CYP2D6基因G4268C和ERCC1基因C8092A位点的单核苷酸多态性与肺癌遗传易感性

目的：探讨辽宁地区CYP2D6基因G4268C和ERCC1基因C8092A位点的单核苷酸多态性对肺癌发生的影响。方法：采用病例-对照研究方法,选取肺癌患者和健康对照者各200例。应用KI法快速抽提人外周血基因组DNA,PCR-RFLP的方法检测CYP2D6基因G4268C和ERCC1基因C8092A位点的单核苷酸多态性。结果：G4268/G、G4268/C和C4268/C这3种基因型在病例和对照组的分布频率分别为1.50%、58.00%、40.50%和2.50%、44.00%、53.50%,非C4268/C基因型的个体发生肺癌的风险是C4268/C基因型个体的1.73倍（95%CI=1.02-2.95）,在腺癌中OR=2.75（95%CI=1.27-5.94）;按吸烟情况进行分层分析后发现不吸烟者及轻度吸烟者中携带非C4268/C基因型的个体患肺癌的风险显著增高,OR值为2.09（95%CI=1.09-4.25）和3.41（95%CI=1.24-9.93）;非A8092/A基因型的个体发生肺癌的风险是A8092/A基因型个体的0.98倍（95%CI=0.52-2.17）。结论：C4268/C基因型在不吸烟者和轻度吸烟者中可能作为保护因素而降低肺癌的易感性,ERCC1 C8092A多态性与肺癌易感性无相关性。

Single nucleotide polymorphysims of CYP2D6 gene G4268C and ERCC1 gene C8092A and their genetic susceptibility to lung cancer

Objective：To evaluate the impact of single nucleotide polymorphysims of CYP2D6 gene G4268C and ERCC1 gene C8092A on the lung cancer occurrence in Liaoning province.Methods：A case-control study was conducted included 200 lung cancer patients and 200 control subjects.KI method was used to isolate human genomic DNA from whole blood.PCR-RFLP was used to identify CYP2D6 gene G4268C,C188T and ERCC1 gene C8092A genotyes of polymorphysims.Results：The distribution frequency of G4268/G,G4268/C and C4268/C were 1.50%,58.00%,40.50% in lung cancer group and 2.50%,44.00%,53.50% in control group.The individuals who carried non-C4268/C genotype had a 1.73-fold increased risk with lung cancer than those who carried C4268/C genotype（95%CI=1.02-2.95）,especially to lung adenocarcinoma OR=2.75（95%CI=1.27-5.94）].After stratification analysis according to smoking,it revealed that non-C4268/C genotype was associated with significantly increased risk in non-smokers and light-smokers subgroups,with OR=2.09（95%CI=1.09-4.25） and 3.41（95%CI=1.24-9.93）respectively.The individuals who carried non-A8092/A genotype had a 0.98-fold increased risk with lung cancer than those who carried A8092/A genotype（95%CI=0.52-2.17）.Conclusion：C4268/C genotype,as protective factors in non-smokers of light-smokers subgroups,may help decreasing the susceptibility to lung cancer subjects.ERCC1 gene C8092A polymorphysim had no association with lung cancer.