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

• Published in: PloS one 2012-07, Vol.7 (7), p.e41500-e41500
• Main Authors: Zhu, Mei-Ling, Shi, Ting-Yan, Hu, Hai-Chuan, He, Jing, Wang, Mengyun, Jin, Li, Yang, Ya-Jun, Wang, Jiu-Cun, Sun, Meng-Hong, Chen, Huan, Zhao, Kuai-Le, Zhang, Zhen, Chen, Hai-Quan, Xiang, Jia-Qing, Wei, Qing-Yi
• Format: Article
• Language: English
• Subjects: Aged; Apoptosis; Asian Continental Ancestry Group; Binding sites; Biology; Cancer; Cancer genetics; Cancer research; Carcinoma, Squamous Cell - epidemiology; Carcinoma, Squamous Cell - genetics; Case-Control Studies; China; Chromosomes; Colorectal cancer; Confidence intervals; Deoxyribonucleic acid; DNA; DNA repair; DNA-Binding Proteins - genetics; Endonucleases - genetics; Enzymes; Epigenetics; Esophageal cancer; Esophageal Neoplasms - epidemiology; Esophageal Neoplasms - genetics; Esophagus; Female; Genes; Genetic aspects; Genetic engineering; Genotypes; Haplotypes; Health risks; Humans; Laboratories; Male; Medical research; Medicine; Middle Aged; Neoplasm Proteins - genetics; Nuclear Proteins - genetics; Oncology; Polymorphism, Single Nucleotide; Population studies; Populations; Proteins; Radiation therapy; Regression analysis; Regression models; Repair; Risk; Risk Factors; RNA polymerase; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Squamous cell carcinoma; Statistical analysis; Studies; Surgery; Thoracic surgery; Transcription factors; Transcription Factors - genetics
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0041500

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. 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. 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.