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...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。展开更多
目的探讨环指蛋白213（RNF213）基因P．R4810K（G〉A）单核苷酸多态性与中国汉族缺血性卒中的关系。方法纳入2013年6月～2013年12月入住郑州大学第一附属医院神经内科汉族缺血性脑卒中患者，所有患者均行血管影像学检查，包括磁共振血...目的探讨环指蛋白213（RNF213）基因P．R4810K（G〉A）单核苷酸多态性与中国汉族缺血性卒中的关系。方法纳入2013年6月～2013年12月入住郑州大学第一附属医院神经内科汉族缺血性脑卒中患者，所有患者均行血管影像学检查，包括磁共振血管成像（MRA）或者CT血管成像（CTA），分为颅内大动脉狭窄或闭塞亚组（intracranial major artery stenosis／occlusion，ICASO）及无颅内大动脉狭窄或闭塞亚组（norl-ICASO），同时选取性别、年龄与缺血性脑卒中组相匹配的健康汉族人为对照组。通过聚合酶链式反应及直接测序方法行多态性位点分析。结果共纳入285例中国汉族缺血性脑卒中患者，其中139例（48．8％）存在不同程度颅内动脉狭窄或者闭塞，146例（51．2％）无颅内大动脉狭窄或闭塞。RNF213基因P．R4810K多态性在缺血性卒中组、1CASO亚组、非ICASO亚组、正常对照组的发生率分别为0．35％（1／285）、0．72％（1／139）、0（0／146）、0．33％（1／300）。和对照组相比，RNF213基因P．R4810K多态性与缺血性卒中组差异无统计学意义（P=1，oddsratio[OR]1．053，95％confi-denceinterval[CI]0．066-16．912），与合并颅内大动脉狭窄或者闭塞亚组问差异同样无统计学意义（P=0．533，OR2．167，95％CI0．135-34．894）。结论RNF213基因P．R4810K单核苷酸多态性与中国汉族缺血性脑卒中及存在ICASO的缺血性脑卒中患者的易患性无相关性，但需在较大样本中进一步验证。展开更多
Objective：The aim of this study was to help people comprehensively understand the research advances related to ring finger protein 213 （RNF213） in moyamoya disease （MMD） and to understand the disease at the molec...Objective：The aim of this study was to help people comprehensively understand the research advances related to ring finger protein 213 （RNF213） in moyamoya disease （MMD） and to understand the disease at the molecular level to provide a new perspective of the diagnosis of the disease.Data Sources：This review was based on data in articles published between 2005 and 2015 that were retrieved from the PubMed database.The search terms included RNF213,MMD,intracranial major artery stenosis/occlusion （ICASO）,genotype,phenotype,mutant and variants,and the combinations of these terms.Study Selection：Articles related to MMD and RNF213 were selected for review,and we also reviewed publications related to ICASO.Results：RNF213 is not only associated with MMD but also associated with intracranial major artery stenosis.In addition,RNF213 variants exhibit apparent ethnic diversity;specifically,the c.14576G〉A variant is mainly detected in Korean,Chinese,and Japanese populations,particularly the latter population.The genotypes of RNF213 correlate with the phenotypes of MMD;for example,the homozygous c.14576G〉A variant is associated with early-onset,severe symptoms,and an unfavorable prognosis.Furthermore,the RNF213 c.14576G〉A variant should be considered during the diagnosis of MMD because no patients with quasi-MMD have been reported to carry the RNF213 c.14576G〉A variant whereas 66 of 78 patients with definite MMD have been found to carry this variant.Conclusions：The growing literature demonstrates that MMD is primarily caused by the synergy of genetic and environmental factors,and unknown genetic modifiers might play roles in the etiology of MMD.Further research should be conducted to clarify the pathogenic mechanism of MMD.展开更多
文摘颅内大动脉狭窄/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。
文摘目的探讨环指蛋白213（RNF213）基因P．R4810K（G〉A）单核苷酸多态性与中国汉族缺血性卒中的关系。方法纳入2013年6月～2013年12月入住郑州大学第一附属医院神经内科汉族缺血性脑卒中患者，所有患者均行血管影像学检查，包括磁共振血管成像（MRA）或者CT血管成像（CTA），分为颅内大动脉狭窄或闭塞亚组（intracranial major artery stenosis／occlusion，ICASO）及无颅内大动脉狭窄或闭塞亚组（norl-ICASO），同时选取性别、年龄与缺血性脑卒中组相匹配的健康汉族人为对照组。通过聚合酶链式反应及直接测序方法行多态性位点分析。结果共纳入285例中国汉族缺血性脑卒中患者，其中139例（48．8％）存在不同程度颅内动脉狭窄或者闭塞，146例（51．2％）无颅内大动脉狭窄或闭塞。RNF213基因P．R4810K多态性在缺血性卒中组、1CASO亚组、非ICASO亚组、正常对照组的发生率分别为0．35％（1／285）、0．72％（1／139）、0（0／146）、0．33％（1／300）。和对照组相比，RNF213基因P．R4810K多态性与缺血性卒中组差异无统计学意义（P=1，oddsratio[OR]1．053，95％confi-denceinterval[CI]0．066-16．912），与合并颅内大动脉狭窄或者闭塞亚组问差异同样无统计学意义（P=0．533，OR2．167，95％CI0．135-34．894）。结论RNF213基因P．R4810K单核苷酸多态性与中国汉族缺血性脑卒中及存在ICASO的缺血性脑卒中患者的易患性无相关性，但需在较大样本中进一步验证。
基金This study was supported by the grants from the National Science and Technology Supporting Plan （the ＂11^th Five-Year Plan＂） （No. 2006BAI01A13） and the National Natural Science Foundation of China （No. 81371292）.
文摘Objective：The aim of this study was to help people comprehensively understand the research advances related to ring finger protein 213 （RNF213） in moyamoya disease （MMD） and to understand the disease at the molecular level to provide a new perspective of the diagnosis of the disease.Data Sources：This review was based on data in articles published between 2005 and 2015 that were retrieved from the PubMed database.The search terms included RNF213,MMD,intracranial major artery stenosis/occlusion （ICASO）,genotype,phenotype,mutant and variants,and the combinations of these terms.Study Selection：Articles related to MMD and RNF213 were selected for review,and we also reviewed publications related to ICASO.Results：RNF213 is not only associated with MMD but also associated with intracranial major artery stenosis.In addition,RNF213 variants exhibit apparent ethnic diversity;specifically,the c.14576G〉A variant is mainly detected in Korean,Chinese,and Japanese populations,particularly the latter population.The genotypes of RNF213 correlate with the phenotypes of MMD;for example,the homozygous c.14576G〉A variant is associated with early-onset,severe symptoms,and an unfavorable prognosis.Furthermore,the RNF213 c.14576G〉A variant should be considered during the diagnosis of MMD because no patients with quasi-MMD have been reported to carry the RNF213 c.14576G〉A variant whereas 66 of 78 patients with definite MMD have been found to carry this variant.Conclusions：The growing literature demonstrates that MMD is primarily caused by the synergy of genetic and environmental factors,and unknown genetic modifiers might play roles in the etiology of MMD.Further research should be conducted to clarify the pathogenic mechanism of MMD.
