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Moyamoya Disease Susceptibility Variant RNF213 p.R4810K Increases the Risk of Ischemic Stroke Attributable to Large-Artery Atherosclerosis.

Circulation. 2019 Jan 8;139(2):295-298. doi: 10.1161/CIRCULATIONAHA.118.038439.

Authors/Editors: Okazaki S, Morimoto T, Kamatani Y, Kamimura T, Kobayashi H, Harada K, Tomita T, Higashiyama A, Takahashi JC, Nakagawara J, Koga M, Toyoda K, Washida K, Saito S, Takahashi A, Hirata M, Matsuda K, Mochizuki H, Chong M, Paré G, O'Donnell M, Ago T, Hata J, Ninomiya T, Dichgans M, Debette S, Kubo M, Koizumi A, Ihara M.
Publication Date: 2019



Ischemic stroke (IS) is the leading cause of disability and early death in Asia, where large-artery atherosclerosis (LAA) attributable to intracranial stenosis is the predominant etiology. Recently, a large transethnic genome-wide association study identified 32 loci associated with IS; however, Asian-specific genetic determinants remain unknown. Moyamoya disease (MMD), a rare cerebrovascular disease endemic in East Asia, is associated with a susceptibility gene RNF213, and its dysregulation experimentally impairs cerebral perfusion. We hypothesized a more general role of RNF213 in IS and examined the association of the p.R4810K variant of the RNF213 gene, the founder variant for MMD for Japanese, Korean, and Chinese, with IS and its subtypes.

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