XRCC1基因多态性与结直肠癌易感性关系的研究

目的研究XRCC1基因多态性与结直肠癌易感性的关系。方法采用1︰1病例-对照研究方法,收集原发性结直肠癌病例136例,同时随机选取同性别、同民族、年龄相差±5岁、同期住院的非肿瘤、非消化道系统疾病患者作为对照,采用PCR-RFLP方法分析XRCC1基因Arg194Trp、Arg399Gln 2个位点的多态性,比较不同基因型与结直肠癌易感性的关系。结果在病例组和对照组194Trp的频率为55.88%和51.47%,399Gln的频率为56.62%和45.59%,差异均无统计学意义,男性组携带194Trp等位基因的个体患结直肠癌的风险增高（OR=2.037,95%CI=1.038-3.831,P=0.026）,同时携带194Trp和399Gln基因型的个体患结直肠癌的风险增加（OR=2.013,95%CI=1.007-4.026,P=0.047）。结论 XRCC1 194Trp基因型可增加男性患结直肠癌的风险,同时携带194Trp和399Gln基因型的个体患结直肠癌的风险增加。

STUDY ON THE RELATIONSHIP BETWEEN GENETIC POLYMORPHISM OF DNA REPAIR GENE-XRCC1 AND THE SUSCEPTIBILITY TO COLORECTAL CANCER

Objective To investigate the relationship between the genetic polymorphism of XRCC1 and the susceptibility to colorectal cancer.Methods A one to one matched case-control study was conducted.A total of 136 patients with primary colorectal cancer were collected,and those who had no cancer and no digestive system diseases as control（matched for ages±5 years,sex and nationality）. The genetic polymorphisms of XRCC1 at Arg194Trp,Arg399Gln were determined by PCR-based restriction fragment length polymorphism techniques.Results The frequencies of 194Trp allele gene in the cases and controls were 55.88% and 51.47% respectively,those of 399Gln were 56.62% and 45.59%respectively,there had no statistically difference in both groups.However,the male group with194Trp allele gene had a higher risk.（OR =2.037（95%CI=1.038-3.831,P=0.026）.The risk of colorectal cancer with the 194Trp and 399Gln genes was increased（OR=2.013,95%CI = 1.007~4.026,P=0.047）.Conclusion The XRCC1 194Trp genetic polymorphism may raise the risk of the colorectal cancer in male,and so as those with both the 194Trp and 399Gln genes.