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Genomic analyses implicate hormonal and metabolic dysregulation in polycystic ovary syndrome.

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Title: Genomic analyses implicate hormonal and metabolic dysregulation in polycystic ovary syndrome.
Authors: Moolhuijsen LME; Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Zhu J; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Mullin BH; Department of Endocrinology & Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.; School of Biomedical Sciences, University of Western Australia, Crawley, Western Australia, Australia., Pujol-Gualdo N; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.; Department of Obstetrics and Gynecology, Research Unit of Clinical Medicine, Medical Research Centre, Oulu University Hospital, University of Oulu, Oulu, Finland., Actkins KV; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA., Mack JA; Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.; Department of Obstetrics and Gynaecology, University of Cambridge, Cambridge, UK.; Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, USA., Rao H; Department of Population Health Sciences, Geisinger, Danville, PA, USA.; Department of Biobehavioral Health, Pennsylvania State University, University Park, PA, USA., Trivedi B; Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Kentistou KA; MRC Epidemiology Unit, Institute of Metabolic Science, School of Clinical Medicine, University of Cambridge, Cambridge, UK., Zhao Y; MRC Epidemiology Unit, Institute of Metabolic Science, School of Clinical Medicine, University of Cambridge, Cambridge, UK., Westergaard D; Translational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department Obstetrics and Gynecology, Copenhagen University Hospital Hvidovre, Hvidovre, Denmark., Tyrmi JS; Center for Child, Adolescent and Maternal Health Research, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.; Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland., Thorleifsson G; deCODE genetics/Amgen, Reykjavik, Iceland., Zhang Y; Department of Population Health Sciences, Geisinger, Danville, PA, USA.; Population Analytics and Insights, Data Science and Digital Health, Janssen R&D, Springhouse, PA, USA., Wittemans L; The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., DeVries A; Center for Bioinformatics & Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Brewer K; Division of Endocrinology, Diabetes and Bone Disease, Icahn School of Medicine at Mount Sinai, New York City, NY, USA., Sisk R; Division of Cardiology, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Danning R; Brigham and Women's Hospital, Boston, MA, USA., Preuss MH; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York City, NY, USA., Jones MR; Center for Bioinformatics & Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Ruth KS; Department of Clinical and Biomedical Science, University of Exeter, Exeter, UK., Andersen M; Odense University Hospital, University of Southern Denmark, Odense, Denmark., Azziz R; Obstetrics & Gynecology, Medicine, and Healthcare Organization & Policy, Schools of Medicine and Public Health, University of Alabama at Birmingham, Birmingham, AL, USA., Banasik K; Translational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department Obstetrics and Gynecology, Copenhagen University Hospital Hvidovre, Hvidovre, Denmark., Boehnke M; Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA., Broer L; Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Brunak S; Translational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department of Public Health, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Chan YM; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Chasman DI; Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Daly M; Broad Institute of MIT and Harvard and Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Ehrmann DA; Department of Medicine, Section of Adult and Paediatric Endocrinology, Diabetes, and Metabolism, The University of Chicago, Chicago, IL, USA., Fauser BC; Department of Reproductive Medicine and Gynaecology, University of Utrecht & University Medical Center, Utrecht, the Netherlands., Fritsche LG; Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA., Hayes MG; Division of Endocrinology, Metabolism, and Molecular Medicine, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Department of Anthropology, Northwestern University, Evanston, IL, USA.; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., He C; Harvard Medical School, Boston, MA, USA.; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA., Huang H; Departments of Epidemiology and Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA., Kowalska I; Department of Internal Medicine and Metabolic Diseases, Medical University of Białystok, Białystok, Poland., Kraft P; Departments of Epidemiology and Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA., Legro RS; Department of Obstetrics and Gynecology and Public Health Sciences, Penn State University College of Medicine, Hershey, PA, USA., Lin N; Harvard Medical School, Boston, MA, USA.; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA., Loos