Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome

Nat Genet. 2012 Sep;44(9):1020-5. doi: 10.1038/ng.2384. Epub 2012 Aug 12.


Following a previous genome-wide association study (GWAS 1) including 744 cases and 895 controls, we analyzed genome-wide association data from a new cohort of Han Chinese (GWAS 2) with 1,510 polycystic ovary syndrome (PCOS) cases and 2,016 controls. We followed up significantly associated signals identified in the combined results of GWAS 1 and 2 in a total of 8,226 cases and 7,578 controls. In addition to confirming the three loci we previously reported, we identify eight new PCOS association signals at P < 5 × 10(-8): 9q22.32, 11q22.1, 12q13.2, 12q14.3, 16q12.1, 19p13.3, 20q13.2 and a second independent signal at 2p16.3 (the FSHR gene). These PCOS association signals show evidence of enrichment for candidate genes related to insulin signaling, sexual hormone function and type 2 diabetes (T2D). Other candidate genes were related to calcium signaling and endocytosis. Our findings provide new insight and direction for discovering the biological mechanisms of PCOS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics
  • Asian People / statistics & numerical data
  • Case-Control Studies
  • Cohort Studies
  • Diabetes Mellitus, Type 2 / epidemiology
  • Diabetes Mellitus, Type 2 / ethnology
  • Diabetes Mellitus, Type 2 / genetics
  • Female
  • Gene Frequency
  • Genetic Loci*
  • Genetic Predisposition to Disease / ethnology
  • Genome-Wide Association Study* / statistics & numerical data
  • Genotype
  • Humans
  • Meta-Analysis as Topic
  • Polycystic Ovary Syndrome / epidemiology
  • Polycystic Ovary Syndrome / ethnology
  • Polycystic Ovary Syndrome / genetics*
  • Polymorphism, Single Nucleotide / physiology
  • Receptors, FSH / genetics
  • Validation Studies as Topic


  • Receptors, FSH