广西扶绥县肝癌家系XRCC1基因Arg399Gln多态性与肝细胞癌的遗传易感性

目的研究广西扶绥县肝癌家系人群DNA修复基因XRCC1Arg399Gln多态性与肝细胞癌（HCC）遗传易感性的相关性。方法采用病例-对照研究方法,对扶绥县21个肝癌家系人群和10个正常家系人群,运用PCR-RFLP方法分析XRCC1基因Arg399Gln位点多态性,并应用Logistic回归模型分析该位点多态性与肝细胞癌遗传易感性的关系。结果通过XRCC1Arg399Gln基因型检测分型,肝癌家系人群携带变异等位基因Gln的频率为23.68%,正常家系人群为13.16%,等位基因在两组间的分布差异无统计学意义（P〉0.05）。基因型分布符合Hardy-Weinberg平衡定律。正常家系人群中携带Arg/Gln者发生HCC的风险是携带Arg/Arg者的1.622倍（95%CI=0.475～5.541,P=0.440）。肝癌家系人群中除肝癌患者外,携带Arg/Gln、Gln/Gln者发生HCC的风险分别是携带Arg/Arg者的1.198倍（95%CI=0.362～3.968）和2.964倍（95%CI=0.434～20.220,P分别为0.768、0.267）。结论广西扶绥县肝癌家系人群中,XRCC1399Arg/Gln基因型和Gln/Gln基因型者患HCC的风险较Arg/Arg基因型者有增加的趋势,但不存在显著相关性。

Correlations between XRCC1 genetic polymorphism Arg399Gln and susceptibility to hepa-tocellular carcinoma in liver cancer family clusters in Fusui county,Guangxi

Objective To study the correlations between the Arg399Gln polymorphism in the DNA repair gene XRCC1 and genetic susceptibility to hepatocellular carcinoma（HCC） in liver cancer family groups in Fusui county,Guangxi.Methods In this case-control study,21 liver cancer family groups were selected as cases and 10 normal family groups as controls.Polymerase chain reaction-restric-tion fragment length polymorphism（PCR-RFLP） analysis was used to detect the XRCC1 polymorphism Arg399Gln,and logistic re-gression was carried out to analyze the relationship between the polymorphism and susceptibility to hepatocellular carcinoma（HCC）.Results The frequency of the variant Gln allele was 23.7% among liver cancer families and 13.2% among normal families.Allele dis-tributions did not differ significantly between the two groups（P0.05）,and genotype distributions conformed to Hardy-Weinberg e-quilibrium.For members of normal families,the risk of HCC for people with Arg/Gln was 1.622 times that of people with Arg/Arg（95% CI=0.475~5.541,P=0.440）.For members of HCC families,the risk of HCC for people with Arg/Gln was 1.198 times that of people with Arg/Arg（95% CI=0.362~3.968,P=0.768）,and the risk of HCC for people with Gln/Gln was 2.964 times that of people with Arg/Arg（95% CI=0.434~20.220,P=0.267）.Conclusion Analysis of the Arg399Gln polymorphism of the XRCC1 gene shows that,among liver cancer family groups in Fusui county,there is a trend towards greater HCC risk among people with Arg/Gln and Gln/Gln genotypes than among people with the Arg/Arg genotype.However,there are no significant correlations between the Arg399Gln polymorphism and susceptibility to HCC.