食管癌中 ERCC2/XPD 和 XRCC1基因多态性的表达

摘要

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 ES-CC cases and 80 controls matched by age and gender was conducted,and the genotypes were determined by the poly-merase 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 vari-ant XRCC1 Arg399Gln in cases and controls were 15. 7% and 13% respectively. The odds ratios for individuals car-rying XRCC1 Arg399 Gln 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 esopha-geal squamous cell carcinoma.%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 XRCC1399Gln 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。