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

Published online

Journal Article

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 [Corrected] 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.

Full Text

Duke Authors

Cited Authors

  • Hayes, MG; Urbanek, M; Ehrmann, DA; Armstrong, LL; Lee, JY; Sisk, R; Karaderi, T; Barber, TM; McCarthy, MI; Franks, S; Lindgren, CM; Welt, CK; Diamanti-Kandarakis, E; Panidis, D; Goodarzi, MO; Azziz, R; Zhang, Y; James, RG; Olivier, M; Kissebah, AH; Reproductive Medicine Network, ; Stener-Victorin, E; Legro, RS; Dunaif, A

Published Date

  • August 18, 2015

Published In

Volume / Issue

  • 6 /

Start / End Page

  • 7502 -

PubMed ID

  • 26284813

Pubmed Central ID

  • 26284813

Electronic International Standard Serial Number (EISSN)

  • 2041-1723

Digital Object Identifier (DOI)

  • 10.1038/ncomms8502


  • eng

Conference Location

  • England