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

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。

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

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.