RJ; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.; The Genetics of Obesity and Related Metabolic Traits Program, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.; The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medicine, University of Copenhagen, Copenhagen, Denmark., Louwers YV; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands., Magi R; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia., McCarthy MI; Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK.; Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford, UK., Morin-Papunen L; Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland., Morrison JV; Department of Human Genetics, University of Chicago, Chicago, IL, USA., Morton C; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; The Developmental Genome Anatomy Project, Brigham and Women's Hospital, Boston, MA, USA.; Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA, USA.; Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA., Nadkarni GN; Icahn School of Medicine at Mount Sinai, New York City, NY, USA., Neale BM; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Nielsen HS; Department Obstetrics and Gynecology, Copenhagen University Hospital Hvidovre, Hvidovre, Denmark.; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Nyegaard M; Department of Health Science and Technology, Aalborg University, Gistrup, Denmark., Ostrowski SR; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Pedersen OBV; Department of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Immunology, Zealand University Hospital, Køge, Denmark., Sørensen E; Department of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Mikkelsen C; Department of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Science, Copenhagen University, Copenhagen, Denmark., Erikstrup C; Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark., Kaspersen KA; Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.; Danish Big Data Centre for Environment and Health (BERTHA), Aarhus University, Aarhus, Denmark., Bruun MT; Clinical Immunology Research Unit, Department of Clinical Immunology, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Aagaard B; Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark., Ullum H; Statens Serum Institut, Copenhagen, Denmark., Obermayer-Pietsch B; Division of Endocrinology and Diabetology, Department of Internal Medicine, Medical University of Graz, Graz, Austria., Palotie A; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Reeve MP; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Salumets A; Competence Centre on Health Technologies, Tartu, Estonia.; Department of Obstetrics and Gynecology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Division of Obstetrics and Gynecology, Department of Clinical Science, Intervention and Technology, Karolinska Institutet and Karolinska University Hospital, Huddinge, Stockholm, Sweden., Saxena R; Broad Institute of MIT and Harvard and Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Spector TD; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK., Stuckey BGA; Department of Endocrinology & Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.; Medical School, University of Western Australia, Crawley, Western Australia, Australia.; Keogh Institute for Medical Research, Nedlands, Western Australia, Australia., Thorsteinsdottir U; deCODE genetics/Amgen, Reykjavik, Iceland.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland., Uitterlinden AG; Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands., Urbanek M; Division of Endocrinology, Metabolism, and Molecular Medicine, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Zöllner S; Department of Biostatistics and Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., van Heel DA; Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Hirschhorn JN; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Programs in Metabolism and Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Genetics, Harvard Medical School, Boston, MA, USA., Stefansson K; deCODE genetics/Amgen, Reykjavik, Iceland.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland., Perry JRB; MRC Epidemiology Unit, Institute of Metabolic Science, School of Clinical Medicine, University of Cambridge, Cambridge, UK.; Metabolic Research Laboratory, Wellcome-MRC Institute of Metabolic Science, School of Clinical Medicine, University of Cambridge, Cambridge, UK., Styrkarsdottir U; deCODE genetics/Amgen, Reykjavik, Iceland., Wilson SG; Department of Endocrinology & Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.; School of Biomedical Sciences, University of Western Australia, Crawley, Western Australia, Australia.; Medical School, University of Western Australia, Crawley, Western Australia, Australia., Piltonen T; Department of Obstetrics and Gynecology, Research Unit of Clinical Medicine, Medical Research Centre, Oulu University Hospital, University of Oulu, Oulu, Finland., Laisk T; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia., Jarvelin MR; Department of Obstetrics and Gynecology, Research Unit of Clinical Medicine, Medical Research Centre, Oulu University Hospital, University of