亚甲基四氢叶酸还原酶基因多态性和疾病易感性之间的关系

Relationship between 5,10-methylenetetrahydrofolate reductase gene polymorphism and disease susceptibility

亚甲基四氢叶酸还原酶(5,10-methylenetetrahydrofolate reductase,MTHFR)是叶酸和同型半胱氨酸代谢途径的关键酶。MTHFR基因677C>T和1298A>C单核苷酸多态性(single nucleotide polymorphism,SNP)和多种疾病相关,例如会加速动脉粥样硬化和血栓栓塞事件发生,引发心血管疾病;影响同型半胱氨酸的排泄,引起高胱氨酸尿症;减低循环中叶酸水平,升高同型半胱氨酸水平,引起神经毒性和血管毒性作用;影响孕妇叶酸的有效摄入,增加先天性神经管缺陷发生风险等。本文就MTHFR基因SNP和疾病发生之间的易感性,以及在药物基因组学中的研究进展进行综述。

5,10-methylenetetrahydrofolate reductase(MTHFR)is a key enzyme in the folate and homocysteine metabolic pathways.MTHFR 677C>T and 1298A>C polymorphisms are associated with a variety of diseases,eg.MTHFR may accelerate the occurrence of atherosclerosis and thromboembolic events,and therefore may cause cardiovascular disease;it may affect the excretion of homocysteine,and therefore may cause hypercystinuria;it may reduce circulating folic acid levels and raise homocysteine levels,as well as increase neurotoxicity and vascular toxicity;it may affect the effective intake of folic acid in pregnant women and increase the risk of congenital neural tube defects.This article aims to review the association between MTHFR gene SNPs and disease occurrence,as well as research progress in pharmacogenomics.