Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women

Nat Commun. 2014 Aug 19;5:4682. doi: 10.1038/ncomms5682.

Abstract

Ovarian cancer is the leading cause of death from gynaecological malignancies worldwide. Here we perform a three-stage genome-wide association study (GWAS) in Han Chinese women to identify risk genetic variants for epithelial ovarian cancer (EOC). We scan 900,015 single-nucleotide polymorphisms (SNPs) in 1,057 EOC cases and 1,191 controls in stage I, and replicate 41 SNPs (P(meta)<10(-4)) in 960 EOC cases and 1,799 controls (stage II), and an additional 492 EOC cases and 1,004 controls (stage III). Finally, we identify two EOC susceptibility loci at 9q22.33 (rs1413299 in COL15A1, P(meta) = 1.88 × 10(-8)) and 10p11.21 (rs1192691 near ANKRD30A, P(meta) = 2.62 × 10(-8)), and two consistently replicated loci at 12q14.2 (rs11175194 in SRGAP1, P(meta) = 1.14 × 10(-7)) and 9q34.2 (rs633862 near ABO and SURF6, P(meta) = 8.57 × 10(-7)) (P<0.05 in all three stages). These results may advance our understanding of genetic susceptibility to EOC.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian Continental Ancestry Group / genetics*
  • Carcinoma, Ovarian Epithelial
  • Case-Control Studies
  • Collagen / genetics
  • Female
  • GTPase-Activating Proteins / genetics
  • Genetic Loci / genetics*
  • Genetic Predisposition to Disease / ethnology
  • Genetic Predisposition to Disease / genetics*
  • Genome-Wide Association Study*
  • Humans
  • Middle Aged
  • Neoplasms, Glandular and Epithelial / ethnology
  • Neoplasms, Glandular and Epithelial / genetics*
  • Nuclear Proteins / genetics
  • Ovarian Neoplasms / ethnology
  • Ovarian Neoplasms / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Protein-Serine-Threonine Kinases / genetics
  • Risk Factors

Substances

  • COL15A1 protein, human
  • GTPase-Activating Proteins
  • Nuclear Proteins
  • SRGAP1 protein, human
  • SURF6 protein, human
  • Collagen
  • RIPK4 protein, human
  • Protein-Serine-Threonine Kinases