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

Shuhei Okazaki; Takaaki Morimoto; Yoichiro Kamatani; Teppei Kamimura; Hatasu Kobayashi; Kouji Harada; Tsutomu Tomita; Aya Higashiyama; Jun C Takahashi; Jyoji Nakagawara; Masatoshi Koga; Kazunori Toyoda; Kazuo Washida; Satoshi Saito; Atsushi Takahashi; Makoto Hirata; Koichi Matsuda; Hideki Mochizuki; Michael Chong; Guillaume Paré; Martin O'Donnell; Tetsuro Ago; Jun Hata; Toshiharu Ninomiya; Martin Dichgans; Stéphanie Debette; Michiaki Kubo; Akio Koizumi; Masafumi Ihara

doi:10.1161/CIRCULATIONAHA.118.038439

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

Shuhei Okazaki^{1

2}, Takaaki Morimoto³, Yoichiro Kamatani^{4

5}, Teppei Kamimura¹, Hatasu Kobayashi^{3

6}, Kouji Harada³, Tsutomu Tomita⁷, Aya Higashiyama⁷, Jun C Takahashi⁸, Jyoji Nakagawara⁸, Masatoshi Koga⁹, Kazunori Toyoda⁹, Kazuo Washida¹, Satoshi Saito¹, Atsushi Takahashi^{10

4}, Makoto Hirata¹¹, Koichi Matsuda¹², Hideki Mochizuki², Michael Chong¹³, Guillaume Paré¹³, Martin O'Donnell¹⁴, Tetsuro Ago¹⁵, Jun Hata¹⁶, Toshiharu Ninomiya¹⁶, Martin Dichgans^{17

18}, Stéphanie Debette¹⁹, Michiaki Kubo²⁰, Akio Koizumi³, Masafumi Ihara¹

Affiliations

¹ Department of Neurology (S.O., T.K., K.W., S.S., M.I.), National Cerebral and Cardiovascular Center, Osaka, Japan.
² Department of Neurology, Osaka University Graduate School of Medicine, Japan (S.O., H.M.).
³ Department of Health and Environmental Sciences, Graduate School of Medicine, Kyoto University, Japan (T.M., H.K., K.H., A.K.).
⁴ Laboratory for Statistical Analysis (Y.K., A.T.), Kanagawa, Japan.
⁵ Center for Genomic Medicine, Graduate School of Medicine, Kyoto University, Japan (Y.K.).
⁶ Department of Biomedical Sciences, College of Life and Health Sciences, Chubu University, Aichi, Japan (H.K.).
⁷ NCVC Biobank (T.T., A.H.), National Cerebral and Cardiovascular Center, Osaka, Japan.
⁸ Department of Neurosurgery (J.C.T., J.N.), National Cerebral and Cardiovascular Center, Osaka, Japan.
⁹ Department of Cerebrovascular Medicine (M. Koga, K.T.), National Cerebral and Cardiovascular Center, Osaka, Japan.
¹⁰ Department of Genomic Medicine, Research Institute (A.T.), National Cerebral and Cardiovascular Center, Osaka, Japan.
¹¹ Institute of Medical Science, The University of Tokyo, Japan (M.H.).
¹² Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan (K.M.).
¹³ Population Health Research Institute, McMaster University, Hamilton, Canada (M.C., G.P.).
¹⁴ Health Research Board Clinical Research Facility, National University of Ireland Galway, and University Hospital Galway, Galway, Ireland (M.O.).
¹⁵ Department of Medicine and Clinical Science (T.A.), Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
¹⁶ Department of Epidemiology and Public Health (J.H., T.N.), Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
¹⁷ Institute for Stroke and Dementia Research, Ludwig-Maximilians-University Munich, Medical Center, Munich, Germany (M.D.).
¹⁸ Munich Cluster of Systems Neurology (SyNergy), Munich, Germany (M.D.).
¹⁹ Department of Neurology, Institute for Neurodegenerative Disease, Bordeaux University Hospital, France (S.D.).
²⁰ RIKEN Center for Integrative Medical Sciences (M. Kubo), Kanagawa, Japan.

PMID: 30615506
DOI: 10.1161/CIRCULATIONAHA.118.038439

No abstract available

Keywords: RING finger domains; atherosclerosis; constriction, pathologic; genetic predisposition to disease; moyamoya disease; stroke.

Publication types

Comparative Study
Letter
Meta-Analysis
Research Support, Non-U.S. Gov't

MeSH terms

Adenosine Triphosphatases / genetics*
Asian People / genetics
Atherosclerosis / diagnosis
Atherosclerosis / ethnology
Atherosclerosis / genetics*
Brain Ischemia / diagnosis
Brain Ischemia / ethnology
Brain Ischemia / genetics*
Case-Control Studies
Gene Frequency
Genetic Predisposition to Disease
Genetic Variation*
Humans
Japan / epidemiology
Moyamoya Disease / diagnosis
Moyamoya Disease / ethnology
Moyamoya Disease / genetics*
Phenotype
Risk Assessment
Risk Factors
Stroke / diagnosis
Stroke / ethnology
Stroke / genetics*
Ubiquitin-Protein Ligases / genetics*
White People / genetics

Substances

RNF213 protein, human
Ubiquitin-Protein Ligases
Adenosine Triphosphatases