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目的研究细胞色素P4502E1(CYP2E1)-1239G>C遗传变异与食管癌发病风险的关系。方法采用PCR-RFLP(聚合酶链式反应-限制性片段长度多态性)的方法,分析286例食管癌患者和349名正常对照者的CYP2E1-1239G>C遗传变异各基因型。以多变量Logistic回归计算比值比(OR值)及其95%可信区间(95%CI)以比较CYP2E-1239G>C各基因型与食管癌发病风险的关系。结果与CYP2E1-1239GG基因型携带者相比,至少1个-1239C等位基因的携带者罹患食管癌的风险明显降低(OR=0.58,95%CI=0.41~0.82)。吸烟分层分析显示,-1239G>C变异对食管癌的保护作用只存在于非吸烟人群中。至少携带1个-1239C等位基因者发生食管癌的风险比-1239GG基因型携带者显著降低(OR=0.43,95%CI=0.24~0.78)。结论 CYP2E1-1239 G>C变异是食管癌发病的重要遗传易感因素。
Objective To investigate the relationship between the genetic variation of cytochrome P4502E1 (CYP2E1) -1239G> C and the risk of esophageal cancer. Methods PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) method was used to analyze the genotypes of CYP2E1-1239G> C genetic variation in 286 esophageal cancer patients and 349 normal controls. Multivariate Logistic regression was used to calculate the odds ratio (OR) and its 95% confidence interval (95% CI) to compare the association of CYP2E-1239G> C genotypes with the risk of esophageal cancer. Results Compared with CYP2E1-1239GG genotype carriers, the risk of esophageal cancer was significantly lower in carriers with at least one -1239C allele (OR = 0.58, 95% CI = 0.41-0.82). Stratified smoking analysis showed that the protective effect of -1239G> C mutation on esophageal cancer existed only in non-smokers. Esophageal cancer patients with at least one -1239C allele had a lower risk of developing esophageal cancer than those with -1239GG genotype (OR = 0.43, 95% CI = 0.24-0.78). Conclusion G> C mutation of CYP2E1-1239 is an important predisposing factor for esophageal cancer.