RNF213基因相关脑血管病研究进展

颅内大动脉狭窄/闭塞(intracranial major artery stenosis/occlusion,ICASO)是我国缺血性卒中最常见病因之一。既往研究提示其与烟雾病在受累血管分布、种族差异性等方面具有相似性。环指蛋白213(ring finger protein 213,RNF213)基因是烟雾病的易感基因。研究发现该基因与ICASO、大动脉粥样硬化性缺血性卒中、颅内动脉瘤同样具有相关性,提示RNF213基因可能与脑血管病发生、发展存在密切的联系。本文旨在通过回顾国内外相关文献,就RNF213结构、功能、基因多态性及与脑血管病相关性等问题进行概述。

Progress of Ring Finger Protein 213 Gene-related Cerebrovascular Disease

Intracranial major arterial stenosis / occlusion ( ICASO) is one of the most common
causes of ischemic stroke in China. Previous studies have suggested that ICASO is similar to
moyamoya disease in involved blood vessels and ethnic differences. The ring finger protein 213
(RNF213) gene is known to be the first reported susceptibility gene to moyamoya disease. Recently,
several teams have reported that RNF213 gene is also associated with ICASO, atherosclerotic
ischemic stroke and intracranial aneurysms, which suggests that RNF213 gene may be closely
related to the occurrence and development of cerebrovascular diseases. So this paper summarized
the structure, function, gene polymorphism of RNF213 and its correlation with cerebrovascular
diseases by reviewing the relevant literature at home and abroad.