rs11869363 - RNF213

Magnitude 4.5 · 1 study on file

Reported associations

• Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. - Stroke (2018) · Duan L, Wei L, Tian Y, Zhang Z, Hu P, Wei Q, Liu S, Zhang J, Wang Y, Li D, Yang W, Zong R, Xian P, Han C, Bao X, Zhao F, Feng J, Liu W, Cao W, Zhou G, Zhu C, Yu F, Yang W, Meng Y, Wang J, Chen X, Wang Y, Shen B, Zhao B, Wan J, Zhang F, Zhao G, Xu A, Zhang X, Liu J, Zuo X, Wang K · PubMed 29273593

  Moyamoya disease (MMD) is a rare cerebral vasculopathy characterized by bilateral internal carotid artery stenosis and often leads to stroke in children or young adults. Although familial inheritance is well recognized, the genetic basis of MMD remains poorly understood. A 2-stage genome-wide association study was conducted involving 1492 cases and 5084 controls. In the discovery stage, logistic regression was used to test associations, and imputation was conducted based on genotyped single-nucleotide polymorphisms (SNPs). In the validation stage, the top significant SNPs were again genotyped in an independent cohort. Fixed-effects inverse variance-weighted meta-analysis was used in the combined discovery and validation samples. Furthermore, association analysis was conducted in subgroups

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