亚甲基四氢叶酸还原酶基因C677T多态性与原发性高血压患者动脉顺应性的关系

目的研究亚甲基四氢叶酸还原酶基因C677T多态性与原发性高血压及动脉顺应性的关系。方法对695例原发性高血压患者和509例年龄匹配的正常对照者采用聚合酶链反应和限制片长多态性分析方法进行基因多态性分析,电泳判断基因型及测序,并测定颈动脉—桡动脉脉搏波速度和颈动脉—股动脉脉搏波速度。结果高血压组TT基因型频率和T等位基因频率显著高于正常对照组(26.5%比20.6%及48.7%比42.4%,P=0.015和0.002)。T等位基因携带者的颈动脉—股动脉脉搏波速度显著高于CC基因型者(P<0.05),高血压组颈动脉—桡动脉脉搏波速度在T等位基因携带者也显著高于CC基因型者(P=0.001)。携带T等位基因的高血压患者颈动脉—股动脉脉搏波速度及非单纯收缩期高血压患者颈动脉—桡动脉脉搏波速度均显著高于CC基因型者(P<0.05)。结论亚甲基四氢叶酸还原酶基因C677T多态性可能与原发性高血压发病危险性增加有关,并且677T等位基因可能是高血压动脉硬化的遗传因素。

The Relationships Between Methylenetetrahydrofolate Reductase Gene C677T Polymorphism and Arterial Compliance in Patients with Essential Hypertension

Aim To study the relationships of methylenetetrahydrofolate reductase(MTHFR) gene C677T polymorphism with essential hypertension and arterial compliance. Methods Genotype of MTHFR gene C677T polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) analysis and characterized by electrophoresis and sequencing in 695 patients with essential hypertension and 509 age-matched normal controls.Carotid-radial pulse wave velocity(C-R PWV) and carotid-femoral pulse wave velocity(C-F PWV) was performed. Results In essential hypertension group,the frequencies of TT genotype and T allele were significantly higher than those of control group(26.5% vs 20.6% and 48.7% vs 42.4%,P=0.015 and 0.002).The C-F PWV of people with T allele was markedly higher than that of people with CC genotype(P<0.05),and the C-R PWV of hypertensive patients with T allele was also higher than that of with CC genotype(P=0.001).The C-F PWV of isolated systolic hypertension(ISH) patients with T allele and the C-R PWV and C-F PWV of no isolated systolic hypertension(NISH) patients with T allele were significantly higher than those of patients with CC genotype(P<0.05). Conclusion MTHFR C677T gene polymorphism may be related to increased risk of essential hypertension,and the 677T allele in MTHFR may be a genetic factor of arterial stiffness in hypertensive patients.