亚甲基四氢叶酸还原酶基因多态性与动脉粥样硬化及相关疾病的基因环境交互作用研究进展

Research progress on the gene-environment interaction between methylenetetrahydrofolate reductase genetic polymorphism and atherosclerosis and related diseases

大量研究表明,在普通人群中,即使血浆同型半胱氨酸水平适度升高,也可能促进动脉粥样硬化(atherosclerosis,AS)的发生和发展。5,10-亚甲基四氢叶酸还原酶(5,10-methylenetetrahydrofolate reductase,MTHFR)的基因结构改变使之催化活性减弱,间接导致高同型半胱氨酸血症。然而,MTHFR基因突变与AS导致的相关疾病的关系受多种环境因素的影响,从基因与环境交互作用这一新领域探索AS的发病机制成为近年来的热点话题。本文就MTHFR基因环境交互作用对AS及相关疾病的影响进行综述,旨在为预防因AS导致的缺血性疾病提供新思路。

A large number of studies have shown that in the general population,even if the plasma homocysteine level is moderately elevated,it may also promote the occurrence and development of atherosclerosis(AS).Changes in the gene structure of 5,10-methylenetetrahydrofolate reductase(MTHFR)weaken its catalytic activity,which indirectly leads to hyperhomocysteinemia.However,the relationship between MTHFR gene mutation and AS-related diseases is affected by a variety of environmental factors.Exploring the pathogenesis of AS from the new field of gene-environment interaction has become a hot topic in recent years.This paper reviews the research progress on the effects of MTHFR gene-environment interaction on AS and related diseases at home and abroad,in order to provide new ideas for the prevention of ischemic diseases caused by AS.