环指蛋白213基因变异与血管相关疾病关系的研究进展  

Research progress on the relationship between ring finger protein 213 variation and vascular related diseases

作　　者：曹芳 刘珺宇 郭雨欣 严俊霞[1] Cao Fang;Liu Junyu;Guo Yuxin;Yan Junxia(Department of Epidemiology and Health Statistics,Xiangya School of Public Health,Central South University,Changsha 410013,China)

机构地区：[1]中南大学湘雅公共卫生学院流行病与卫生统计学系,长沙410013

出　　处：《中国脑血管病杂志》2024年第5期341-348,共8页Chinese Journal of Cerebrovascular Diseases

基　　金：中南大学研究生科研创新项目(1053320231820)。

摘　　要：环指蛋白213(RNF213)为烟雾病的易感基因,也与颅内动脉闭塞或狭窄、缺血性卒中、颅内动脉瘤、脑动静脉畸形等多种血管相关疾病有关。作者对RNF213基因变异与血管相关疾病的关系及其可能的机制进行综述,以期为该类疾病的预防、诊断和治疗提供参考。Ring finger protein 213(RNF213)was first identified as a susceptible gene for Moyamoya disease,and also found to be associated with various vascular related diseases such as intracranial artery occlusion/stenosis,ischaemic stroke,intracranial aneurysm,cerebral arteriovenous malformation,etc.This article systematically reviewed the literature of RNF213,providing an overview of the association and possible mechanisms between RNF213 variation and related diseases,in order to provide reference for the prevention,diagnosis,and treatment of related diseases.

关 键 词：环指蛋白213基因 血管疾病 综述 

分 类 号：R743[医药卫生—神经病学与精神病学]