The 677 C/T MTHFR polymorphism is associated with essential hypertension, coronary artery disease, and higher homocysteine levels
The 677 C/T MTHFR polymorphism is associated with essential hypertension, coronary artery disease, and higher homocysteine levels
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DOI：
10.1016/j.arcmed.2007.07.009
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发表时间：
2008-01-01
影响因子：
7.7
通讯作者：
Ozbay, Yilmaz
中科院分区：
文献类型：
--
作者：
Ilhan, Nevin;Kucuksu, Mehmet;Ozbay, Yilmaz
背景。原发性高血压（EH）和心血管疾病是常见的多因素疾病，可能受多种基因的影响，影响不大。C677T亚甲基四氢叶酸还原酶（MTHFR）基因多态性与MTHFR酶活性和血浆同型半胱氨酸（Hcy）浓度有关。本研究旨在探讨这种多态性与冠状动脉疾病（CAD）、EH和健康受试者的关系。在本研究中，我们测定了78例原发性高血压患者、100例冠状动脉疾病患者和100名健康受试者的血清叶酸、血清维生素B12和血浆同型半胱氨酸，并测定了MTHFR C677T基因型。实时聚合酶链反应检测MTHFR基因型。在CAD患者中，CC、CT和TT基因型频率分别为52.0%、44.0%和4.0%。在原发性高血压患者中，CC、CT和TT基因型频率分别为46.2、41.0和12.8%。在对照组中，CC、CT和TT基因型频率分别为72.0、26.0%和2.0%。与EH患者相比，C等位基因在对照组中明显更常见(p
Background. Essential hypertension (EH) and cardiovascular disease are common, multifactorial disorders likely to be influenced by multiple genes of modest effect. The C677T methylenetetrahydrofolate reductase (MTHFR) gene polymorphism is related to MTHFR enzyme activity and to plasma homocysteine (Hcy) concentration. This study was designed to investigate an association of this polymorphism with coronary artery disease (CAD), EH, and healthy subjects.Methods. In this study, we measured serum folate, serum vitamin B12, and plasma homocysteine and determined the MTHFR C677T genotype of 78 patients with essential hypertension, 100 patients with coronary artery disease, and 100 healthy subjects. MTHFR genotypes were assessed by real-time polymerase chain reaction.Results. CC, CT, and TT genotype frequencies were 52, 44.0, and 4.0% in patients with CAD, respectively. In patients with essential hypertension, the CC, CT, and TT genotype frequencies were 46.2, 41.0, and 12.8%, respectively. In control subjects, the CC, CT, and TT genotype frequencies were 72.0, 26.0, and 2.0%, respectively. The C allele was significantly more frequent in controls compared with patients with EH (p