MTHFR基因多态性及同型半胱氨酸与维吾尔族人群静脉血栓栓塞症的相关性研究

Correlation between methylenetetrahydrofolate reductase gene polymorphisms and plasma homocysteine level in Uyghur patients with venous thromboembolism

目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T位点突变及同型半胱氨酸(Hcy)水平与维吾尔族静脉血栓栓塞症(VTE)发生的关系。方法选择2008年1月-2012年12月在新疆医科大学第一附属医院住院的维吾尔族VTE患者94例(VTE组),健康对照组86例;采用聚合酶链反应-限制性片段长度多态性(PCR-PFLP)技术检测MTHFR基因C677T多态性,应用酶循环法检测血浆Hcy水平,分析Hcy及MTHFR基因C677T多态性与VTE的关联性。结果 VTE组与健康对照组MTHFR基因C677T突变位点基因型分布和各等位基因频率比较差异均有统计学意义(P均<0.05);VTE组血浆Hcy水平高于健康对照组,差异有统计学意义(P<0.05)。VTE组677TT基因型者血浆Hcy水平高于CC和CT基因型,差异有统计学意义(P均<0.05)。结论 MTHFR基因C677T基因多态性及血浆Hcy水平可能与维吾尔族人群VTE的发生有关。

Objective To investigate the methylenetetrahydrofolate reductase （MTHFR）gene C677T mu-tation and plasma homocysteine （Hcy）levels in Uygur patients with venous thromboembolism （VTE）in Xinjiang.Methods 94 Uygur cases diagnosed with VTE were admitted by the First Affiliated Hospital of Xinjiang Medical University between January 2008 and December 2012,and 86 Uygur were studied as con-trols.Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）was applied to detect the polymorphism of MTHFR gene C677T,and fluorescence polarization immunoassay was adopted to determine the plasma levels Hcy,and the association of the polymorphism of MTHFR and Hcy with VTE was analyzed.Results The genotype distribution of MTHFR C677T and the frequency of alleles were significantly different in VTE and control group （P all＆lt;0.05）.The plasma Hcy levels were higher in the VTE group compared with those in the control group （P ＆lt;0.05）.Plasma levels of Hcy in MTHFR gene TT genotype were statistically higher than CT and CC genotype （P ＆lt;0.05）.Conclusion The MTH-FR gene C677T mutations and levels of Hcy may be associated with VTE in Uygur population.