Ilhan Nevin, Kucuksu Mehmet, Kaman Dilara, Ilhan Necip, Ozbay Yilmaz
Department of Biochemistry, Firat Universty Medical Center, Elazig, Turkey.
Arch Med Res. 2008 Jan;39(1):125-30. doi: 10.1016/j.arcmed.2007.07.009. Epub 2007 Oct 15.
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.
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.
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<0.05), and CC genotypes were more frequent in controls compared to patients with EH and CAD. Homocysteine level was higher in TT genotypes in CAD patients compared with CC and CT genotypes (p<0.01). MTHFR gene polymorphism is an independent risk factor for EH but not for CAD.
The TT genotype of the 677C/T MTHFR polymorphism is associated with EH and CAD. In addition, TT genotypes had higher plasma Hcy levels in CAD patients compared with CC and CT genotypes. MTHFR gene polymorphism is an independent risk factor for EH but not for CAD.
原发性高血压（EH）和心血管疾病是常见的多因素疾病，可能受多个效应中等的基因影响。C677T亚甲基四氢叶酸还原酶（MTHFR）基因多态性与MTHFR酶活性及血浆同型半胱氨酸（Hcy）浓度有关。本研究旨在调查这种多态性与冠状动脉疾病（CAD）、EH及健康受试者之间的关联。
在本研究中，我们测量了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及血浆同型半胱氨酸，并确定了MTHFR C677T基因型。通过实时聚合酶链反应评估MTHFR基因型。
CAD患者中CC、CT和TT基因型频率分别为52%、44.0%和4.0%。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，对照组中C等位基因频率显著更高（p<0.05），与EH和CAD患者相比，对照组中CC基因型频率更高。CAD患者中TT基因型的同型半胱氨酸水平高于CC和CT基因型（p<0.01）。MTHFR基因多态性是EH的独立危险因素，但不是CAD的独立危险因素。
677C/T MTHFR多态性的TT基因型与EH和CAD有关。此外，与CC和CT基因型相比，CAD患者中TT基因型的血浆Hcy水平更高。MTHFR基因多态性是EH的独立危险因素，但不是CAD的独立危险因素。
