中文摘要：

目的探讨DNA损伤修复基因XPD和XRCC1基因多态与食管癌遗传易感性的关系。方法以食管癌高发区江苏省扬中市为现场,采用以人群为基础的病例对照研究方法,收集2004年1月至2006年3月间经病理学确诊的新发食管鳞状细胞癌病例355例,对照组408例来自同一人群,按年龄和性别与病例进行成组频数匹配。用PCR-RFLP方法检测XPD Lys751Gln和XRCC1 Arg 399Gln基因多态,比较不同基因型与食管癌发病的关系并探讨吸烟、饮酒等环境因素与基因的交互效应。结果病例组和对照组中变异型等位基因XPD 751Gln的频率分别是13.86%和11.00%。与野生基因型Lys/Lys相比,男性携带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：1.15～3.28）和0.32（95%CI：0.05～2.17）,女性OR值分别为1.09（95%CI：0.59～2.02）和1.66（95%CI：0.10～27.35）。变异型等位基因XRCC1399Gln的频率在病例组和对照组中分别是31.7%和29.6%,与野生基因型XRCC1Arg/Arg相比,男性携带Arg/Gln和Gln/Gln基因型者患食管癌的OR分别是0.76（95%CI：0.50～1.17）和1.74（95%CI：0.77～3.92）,女性OR值分别为1.69（95%CI：0.98～2.90）和0.30（95%CI：0.08～1.20）。叉生分析结果提示男性饮酒、饮茶与XPD Lys751Gln基因多态存在交互作用,交互效应OR值分别为2.01（95%CI：1.14～2.76）和4.47（95%CI：1.71～11.64）,携带XPD Lys751Gln和XRCC Arg1399Gln突变基因者若同时暴露于饮茶或酒精,则患食管癌的危险显著增加。而在女性对象中均未观察到基因与环境因素的交互作用。结论DNA损伤修复基因XPD Lys751Gln单核苷酸多态可能与当地男性居民食管癌遗传易感性有关,与饮酒和饮茶存在交互作用。

英文摘要：

Objective To assess the relationship between XPD and XRCC1 polymorphism and genetic susceptibility to esophageal cancer in a high risk Jiangsu population.Methods Three hundred and fifty-five histologically confirmed esophageal squamous ce1ll carcinoma patients and 408 healthy controls matched by gender and age were recruited in the study.Polymerase chain reaction and restriction fragment length polymorphism（PCR-RFLP）approaches were applied to detect the genotypes of XPD and XRCC1.Odds ratios were provided to estimate the risk of smoking,alcohol and gene interaction.Results The allele frequency for variant XPD 751Gln in cases and controls were 13.86% and 11.00% respectively.The odds ratios for individuals carrying XPD Lys/Gln and Gln/Gln were 1.94（95% CI：1.15-3.28）and 0.32（95% CI：0.05-2.17）in men,and 1.09（95% CI：0.59-2.02）and 1.66（95% CI：0.10-27.35）in women respectively.The allele frequency for variant XRCC1 399Gln in cases and controls were 31.7% and 29.6% respectively.No significant association was found between XRCC1 polymorphism and esophageal cancer in both men and women.A significant interaction was found between XPD Lys751Gln polymorphism and alcohol or green tea drinking in men.Conclusions Genetic polymorphism of XPD Lys751Gln is associated with the susceptibility to esophageal squamous cell carcinoma of men in Yangzhong County.