亚甲基四氢叶酸还原酶基因多态性作为冠状动脉疾病的一个危险因素
Methylenetetrahydrofolate Reductase Gene Polymorphism as a Risk Factor for Coronary Artery Disease.
作者信息
Sowndarya K, Manjrekar Poornima A, Shenoy Ramya, Hegde Anupama
机构信息
Department of Biochemistry, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka 575004 India.
Department of Public Health Dentistry, Manipal College of Dental Sciences, Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka India.
出版信息
Indian J Clin Biochem. 2025 Jan;40(1):25-31. doi: 10.1007/s12291-023-01162-z. Epub 2023 Nov 23.
Hyperhomocysteinemia (HHcy) is one of the factors contributing to the pathogenesis of coronary artery disease (CAD). Besides nutritional deficiency disorders, genetic polymorphism predominantly related to point mutation in the gene coding for Methylenetetrahydrofolate reductase (MTHFR), a key enzyme in the metabolism methionine-homocysteine (Hcy) has been implicated in HHcy. PubMed survey related to MTHFR gene polymorphism in CAD retrieved 143 articles from which 20 were selected in which MTHFR gene polymorphism and Hcy were estimated. The selected studies had estimated either MTHFRC677T or A1298C or both. All the studies detected presence of MTHFRC677T in CAD. Hcy levels were found to range from normal to HHcy with debatable association to CAD.
高同型半胱氨酸血症（HHcy）是导致冠状动脉疾病（CAD）发病的因素之一。除营养缺乏性疾病外，主要与编码亚甲基四氢叶酸还原酶（MTHFR）的基因突变相关的基因多态性也与HHcy有关，MTHFR是甲硫氨酸-同型半胱氨酸（Hcy）代谢中的关键酶。对CAD中MTHFR基因多态性的PubMed调查检索到143篇文章，从中选择了20篇对MTHFR基因多态性和Hcy进行评估的文章。所选研究评估了MTHFRC677T或A1298C或两者。所有研究均在CAD中检测到MTHFRC677T的存在。Hcy水平从正常到HHcy不等，与CAD的关联存在争议。
Zotero 插件