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Article

Integrative GWAS and snRNA-seq Reveal a Mesenchymal-Like Endothelial Signature in Moyamoya Disease.

Stroke - 1 May 2026

Hirano Yudai, Miyawaki Satoru, Sonehara Kyuto, Namba Shinichi, Inoue Hirotaka, Shirai Yuya, Imai Hideaki, Hongo Hiroki, Shimizu Masahiro, Ono Hideaki, Mizoro Yumie, Matsuda Koichi, Ogawa Shotaro, Torazawa Seiei, Sakai Yu, Sato Daisuke, Tsuchiya Takahiro, Hirata So, Koizumi Satoshi, Dofuku Shogo, Shinya Yuki, Kiyofuji Satoshi, Komura Daisuke, Teraoka Akira, Nakatomi Hirofumi, Ishikawa Shumpei, Okada Yukinori, Saito Nobuhito

Abstract excerpt

BACKGROUND: Moyamoya disease (MMD) has a strong genetic basis, with the rare RNF213 p.Arg4810Lys variant (rs112735431) representing a major risk factor, while the broader genetic architecture and disease-relevant vascular cell types remain incompletely understood. METHODS: We conducted a genome-wide association study in Japanese individuals (n=47 656; 401 MMD cases and 47 255 controls). Population-level features...

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Adenosine Triphosphatases
Genome-Wide Association Study

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Histone Deacetylases

Moyamoya Disease

Repressor Proteins

Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 41766532
DOI: 10.1161/STROKEAHA.125.053747

Genes

MMD
RNF213
FN1
HDAC9
TWIST1

Variants

rs112735431
rs112735431
rs8074015

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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