食管癌中ERCC2/XPD和XRCC1基因多态性的表达

目的:探讨DNA损伤修复基因ERCC2/XPD和XRCC1基因多态性与食管癌遗传易感性的关系。方法:采用病例对照研究设计，选取100例食管癌病例和80例正常对照。选取ERCC2/XPD Lys751Gln和XRCC1 Arg399Gln基因多态性为研究位点，以聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法进行多态性检测，应用Logistic回归计算OR值及95%CI，比较不同基因型与食管癌发病风险的关系。结果:病例组和对照组中变异型等位基因ERCC2/XPD Lys751Gln的频率分别是15.7%和13.0%。与野生基因型Lys/Lys相比，携带XPD Lys/Gln和Gln/Gln基因型者患食管癌的危险度比值比(odds ratio，OR)分别是1.94(95%CI:1.22～3.36)和0.56（95%CI:0.15～2.64)。变异型等位基因XRCC1 399Gln的频率在病例组和对照组中分别是29.8%和30.2%，与野生基因型XRCC1 Arg/Arg相比，带Arg/Gln和Gln/Gln基因型者患食管癌的OR分别是0.94(95%CI:0.69～1.31)和1.83(95%CI:0.84～3.89)。分析结果提示饮酒、酸泡菜与XPD Lys751Gln基因多态存在交互作用，交互效应OR值分别为2.24(95%CI:1.18～2.87)和2.53(95%CI:1.71～3.46)，携带XPD Lys751Gln和XRCC Arg1399Gln突变基因者若同时暴露于酸泡菜或酒精，则患食管癌的危险显著增加，相较未暴露于上述因素者，OR值均增大。结论:DNA损伤修复基因ERCC2/XPD和XRCC1单核苷酸多态性可能与当地居民食管癌遗传易感性有关，与饮酒、酸泡菜存在交互作用。

Polymorphism of DNA repair gene ERCC2/XPD and XRCC1 and its relationship with esophageal squamous cell carcinoma

Objective:To assess the relationship between ERCC2/XPD and XRCC1 polymorphism and genetic susceptibility to esophageal cancer in a high risk Jiangsu population.Methods:A case-control study among 100 ESCC cases and 80 controls matched by age and gender was conducted，and the genotypes were determined by the polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP) assays.Logistic regression analysis was used to evaluate the odd ratios (ORs) and 95% confidence intervals（CIs) of ERCC2/XPD Lys751Gln and XRCC1 Arg399Gln with susceptibility of ESCC.Results:The allele frequency for variant ERCC2/XPD 751Gln in cases and controls were 15.7% and 13.0% respectively.The odds ratios for individuals carrying ERCC2/XPD Lys/Gln and Gln/Gln were 1.94 (95%CI:1.22～3.36) and 0.56 （95%CI:0.15～2.64).The allele frequency for variant XRCC1 Arg399Gln in cases and controls were 15.7% and 13% respectively.The odds ratios for individuals carrying XRCC1 Arg399Gln Arg/Gln and Gln/Gln were 0.94 (95%CI:0.69～1.31) and 1.83 (95%CI:0.84～3.89).A significant interaction was found between ERCC2/XPD Lys751Gln polymorphism and alcohol or Sauerkraut in ESCC.Conclusion:Geneticpolymorphism of ERCC2/XPD Lys/Gln is associated with the susceptibility to esophageal squamous cell carcinoma.