Integrative GWAS and snRNA-seq Reveal a Mesenchymal-Like Endothelial Signature in Moyamoya Disease
Our findings identify a protective <i>RNF213</i> variant that is mutually exclusive with the known rs112735431-A allele. Genetic risk converges on an MEC state markedly expanded in MMD.
Authors
- Y. Shirai
- Shogo Dofuku (ORCID: https://orcid.org/0000-0002-3064-8858)
- Yuki Shinya (ORCID: https://orcid.org/0000-0003-0097-5804)
- Satoshi Kiyofuji (ORCID: https://orcid.org/0000-0001-8780-5773)
- Yu Sakai (ORCID: https://orcid.org/0000-0003-0789-8995)
- Yudai Hirano (ORCID: https://orcid.org/0000-0003-4043-0593)
- Seiei Torazawa (ORCID: https://orcid.org/0000-0001-8447-8287)
- H. Inoue
- Shumpei Ishikawa (ORCID: https://orcid.org/0000-0002-3309-2330)
- Hirofumi Nakatomi
- Nobuhito Saito
- Akira Teraoka
- Yumie Mizoro
- Kyuto Sonehara
- Hideaki Ono
- Yukinori Okada
- on behalf of the BioBank Japan Project
- So Hirata
- Hiroki Hongo
- Daisuke Komura
- Daisuke Sato
- Takahiro Tsuchiya
- Satoru Miyawaki
- Shotaro Ogawa
- Masahiro Shimizu
- Hideaki Imai
- Satoshi Koizumi
Institutions
- Human Genome Sciences (United States) (US)
- Tokyo Medical University (JP)
- Wellcome Sanger Institute (GB)
- Ohkawara Neurosurgical Hospital (JP)
- Uji Hospital (JP)
- YKK (Japan) (JP)
- Norwegian Womens Public Health Association (NO)
- RIKEN Center for Integrative Medical Sciences (JP)
- Memorial Hospital (US)
- The University of Tokyo (JP)
- International University of Health and Welfare (JP)
- Kumamoto University (JP)
- The University of Osaka (JP)
Publication Details
- Journal
- Stroke
- Published
- 2026-03-02
- DOI
- https://doi.org/10.1161/strokeaha.125.053747
- Primary Topic
- Moyamoya disease diagnosis and treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00