XPD和XPC基因多态性与广东地区汉族人群喉癌遗传易感性研究

The association between genetic polymorphisms of DNA repair genes XPD,XPC and susceptibility to laryngeal carcinoma

目的:探讨DNA修复基因XPD(751Lys/Gln多态)、XPC(PAT多态)基因多态性与广东地区汉族人群喉癌遗传易感性的关系。方法:采用病例-对照研究的方法,运用PCR及PCR-RFLP、基因测序等技术检测233例广东地区汉族人群喉癌和102例健康对照组外周血中XPD(751Lys/Gln多态)、XPC(PAT多态)基因的多态性。分析DNA修复基因XPD(751Lys/Gln多态)、XPC(PAT多态)基因多态性与喉癌临床病理特征之间的关系。采用统计软件SPSS13.0处理数据,用Logistic回归模型进行因素间的相关检验,以OR值及其95%CI表示关联强度。结果:233例喉癌患者中XPD各基因型与对照组基因型频率总体分布差异无统计学意义(χ2=0.28)。分层分析结果显示,携带杂合突变型(Lys/Gln)、纯合突变型(Gln/Gln)的个体,其患喉癌的风险分别增加0.88、1.04倍,差异无统计学意义。233例喉癌患者中XPC各基因型PAT-/-(SS)、PAT+/-(SL)、PAT+/+(LL)与对照组XPC基因型频率总体分布差异无统计学意义(χ2=2.85)。分层分析结果显示,携带XPC PAT+/-(SL)、PAT+/+(LL)的个体,其患喉癌的风险分别增加1.65、1.14倍,差异无统计学意义。结论:XPC、XPD基因多态性可能与喉癌的遗传易感性无关。

Objective： To analyze the association between genetic polymorphisms of DNA repair genes of XPD （751 Lys/Gln）, XPC（PAT）and susceptibility to laryngeal carcinoma. To explore the effect between DNA repair genes of XPD（751 Lys/Gln）,XPC（PAT） and carcinogenesis of LSCC（laryngeal squamous cell carcinoma）. Metllod..A case-control study was conducted involving 233 LSCC patients and 102 healthy controls to investigate the association between polymorphisms of XPD（751 Lys/Gln）, XPC （PAT） and LSCC. All blood samples of the H an people from the Guang Dong Zone was analysze with methods of PCR, PCR-RFLP, ASA and the technique of checking DNA sequencing with sequenator. We explored the association between polymorphisms and the clinical pathologic characteristic of LSCC. The data was compute with SPSS13.0. Odds Ratios（ORs） with 95 % CI for relevancy intensity were calculated using binary logistic regression analysis. Reult： There is no difference of the frequency of XPC-PAT and XPD（751 Lys/Gln） genotype between in LSCC and in healthy contradistinguish（P〈 0.05）. Conclusion： There may be no association between the susceptibility to laryngeal carcinoma and the genotype of XPC-PAT and XPD（751 Lys/Gln）.