ArticleNature genetics2026
Genomic analyses implicate hormonal and metabolic dysregulation in polycystic ovary syndrome.
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Article in Nature genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3citing papers in PubMed
–field-weighted citation impact
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Who cites it
3 citing papers in PubMed.
- Genetic risk for PCOS/PMOS is associated with hyperandrogenism but not irregular menses in adolescents and young adults.Journal of the Endocrine Society · 2026Article
- Distinct metabolomic profiles in lean and non-lean polyendocrine metabolic ovarian syndrome.Journal of assisted reproduction and genetics · 2026Article
- From polygenic risk to functional genomics: a framework for precision gynecological disease modeling.Nature communications · 2026Review
Corrections and comments
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Authors and funding
98 authors.
Loes M E Moolhuijsen *Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.
Jia Zhu *Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-8782-1818
Benjamin H Mullin *Department of Endocrinology & Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.ORCID http://orcid.org/0000-0003-0743-770X
Natàlia Pujol-GualdoEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0001-6428-8427
Ky'Era V ActkinsDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0002-1591-6914
Jasmine A MackDepartment of Biostatistics, University of Michigan, Ann Arbor, MI, USA.
Hridya RaoDepartment of Population Health Sciences, Geisinger, Danville, PA, USA.ORCID http://orcid.org/0000-0003-3532-3435
Bhavi TrivediBlizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Katherine A KentistouMRC Epidemiology Unit, Institute of Metabolic Science, School of Clinical Medicine, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0002-5816-664X
Yajie ZhaoMRC Epidemiology Unit, Institute of Metabolic Science, School of Clinical Medicine, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0002-2747-0219
David WestergaardTranslational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0003-0128-8432
Jaakko S TyrmiCenter for Child, Adolescent and Maternal Health Research, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Gudmar ThorleifssondeCODE genetics/Amgen, Reykjavik, Iceland.ORCID http://orcid.org/0000-0003-4623-9087
Yanfei ZhangDepartment of Population Health Sciences, Geisinger, Danville, PA, USA.
Laura WittemansThe Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Amber DeVriesCenter for Bioinformatics & Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0002-1529-7930
Kelly BrewerDivision of Endocrinology, Diabetes and Bone Disease, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.
Ryan SiskDivision of Cardiology, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.ORCID http://orcid.org/0000-0002-7315-9472
Rebecca DanningBrigham and Women's Hospital, Boston, MA, USA.
Michael H PreussThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.ORCID http://orcid.org/0000-0001-5266-8465
Michelle R JonesCenter for Bioinformatics & Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0001-5466-3844
Katherine S RuthDepartment of Clinical and Biomedical Science, University of Exeter, Exeter, UK.ORCID http://orcid.org/0000-0003-4966-9170
Marianne AndersenOdense University Hospital, University of Southern Denmark, Odense, Denmark.ORCID http://orcid.org/0000-0002-4603-9504
Ricardo AzzizObstetrics & Gynecology, Medicine, and Healthcare Organization & Policy, Schools of Medicine and Public Health, University of Alabama at Birmingham, Birmingham, AL, USA.
Karina BanasikTranslational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0003-2489-2499
Michael BoehnkeCenter for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0002-6442-7754
Linda BroerDepartment of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0003-0011-123X
Søren BrunakTranslational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0003-0316-5866
Yee-Ming ChanDivision of Endocrinology, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-0554-8502
Daniel I ChasmanBrigham and Women's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-3357-0862
Mark DalyBroad Institute of MIT and Harvard and Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
David A EhrmannDepartment of Medicine, Section of Adult and Paediatric Endocrinology, Diabetes, and Metabolism, The University of Chicago, Chicago, IL, USA.
Bart C FauserDepartment of Reproductive Medicine and Gynaecology, University of Utrecht & University Medical Center, Utrecht, the Netherlands.
Lars G FritscheCenter for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0002-2110-1690
M Geoffrey HayesDivision of Endocrinology, Metabolism, and Molecular Medicine, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.ORCID http://orcid.org/0000-0002-4617-3981
Chunyan HeHarvard Medical School, Boston, MA, USA.
Hongyan HuangDepartments of Epidemiology and Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Irina KowalskaDepartment of Internal Medicine and Metabolic Diseases, Medical University of Białystok, Białystok, Poland.
Peter KraftDepartments of Epidemiology and Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Richard S LegroDepartment of Obstetrics and Gynecology and Public Health Sciences, Penn State University College of Medicine, Hershey, PA, USA.ORCID http://orcid.org/0000-0001-9927-7584
Nan LinHarvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-7731-0072
Ruth J LoosThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.ORCID http://orcid.org/0000-0002-8532-5087
Yvonne V LouwersDivision of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0002-9048-7398
Reedik MagiEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0002-2964-6011
Mark I McCarthyOxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-4393-0510
Laure Morin-PapunenResearch Unit of Clinical Medicine, University of Oulu, Oulu, Finland.
Jean V MorrisonDepartment of Human Genetics, University of Chicago, Chicago, IL, USA.ORCID http://orcid.org/0000-0003-4829-8283
Cynthia MortonProgram in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-2198-6756
Girish N NadkarniIcahn School of Medicine at Mount Sinai, New York City, NY, USA.ORCID http://orcid.org/0000-0001-6319-4314
Benjamin M NealeStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Henriette Svarre NielsenDepartment Obstetrics and Gynecology, Copenhagen University Hospital Hvidovre, Hvidovre, Denmark.ORCID http://orcid.org/0000-0003-2106-8103
Mette NyegaardDepartment of Health Science and Technology, Aalborg University, Gistrup, Denmark.ORCID http://orcid.org/0000-0003-4973-8543
Sisse R OstrowskiInstitute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0001-5288-3851
Ole B V PedersenDepartment of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0003-2312-5976
Erik SørensenDepartment of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0002-5002-9077
Christina MikkelsenDepartment of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0002-2945-6197
Christian ErikstrupDepartment of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.ORCID http://orcid.org/0000-0001-6551-6647
Kathrine A KaspersenDepartment of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-7973-3623
Mie T BruunClinical Immunology Research Unit, Department of Clinical Immunology, Odense University Hospital, Odense, Denmark.ORCID http://orcid.org/0000-0002-8819-5388
Bitten AagaardDepartment of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark.ORCID http://orcid.org/0000-0001-8306-1332
Henrik UllumStatens Serum Institut, Copenhagen, Denmark.
