Replication study for the association of seven genome- GWAS-identified Loci with susceptibility to ovarian cancer in the Polish population

Pathol Oncol Res. 2015 Apr;21(2):307-13. doi: 10.1007/s12253-014-9822-6. Epub 2014 Aug 31.

Abstract

We investigated the previously-demonstrated association of seven genome-wide association studies (GWAS) single nucleotide polymorphisms (SNPs), including rs2072590 (HOXD-AS1), rs2665390 (TIPARP), rs10088218 and rs10098821 (8q24), rs3814113 (9p22), rs9303542 (SKAP1) and rs2363956 (ANKLE1), as risk factors of epithelial ovarian tumors (EOTs). These SNPs were genotyped in two hundred seventy three patients with EOTs and four hundred sixty four unrelated healthy females from the Polish population. We observed the lowest p values of the trend test for the 9p22 rs3814113 and 8q24 rs10098821 SNPs in patients with all subtypes of ovarian cancer (p(trend) = 0.010 and p(trend) = 0.014, respectively). There were also significant p values for the trend of the 9p22 rs3814113 and the 8q24 rs10098821 SNPs for serous histological subtypes of ovarian cancer (p(trend) = 0.006, p(trend) = 0.033, respectively). Moreover, stratification of the patients based on their histological type of cancer demonstrated, in the dominant hereditary model, a significant association of the 9p22 rs3814113 SNP with serous ovarian carcinoma OR = 0.532 (95% CI = 0.342 - 0.827, p = 0.005, p(corr) = 0.035). Despite the relatively small sample size of cases and controls, our studies confirmed some of the previously-demonstrated GWAS SNPs as genetic risk factors for EOTs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Carcinoma, Ovarian Epithelial
  • Case-Control Studies
  • Endonucleases / genetics
  • Female
  • Genetic Loci / genetics*
  • Genetic Predisposition to Disease / ethnology
  • Genetic Predisposition to Disease / genetics*
  • Genome-Wide Association Study*
  • Genotype
  • Homeodomain Proteins / genetics
  • Humans
  • Middle Aged
  • Neoplasms, Glandular and Epithelial / epidemiology
  • Neoplasms, Glandular and Epithelial / ethnology
  • Neoplasms, Glandular and Epithelial / genetics*
  • Nucleoside Transport Proteins
  • Ovarian Neoplasms / epidemiology
  • Ovarian Neoplasms / ethnology
  • Ovarian Neoplasms / genetics*
  • Phosphoproteins / genetics
  • Poland / epidemiology
  • Poly(ADP-ribose) Polymerases / genetics
  • Polymorphism, Single Nucleotide / genetics*
  • Risk Factors

Substances

  • HOXD1 protein, human
  • Homeodomain Proteins
  • Nucleoside Transport Proteins
  • Phosphoproteins
  • SKAP1 protein, human
  • TiPARP protein, human
  • Poly(ADP-ribose) Polymerases
  • ANKLE1 protein, human
  • Endonucleases