高同型半胱氨酸血症患者MTHFR基因多态性分布及与高血压的关系

Polymorphism distribution of MTHFR gene in patients with hyperhomocysteinemia and its relationship with hypertension

  • 摘要: 目的 研究高同型半胱氨酸血症(hyperhomocysteinemia,HHcy)患者亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因多态性分布及与高血压的关系。方法 入选2017年1-11月于我中心心血管内科就诊患者187例,其中HHcy患者(HHcy组)69例,同型半胱氨酸正常者(Nor-Hcy组)118例。采用聚合酶链反应(PCR)-芯片杂交技术检测MTHFR基因多态性,分析两组患者MTHFR基因型分布,及C677T突变对HHcy和高血压患病率的影响。结果 与Nor-Hcy组相比,HHcy组男性居多(88.4% vs 72.9%,P=0.012),高血压患病率显著增加(85.5% vs 73.7%,P<0.05)。HHcy组MTHFR基因型中TT组合最为多见,显著高于Nor-Hcy组(73.9% vs 22.0%,P=0.043),t携带者比例显著增加(84.78% vs 50.0%,P=0.000)。H型高血压(即高血压合并HHcy)患者中TT组合及t携带者较非H型高血压患者显著增多(P均<0.05);CT+TT基因型在H型高血压患者中发生比例较非H型高血压显著增多。与CC型相比,CT+TT基因型患HHcy的OR为6.22,患H型高血压的OR为5.57。结论 MTHFR基因C677T位点的CT+TT突变与HHcy及H型高血压患病相关。

     

    Abstract: Objective To study the polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene and its relationship with hypertension. Methods From January to November in 2017,187 patients received cardiovascular medical treatment in our center,including 69 cases of hyperhomocysteinemia (HHcy group) and 118 cases with normal blood homocysteine (Nor-Hcy group),were enrolled in this study.The MTHFR gene polymorphism was detected by polymerase chain reaction (PCR)-chip hybridization technique,and the genotype distribution of MTHFR and the association of C677T mutation with occurrence of HHcy and hypertension were analyzed. Results Compared with the Nor-Hcy group,the HHcy group had more male patients (88.4% vs 72.9%,P=0.012) and higher prevalence of hypertension (85.5% vs 73.7%,P=0.043).TT was the most common genotype of MTHFR in the HHcy group,and it was significantly higher than that of the Nor-Hcy group (73.9% vs 22.0%,P<0.001),and so was the proportion of t carriers (84.78% vs 50.0%,P<0.001).Moreover,proportions of TT genotype and t carrier were significantly higher in patients with H-type hypertension (hypertension combined with HHcy) compared with the non H-type hypertension group (P<0.001).Theproportion of CT+TT genotypes in patients with H-type hypertension was significantly higher than that in the non H-type hyper-tension group,which might increase the risk of HHcy (odds ration,OR=6.22) and H-type hypertension (OR=5.57). Conclusion CT+TT mutations in the C677T loci of the MTHFR gene is associated with higher risk of HHcy and H-type hypertension.

     

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