着色性干皮病基因D和X线交叉互补修复基因1的多态性与肺癌的相关性分析  

Correlation between Lung Cancer and the Polymorphism of Xeroderma Pigmentosum Gene D and X-Ray Repair Cross Complementing Gene 1

作　　者：都勇[1] 揭志军[1] 何燕超[1] 钱凌[1] 

机构地区：[1]复旦大学附属上海市第五人民医院呼吸内科,上海200240

出　　处：《中国临床医学》2014年第3期265-268,共4页Chinese Journal of Clinical Medicine

基　　金：上海市闵行区自然科学基金资助项目(编号:2013MHZ022)

摘　　要：目的：探讨着色性干皮病基因D（Xeroderma pigmentosum gene D ，XPD）和X线交叉互补修复基因1（X-ray repair cross complementing gene 1，XRCC1）的多态性与肺癌之间的相关性。方法：采用聚合酶链反应-限制性片段长度多态性（polyme-rase chain reaction-restriction fragment length polymorphism ，PCR-RFLP）技术，对150例肺癌患者（肺癌组）以及150例健康志愿者（健康对照组）的XPD-751、XRCC1-399两个多态位点进行基因型分析。结果：肺癌组及健康对照组XPD-751的基因型频率及突变等位基因频率差异有统计学意义（P分别为0．046、0．003）；肺癌组及健康对照组的XRCC1-399基因型频率及突变等位基因频率则差异无统计学意义（P分别为0．395、0．105）。非小细胞肺癌组和小细胞肺癌组XPD-751的突变等位基因频率差异有统计学意义（P＝0．012），鳞癌组、腺癌组及其他类型非小细胞肺癌组XPD-751的突变等位基因频率差异亦有统计学意义（P＝0．023）。吸烟和XPD-751多态性两个危险因素共同存在时，罹患肺癌的相对危险度为2．812（95％ CI：0．956～6．415），P＝0．336。结论：XPD-751基因多态性与肺癌的发生相关，尤其与非小细胞肺癌中的鳞癌关系密切；而XRCC1-399基因多态性则与肺癌的发生无关；吸烟和XPD-751多态性在肺癌的发生中无交互作用。Objective：To investigate the correlation between lung cancer and the polymorphism of xeroderma pigmentosum gene D（XPD） and X-ray repair cross complementing gene 1 （XRCC1） .Methods ：The polymorphisms at loci XPD-751 and XRCC1-399 in 150 patients with lung cancer （lung cancer group） and 150 healthy volunteers （control group） were detected by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） .Results：There were significant differences in XPD-751 genotype frequency and mutant allele frequency between lung cancer group and control group （P= 0 .046 , P=0 .003） ,while XRCC1-399 loci had no significant difference（P=0 .395 ,P=0 .105） between the two groups .There were signif-icant differences in XPD-751 mutant allele frequency between patients with non-small cell lung cancer and patients with small cell lung cancer（P=0 .012） ,as well as among squamous cell carcinoma ,adenocarcinoma and other types of non-small cell lung cancer（P=0 .023） .When smoking and XPD-751 polymorphisms coexisted as risk factors ,the relative risk to lung cancer was 2 .812（95% CI：0 .956-6 .415） ,P=0 .336 .Conclusions ：XPD-751 gene polymorphism was correlated with the occurrence of lung cancer ,especially with squamous cell lung carcinoma ,while XRCC1-399 gene polymorphism was not correlated with lung cancer .There is no interaction between smoking and the polymorphism of XPD-751 in lung cancer .

关 键 词：肺癌 着色性干皮病基因D X线交叉互补修复基因1 

分 类 号：R758.58[医药卫生—皮肤病学与性病学]