Oulu, Oulu, Finland.; Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland.; MRC Centre for Environment and Health, Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.; Research Unit of Population Health, Faculty of Medicine, University of Oulu, Oulu, Finland., Burns K; Keogh Institute for Medical Research, Nedlands, Western Australia, Australia.; Department of Endocrinology and Diabetes, Royal Perth Hospital, Perth, Western Australia, Australia., Justice AE; Department of Population Health Sciences, Geisinger, Danville, PA, USA., Laivuori H; Center for Child, Adolescent and Maternal Health Research, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.; Department of Obstetrics and Gynecology, Tampere University Hospital, The Wellbeing Services County of Pirkanmaa, Tampere, Finland.; Medical and Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Ong KK; MRC Epidemiology Unit, Institute of Metabolic Science, School of Clinical Medicine, University of Cambridge, Cambridge, UK.; Department of Paediatrics, University of Cambridge, Cambridge, UK., Goodarzi MO; Division of Endocrinology, Diabetes, and Metabolism, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Davis LK; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA., Dunaif A; Division of Endocrinology, Diabetes and Bone Disease, Icahn School of Medicine at Mount Sinai, New York City, NY, USA., Lindgren CM; The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.; Broad Institute of MIT and Harvard and Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, Nuffield Department of Medicine, University of Oxford, Oxford, UK., Laven JSE; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands., Franks S; Institute of Reproductive & Developmental Biology, Department of Metabolism, Digestion & Reproduction, Imperial College London, London, UK., Visser JA; Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Welt CK; Division of Endocrinology, Metabolism and Diabetes, University of Utah, Salt Lake City, UT, USA. cwelt@genetics.utah.edu., Karaderi T; 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.; Center for Health Data Science, Faculty of Medical and Health Sciences, University of Copenhagen, Copenhagen, Denmark. tugce.karaderi@sund.ku.dk., Day FR; MRC Epidemiology Unit, Institute of Metabolic Science, School of Clinical Medicine, University of Cambridge, Cambridge, UK. felix.day@mrc-epid.cam.ac.uk.
Corporate Authors: Genes and Health Research Team, DBDS Genomic Consortium, 23andMe Research Team
Source: Nature genetics [Nat Genet] 2026 May; Vol. 58 (5), pp. 1040-1050. Date of Electronic Publication: 2026 Apr 23.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Genomic analyses implicate hormonal and metabolic dysregulation in polycystic ovary syndrome.
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  Label: Authors
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  Data: <searchLink fieldCode="AU" term="%22Moolhuijsen+LME%22">Moolhuijsen LME</searchLink>; Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Zhu+J%22">Zhu J</searchLink>; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Mullin+BH%22">Mullin BH</searchLink>; Department of Endocrinology & Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.; School of Biomedical Sciences, University of Western Australia, Crawley, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Pujol-Gualdo+N%22">Pujol-Gualdo N</searchLink>; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.; Department of Obstetrics and Gynecology, Research Unit of Clinical Medicine, Medical Research Centre, Oulu University Hospital, University of Oulu, Oulu, Finland.<br /><searchLink fieldCode="AU" term="%22Actkins+KV%22">Actkins KV</searchLink>; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Mack+JA%22">Mack JA</searchLink>; Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.; Department of Obstetrics and Gynaecology, University of Cambridge, Cambridge, UK.; Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, USA.<br /><searchLink fieldCode="AU" term="%22Rao+H%22">Rao H</searchLink>; Department of Population Health Sciences, Geisinger, Danville, PA, USA.; Department of Biobehavioral Health, Pennsylvania State University, University Park, PA, USA.<br /><searchLink fieldCode="AU" term="%22Trivedi+B%22">Trivedi B</searchLink>; Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Kentistou+KA%22">Kentistou KA</searchLink>; MRC Epidemiology Unit, Institute of Metabolic Science, School of Clinical Medicine, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Zhao+Y%22">Zhao Y</searchLink>; MRC Epidemiology Unit, Institute of Metabolic Science, School of Clinical Medicine, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Westergaard+D%22">Westergaard D</searchLink>; Translational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department Obstetrics and Gynecology, Copenhagen University Hospital Hvidovre, Hvidovre, Denmark.<br /><searchLink fieldCode="AU" term="%22Tyrmi+JS%22">Tyrmi JS</searchLink>; Center for Child, Adolescent and Maternal Health Research, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.; Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland.