结直肠癌患者的DNA修复基因XRCC1单核苷酸多态研究  

Polymorphisms of DNA repair gene XRCC1 and genetic susceptibility to colorectal cancer

作　　者：黄姗[1] 易斌[2] 杨星海[1] 芮瑞[3] 缪小平[3] 

机构地区：[1]湖北省妇幼保健院湖北省妇女儿童医院外科,武汉430070 [2]华中科技大学同济医学院附属同济医院外科 [3]华中科技大学同济医学院公共卫生学院流行病与卫生统计系

出　　处：《中华实验外科杂志》2010年第8期1057-1059,共3页Chinese Journal of Experimental Surgery

摘　　要：目的 探讨DNA碱基切除修复基因XRCC1单核苷酸多态与结直肠癌易感性的关系.方法 采用病例-对照分子流行病学方法,以聚合酶链反应-限制性酶切片段多态性（PCRRFLP）方法分析120例结直肠癌患者和150例正常对照XRCC1基因单核苷酸多态Arg194Trp和Arg399Gln的基因型分布,并比较不同基因型与结直肠癌风险的关系.结果 正常人群中194Arg/Arg、Arg/Trp和Trp/Trp基因型频率分别为52.0%、42.0%和6.0%,而结直肠癌患者中分别为40.8%、46.7%和12.5%,分布差异有统计学意义（P＜0.05,趋势检验）.与携带野生基因型Arg/Arg者比较,携带Trp/Trp基因型个体患结直肠癌的风险降低了1. 43倍（校正OR=2.43;95%CI=1.10～5.92）.而194Arg/Trp基因型和Arg399Gln遗传多态则与结直肠癌风险无关.结论 DNA修复基因XRCC1 Arg194Trp多态可能是结直肠癌发生的遗传易感因素.Objective To assesse the relationship between XRCC1 polymorphisms, Argl94Trp and Arg399Gln, and susceptibility to colorectal cancer （CRC）. Methods Genotypes were determined by PCR-RFLP methods in 150 healthy controls and 120 patients with colorectal cancer. The adjusted odds, ratios （ORs） and 95% confidence intervals （CIs） were calculated using unconditional logistic regression. Results The distribution of XRCC1 Argl94Trp genotypes among controls was Arg/Arg （53.0% ）, Arg/Trp （42.0% ） , and Trp/Trp （6.0% ） , while the frequencies of the 3 genotypes among colorectal cancer cases were 40.8% , 46.7% and 12.5%, respectively （P〈0.05, trend test）. Individuals carrying Trp/Trp genotype were at an increased risk for colorectal cancer compared with those with the Arg/Arg （adjusted OR, 2.43; 95% CI = 1.10-5.92）. However, Arg399Gln polymorphism was not found to be associated with risk of CRC. Conclusion The XRCC1 Argl94Trp polymorphism may be associated with the risk of CRC in this Chinese population.

关 键 词：结直肠癌 XRCC1 遗传易感性 

分 类 号：R735.34[医药卫生—肿瘤]