Cerebral vascular abnormality in carriers of the RNF213 risk variant detected by a new genetic test

烟雾病（MMD）表现为进行性双侧颈内动脉狭窄和异常侧支血管。进行了全基因组关联研究，结果显示染色体17 q25-ter与MMD风险有很强的关联。在RNF 213位点由7个SNPs组成的单倍型与MMD风险密切相关。RNF 213的突变分析显示，在73%的非家族性MMD病例和1.4%的对照中存在创始突变c.14576G>A;该突变的携带者患MMD的风险增加（P=1.2x10-43，比值比=190.8）。我们开发了一种基因检测方法来检测这种创始人突变。新方法使我们能够在没有专业知识的情况下用免疫层析检测靶点突变，这将有助于在床边和临床上评估MMD的风险。

Moyamoya disease (MMD) manifests progressive bilateral internal carotid artery stenosis and abnormal collateral vessels. A genome-wide association study was performed, which showed a strong association of chromosome 17q25-ter with MMD risk. A single haplotype consisting of seven SNPs at the RNF213 locus was tightly associated with MMD risk. Mutational analysis of RNF213 revealed a founder mutation, c.14576G>A, in 73% of non-familial MMD cases and 1.4% of controls; carriers of this mutation have increased risk of MMD (P=1.2x10-43, odds ratio=190.8). We developed a genetic testing method for this founder mutation. The new method enables us to detect the target mutation with immunechromatography without expertize, which would be useful for evaluation of a risk for MMD risk in bedside and clinic.