<br /><searchLink fieldCode="AU" term="%22Thorleifsson+G%22">Thorleifsson G</searchLink>; deCODE genetics/Amgen, Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Zhang+Y%22">Zhang Y</searchLink>; Department of Population Health Sciences, Geisinger, Danville, PA, USA.; Population Analytics and Insights, Data Science and Digital Health, Janssen R&D, Springhouse, PA, USA.<br /><searchLink fieldCode="AU" term="%22Wittemans+L%22">Wittemans L</searchLink>; The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22DeVries+A%22">DeVries A</searchLink>; Center for Bioinformatics & Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Brewer+K%22">Brewer K</searchLink>; Division of Endocrinology, Diabetes and Bone Disease, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.<br /><searchLink fieldCode="AU" term="%22Sisk+R%22">Sisk R</searchLink>; Division of Cardiology, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Danning+R%22">Danning R</searchLink>; Brigham and Women's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Preuss+MH%22">Preuss MH</searchLink>; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.<br /><searchLink fieldCode="AU" term="%22Jones+MR%22">Jones MR</searchLink>; Center for Bioinformatics & Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Ruth+KS%22">Ruth KS</searchLink>; Department of Clinical and Biomedical Science, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Andersen+M%22">Andersen M</searchLink>; Odense University Hospital, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Azziz+R%22">Azziz R</searchLink>; Obstetrics & Gynecology, Medicine, and Healthcare Organization & Policy, Schools of Medicine and Public Health, University of Alabama at Birmingham, Birmingham, AL, USA.<br /><searchLink fieldCode="AU" term="%22Banasik+K%22">Banasik K</searchLink>; Translational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department Obstetrics and Gynecology, Copenhagen University Hospital Hvidovre, Hvidovre, Denmark.<br /><searchLink fieldCode="AU" term="%22Boehnke+M%22">Boehnke M</searchLink>; Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.<br /><searchLink fieldCode="AU" term="%22Broer+L%22">Broer L</searchLink>; Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Brunak+S%22">Brunak S</searchLink>; Translational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department of Public Health, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Chan+YM%22">Chan YM</searchLink>; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Chasman+DI%22">Chasman DI</searchLink>; Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Daly+M%22">Daly M</searchLink>; Broad Institute of MIT and Harvard and Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Ehrmann+DA%22">Ehrmann DA</searchLink>; Department of Medicine, Section of Adult and Paediatric Endocrinology, Diabetes, and Metabolism, The University of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Fauser+BC%22">Fauser BC</searchLink>; Department of Reproductive Medicine and Gynaecology, University of Utrecht & University Medical Center, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Fritsche+LG%22">Fritsche LG</searchLink>; Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.<br /><searchLink fieldCode="AU" term="%22Hayes+MG%22">Hayes MG</searchLink>; Division of Endocrinology, Metabolism, and Molecular Medicine, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Department of Anthropology, Northwestern University, Evanston, IL, USA.; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22He+C%22">He C</searchLink>; Harvard Medical School, Boston, MA, USA.; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Huang+H%22">Huang H</searchLink>; Departments of Epidemiology and Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Kowalska+I%22">Kowalska I</searchLink>; Department of Internal Medicine and Metabolic Diseases, Medical University of Białystok, Białystok, Poland.<br /><searchLink fieldCode="AU" term="%22Kraft+P%22">Kraft P</searchLink>; Departments of Epidemiology and Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Legro+RS%22">Legro RS</searchLink>; Department of Obstetrics and Gynecology and Public Health Sciences, Penn State University College of Medicine, Hershey, PA, USA.<br /><searchLink fieldCode="AU" term="%22Lin+N%22">Lin N</searchLink>; Harvard Medical School, Boston, MA, USA.; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Loos+RJ%22">Loos RJ</searchLink>; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.; The Genetics of Obesity and Related Metabolic Traits Program, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.; The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medicine, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Louwers+YV%22">Louwers YV</searchLink>; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Magi+R%22">Magi R</searchLink>; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22McCarthy+MI%22">McCarthy MI</searchLink>; Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK.; Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Morin-Papunen+L%22">Morin-Papunen L</searchLink>; Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland.