Metabolic and cardiovascular genes in polycystic ovary syndrome: A candidate-wide association study (CWAS)

Academic Article

Abstract

  • The role of metabolic disturbance in polycystic ovary syndrome (PCOS) has been well established, with insulin resistance and the resulting compensatory hyperinsulinemia thought to promote hyperandrogenemia. Genome-wide association studies (GWAS) have established a large number of loci for metabolic conditions such as type 2 diabetes and obesity. A subset of these loci has been investigated for a role in PCOS; these studies generally have not revealed a confirmed role for these loci in PCOS risk. However, a large scale investigation of genes related to these pathways has not previously been performed. We conducted a two stage case control association study of 121,715 single nucleotide polymorphisms (SNPs) selected to represent susceptibility loci associated with traits such as type 2 diabetes, obesity measures, lipid levels and cardiovascular function using the Cardio-Metabochip in 847 PCOS cases and 845 controls. Several hypothesis-generating associations with PCOS were observed (top SNP rs2129107, P = 3.8 × 10 -6). We did not find any loci definitively associated with PCOS after strict correction for multiple testing, suggesting that cardio-metabolic loci are not major risk factors underlying the susceptibility to PCOS. © 2011 Elsevier Inc. All rights reserved.
  • Authors

    Published In

  • Steroids  Journal
  • Digital Object Identifier (doi)

    Author List

  • Jones MR; Chua AK; Mengesha EA; Taylor KD; Chen YDI; Li X; Krauss RM; Rotter JI; Legro RS; Azziz R
  • Start Page

  • 317
  • End Page

  • 322
  • Volume

  • 77
  • Issue

  • 4