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

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

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