标题：MTHFR基因多态性及Hcy与颈动脉粥样硬化相关性研究进展

      作者：李娟 1 综述 喻明 1，2 审校    1.遵义医科大学附属医院神经内科，贵州 遵义 563000；2.遂宁市中心医院神经内科，四川 遂宁 629000

      卷次： 2022年33卷19期

      【摘要】 颈动脉粥样硬化与缺血性脑卒中(IS)的发生及发展密切相关，是大动脉粥样硬化型脑梗死(LAA)及小动脉闭塞型脑梗死(SAO)发生的主要病因学基础，临床上需要积极干预。同型半胱氨酸(Hcy)是颈动脉粥样硬化的独立危险因素，与颈动脉内膜厚度、斑块性质及狭窄程度密切相关，并最终促进 IS的发生及发展。N5-N10-亚甲基四氢叶酸还原酶(MTHFR)是Hcy代谢的关键酶，MTHFR基因多态性可通过改变MTHFR酶的活性结构而影响Hcy的代谢水平，推测其可能直接或间接参与颈动脉粥样硬化及 IS的发生及发展。这一推论已经成为MTHFR基因多态性的研究热点，但目前相关研究仍较少且结论具有争议性。因此本文通过概述MTHFR基因多态性与Hcy之间的相关性及其致动脉粥样硬化的生理病理学机制，并对目前已有相关研究结论进行总结，以期更进一步了解MTHFR基因多态性与颈动脉粥样硬化及 IS的相关性及研究进展，为科研工作者后续更深入研究提供文献依据，并最终将MTHFR基因多态性的基因检测运用于临床，为临床 IS及颈动脉粥样硬化的防治提供个体化的治疗方案。
      【关键词】 缺血性卒中；颈动脉粥样硬化；同型半胱氨酸；MTHFR基因多态性；综述
      【中图分类号】 R743.3 【文献标识码】 A 【文章编号】 1003—6350（2022）19—2573—05

Research progress of MTHFR gene polymorphism and correlation between Hcy and carotid atherosclerosis.
LIJuan 1, YU Ming 1,2. 1. Department of Neurology, Affiliated Hospital of Zunyi Medical University, Zunyi 563000, Guizhou,CHINA; 2. Department of Neurology, Suining Central Hospital, Suining 629000, Sichuan, CHINA【Abstract】 Carotid atherosclerosis is closely related to the occurrence and development of ischemic stroke (IS),and it is the main etiological basis of large-artery atherosclerosis (LAA) and small-vessel occlusion (SAO), which re-quires active intervention in clinical practice. Homocysteine (Hcy) is an independent risk factor for carotid atherosclero-sis, which is closely related to carotid intima thickness, plaque nature, and stenosis degree, and ultimately promotes theoccurrence and development of IS. N5-N10-methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in Hcy me-tabolism. MTHFR gene polymorphism affects Hcy metabolism by changing the active structure of MTHFR enzyme,which is speculated to be directly or indirectly involved in the occurrence and development of carotid atherosclerosis andIS. This inference has become a hot topic of MTHFR gene polymorphism research, but there are still few relevant stud-ies and the conclusions are controversial. Therefore, this paper summarizes the correlation between MTHFR gene poly-morphism and Hcy and the physiological and pathological mechanism of atherosclerosis, as well as the existing researchconclusions, in order to further understand the specific correlation and research progress of MTHFR gene polymor-phism, carotid atherosclerosis and IS. It is expected to provide literature basis for further research, and ultimately applygene detection of MTHFR gene polymorphism to clinical practice, providing more individualized treatment for the pre-vention and control of IS and carotid atherosclerosis.
      【Key words】 Ischemic stroke; Carotid atherosclerosis; Homocysteine; MTHFR gene polymorphism; Review　　　·综述·doi:10.3969/j.issn.1003-6350.2022.19.035