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Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations

Author

Listed:
  • M. Geoffrey Hayes

    (Metabolism, and Molecular Medicine, Northwestern University Feinberg School of Medicine
    Center for Genetic Medicine, Northwestern University Feinberg School of Medicine
    Northwestern University)

  • Margrit Urbanek

    (Metabolism, and Molecular Medicine, Northwestern University Feinberg School of Medicine
    Center for Genetic Medicine, Northwestern University Feinberg School of Medicine)

  • David A. Ehrmann

    (Section of Endocrinology, Diabetes, and Metabolism, The University of Chicago)

  • Loren L. Armstrong

    (Metabolism, and Molecular Medicine, Northwestern University Feinberg School of Medicine)

  • Ji Young Lee

    (Metabolism, and Molecular Medicine, Northwestern University Feinberg School of Medicine)

  • Ryan Sisk

    (Metabolism, and Molecular Medicine, Northwestern University Feinberg School of Medicine)

  • Tugce Karaderi

    (Wellcome Trust Centre for Human Genetics, University of Oxford)

  • Thomas M. Barber

    (Warwick Medical School, University of Warwick)

  • Mark I. McCarthy

    (Wellcome Trust Centre for Human Genetics, University of Oxford
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford
    Oxford NIHR Biomedical Research Centre, Churchill Hospital)

  • Stephen Franks

    (Institute of Reproductive & Developmental Biology, Hammersmith Hospital, Imperial College London)

  • Cecilia M. Lindgren

    (Wellcome Trust Centre for Human Genetics, University of Oxford
    Program in Medical and Population Genetics, Broad Institute of Harvard and MIT)

  • Corrine K. Welt

    (Metabolism and Diabetes, University of Utah)

  • Evanthia Diamanti-Kandarakis

    (Endocrinology and Metabolism, University of Athens Medical School)

  • Dimitrios Panidis

    (Aristotle University of Thessaloniki)

  • Mark O. Goodarzi

    (Diabetes and Metabolism, Cedars-Sinai Medical Center)

  • Ricardo Azziz

    (Medical College of Georgia, Georgia Regents University)

  • Yi Zhang

    (TOPS Obesity and Metabolic Research Center, Medical College of Wisconsin
    Human and Molecular Genetics Center, Medical College of Wisconsin)

  • Roland G. James

    (TOPS Obesity and Metabolic Research Center, Medical College of Wisconsin
    Human and Molecular Genetics Center, Medical College of Wisconsin)

  • Michael Olivier

    (Texas Biomedical Research Institute)

  • Ahmed H. Kissebah

    (TOPS Obesity and Metabolic Research Center, Medical College of Wisconsin
    Human and Molecular Genetics Center, Medical College of Wisconsin)

  • Elisabet Stener-Victorin

    (Karolinska Institutet)

  • Richard S. Legro

    (Penn State College of Medicine)

  • Andrea Dunaif

    (Metabolism, and Molecular Medicine, Northwestern University Feinberg School of Medicine
    Center for Genetic Medicine, Northwestern University Feinberg School of Medicine)

Abstract

Polycystic ovary syndrome (PCOS) is a common, highly heritable complex disorder of unknown aetiology characterized by hyperandrogenism, chronic anovulation and defects in glucose homeostasis. Increased luteinizing hormone relative to follicle-stimulating hormone secretion, insulin resistance and developmental exposure to androgens are hypothesized to play a causal role in PCOS. Here we map common genetic susceptibility loci in European ancestry women for the National Institutes of Health PCOS phenotype, which confers the highest risk for metabolic morbidities, as well as reproductive hormone levels. Three loci reach genome-wide significance in the case–control meta-analysis, two novel loci mapping to chr 8p23.1 and chr 11p14.1, and a chr 9q22.32 locus previously found in Chinese PCOS. The same chr 11p14.1 SNP, rs11031006, in the region of the follicle-stimulating hormone B polypeptide (FSHB) gene strongly associates with PCOS diagnosis and luteinizing hormone levels. These findings implicate neuroendocrine changes in disease pathogenesis.

Suggested Citation

  • M. Geoffrey Hayes & Margrit Urbanek & David A. Ehrmann & Loren L. Armstrong & Ji Young Lee & Ryan Sisk & Tugce Karaderi & Thomas M. Barber & Mark I. McCarthy & Stephen Franks & Cecilia M. Lindgren & C, 2015. "Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations," Nature Communications, Nature, vol. 6(1), pages 1-13, November.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms8502
    DOI: 10.1038/ncomms8502
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