摘要
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 determine whether genetic polymorphisms in methylenetetrahydrofolate reductase （MTHFR A1298C） are associated with the risk of Kazakh＇s esophageal cancer. METHODS： A hospital based, case-control study consisting 88 incident Kazakh＇s esophageal squamous carcinoma cases and 72 controls matched on age, sex and race was conducted to investigate the association between polymorphism in MTHFR and susceptibility to Kazakh＇s esophageal cancer. Genotypes of MTHFR A1298C were analyzed by polymerase chain reasction-restriction fragment length polymorphism methods. RESULTS： The frequencies of MTHFR1298AA, AC andCC genotypes were 63.64%, 34.09% and 2.27% in Kazakh＇s EC and 72.22%, 27.78% and 0 in the control group, respectively, χ^2Mn=2. 57, P=0. 276. MTHFR 1298AA genotype and MTHFR 1298AC had no relevance to Kazakh＇s EC, P〉0. 05. The frequencies of allele gene of MTHFR 1298C were 0.14 and 0.19 in the control group and esophageal cancer group respectively, P 〉 0. 05. Individuals having MEHFR 1298C allele and smoking habit were at a significantly higher risk of developing EC （adjusted OR=2. 353, 95% CI：0. 892-- 6. 210） compared with those who having AA genotype but no smoking habit. Individuals having MEHFR 1298C allele and habit of frequent alcohol drinking were at an increased risk of developing EC （adjusted OR = 1. 860, 95% CI： 0.585 -- 5. 915）. CONCLUSIONS： It is probable that the high incidence of Kazakh esophageal cancer has close relationship with low in take of folacin. MTHFR1298AC and CC genotypes can en hance the effect of drinkers and smokers to EC.
出处
《中华肿瘤防治杂志》
CAS
2008年第17期1294-1297,共4页
Chinese Journal of Cancer Prevention and Treatment
基金
国家自然科学基金(30260049)
关键词
食管肿瘤/遗传学
基因
亚甲基因氢叶酸还原酶/遗传学
多态现象
遗传
esophageal neoplasms/genetics
genes
methylenetetrahydrofolate reductase （ NADPH 2）/eene＇tics
polymorphism,genetic
