DNA修复基因XPD多态性和肝细胞肝癌危险性的病例-对照研究  

A case-control study on polymorphism of DNA repair gene XPD and susceptibility to hepatocellular carcinoma

作　　者：许丽[1,2] 吴一迁[1,2] 金晏[1,2] 于永梅[1,2] 钱耕荪[1,2] 

机构地区：[1]上海市肿瘤研究所,上海200032 [2]上海交通大学肿瘤研究所

出　　处：《肿瘤》2004年第6期526-529,共4页Tumor

摘　　要：目的　探讨DNA修复基因XPD多态性和肝细胞肝癌 (Hepatocellularcarcinoma ,HCC)发生的关系。方法　应用病例 对照研究方法 ,选择了江苏启东地区 72例HCC患者以及 137例正常对照 ,以年龄 (± 3岁 )和性别为配对因素进行了配对 ,对XPD 75 1位点基因多态性作PCR RFLP分析。结果　XPD 75 1位点的Gln/Lys或Gln/Gln基因型的发生频率在病例组中明显高于对照组 ,差别有显著性 (OR =3.13,95 %CI =1.16～ 8.4 7) ,在调整了HBV感染因素后 ,差别的显著性虽然消失 ,但可信限下限位于临界处 (OR =2 .70 ,95 %CI =0 .98～ 7.4 2 )。对HBV感染患者并同时伴有XPD 75 1位点为Gln/Lys或Gln/Gln基因型的个体 ,其HCC发生的危险性是HBV阴性及XPD 75 1位点为Lys/Lys野生型基因型个体的 6 .6 8倍 ,差别有显著性 (OR=6 .6 8,95 %CI=3.4 3～ 13.0 1)。结论　本次研究的结果首次应用病例 对照研究发现XPD 75 1位点基因多态性可能影响HCC的发生 ,同时指出XPD 75Objective To elucidate the association between the polymorphism of XPD and the risk of Heptocellular Carcinoma (HCC). Methods A case-control study was conducted involving 72 HCC patients and 137 healthy controls to investigate the association between polymorphism of XPD at codon 751(Lys751Gln) and HCC. Both cases and controls were collected from Qidong, Jiangsu Province, Peoples Republic of China. The 72 HCC patients had been histopathologically confirmed. The 137 healthy controls were selected from an ongoing cohort study on HCC at Qidong and matched with the HCC patients on age (±3 years) and sex. DNA was extracted from peripheral blood lymphocytes using standard methods. The PCR-RFLP analysis was used and Odds Ratios (ORs) with 95% CI were calculated using multivariate logistic regression analysis that included age, sex and HBV infection status. Results The frequency of the XPD-751 Lys/Gln or Gln/Gln genotype was higher in cases (18.57%) than in controls (8.09%), and the difference was significant (OR=3.31, 95% CI=1.16-8.47). After adjusting for HBV infection status, the difference was non-significant, but the lower limit of 95% confident interval was on the borderline (OR=2.70, 95% CI=0.98-7.42). Among individuals with both HBV infection and XPD-751 Lys/Gln or Gln/Gln variant genotype, the risk was significant higher than those without HBV infection and with XPD-751 Lys/Lys wildtype genotype (OR=6.68, 95% CI=3.43-13.01). It was shown that a gene-environment interaction may exist. Conclusion The results suggest that the genetic polymorphism of XPD Lys751Gln my contribute to the genesis of HCC, and imply a gene-environment interaction of XPD and HBV infection status.

关 键 词：肝肿瘤/流行病学 癌 肝细胞 病例-对照研究 DNA修复 XPD基因 遗传多态性 

分 类 号：R73-61[医药卫生—肿瘤] R735.7[医药卫生—临床医学]