Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association · 2016
Significant Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease.
СтатьяМногоцентровое исследованиеНазвание и аннотация: Перевод пока не подготовлен
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Morimoto Takaaki, Mineharu Yohei, Kobayashi Hatasu, Harada Kouji H, Funaki Takeshi, Takagi Yasushi, Sakai Nobuyuki, Miyamoto Susumu, Koizumi Akio
Аннотация
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.
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.
Предметные рубрики MeSH
Adenosine TriphosphatasesAdolescentAdultAgedCase-Control StudiesCerebral AngiographyChildChild, PreschoolFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansJapanLogistic ModelsMagnetic Resonance AngiographyMaleMiddle AgedMoyamoya DiseaseOdds RatioPhenotypePolymorphism, GeneticRisk FactorsUbiquitin-Protein LigasesYoung Adult