MTHFR C677T多态性与消化系统癌症及冠心病易感性的关系

Relationship between MTHFR C677T Polymorphisms and Susceptibility of Digestive System Cancer and Coronary Heart Disease

目的:探讨浙江地区汉族人群亚甲基四氢叶酸还原酶(MTHFR)C677T位点多态性与癌症及冠心病易感性的关系。方法:选取确诊的消化系统癌症(包括胃癌、结肠癌、直肠癌及食管癌)患者、冠心病患者以及健康体检者各100例的全血标本,提取血基因组DNA,采用Real-time PCR和测序两种方法检测MTHFR位点的基因多态性。结果:癌症组的MTHFR基因野生型C/C、杂合基因型C/T及纯合变异型T/T的基因型频率分别为34%、46%和20%,冠心病组为32%、53%和15%,健康对照组为34%、54%和12%。与正常对照组相比,消化系统癌症或冠心病患者MTHFR C677T各基因型的分布均无显著性差异(P>0.05)。结论:在浙江地区人群中,未发现MTHFR基因C677T多态性与消化系统癌症或冠心病的易感性存在显著相关性。

Objective：To investigate the relationship between methylenetetrahydrofolate reductase （ MTHFR） C677T polymorphism and the susceptibility of digestive system cancer （ DSC ） and coronary heart disease （ CHD ） in Zhejiang Han nationality population.Methods：Blood samples from 100 DSC patients （ DSC group） , 100 CHD patients（ CHD group） and 100 healthy controls（ control group） were collected for the extraction of genomic DNA.TaqMan real-time PCR and Sanger sequencing Genotyping were used to detect MTHFR C677T polymorphisms.Results： The MTHFR C677T frequencies of CC, CT, and TT genotypes were 34%, 46%and 20% in DSC group, 32%, 53% and 15% in CHD group, and 34%, 54% and 12% in the control group, respectively.There were no significant differences in MTHFR C677T genotype and allele frequency between DSC or CHD patients and normal controls （ P 〉0.05 ） .Conclusion： No significant correlations are found between MTHFR C677T polymorphism and the susceptibility of DSC and CHD in Zhejiang Han nationality population.