<br /><searchLink fieldCode="AU" term="%22Morrison+JV%22">Morrison JV</searchLink>; Department of Human Genetics, University of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Morton+C%22">Morton C</searchLink>; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; The Developmental Genome Anatomy Project, Brigham and Women's Hospital, Boston, MA, USA.; Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA, USA.; Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Nadkarni+GN%22">Nadkarni GN</searchLink>; Icahn School of Medicine at Mount Sinai, New York City, NY, USA.<br /><searchLink fieldCode="AU" term="%22Neale+BM%22">Neale BM</searchLink>; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Nielsen+HS%22">Nielsen HS</searchLink>; Department Obstetrics and Gynecology, Copenhagen University Hospital Hvidovre, Hvidovre, Denmark.; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Nyegaard+M%22">Nyegaard M</searchLink>; Department of Health Science and Technology, Aalborg University, Gistrup, Denmark.<br /><searchLink fieldCode="AU" term="%22Ostrowski+SR%22">Ostrowski SR</searchLink>; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Pedersen+OBV%22">Pedersen OBV</searchLink>; Department of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Immunology, Zealand University Hospital, Køge, Denmark.<br /><searchLink fieldCode="AU" term="%22Sørensen+E%22">Sørensen E</searchLink>; Department of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Mikkelsen+C%22">Mikkelsen C</searchLink>; Department of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Science, Copenhagen University, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Erikstrup+C%22">Erikstrup C</searchLink>; Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Kaspersen+KA%22">Kaspersen KA</searchLink>; Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.; Danish Big Data Centre for Environment and Health (BERTHA), Aarhus University, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Bruun+MT%22">Bruun MT</searchLink>; Clinical Immunology Research Unit, Department of Clinical Immunology, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Aagaard+B%22">Aagaard B</searchLink>; Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark.<br /><searchLink fieldCode="AU" term="%22Ullum+H%22">Ullum H</searchLink>; Statens Serum Institut, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Obermayer-Pietsch+B%22">Obermayer-Pietsch B</searchLink>; Division of Endocrinology and Diabetology, Department of Internal Medicine, Medical University of Graz, Graz, Austria.<br /><searchLink fieldCode="AU" term="%22Palotie+A%22">Palotie A</searchLink>; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Reeve+MP%22">Reeve MP</searchLink>; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Salumets+A%22">Salumets A</searchLink>; Competence Centre on Health Technologies, Tartu, Estonia.; Department of Obstetrics and Gynecology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Division of Obstetrics and Gynecology, Department of Clinical Science, Intervention and Technology, Karolinska Institutet and Karolinska University Hospital, Huddinge, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Saxena+R%22">Saxena R</searchLink>; Broad Institute of MIT and Harvard and Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Spector+TD%22">Spector TD</searchLink>; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Stuckey+BGA%22">Stuckey BGA</searchLink>; Department of Endocrinology & Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.; Medical School, University of Western Australia, Crawley, Western Australia, Australia.; Keogh Institute for Medical Research, Nedlands, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Thorsteinsdottir+U%22">Thorsteinsdottir U</searchLink>; deCODE genetics/Amgen, Reykjavik, Iceland.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Uitterlinden+AG%22">Uitterlinden AG</searchLink>; Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Urbanek+M%22">Urbanek M</searchLink>; Division of Endocrinology, Metabolism, and Molecular Medicine, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Zöllner+S%22">Zöllner S</searchLink>; Department of Biostatistics and Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA.<br /><searchLink fieldCode="AU" term="%22van+Heel+DA%22">van Heel DA</searchLink>; Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Hirschhorn+JN%22">Hirschhorn JN</searchLink>; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Programs in Metabolism and Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Genetics, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Stefansson+K%22">Stefansson K</searchLink>; deCODE genetics/Amgen, Reykjavik, Iceland.