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

20260 citationsJournal Article

Authors

Yudai Hirano · YKK (Japan)

Satoru Miyawaki · Norwegian Womens Public Health Association

Kyuto Sonehara · Wellcome Sanger Institute

Shinichi Namba · YKK (Japan)

H. Inoue · The University of Tokyo

Y. Shirai · YKK (Japan)

Hideaki Imai · Tokyo Medical University

Abstract

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.

Topics & Keywords

Moyamoya disease diagnosis and treatment Cerebrovascular and genetic disorders Neuroinflammation and Neurodegeneration Mechanisms

UN Sustainable Development Goals

Zero hunger

Publication Details

Published in: Stroke

DOI: 10.1161/strokeaha.125.053747

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