目的：研究广西壮族自治区扶绥县壮族人群肝细胞癌（hepatocellular carcinoma，HCC）家系DNA修复基因XRCC1 Arg399Gln（rs25487）和Arg280His（rs25489）多态性与HCC家系遗传易感性的相关性。方法：采用病例－对照研究和质谱检测方法，对广西扶绥县壮族人群20个HCC家系组79例和 10个正常对照家系组40例进行XRCC1基因 Arg399Gln（rs25487）和Arg280His（rs25489）基因型分布频率检测，应用非条件 Logistic回归分析基因多态性与HCC发生危险性的关系，并将实验结果结合临床资料进行统计学分析。结果: 正常对照家系组人群XRCC1 Arg399Gln（rs25487）中AG、AA基因型个体发生HCC的风险分别是GG基因型个体的9倍（95% CI＝0.828～97.780， P =0.071)和5.14倍(95% CI＝0.445～59.450， P =0190)；HCC家系组人群中非HCC患者AG、AA基因型的个体发生HCC的风险分别是GG基因型个体的4倍(95% CI=0689～23230， P =0.122)和2.85倍( 95% CI＝0.464～17.583， P =0.257)，差异均无统计学意义。Arg280His（rs25489）正常家系组人群中GA基因型个体发生HCC的风险分别是GG基因型个体的2.4倍(95% CI＝0.530～10.877， P =0.256)；HCC家系组人群中非HCC患者GA基因型的个体发生HCC的风险分别是GG基因型个体的1.02倍(95% CI＝0.286～3.650， P =0.973)，差异均无统计学意义。结论：广西扶绥壮族人群中XRCC1 Arg399Gln（rs25487）和Arg280His（rs25489）多态性与患HCC的风险无显著相关性。

Objective: To investigate the relationship between the Arg280His and Arg399Gln single nucleotide polymorphisms (SNPs) in the DNA repair gene XRCC1 and susceptibility to hepatocellular carcinoma（HCC）in members of liver cancer family of Zhuang population in Fusui county of Guangxi． Methods: Seventy-nine members of the 20 liver cancer families and 40 volunteers from 10 normal family groups were enrolled in this study. Genotypes of XRCC1 Arg399Gln（rs25487）and Arg280His（rs25489) SNPs were determined by Time of Flight Mass Spectrometer (MS-TOF) analysis. The potential association between the XRCC1 rg399Gln（rs25487）and Arg280His（rs25489）polymorphisms and HCC risk was evaluated by non-conditional logistic regression analysis. Results: In the normal control families, the risk of HCC for members with AG and AA genotypes in rs25487 was 9 (95% CI=0.828- 97.780， P =0.071 ) and 5.143 (95% CI=0.445-59.45， P =0.190) times higher than that of members with GG genotype. In the liver cancer families, the risk of HCC for members with AG and AA genotypes in this SNP was 4 (95% CI=0.689-23.230， P =0.122) and 2.857 (95% CI= 0.464～17.583， P =0.257）times higher than that of members with GG genotype. For SNP rs25489, the risk of HCC for members of the normal control families with GA genotype was 2.4 (95% CI= 0.530-10.877， P =0.256 ) times higher than that of members with GG genotype. In the liver cancer families, the risk of HCC for members with GA genotype was 1.02 （95% CI=0.286-3.650， P =0.973） times higher than that of members with GG. Conclusion: There is no statistic significant correlation between Arg399Gln（rs25487）and Arg280his（rs25489）polymorphisms in XRCC1 gene and susceptibility to HCC in family with liver cancer in Fusui county of Guangxi province.

国家自然科学基金资助项目（No. 81260320）；2013年广西研究生教育创新计划资助项目（No. YCBZ2013012）。