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目的:探讨亚甲基四氢叶酸还原酶(MTHFR)基因1298A→C多态及其和生活习惯相互作用与新疆哈萨克族食管癌风险的关系。方法:收集经组织病理学确诊的哈萨克族食管鳞癌新发病例88例外周血液标本,提取DNA;72名健康哈萨克族人群作为对照,同时调查每个研究对象的吸烟、饮酒情况。用PCR-RFLP技术检测研究对象的MTHFR1298A→C基因多态性。结果:病例组MTHFR1298AA、AC和CC基因型分别为63.64%、34.09%和2.27%,与对照组的72.22%、27.78%和0相比差异无统计学意义,χ2MH=2.57,P=0.276。MTHFR1298AA、MTHFR1298AC基因型与哈萨克族食管癌的发生无显著相关性,P>0.05。病例组与对照组1298C等位基因频率分别为0.19和0.14,两组间差异无统计学意义,P>0.05。与携带MTH-FR1298AA基因型的不吸烟者相比,携带MTH-FR1298C等位基因且有吸烟习惯者的性别、年龄以及饮酒习惯调整OR值为2.353(95%CI为0.892～6.210)。与携带MTHFR1298AA基因型的不饮酒或不常饮酒者相比,携带MTHFR1298C等位基因并伴有经常饮酒的习惯者发生食管癌的危险性也显著增高,其性别、年龄以及饮酒习惯调整OR值为1.860(95%CI为0.585～5.915)。结论:叶酸摄入不足是新疆哈萨克族食管癌的危险因素;MTHFR1298AC和CC基因型对吸烟、饮酒习惯增加食管癌发生风险作用有放大效应。
Objective: To investigate the relationship between the polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene 1298A → C and its lifestyle and the risk of esophageal cancer in Kazakh in Xinjiang. Methods: 88 cases of newly diagnosed cases of esophageal squamous cell carcinoma of the Kazakh who had been diagnosed by histopathology were collected from peripheral blood samples, DNA was extracted and 72 healthy Kazakhs were recruited as controls. Smoking and alcohol consumption of each subjects were also investigated. The MTHFR1298A → C polymorphism of the study subjects was detected by PCR-RFLP. Results: The genotypes of MTHFR1298AA, AC and CC in case group were 63.64%, 34.09% and 2.27% respectively. There was no significant difference between the two groups (χ2MH = 2.57, P = 0.276) and 72.22%, 27.78% and 0 in control group. MTHFR1298AA and MTHFR1298AC genotypes had no significant correlation with the occurrence of Kazakh esophageal cancer (P> 0.05). The frequencies of 1298C alleles in case group and control group were 0.19 and 0.14 respectively, with no significant difference between the two groups (P> 0.05). Compared with non-smokers carrying MTH-FR1298AA genotype, the odds ratio adjusted for gender, age, and drinking habits with MTH-FR1298C alleles and smoking habits was 2.353 (95% CI, 0.892-6.210). The risk of developing esophageal cancer was also significantly increased in habitants with MTHFR1298C allele associated with regular alcohol consumption compared with non-drinkers or non-drinkers with MTHFR1298AA genotype. The adjusted odds ratio (OR) for gender, age, and drinking habits was 1.860 (95% CI 0.585 ~ 5.915). CONCLUSION: Insufficient folate intake is a risk factor for esophageal cancer in Kazak in Xinjiang. MTHFR1298AC and CC genotypes have a magnifying effect on the risk of esophageal cancer by smoking and drinking habits.