亚甲基四氢叶酸还原酶基因多态性与血液透析患者心、脑血管疾病的关系

The relationship between MTHFR gene polymorphism and cardiovascular and cerebrovascular diseases in hemodialysis patients.

目的探讨亚甲基四氢叶酸还原酶(methylenetetrahydrofolatereductase,MTHFR)基因多态性与血液透析(hemodialysis,HD)患者心、脑血管疾病的关系。方法利用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析法检测了首都医科大学附属北京同仁医院肾内科74例HD患者和30例健康者MTHFRC677T基因多态性。结果HD患者中无心、脑血管疾病组平均年龄明显低于有心、脑血管疾病组(P<0.01),而血清肌酐水平明显高于后者(P<0.01)。HD患者中有心、脑血管疾病组MTHFRT等位基因频率为39.6%,明显高于正常对照组的18.3%(P<0.05),亦高于无心、脑血管疾病组的30.0%,但差异无显著性(P>0.05)。有心、脑血管疾病组MTHFR频率为20.8%,高于无心、脑血管疾病组的12.0%和正常对照组的6.7%,但差异均无显著性(P>0.05)。结论本研究尚不能得出MTHFRT/T基因型是血液透析患者发生心、脑血管疾病的一个遗传危险因子。

Objective To investigate the relationship between methylenetetrahydrofolate reductase （MTHFR） gene polymorphism and cardiovascular and cerebrovaseular diseases （CVD） in hemodialysis （HD） patients. MethodsThe technology of polymerase chain reaction restriction fragment length polymorpbism （PCR-RFLP） was used to detect MTHFR gene C677T polymorphism in 74 HD patients and 30 healthy controls. Results Mean age in HD patients without CVD was signifi cantly lower than that in HD patients with CVD. However, mean levels of serum creatinine in HD patients without CVD were significantly higher than that in HD patients with CVD. The frequency of MTHFR T allele in HD patients with CVD was significantly higher than that in healthy controls （39.6% vs. 18.3%, P〈0. 05）. The frequencies of MTHFR T/T genotype among HD patients with CVD, HD patients without CVD and control subjects were 20.8%, 12.0% and 6.7%, respectively. There was no significant difference in the distributions of MTHFR T/T genotype （P〉0. 05）. Conclusion This study can＇ t confirm that MTHFR T/T genotype is one of the genetic risk factors for CVD occurrence in HD patients.