Moyamoya病（MMD）是一种以Wills环及其重要分支血管狭窄或闭塞为特征的脑血管病，临床表现为脑缺血、脑出血等多种形式。目前MMD的发病机制尚不明确，但流行病学调查发现，MMD存在明显的地区和人种差异。前期研究发现，RNF213基因的1个SNP位点与日本人群MMD的易感性和临床特征显著相关，但该位点在中国人群中分布频率较低，RNF213基因在中国汉族人群中与MMD的关系仍不清楚，且已知SNP突变并不影响RNF213基因的转录及其蛋白的活性。因此，本课题在前期研究的基础上，结合南京卒中注册系统，采取病例-对照研究设计，分析RNF213基因多态性与中国汉族人群MMD易感性和临床特征之间的关系，探讨功能性SNP对该基因转录调控的作用。以期确认可以作为分子标记物进行基因筛查的特异性强、敏感性高的SNP 位点，对明确MMD高危人群、早期诊断和治疗、预测疾病发展进程具有重要意义和实用价值。

Moyamoya disease (MMD) is a cerebrovascular disease involving stenosis of the major vessels of the circle of Willis and proximal portions of its principal branches. The clinical presentation of moyamoya disease can be organized as cerebral infarction, hemorrhage and others.The etiology of the disease is still unclear, but mounting evidence on ethnic predisposition and familial aggregation indicated that genetic factors may play a pivotal role in the pathogenesis of MMD.Previous studies found rs112735431 in RNF213 showed significant association with MMD.But Chinese MMD patients have a relatively lower genotype frequency of rs112735431 of RNF213 than Japanese. And this SNP couldn't change the transcription or influencing ubiquitin ligase activity.Thus, we aim to carry out a case-control study based on Nanjing Stroke Registy to assese the genetic susceptibility of RNF213 gene polymorphism and MMD. In addition, we will explore the roles of these SNPs on transcriptional regulation. Our results could be used to screen high-risk groups and susceptible individuals for MMD.And they have important academic values for improving the diagnosis and predicting of disease development.