Expressive

rs10782008 - RNF213

Magnitude 4.5 · 2 studies on file

Reported associations

  • Genome-wide association study identifies novel susceptibilities to adult moyamoya disease. - Journal of human genetics (2023) · Jeon JP, Hong EP, Ha EJ, Kim BJ, Youn DH, Lee S, Lee HC, Kim KM, Lee SH, Cho WS, Kang HS, Kim JE · PubMed 37365321

    Genome-wide association study has limited to discover single-nucleotide polymorphisms (SNPs) in several ethnicities. Here, we investigated an initial GWAS to identify genetic modifiers predicting with adult moyamoya disease (MMD) in Koreans. GWAS was performed in 216 patients with MMD and 296 controls using the large-scale Asian-specific Axiom Precision Medicine Research Array. A subsequent fine-mapping analysis was conducted to assess the causal variants associated with adult MMD. A total of 489,966 out of 802,688 SNPs were subjected to quality control analysis. Twenty-one SNPs reached a genome-wide significance threshold (p = 5 × 10 ) after pruning linkage disequilibrium (r < 0.8) and mis-clustered SNPs. Among these variants, the 17q25.3 region including TBC1D16, CCDC40, GAA,

  • 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

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.