MTHFR C677T 多态性与消化系统癌症及冠心病易感性的关系

摘要

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.%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。