急性肠系膜静脉血栓形成与MTHFR基因C677T突变的相关性研究

Study on the association of polymorphisms in methylenetetrahydrofolate reductase with acute mesenteric venous thrombosis

摘要:

目的：探讨亚甲基四氢叶酸还原酶(MTHFR) 基因C677T 突变在急性肠系膜静脉血栓形成(AMVT)发病中的意义。
方法：采用高效液相色谱法测定63例AMVT患者和128名健康对照者血浆的同型半胱氨酸(Hcy)水平, 放射免疫法测定血浆叶酸浓度；应用聚合酶链反应—限制性片段长度多态性方法进行MTHFR C677T 基因多态性分析, 并进行基因型及等位基因频率的计数。
结果：AMVT组和对照组血浆Hcy水平分别为(23.5±8.8) μmol/L和(12.7±6.9) μmol/L, 差异有统计学意义(P＜0.01)。Hcy水平与叶酸呈负相关(AMVT组：r=-0.42, P＜0.01；对照组：r=-0.39, P＜0.01)。MTHFR C677T TT基因型在AMVT组的分布频率为33.3 %, 高于对照组的17.2 %, 差异有统计学意义(χ2=6.31, P＜0.05)。
结论：血浆Hcy水平升高是AMVT形成的危险因素之一。MTHFR C677T多态性中TT基因型可能是AMVT形成的一个重要遗传风险因子。

Abstract:

Objective:To explore the significance of gene mutation of methylenetetrahydrofolate reductase (MTHFR) C677T in the development of acute mesenteric venous thrombosis(AMVT).
:Methods :Sixtythree cases of AMVT (AMVT group) and 128 healthy controls (control group) were recruited in the study. The concentrations of plasma Hcy and folic acid were respectively measured by reverse phase high performance liquid chromatography and radioimmunity method. The polymorphism of MTHFR C677T was detected by PCR-restriction fragment length polymorphism (PCR-RFLP).
:Results:The plasma Hcy level of the AMVT patients was (23.5±8.8) μmol/L,Which differed significantly from that of the controls,Which was (12.7±6.9) μmol/L (P＜0.01). There was obvious negative correlation between the plasma Hcy and folic acid levels (AMVT: r=-0.42, P＜0.01, control: r=-0.39, P＜0.01). The prevalence of TT genotypes of MTHFR (C677T) between AMVT group and normal control group had significant difference (33.3% vs. 17.2%, χ2=6.31, P＜0.05).
:Conclusions:The higher plasma Hcy level might be a risk factor in the onset of AMVT. The homozygote of MTHFR C677T (TT) may be an important risk factor of AMVT.