metrics \ No newline at end of file diff --git a/pixi.lock b/pixi.lock index a9aa5a1..b38eac1 100644 --- a/pixi.lock +++ b/pixi.lock @@ -5,16 +5,39 @@ environments: - 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