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

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, Corrine K. Welt, Evanthia Diamanti-Kandarakis, Dimitrios Panidis, Mark O. Goodarzi, Ricardo Azziz, Yi Zhang, Roland G. James, Michael Olivier, Ahmed H. Kissebah, Elisabet Stener-Victorin, Richard S. Legro and Andrea Dunaif
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M. Geoffrey Hayes: Metabolism, and Molecular Medicine, Northwestern University Feinberg School of Medicine
Margrit Urbanek: Metabolism, and Molecular 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
Stephen Franks: Institute of Reproductive & Developmental Biology, Hammersmith Hospital, Imperial College London
Cecilia M. Lindgren: Wellcome Trust Centre for Human Genetics, University of Oxford
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
Roland G. James: TOPS Obesity and Metabolic Research Center, Medical College of Wisconsin
Michael Olivier: Texas Biomedical Research Institute
Ahmed H. Kissebah: TOPS Obesity and Metabolic Research 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

Nature Communications, 2015, vol. 6, issue 1, 1-13

Abstract: 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.

Date: 2015
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DOI: 10.1038/ncomms8502

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