Genomic analyses implicate hormonal and metabolic dysregulation in polycystic ovary syndrome.
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, Genes and Health Research Team, DBDS Genomic Consortium, 23andMe Research Team, 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
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Аннотация
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 lifespan. Hormonal regulation in the etiology of this condition, through metabolic and reproductive features, was emphasized. The proteomic analysis highlighted metabolic biology known to be related to PCOS. A polygenic risk score (PRS) was associated with adverse cardiometabolic outcomes, with differing relevance of testosterone and body mass index in women and men. Finally, while oligo-anovulation and anovulatory infertility are features of PCOS, we observed no impact of PCOS susceptibility on childlessness. We suggest that PCOS susceptibility confers balanced pleiotropic influences on fertility in women, and life-long adverse metabolic consequences in both sexes.
Для цитирования: 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, Genes and Health Research Team, DBDS Genomic Consortium, 23andMe Research Team, 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. Genomic analyses implicate hormonal and metabolic dysregulation in polycystic ovary syndrome.. Nature genetics. 2026. DOI: 10.1038/s41588-026-02543-9.
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