Advances in methylenetetrahydrofolate reductase gene polymorphisms studies
10.3760/cma.j.issn.1009-9158.2016.07.018
- VernacularTitle:亚甲基四氢叶酸还原酶基因多态性研究进展
- Author:
Xiaoying ZHANG
;
Jue ZHANG
- Publication Type:Journal Article
- Keywords:
Methylenetetrahydrofolate reductase;
Polymorphism,genetic;
Folic acid;
Homocysteine;
DNA methylation
- From:
Chinese Journal of Laboratory Medicine
2016;39(7):544-547
- CountryChina
- Language:Chinese
-
Abstract:
Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that plays a critical role in the folate and homocysteine metabolism.MTHFR mutation leads to decreased 5-methylenetetrahydrofolate synthesis.Consequently, it influences the conversion of homocysteine to methionine causing homocysteine accumulation.Homocysteine has been considered as an independent risk factor for a variety of diseases such as cardiovascular diseases , neurological and psychiatric disorders as well as cancers .The study on the correlation between methylenetetrahydrofolate reductase gene polymorphisms and diseases and the discovery of its clinical value is getting more and more attention.