Significant Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease.
J Stroke Cerebrovasc Dis
; 25(11): 2632-2636, 2016 Nov.
Article
em En
| MEDLINE
| ID: mdl-27476341
ABSTRACT
BACKGROUND:
Quasi-moyamoya disease is an angiographical moyamoya disease equivalent accompanied by known underlying diseases. Mysterin/RNF213 is a major susceptibility gene for moyamoya disease, of which the p.R4810K variant is a founder polymorphism. The genetics of quasi-moyamoya disease is poorly understood, therefore, this study investigated a potential association between the p.R4810K polymorphism and quasi-moyamoya disease.METHODS:
Genotyping of the p.R4810K variant was performed on 18 quasi-moyamoya disease cases and 91 controls, who visited Kyoto University Hospital or Kobe City Medical Center, Japan, between 2006 and 2015.RESULTS:
The p.R4810K variant was found in 12 of 18 quasi-moyamoya disease patients. The frequency of p.R4810K carriers was significantly higher in quasi-moyamoya disease cases than in controls (66.7% versus 2.2%, odds ratio 89.0, 95% confidence interval 19.2-669.4).CONCLUSIONS:
Our data showed that the RNF213 p.R4810K polymorphism was significantly associated with quasi-moyamoya disease.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
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Adenosina Trifosfatases
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Ubiquitina-Proteína Ligases
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Doença de Moyamoya
Tipo de estudo:
Clinical_trials
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Etiology_studies
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Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Aged
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Child
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Child, preschool
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Female
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Humans
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Male
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Middle aged
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Stroke Cerebrovasc Dis
Ano de publicação:
2016
Tipo de documento:
Article