Article
Genomic analyses implicate hormonal and metabolic dysregulation in polycystic ovary syndrome.
Nature genetics - 1 May 2026
Moolhuijsen Loes M E, Zhu Jia, Mullin Benjamin H, Pujol-Gualdo Natàlia, Actkins Ky'Era V, Mack Jasmine A, Rao Hridya, Trivedi Bhavi, Kentistou Katherine A, Zhao Yajie, Westergaard David, Tyrmi Jaakko S, Thorleifsson Gudmar, Zhang Yanfei, Wittemans Laura, DeVries Amber, Brewer Kelly, Sisk Ryan, Danning Rebecca, Preuss Michael H, Jones Michelle R, Ruth Katherine S, Andersen Marianne, Azziz Ricardo, Banasik Karina, Boehnke Michael, Broer Linda, Brunak Søren, Chan Yee-Ming, Chasman Daniel I, Daly Mark, Ehrmann David A, Fauser Bart C, Fritsche Lars G, Hayes M Geoffrey, He Chunyan, Huang Hongyan, Kowalska Irina, Kraft Peter, Legro Richard S, Lin Nan, Loos Ruth J, Louwers Yvonne V, Magi Reedik, McCarthy Mark I, Morin-Papunen Laure, Morrison Jean V, Morton Cynthia, Nadkarni Girish N, Neale Benjamin M, Nielsen Henriette Svarre, Nyegaard Mette, Ostrowski Sisse R, Pedersen Ole B V, Sørensen Erik, Mikkelsen Christina, Erikstrup Christian, Kaspersen Kathrine A, Bruun Mie T, Aagaard Bitten, Ullum Henrik, Obermayer-Pietsch Barbara, Palotie Aarno, Reeve Mary P, Salumets Andres, Saxena Richa, Spector Timothy D, Stuckey Bronwyn G A, Thorsteinsdottir Unnur, Uitterlinden André G, Urbanek Margrit, Zöllner Sebastian, van Heel David A, Hirschhorn Joel N, Stefansson Kari, Perry John R B, Styrkarsdottir Unnur, Wilson Scott G, Piltonen Terhi, Laisk Triin, Jarvelin Marjo-Riitta, Burns Kharis, Justice Anne E, Laivuori Hannele, Ong Ken K, Goodarzi Mark O, Davis Lea K, Dunaif Andrea, Lindgren Cecilia M, Laven Joop S E, Franks Stephen, Visser Jenny A, Welt Corrine K, Karaderi Tugce, Day Felix R
Abstract excerpt
Polycystic ovary syndrome (PCOS) and its underlying features remain poorly understood. In this genetic study (n = 544,513), we expand the number of genetic loci from 16 to 29, and additionally identify 31 associated plasma proteins. Many risk-increasing loci were associated with later age at menopause, underscoring the reproductive longevity related to an increased oocyte number and/or availability across the...
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