The paper identifies gene regulatory mechanisms in PCOS-associated loci, showing DENND1A-dependent testosterone elevation through experimental and genetic analyses.

bioRxiv · May 23, 2024 · PreprintGenomics

Genomic and proteomic evidence for hormonal and metabolic foundations of polycystic ovary syndrome

Loes M E Moolhuijsen, Jia Zhu, Benjamin H. Mullin, Natàlia Pujol‐Gualdo, Ky’Era V. Actkins, Jasmine A. Mack, Hridya Rao, Bhavi Trivedi, Katherine A. Kentistou, Yajie Zhao, David Westergard, Jaakko S. Tyrmi, Guðmar Þorleifsson, Yanfei Zhang, Laura B. L. Wittemans, , Felix R. Day

This study identifies 31 plasma proteins and expands genetic loci associated with PCOS, highlighting metabolic and hormonal influences and polygenic risk effects on cardio-metabolic outcomes.

medRxiv · Apr 18, 2024 · PreprintGenetic & Genomic Medicine

Loci on chromosome 12q13.2 encompassing ERBB3, PA2G4 and RAB5B are associated with polycystic ovary syndrome

Ronald Alan Harris, Kellie J. Archer, Mark O. Goodarzi, Timothy P. York, Jeffrey Rogers, Andrea Elizabeth Dunaif, Jan M. McAllister, Jerome F. Strauss

The paper identifies 15 SNPs associated with androgen production in theca cells and a haplotype on chromosome 12q13.2 linked to PCOS and AMH levels.

medRxiv · May 10, 2022 · PreprintGenetic & Genomic Medicine

Phenotypic clustering reveals distinct subtypes of polycystic ovary syndrome with novel genetic associations

Matthew Dapas, Frederick T. J. Lin, Girish N. Nadkarni, Ryan K. Sisk, Richard S. Legro, Margrit Urbanek, M. Geoffrey Hayes, Andrea Elizabeth Dunaif

This study identifies two stable subtypes of PCOS with distinct genetic associations through phenotypic clustering and GWAS.

PLoS Medicine · Jun 23, 2020Peer-reviewedGenomics

A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies

Yoonjung Yoonie Joo, Ky’Era V. Actkins, Jennifer A. Pacheco, Anna Okula Basile, Robert J. Carroll, David R. Crosslin, Felix R. Day, Joshua C. Denny, Digna R. Velez Edwards, Hakon H. Hakonarson, John B. Harley, Scott Joseph Hebbring, Kevin Ho, Gail Pairitz Jarvik, Michelle R. Jones, , Corrine Kolka Welt

This study develops a polygenic and phenotypic risk score for PCOS using EHR data, showing improved detection and identifying shared metabolic and endocrine comorbidities.

The Journal of Clinical Endocrinology & Metabolism · Jan 9, 2020Peer-reviewedBioinformatics

Family-based quantitative trait meta-analysis implicates rare noncoding variants in DENND1A in pathogenesis of polycystic ovary syndrome

Matthew Dapas, Ryan K. Sisk, Richard S. Legro, Margrit Urbanek, Andrea Elizabeth Dunaif, M. Geoffrey Hayes

This study identifies rare noncoding variants in DENND1A associated with PCOS traits through family-based whole-genome sequencing and quantitative trait meta-analysis.

The Journal of Clinical Endocrinology & Metabolism · Apr 30, 2019Peer-reviewedGenomics

Large-Scale Genome-Wide Meta Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria.

Felix R. Day, Tugce Karaderi, Michelle R. Jones, Cindy Meun, Chunyan He, Alex W. Drong, Peter Kraft, Nan Lin, Hongyan Huang, Linda Broer, Reedik Mägi, Richa Saxena, Triin Laisk, Margrit Urbanek, M. Geoffrey Hayes, , Corrine Kolka Welt

This study performs a large-scale genome-wide meta-analysis of PCOS cases and identifies genetic loci associated with PCOS and related traits, showing shared genetic architecture across different diagnostic criteria.

PLoS Genetics · Dec 19, 2018Peer-reviewedGenetics