Polymorphisms in the ERCC5 gene and risk of esophageal squamous cell carcinoma (ESCC) in Eastern Chinese populations

PLoS One. 2012;7(7):e41500. doi: 10.1371/journal.pone.0041500. Epub 2012 Jul 26.

Abstract

Background: Excision repair cross complementing group 5 (ERCC5 or XPG) plays an important role in regulating DNA excision repair; its functional single nucleotide polymorphisms (SNPs) may alter DNA repair capacity and thus contribute to cancer risk.

Methodology/principal findings: In a hospital-based case-control study of 1115 esophageal squamous cell carcinoma (ESCC) cases and 1117 cancer-free controls, we genotyped three potentially functional SNPs of ERCC5 (SNPs, rs2296147T>C, rs2094258C>T and rs873601G>A) and estimated crude and adjusted odds ratios (ORs) and 95% confidence intervals (CIs) for their associations with risk of ESCC using unconditional logistic regression models. We also calculated false-positive report probabilities (FPRPs) for significant findings. We found that compared with the TT genotype, ERCC5 rs2296147 C variant genotypes were associated with a significantly lower ESCC risk (CT: adjusted OR = 0.76, 95% CI = 0.63-0.93, CT/CC: adjusted OR = 0.80, 95% CI = 0.67-0.96); however, this risk was not observed for the other two SNPs (rs2094258C>T and rs873601 G>A), nor in further stratification and haplotype analysis.

Conclusions/significances: These findings suggested that ERCC5 polymorphisms may contribute to risk of ESCC in Eastern Chinese populations, but the effect was weak and needs further validation by larger population-based case-control studies.

Publication types

  • Clinical Trial
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Asian People
  • Carcinoma, Squamous Cell / epidemiology
  • Carcinoma, Squamous Cell / genetics*
  • Case-Control Studies
  • China
  • DNA-Binding Proteins / genetics*
  • Endonucleases / genetics*
  • Esophageal Neoplasms / epidemiology
  • Esophageal Neoplasms / genetics*
  • Female
  • Haplotypes*
  • Humans
  • Male
  • Middle Aged
  • Neoplasm Proteins / genetics*
  • Nuclear Proteins / genetics*
  • Polymorphism, Single Nucleotide*
  • Risk Factors
  • Transcription Factors / genetics*

Substances

  • DNA excision repair protein ERCC-5
  • DNA-Binding Proteins
  • Neoplasm Proteins
  • Nuclear Proteins
  • Transcription Factors
  • Endonucleases