MTHFR、MTRR基因多态性与血脂水平 研究进展

Research Progress on MTHFR, MTRR Gene Polymorphisms and Blood Lipid Levels

摘要: 血脂异常是心脑血管病的重要危险因素，由于其较高的患病率，已成为世界范围内的严重公共卫生问题。血脂异常的病因很复杂，目前普遍认为血脂浓度主要受遗传和环境因素及其他相互作用的影响。同型半胱氨酸代谢关键酶基因：亚甲基四氢叶酸还原酶(MTHFR)和甲硫氨酸合成酶还原酶(MTRR)，二者基因多态性是影响血浆同型半胱氨酸水平的重要遗传因素。高同型半胱氨酸血症与卒中及其他血管性疾病的发生风险增高明显相关，而血脂异常是动脉粥样硬化的核心病理基础。近些年，很多学者研究了MTHFR及MTRR多态性位点与血脂之间的相关性，但结果尚无定论，不同人群结果差异明显。本文旨在系统梳理国内外相关研究，从分子生物学机制、流行病学关联证据、基因–环境交互作用以及研究争议与局限等方面进行综述。

Abstract: Dyslipidemia is an important risk factor for cardiovascular and cerebrovascular diseases. Due to its high prevalence, it has become a serious public health issue worldwide. The causes of dyslipidemia are complex, and it is generally believed that lipid levels are mainly influenced by genetic and environmental factors, as well as other interactions. Key enzymes in homocysteine metabolism, Methylene Tetrahydrofolate Reductase (MTHFR) and Methionine Synthase Reductase (MTRR), have gene polymorphisms that are important genetic factors affecting plasma homocysteine levels. Hyperhomocysteinemia is significantly associated with an increased risk of stroke and other vascular diseases, while dyslipidemia is the core pathological basis of atherosclerosis. In recent years, many researchers have studied the correlation between MTHFR and MTRR polymorphic sites and blood lipids, but the results are still inconclusive, showing significant differences among different populations. This article aims to systematically review related domestic and international studies, focusing on molecular biological mechanisms, epidemiological evidence, gene-environment interactions, as well as research controversies and limitations.