rs12251537 - LINP1

Magnitude 4.5 · 1 study 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,

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