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侧支血管异常。一项全基因组关联研究显示，染色体17q25-ter与烟雾病风险密切相关。RNF213位点由7个snp组成的单倍型与烟雾病风险密切相关。RNF213的突变分析显示，73%的非家族性烟雾病病例和1.4%的对照组中存在c.14576G> a的创始人突变；携带该突变的人患烟雾病的风险增加（P=1.2x10-43，优势比=190.8）。我们开发了一种基因检测方法来检测这种始祖突变。新方法使我们能够在没有专家的情况下通过免疫层析检测靶突变，这将有助于临床和临床对烟雾病风险的评估。

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.