HapMap-based study of a region encompassing ERCC1 and ERCC2 related to lung cancer susceptibility in a Chinese population.

摘要: Abstract DNA repair genes play a crucial role in carcinogenesis. The paper aims to explore if common variants ERCC1 are involved lung cancer susceptibility. A Chinese case–control study included 339 cases and 358 controls using five haplotype-tagging SNPs (htSNPs) (rs3212980, rs3212964, rs3212961, rs11615 rs2298881) from the HapMap database, capturing 95% of haplotypic diversity . combined analysis eleven htSNPs covering ERCC2 was performed. No significant association between individual susceptibility observed. There were interactions rs3212961 rs2298881and smoking duration ( P  = 0.03  = 0.01, respectively). Thus, variant alleles [OR (95% CI) = 1.81(1.03–3.17),  = 0.04] rs2298881 CI) = 2.16(1.26–3.70),  = 0.005] associated with risk among long-term smokers (>20 years) but not never short-term smokers. associations observed for global or haplotypes defined by highly differential distribution based on found (global test  =4.3 × 10 −5 ). After Bonferroni correction, haplotypeER2 + 1–1 CI) = 3.63 (1.39–9.47),  = 0.005, marginally] haplotypeER2 + 1–8 CI) = 4.46 (2.03–9.79),  = 5.6 × 10 , strongly] increased cancer. diplotype also statistically These data suggest that genetic variations may influence smoking-related one causative effectors locate around within