MTHFR C677T位基因多态性及血浆同型半胱氨酸与冠心病心力衰竭的研究进展  

Research progress of MTHFR C677T polymorphism and plasma homocysteine level with coronary heart diseases patients with heart failure

作　　者：张建武[1] 陈亮 

机构地区：[1]山东省潍坊市妇幼保健院内科,山东潍坊261011 [2]山东省潍坊中西医结合医院保健中心,山东潍坊261041

出　　处：《中国医药导报》2017年第21期50-52,65,共4页China Medical Herald

基　　金：山东省医药卫生科技发展计划项目(2013WS0047)

摘　　要：亚甲基四氢叶酸还原酶(MTHFR)基因存在多种突变位点,其中以C677T最为常见。MTHFR基因突变造成酶活性和耐热性降低,导致高同型半胱氨酸血症。同型半型氨酸(Hcy)是冠心病发病的独立危险因子。近年来研究发现心力衰竭患者中血浆Hcy水平明显升高,并且随着心功能分级增加Hcy水平也增加。本文对国内外目前MTHFR C677T位基因多态性及Hcy与冠心病心力衰竭关系的研究情况进行综述。There are many kinds of mutation sites in methylenetetrahydrofolate reductase （MTHFR） gene, among which, C677T is the most common one. MTHFR gene mutation causes the decrease of enzyme activity and heat resis- tance, causes hyperhomocysteinemia. Homocysteine （Hcy） is an independent risk factor for coronary heart diseases. The average level of Hcy is higher in patients with heart failure. Hcy level increases gradually as the cardiac function dete- riorates. This paper reviews the research progress of MTHFR C677T polymorphism and plasma Hcy level with coronary heart diseases patients with heart failure.

关 键 词：亚甲基四氢叶酸还原酶 基因多态性 同型半胱氨酸 冠心病 心力衰竭 

分 类 号：R541.61[医药卫生—心血管疾病]