ArticleJournal of clinical neurology (Seoul, Korea)2026
Whole-Exome Sequencing Improves Risk Assessments of Adult Moyamoya Disease.
Article in Journal of clinical neurology (Seoul, Korea), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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The trial behind it
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Who cites it
1 citing paper in PubMed.
- Genetic Biomarkers for Moyamoya Disease Beyond Angiography.Journal of clinical neurology (Seoul, Korea) · 2026Article
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Authors and funding
11 authors.
Funding
Abstract
background and purposeWhole-exome sequencing (WES) is a valuable tool for identifying causative mutations in adult moyamoya disease (MMD), thereby advancing our understanding of the genetic mechanisms underlying this condition. Here, we conducted the first WES-based association study aimed at identifying genetic modifiers implicated in MMD.
methodsThis WES study involved 160 patients with MMD and 189 controls from a multicenter hospital-based biobank, and evaluated combined annotation-dependent depletion (CADD) scores. Mutant-allele frequencies were compared in 369,121 individuals derived from the UK Biobank (UKB) WES. Mutant-allele risk scores (MARSs) were created based on WES-identified mutations. Gene-based association analyses and pooled analyses in East-Asian populations were further performed.
resultsFourteen mutations reached the genome-wide significance criterion (
conclusionsThis pioneering study has corroborated the significance of p.R4810K and identified several causative mutations predisposing patients to MMD, which helps to improve the understanding of its polygenetic nature.
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