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目的:研究细胞色素P4502E1(CYP2E1)基因RsaⅠ多态性、烟酒习惯与直肠癌遗产易感性的关系。方法:在江苏省进行病例-对照研究(直肠癌患者210例,人群对照439例),调查研究对象的生活习惯,抽取静脉血,提取白细胞DNA,采用PCR-RFLP检测研究对象的CYP2E1RsaⅠ位点基因型。结果:CYP2E1RsaⅠc1/c1、c1/c2和c2/c2基因型分布频度在直肠癌组分别为58.4%、34.0%和7.7%,对照组分别为61.4%、35.6%和3.0%,两组之间差异有显著性(χ2MH=7.07,P=0.029)。在调整性别、年龄、吸烟和饮酒习惯后,CYP2E1c2/c2基因型携带者与c1/c1基因型者相比,发生直肠癌的危险性显著升高(OR=1.64,95%CI:1.12～2.41)。多因素分析结果显示,有饮酒习惯者发生直肠癌的危险性显著升高,其调整后OR为2.08(95%CI:1.36～3.19),而吸烟与增加或降低直肠癌的危险性无显著相关。CYP2E1基因多态与吸烟、饮酒相互作用的分层分析发现,在不吸烟者中,c2/c2基因型者与c1等位基因型者相比,发生直肠癌的危险性显著上升(性别和年龄调整OR=2.30,95%CI:1.32～3.99);在饮酒者中,携带c2/c2基因型者发生直肠癌的调整OR为5.75(95%CI:1.65～20.05),提示CYP2E1RsaⅠ多态与饮酒习惯有显著的协同作用。结论:CYP2E1RsaⅠ基因多态和饮酒习惯影响直肠癌的易感性,二者在直肠癌发生中有显著的协同作用。
Objective: To study the relationship between the RsaI polymorphism of cytochrome P4502E1 (CYP2E1) gene, tobacco and alcohol habits and the susceptibility to rectal cancer inheritance. METHODS: A case-control study (210 patients with rectal cancer and 439 control subjects) was performed in Jiangsu Province. The living habits of the study subjects were investigated. Venous blood was drawn and leukocyte DNA was extracted. The CYP2E1 RsaI site gene was detected by PCR-RFLP. type. Results: The distribution frequencies of CYP2E1RsaIc1/c1, c1/c2, and c2/c2 genotypes were 58.4%, 34.0%, and 7.7% in the rectal cancer group, and 61.4%, 35.6%, and 3.0% in the control group, respectively. The difference was significant (χ2MH=7.07, P=0.029). After adjustment for sex, age, smoking and drinking habits, the risk of rectal cancer was significantly higher in CYP2E1c2/c2 genotype carriers compared with c1/c1 genotypes (OR=1.64, 95% CI: 1.12 to 2.41). ). The results of multivariate analysis showed that the risk of rectal cancer was significantly higher among persons with drinking habits. The adjusted OR was 2.08 (95% CI: 1.36 to 3.19), and smoking was not significantly associated with the risk of increasing or decreasing rectal cancer. . A stratified analysis of the interaction between CYP2E1 polymorphisms and smoking and alcohol use found that among non-smokers, the risk of developing rectal cancer was significantly higher in the c2/c2 genotype compared with the c1 allele (sex and age) Adjusted OR = 2.30, 95% CI: 1.32 ~ 3.99); among alcohol drinkers, the adjusted odds ratio for rectal cancer with c2/c2 genotype was 5.75 (95% CI: 1.65 ~ 20.05), suggesting CYP2E1RsaI polymorphism and drinking Habits have significant synergies. Conclusion: The polymorphisms of CYP2E1RsaI gene and drinking habits influence the susceptibility of rectal cancer, and both have significant synergistic effects in the occurrence of rectal cancer.