Genetic variant RNF213 c.14576G>A in various phenotypes of intracranial major artery stenosis/occlusion

Stroke

Volumn 44, Issue 10, 2013, Pages 2894-2897

  Miyawaki, Satoru ^a   Imai, Hideaki ^a   Shimizu, Masahiro ^b   Yagi, Shinichi ^b   Ono, Hideaki ^a   Mukasa, Akitake ^a   Nakatomi, Hirofumi ^a   Shimizu, Tsuneo ^b   Saito, Nobuhito ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b Kanto Neurosurgical Hospital   (Japan)

Author keywords

Genetics; Intracranial atherosclerosis; Moyamoya disease; Rnf213

Indexed keywords

RING FINGER PROTEIN; RING FINGER PROTEIN 213; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BRAIN ARTERY ANEURYSM; BRAIN HEMORRHAGE; CAROTID ATHEROSCLEROSIS; CASE CONTROL STUDY; CEREBROVASCULAR DISEASE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; JAPANESE; MAJOR CLINICAL STUDY; MALE; MOYAMOYA DISEASE; OCCLUSIVE CEREBROVASCULAR DISEASE; PHENOTYPE; PRIORITY JOURNAL;

GENETICS; INTRACRANIAL ATHEROSCLEROSIS; MOYAMOYA DISEASE; RNF213;

ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; FEMALE; GENETIC VARIATION; HUMANS; INCIDENCE; JAPAN; MALE; MOYAMOYA DISEASE; RISK FACTORS; UBIQUITIN-PROTEIN LIGASES;

EID: 84888342774     PISSN: 00392499     EISSN: 15244628     Source Type: Journal    
DOI: 10.1161/STROKEAHA.113.002477     Document Type: Article

References (15)

1. Feigin VL, Lawes CM, Bennett DA, Barker-Collo SL, Parag V. Worldwide stroke incidence and early case fatality reported in 56 population- based studies: A systematic review. Lancet Neurol. 2009;8:355-369.
2. O'Donnell MJ, Xavier D, Liu L, Zhang H, Chin SL, Rao-Melacini P, et al; INTERSTROKE Investigators. Risk factors for ischaemic and intracerebral haemorrhagic stroke in 22 countries (the INTERSTROKE study): A case-control study. Lancet. 2010;376:112-123.
3. Sacco RL, Ellenberg JH, Mohr JP, Tatemichi TK, Hier DB, Price TR, et al. Infarcts of undetermined cause: The NINCDS Stroke Data Bank. Ann Neurol. 1989;25:382-390.
4. Flossmann E, Schulz UG, Rothwell PM. Systematic review of methods and results of studies of the genetic epidemiology of ischemic stroke. Stroke. 2004;35:212-227.
5. Meschia JF, Tournier-Lasserve E. Advances in stroke: genetics 2012. Stroke. 2013;44:309-310.
6. Caplan LR, Gorelick PB, Hier DB. Race, sex and occlusive cerebrovascular disease: A review. Stroke. 1986;17:648-655.
7. Miyawaki S, Imai H, Takayanagi S, Mukasa A, Nakatomi H, Saito N. Identification of a genetic variant common to moyamoya disease and intracranial major artery stenosis/occlusion. Stroke. 2012;43:3371-3374.
8. Wu Z, Jiang H, Zhang L, Xu X, Zhang X, Kang Z, et al. Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han population. PLoS One. 2012;7:e48179.
9. Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, et al. Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease. Neurology. 2012;78:803-810.
10. Liu W, Morito D, Takashima S, Mineharu Y, Kobayashi H, Hitomi T, et al. Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS One. 2011;6:e22542.
11. Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, et al. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet. 2011;56:34-40.
12. Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis; Health Labour Sciences Research Grant for Research on Measures for Infractable Diseases. Guidelines for diagnosis and treatment of moyamoya disease (spontaneous occlusion of the circle of Willis). Neurol Med Chir (Tokyo). 2012;52:245-266.
13. Hayashi K, Horie N, Suyama K, Nagata I. An epidemiological survey of moyamoya disease, unilateral moyamoya disease and quasi-moyamoya disease in Japan. Clin Neurol Neurosurg. October 4, 2012. doi:10.1016/j. clineuro.2012.09.020.:http://www.clineu-journal.com. Accessed April 20, 2013.
14. Liu W, Hitomi T, Kobayashi H, Harada KH, Koizumi A. Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeast Asian Populations. Neurol Med Chir (Tokyo). 2012;52:299-303.
15. Koizumi A, Kobayashi H, Liu W, Fujii Y, Senevirathna ST, Nanayakkara S, et al. P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure. Environ Health Prev Med. 2013;18:121-129.