Barbara Obermayer-PietschDivision of Endocrinology and Diabetology, Department of Internal Medicine, Medical University of Graz, Graz, Austria.ORCID http://orcid.org/0000-0003-3543-1807
Aarno PalotieInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-2527-5874
Mary P ReeveInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.
Andres SalumetsCompetence Centre on Health Technologies, Tartu, Estonia.ORCID http://orcid.org/0000-0002-1251-8160
Richa SaxenaBroad Institute of MIT and Harvard and Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Timothy D SpectorDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.ORCID http://orcid.org/0000-0002-9795-0365
Bronwyn G A StuckeyDepartment of Endocrinology & Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.ORCID http://orcid.org/0000-0002-9109-9864
Unnur ThorsteinsdottirdeCODE genetics/Amgen, Reykjavik, Iceland.
André G UitterlindenDepartment of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0002-7276-3387
Margrit UrbanekDivision of Endocrinology, Metabolism, and Molecular Medicine, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.ORCID http://orcid.org/0000-0001-6994-7110
Sebastian ZöllnerDepartment of Biostatistics and Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0001-7362-156X
Genes and Health Research Team
DBDS Genomic Consortium
23andMe Research Team
David A van HeelBlizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0002-0637-2265
Joel N HirschhornDivision of Endocrinology, Boston Children's Hospital, Boston, MA, USA.
Kari StefanssondeCODE genetics/Amgen, Reykjavik, Iceland.
John R B PerryMRC Epidemiology Unit, Institute of Metabolic Science, School of Clinical Medicine, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-6483-3771
Unnur StyrkarsdottirdeCODE genetics/Amgen, Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-8146-8278
Scott G WilsonDepartment of Endocrinology & Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.ORCID http://orcid.org/0000-0002-0357-1373
Terhi PiltonenDepartment of Obstetrics and Gynecology, Research Unit of Clinical Medicine, Medical Research Centre, Oulu University Hospital, University of Oulu, Oulu, Finland.ORCID http://orcid.org/0000-0002-9921-7300
Triin LaiskEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0003-1501-9030
Marjo-Riitta JarvelinDepartment of Obstetrics and Gynecology, Research Unit of Clinical Medicine, Medical Research Centre, Oulu University Hospital, University of Oulu, Oulu, Finland.ORCID http://orcid.org/0000-0002-2149-0630
Kharis BurnsKeogh Institute for Medical Research, Nedlands, Western Australia, Australia.
Anne E JusticeDepartment of Population Health Sciences, Geisinger, Danville, PA, USA.ORCID http://orcid.org/0000-0002-8903-8712
Hannele LaivuoriCenter for Child, Adolescent and Maternal Health Research, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.ORCID http://orcid.org/0000-0003-3212-7826
Ken K OngMRC Epidemiology Unit, Institute of Metabolic Science, School of Clinical Medicine, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0003-4689-7530
Mark O GoodarziDivision of Endocrinology, Diabetes, and Metabolism, Cedars-Sinai Medical Center, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0001-6364-5103
Lea K DavisDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Andrea DunaifDivision of Endocrinology, Diabetes and Bone Disease, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.ORCID http://orcid.org/0000-0002-8175-4677
Cecilia M LindgrenThe Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-4903-9374
Joop S E LavenDivision of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0002-5444-9845
Stephen FranksInstitute of Reproductive & Developmental Biology, Department of Metabolism, Digestion & Reproduction, Imperial College London, London, UK.
Jenny A VisserDepartment of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0001-7182-3571
Corrine K Welt *Division of Endocrinology, Metabolism and Diabetes, University of Utah, Salt Lake City, UT, USA. cwelt@genetics.utah.edu.ORCID http://orcid.org/0000-0002-8219-5504
Tugce Karaderi *Translational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. tugce.karaderi@sund.ku.dk.
Felix R Day *MRC Epidemiology Unit, Institute of Metabolic Science, School of Clinical Medicine, University of Cambridge, Cambridge, UK. felix.day@mrc-epid.cam.ac.uk.ORCID http://orcid.org/0000-0003-3789-7651
Funding
Regional Pilot And Feasibility Study Grants ProgramP30DK020572 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Scott Soleimanpour · 2013 to 2026
$24.3MThe Genetics of Polycystic Ovary SyndromR01HD065029 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI WELT, CORRINE K · 2010 to 2014
$1.7MGenetic Dissection of the Pathophysiology of Polycystic Ovary SyndromeK08HD110723 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Jia Zhu · 2023 to 2026
$672kNICHD NIH HHS K08 HD110723NICHD NIH HHS R01 HD065029NIDDK NIH HHS P30 DK020572
Abstract
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.
Indexed as
HormonesPolycystic Ovary SyndromeBody Mass IndexFemaleGenetic Predisposition to DiseaseGenetic Risk ScoreGenome-Wide Association StudyGenomicsHumansMalePolymorphism, Single NucleotideProteomicsTestosteroneHormonesTestosterone
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