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Perry+JRB%22">Perry JRB</searchLink>; MRC Epidemiology Unit, Institute of Metabolic Science, School of Clinical Medicine, University of Cambridge, Cambridge, UK.; Metabolic Research Laboratory, Wellcome-MRC Institute of Metabolic Science, School of Clinical Medicine, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Styrkarsdottir+U%22">Styrkarsdottir U</searchLink>; deCODE genetics/Amgen, Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Wilson+SG%22">Wilson SG</searchLink>; Department of Endocrinology & Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.; School of Biomedical Sciences, University of Western Australia, Crawley, Western Australia, Australia.; Medical School, University of Western Australia, Crawley, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Piltonen+T%22">Piltonen T</searchLink>; Department of Obstetrics and Gynecology, Research Unit of Clinical Medicine, Medical Research Centre, Oulu University Hospital, University of Oulu, Oulu, Finland.<br /><searchLink fieldCode="AU" term="%22Laisk+T%22">Laisk T</searchLink>; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22Jarvelin+MR%22">Jarvelin MR</searchLink>; Department of Obstetrics and Gynecology, Research Unit of Clinical Medicine, Medical Research Centre, Oulu University Hospital, University of Oulu, Oulu, Finland.; Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland.; MRC Centre for Environment and Health, Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.; Research Unit of Population Health, Faculty of Medicine, University of Oulu, Oulu, Finland.<br /><searchLink fieldCode="AU" term="%22Burns+K%22">Burns K</searchLink>; Keogh Institute for Medical Research, Nedlands, Western Australia, Australia.; Department of Endocrinology and Diabetes, Royal Perth Hospital, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Justice+AE%22">Justice AE</searchLink>; Department of Population Health Sciences, Geisinger, Danville, PA, USA.<br /><searchLink fieldCode="AU" term="%22Laivuori+H%22">Laivuori H</searchLink>; Center for Child, Adolescent and Maternal Health Research, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.; Department of Obstetrics and Gynecology, Tampere University Hospital, The Wellbeing Services County of Pirkanmaa, Tampere, Finland.; Medical and Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Ong+KK%22">Ong KK</searchLink>; MRC Epidemiology Unit, Institute of Metabolic Science, School of Clinical Medicine, University of Cambridge, Cambridge, UK.; Department of Paediatrics, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Goodarzi+MO%22">Goodarzi MO</searchLink>; Division of Endocrinology, Diabetes, and Metabolism, Cedars-Sinai Medical Center, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Davis+LK%22">Davis LK</searchLink>; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Dunaif+A%22">Dunaif A</searchLink>; Division of Endocrinology, Diabetes and Bone Disease, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.<br /><searchLink fieldCode="AU" term="%22Lindgren+CM%22">Lindgren CM</searchLink>; The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.; Broad Institute of MIT and Harvard and Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, Nuffield Department of Medicine, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Laven+JSE%22">Laven JSE</searchLink>; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Franks+S%22">Franks S</searchLink>; Institute of Reproductive & Developmental Biology, Department of Metabolism, Digestion & Reproduction, Imperial College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Visser+JA%22">Visser JA</searchLink>; Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Welt+CK%22">Welt CK</searchLink>; Division of Endocrinology, Metabolism and Diabetes, University of Utah, Salt Lake City, UT, USA. cwelt@genetics.utah.edu.<br /><searchLink fieldCode="AU" term="%22Karaderi+T%22">Karaderi T</searchLink>; 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.; Center for Health Data Science, Faculty of Medical and Health Sciences, University of Copenhagen, Copenhagen, Denmark. tugce.karaderi@sund.ku.dk.<br /><searchLink fieldCode="AU" term="%22Day+FR%22">Day FR</searchLink>; MRC Epidemiology Unit, Institute of Metabolic Science, School of Clinical Medicine, University of Cambridge, Cambridge, UK. felix.day@mrc-epid.cam.ac.uk.
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  Data: <searchLink fieldCode="JN" term="%229216904%22">Nature genetics</searchLink> [Nat Genet] 2026 May; Vol. 58 (5), pp. 1040-1050. <i>Date of Electronic Publication: </i>2026 Apr 23.
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          Name:
            NameFull: Goodarzi MO
      – PersonEntity:
          Name:
            NameFull: Davis LK
      – PersonEntity:
          Name:
            NameFull: Dunaif A
      – PersonEntity:
          Name:
            NameFull: Lindgren CM
      – PersonEntity:
          Name:
            NameFull: Laven JSE
      – PersonEntity:
          Name:
            NameFull: Franks S
      – PersonEntity:
          Name:
            NameFull: Visser JA
      – PersonEntity:
          Name:
            NameFull: Welt CK
      – PersonEntity:
          Name:
            NameFull: Karaderi T
      – PersonEntity:
          Name:
            NameFull: Day FR
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 05
              Text: 2026 May
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1546-1718
          Numbering:
            – Type: volume
              Value: 58
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: Nature genetics
              Type: main
ResultId 1