Genome-wide association study identifies GYS2 as a novel genetic factor for polycystic ovary syndrome through obesity-related condition

J Hum Genet. 2012 Oct;57(10):660-4. doi: 10.1038/jhg.2012.92. Epub 2012 Sep 6.

Abstract

To investigate the role of genetic predisposition in the pathogenesis of polycystic ovary syndrome (PCOS) in relation to obesity, we performed a genome-wide association study of PCOS in Koreans (n=1741). PCOS is a heterogeneous endocrinal disorder of uncertain etiology. Obesity is one of the well-known risk factors for PCOS. Genome-wide association study. Women with or without PCOS. A total of 1881 samples were genotyped using Illumina HumanOmni1 Quad v1 and processed by R packages. The PCOS patients were divided into two subgroups according to PCOS diagnostic criteria (Rotterdam and National Institutes of Health (NIH)). For PCOS-associated loci in the two definitions, we successfully confirmed significant associations of GYS2 for body mass index in the discovery stage. We further replicated pleiotropic associations of GYS2 in a childhood obesity study (n=482) and in a gestational diabetes study (n=1710), respectively. Our study provides a preliminary framework upon diverse genetic effects underlying PCOS in Korean women. A newly identified GYS2 gene as a predisposing factor of PCOS might expand understanding of the biological pathways in metabolic and endocrine regulation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amenorrhea / genetics
  • Asian People
  • Body Mass Index
  • Case-Control Studies
  • Child
  • Diabetes, Gestational / genetics
  • Female
  • Gene Frequency
  • Genetic Pleiotropy
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study / methods*
  • Humans
  • Obesity / genetics*
  • Oligomenorrhea / genetics
  • Polycystic Ovary Syndrome / diagnosis
  • Polycystic Ovary Syndrome / genetics*
  • Polymorphism, Single Nucleotide
  • Pregnancy
  • Risk Factors
  • Young Adult