Study on association between ERCC5 single nucleotide polymorphism and susceptibility to esophageal cancer

DNA repair genes play important roles in the genesis of esophageal cancer, and their functional single nucleotide polymorphism (SNP) loci may affect the susceptibility to esophageal cancer through changing the capability of DNA damage repair.

A total of 557 patients with esophageal squamous cell carcinoma and 1503 age- and gender-matched healthy people were selected in this study. The hospital-based case-control method and the candidate gene and functional locus-based SNP selection strategy were used to screen three functional SNPs, loci on excision repair cross complement 5 (ERCC5): rs2296147, rs873601 and rs2094258. Genotyping was performed using Taqman method. A logistic regression model was used to analyze the relationship between the selected loci and the risk of esophageal cancer.

rs2296147 reduced the risk of esophageal cancer (CC vs TT: OR=0.79, 95% CI=0.64-0.97, p=0.027; additive model: OR=0.80, 95% CI=0.68-0.94, p=0.007). The results of stratified analysis showed that rs2296147 could reduce the susceptibility to esophageal cancer in women, non-smokers, drinkers and non-drinkers. No correlation between rs873601 and rs2094258 and susceptibility to esophageal cancer was found. However, the combined effect analysis showed that rs2296147, rs873601 and rs2094258 could increase the risk of esophageal cancer (ptrend=0.006).

The results of this case-control study showed that the polymorphic locus on ERCC5, rs2296147, could reduce the risk of esophageal cancer, which will help further understand the pathogenesis of esophageal cancer.