Gene-IPI: Maternal genetics, interpregnancy interval, and pregnancy outcomes

This repository contains the reproducible code, workflows, and documentation for the thesis work:

"Can long pregnancy intervals reset the effect of maternal genes?"
Ágnes Judit Juhász, 2025
University of Skövde & Sahlgrenska Academy, University of Gothenburg

Supervisors: Pol Solé-Navais PhD, Karin Ytterberg

Project overview

Gestational duration is a critical determinant of neonatal survival and health. While genetic and environmental factors both contribute, their interaction remains under-explored.
This project investigates how interpregnancy interval (IPI) and a history of miscarriage may modify the effects of maternal genetic variants on gestational duration, using large-scale genomic and reproductive data.

Key research aims:

• Assess whether maternal genetic contributions to gestational duration differ across short, intermediate, and long interpregnancy intervals (IPI).
• Explore genome-wide gene–environment interactions (G×E) with IPI and miscarriage history.
• Functionally annotate candidate variants and loci (e.g., ATRNL1, DPYSL3) and investigate their enrichment in pathways linked to epigenetic regulation, uterine receptivity, and immune adaptation.

Data

• Cohort: Norwegian Mother, Father and Child Cohort Study (MoBa).
• Genotype data: MoBaGenetics release (hg19/GRCh37).
• Phenotypes: Linked registry data (Medical Birth Registry of Norway, MBRN).
  Due to data protection regulations, raw MoBa data cannot be shared in this repository.

Citation

If you use this repository or build upon its workflow, please cite:

Juhász AJ. (2025). Can long pregnancy intervals reset the effect of maternal genes? Master’s thesis. University of Skövde & Sahlgrenska Academy, University of Gothenburg.

License

This repository is released under the MIT License.
Note: MoBa data is not included and requires separate application for access.