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Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome

Author

Listed:
  • Felix R. Day

    (MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Addenbrooke’s Hospital)

  • David A. Hinds

    (23andMe Inc.)

  • Joyce Y. Tung

    (23andMe Inc.)

  • Lisette Stolk

    (Erasmus MC)

  • Unnur Styrkarsdottir

    (deCODE Genetics/Amgen)

  • Richa Saxena

    (Massachusetts General Hospital)

  • Andrew Bjonnes

    (Massachusetts General Hospital)

  • Linda Broer

    (Erasmus MC)

  • David B. Dunger

    (University of Cambridge School of Clinical Medicine)

  • Bjarni V. Halldorsson

    (deCODE Genetics/Amgen
    Institute of Biomedical and Neural Engineering, School of Science and Engineering, Reykjavík University)

  • Debbie A. Lawlor

    (MRC Integrative Epidemiology Unit at the University of Bristol
    School of Social and Community Medicine, University of Bristol, Oakfield House)

  • Guillaume Laval

    (Human Evolutionary Genetics, CNRS URA3012 Institut Pasteur)

  • Iain Mathieson

    (Harvard Medical School)

  • Wendy L. McCardle

    (School of Social and Community Medicine, University of Bristol, Oakfield House)

  • Yvonne Louwers

    (Erasmus MC)

  • Cindy Meun

    (Erasmus MC)

  • Susan Ring

    (MRC Integrative Epidemiology Unit at the University of Bristol
    School of Social and Community Medicine, University of Bristol, Oakfield House)

  • Robert A. Scott

    (MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Addenbrooke’s Hospital)

  • Patrick Sulem

    (deCODE Genetics/Amgen)

  • André G. Uitterlinden

    (Erasmus MC)

  • Nicholas J. Wareham

    (MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Addenbrooke’s Hospital)

  • Unnur Thorsteinsdottir

    (deCODE Genetics/Amgen
    Faculty of Medicine, University of Iceland)

  • Corrine Welt

    (Metabolism and Diabetes, University of Utah School of Medicine)

  • Kari Stefansson

    (deCODE Genetics/Amgen
    Faculty of Medicine, University of Iceland)

  • Joop S. E. Laven

    (Erasmus MC)

  • Ken K. Ong

    (MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Addenbrooke’s Hospital
    University of Cambridge School of Clinical Medicine)

  • John R. B. Perry

    (MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Addenbrooke’s Hospital)

Abstract

Polycystic ovary syndrome (PCOS) is the most common reproductive disorder in women, yet there is little consensus regarding its aetiology. Here we perform a genome-wide association study of PCOS in up to 5,184 self-reported cases of White European ancestry and 82,759 controls, with follow-up in a further ∼2,000 clinically validated cases and ∼100,000 controls. We identify six signals for PCOS at genome-wide statistical significance (P

Suggested Citation

  • Felix R. Day & David A. Hinds & Joyce Y. Tung & Lisette Stolk & Unnur Styrkarsdottir & Richa Saxena & Andrew Bjonnes & Linda Broer & David B. Dunger & Bjarni V. Halldorsson & Debbie A. Lawlor & Guilla, 2015. "Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome," Nature Communications, Nature, vol. 6(1), pages 1-7, December.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms9464
    DOI: 10.1038/ncomms9464
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