ERCC1基因C8092A多态性与肺癌遗传易感性的关联研究

Association between ERCC1 C8092A polymorphism and genetic susceptibility to lung cancer

目的研究ERCC1基因C8092A位点多态性与肺癌遗传易感性的关联,筛查肺癌遗传易感性的标志物。方法采用病例对照研究的方法,选取264例肺癌患者为病例组,264例非肺癌患者为对照组。采用质谱法检测ERCC1基因C8092A位点的多态性,对照组进行Hardy-Weinberg遗传平衡定律检验。采用χ^(2)检验比较ERCC1基因C8092A位点SNP在病例组和对照组之间频率分布差异,多因素Logistic回归分析得到校正后的比值比(OR)、95%的置信区间(CI)。结果携带ERCC1基因C8092A位点CA基因型个体的肺癌遗传易感性降低(CA vs CC,OR=0.380,95%CI:0.267~0.541,P<0.001),差异有统计学意义。校正混杂因素年龄、性别、吸烟、饮酒后,CA基因型患肺癌的风险仍较低(校正OR=0.380,95%CI:0.262~0.538,P<0.001),差异有统计学意义。分层分析显示在≥61岁年龄组,无论性别、吸烟与否、饮酒与否,与CC基因型比较,CA基因型患肺癌的风险均降低,差异有统计学意义(P<0.05)。结论ERCC1基因C8092A位点单核苷酸多态性(SNP)与肺癌遗传易感性有关,与CC基因型相比,CA基因型人群患肺癌的风险较低。

Objective To study the association between ERCC1 C8092A polymorphism and genetic susceptibility to lung cancer,and to screen the markers of genetic susceptibility to lung cancer.Methods A case-control study was used to select 264 cases of lung cancer as the case group,and 264 cases of non-lung cancer patients as the control group.Mass spectrometry was used to detect the polymorphism of the ERCC1 gene at C8092A.The control group was tested by the Hardy-Weinberg law of genetic balance.The frequency distribution of ERCC1 C8092A SNP between the case group and the control group was analyzed by theχ^(2) test.Multivariate Logistic regression analysis was used to calculate the corrected odds ratio(OR)and 95%confidence interval(CI).Results Genetic susceptibility to lung cancer in individuals carrying the CA genotype of ERCC1 C8092A had low susceptibility(CA vs CC,OR=0.380,95%CI:0.267~0.541,P<0.001).After adjusting for confounding factors such as age,gender,smoking and drinking,polymorphism of ERCC1 C8092A was still associated with genetic susceptibility to lung cancer.Compared with the CC genotype,the risk of lung cancer with the CA genotype reduced(adjusted OR=0.380,95%CI:0.262~0.538,P<0.001).Stratified analysis found that in the age group≥61 years old,regardless of gender,smoking or drinking,compared with CC genotype,the risk of lung cancer of CA genotype also reduced,and the difference was statistically significant(P<0.05).Conclusion ERCC1 C8092A SNP is related to the genetic susceptibility to lung cancer.The CA population has a lower risk of developing lung cancer.