MTHFR C677T基因多态性与新疆哈族和汉族食管癌易感性的关系

目的:探讨亚甲基四氢叶酸还原酶(MTHFR) 基因C677T多态性与新疆哈族、汉族食管癌易感性的关系．方法:用PCR-RFLP方法检测食管癌患者178 例(哈萨克族94例,汉族84例)和同一地区无肿瘤病史的正常对照者155例(哈萨克族98例,汉族57例)的MTHFR基因C677T基因型分布．结果:新疆哈族食管癌组中MTHFR C677T 3种基因型CC,CT,TT,所占比例分别是 56．4％,36．2％,7．4％,与新疆汉族食管癌组中的32．9％,40．0％,27．1％相比,存在显著差异(X2=1 5．37,P<0．05);哈族正常对照组分别为58．2％,29．6％,12．2％与汉族正常对照组 22．8％,52．6％,24．6％相比,有显著差异(X2= 18．26,P<0．05)．MTHFR 3种基因型在哈族食管癌组中的分布(CC 56．4％,CT 36．2％and TT 7．4％)与对照组中(CC 22．8％,CT 52．6％and TT 24．6％)相比,无显著差异(X2=1．776,P= 0．412)．在汉族食管癌组与对照组间也无显著差异(X2=2．750,P=0．253)．结论:MTHFR C677T基因多态性分布在新疆哈族、汉族正常对照组间存在民族差异,在食管癌间也存在差异．MTHFR C677T基因多态性可能与新疆哈萨克族与汉族食管癌的易感性无关．

Association of methylenetetrahydrofolate reductase C677T polymorphism with susceptibility to esophageal cancer in Kazakh and Han populations in Xinjiang Uygur Autonomous Region

AIM: To investigate the gene polymorphism of methylenetetrahydrofolate reductase (MTHFR) C677T and its association with susceptibility to esophageal cancer (EC) in Kazakh and Han populations in Xinjiang Uygur Autonomous Region. METHODS: The MTHFR C677T genotypes were detected by a polymerase chain reaction (PCR)-based restriction restriction fragment length polymorphism (RFLP) assay in 179 patients with EC (Kazakh 94, Han 84) and 155 population cancer-free controls (Kazakh 98, Han 57) in Xinjiang of China. RESULTS: The frequencies of CC, CT and TT in MTHFR C677T were 56.4%, 36.2% and 7.4% in Kazakh patients with EC, respectively, which were significantly different from those in Han patients with EC (32.9%, 40.0% and 27.1%) (X2 = 15.37, P < 0.05). The frequencies of CC, CT and TT were 58.2%, 29.6% and 12.2% in Kazakh controls and 22.8%, 52.6% and 24.6% in Han controls, respectively, and there were also significant differences between them (X2=18.26, P < 0.05). The distribution of C677T genotypes was not markedly different between Kazakh EC patients (CC 56.4%, CT 36.2% and TT 7.4%) and controls (CC 22.8%, CT 52.6% and TT 24.6%) (X2 =1.776, P > 0.412), and there was no statistical differences between Han EC patients and controls (X2 = 2.750, P = 0.253), either. CONCLUSION: The polymorphisms of MTHFR C677T are different between Kazakh and Han EC patients as well as normal individuals in Xinjiang. The polymorphisms of MTHFR C677T are not correlated with the susceptibility to EC in Kazakh and Han populations.