| Background and Objective: DNA damage induced by various agents can cause gene mutations and thus cell transformation. It has been shown that reduction in DNA repair capacity is associated with increased risk of cancer. A poly(AT) polymorphism (XPC-PAT) has been found in XPC, an important component of nucleotide excision repair pathway. This polymorphism has been associated with altered DNA repair capacity. This study was therefore to assess the relationship between XPC-PAT polymorphism and susceptibility to esophageal squamous cell carcinoma (ESCC). Methods: Genotypes were determined by PCR in 572 ESCC patients and 586 controls. The odds ratios (ORs) and 95% confidence intervals (CIs) were computed by using multivariate logistic regression models. Results: The distribution of XPC-PAT genotypes among controls were XPC-PAT+/+ (LL) 11.1%, XPC-PAT+/- (LS) 49.3%, and XPC-PAT-/- (SS) 39.6%, respectively, which were not significantly different from those (LL 15.2%, LS 45.1%, and SS 39.7%) among cases (P > 0.05). However, multivariate logistic regression analysis showed that individuals carrying the LL genotype were at an increased risk for the occurrence of ESCC compared with those carrying the LS or SS genotype (adjusted OR = 1.43; 95% CI = 1.01-2.02). Stratification analysis showed that the increased risk of ESCC related to the LL genotype was limited in male subjects, with the OR being 1.54 (95% CI = 1.02-2.32). Also, the increased risk related to the LL genotype was more pronounced in older subjects (>55years) compared with younger subjects (adjusted OR = 2.10; 95% CI = 1.27-3.47). No interaction between the polymorphism and tobacco smoking was found. Conclusion: Our findings indicate that the poly(AT) polymorphism in the XPC gene may be a genetic susceptibility factor for ESCC.
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