人类XRCC1-399单核苷酸多态性与原发性肝细胞癌的相关研究

目的以病例-对照研究方式探讨人类DNA修复基因XRCC1-399单核苷酸多态性(SNP)与HBV感染者的原发性肝细胞癌(HCC)的发生关系。方法72例HCC患者经病理检查证实，根据地缘、性别、年龄，按1：1～2比例匹配137例非HCC对照者。采用聚合酶链反应一限制片段长度多态性(PCR-RFLP)技术检测受试者XRCC1-399位SNP。结果(1)XRCC1-399SNP和年龄均与HCC的发生无关，但在XRCC1-399Arg／Arg受试者中，HCC的发生与年龄呈负相关(P=0．028)；(2)HBV感染是HCC发生的肯定因素(P=0．007)；在XRCC1-399Gln／Gln或Arg／Gln受试者中，伴HBV感染者HCC发生率(25．7％)远高于不伴HBV感染者(5．3％，P=0．047)；(3)XRCC1-399Arg／Arg受试者HBV感染率与Gln/Gln或Arg／Gln受试者近似(36．6％对38．0％，P=0．052)。结论(1)XRCC1-399Arg／Arg可能具有潜在抵抗HCC发生的作用；(2)XRCC1-399Gln／Gln或Arg／Gln联合HBV感染是HCC发生的高危因素。

Study on the association of human XRCC1-399 single nucleotide polymorphism and primary hepatocytic carcinoma

Objective To investigate the correlation between a single nucleotide polymorphism (SNP) of XRCC_1-399, a human NDA repair gene, and the development of primary hepatocytic carcinoma (HCC) in a case-control study.Methods The XRCC_1-399 SNP was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 72 HCC patients with pathological evidences and 137 matched control subjects recruited by matching on living area, sex and age.Results (1) The XRCC_1-399 SNP and age were not associated with the HCC development. Among individuals with XRCC_1-399 Arg/Arg, the HCC development had an inverse correlation with age (P=(0.028)); (2) HBV infection was an overwhelming risk for the development of HCC (P=(0.007)). Of individuals with -399Gln/Gln or Arg/Gln, those with HBV infection had a greater risk than those without it ((25.7%) v.s. (5.3%), P=(0.047)). (3) The rates of HBV infection in subjects with XRCC_1-399 Arg/Arg and with -399Gln/Gln or Arg/Gln were similar ((36.6%) v.s. (38.0%), P=(0.052)).Conclusion (1) The allele of XRCC_1-399 Arg/Arg might potentially resist against HCC development. (2) The alleles of -399Gln/Gln or Arg/Gln paralleled with HBV infection had high risk for HCC development.