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目的:研究亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因C677T、A1298C多态性与结直肠癌易感性的关系。方法:在江苏省进行了一个病例-对照研究(结直肠癌患者315例,人群对照371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MTHFR C677T、A1298C基因型。结果:1)男女合计的结直肠癌组、结肠癌组和直肠癌组与对照组之间的MTHFR C677T、A1298C基因型分布频度和等位基因频度差异无统计学意义,MTHFR C677T、A1298C基因多态与结直肠癌、结肠癌和直肠癌的易感性无显著相关。2)在男性中,结肠癌组MTHFR C677T T/T基因型的频度为24.6%,明显高于对照组的14.8%,但差异无统计学意义,χ2=3.42,P=0.064。与C677T C等位基因携带者相比,T/T基因型者发生结肠癌的危险性显著升高,其性别、年龄、居住地区及吸烟、饮酒和饮茶习惯调整后的OR为2.15(95%CI:1.07~4.33)。与同时携带MTHFR C677T C等位基因和A1298C A/A基因型者相比,男性的MTHFR C677T T/T和A1298C A/A基因型携带者发生结肠癌的危险性显著升高,其调整OR为2.64(95%CI:1.20~5.81),而他们发生直肠癌的危险性则明显降低,(调整OR=0.47,95%CI:0.22~1.03)。结论:MTHFR C677T基因多态可以影响男性结、直肠癌的易感性,MTHFR A1298C多态与C677T多态在对男性结、直肠癌易感性的影响中有协同作用。
Objective: To investigate the relationship between methylenetetrahydrofolate reductase (MTHFR) gene C677T and A1298C polymorphisms and susceptibility to colorectal cancer. Methods: A case-control study (315 colorectal cancer patients, 371 cohorts) was conducted in Jiangsu Province. The living habits of the subjects were studied, venous blood was drawn, leukocyte DNA was extracted, and MTHFR C677T, A1298C genotype. Results: 1) There was no significant difference in the frequencies of MTHFR C677T and A1298C genotypes between the male and female colorectal cancer group, colon cancer group and rectal cancer group and the control group, and the frequencies of allele MTHFR C677T, A1298C There was no significant correlation between genetic polymorphisms and susceptibility to colorectal, colon and rectal cancers. 2) In MNCs, the frequency of MTHFR C677T T / T genotype was 24.6% in colon cancer group, which was significantly higher than that in control group (14.8%), but the difference was not statistically significant (χ2 = 3.42, P = 0.064). The risk of developing colon cancer was significantly higher in the T / T genotype than in the C677T C allele, adjusted for gender, age, place of residence, and smoking, drinking, and drinking habits as 2.15 (95 % CI: 1.07 ~ 4.33). Men with MTHFR C677T T / T and A1298C A / A genotypes had a significantly increased risk of colon cancer compared with those with the MTHFR C677T C allele and A1298C A / A genotypes and adjusted for OR 2.64 (95% CI: 1.20-5.81), while their risk of rectal cancer was significantly lower (adjusted OR = 0.47, 95% CI: 0.22 to 1.03). CONCLUSION: MTHFR C677T gene polymorphism can affect the susceptibility of male patients with colorectal cancer. The polymorphism of MTHFR A1298C and C677T polymorphism have a synergistic effect on the susceptibility of male patients with colorectal cancer.