title: Significant Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease.
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.
authors.affiliation: Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan; Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Takaaki
authors.initials: T
authors.lastname: Morimoto
authors.affiliation: Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan. Electronic address: mineharu@kuhp.kyoto-u.ac.jp.
authors.forename: Yohei
authors.initials: Y
authors.lastname: Mineharu
authors.affiliation: Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan. Electronic address: kobayashi.hatasu.3u@kyoto-u.ac.jp.
authors.forename: Hatasu
authors.initials: H
authors.lastname: Kobayashi
authors.affiliation: Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Kouji H
authors.initials: KH
authors.lastname: Harada
authors.affiliation: Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Funaki
authors.affiliation: Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Takagi
authors.affiliation: Department of Neurosurgery, Kobe City Medical Center General Hospital, Hyogo, Japan.
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Sakai
authors.affiliation: Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Susumu
authors.initials: S
authors.lastname: Miyamoto
authors.affiliation: Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Akio
authors.initials: A
authors.lastname: Koizumi
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002533:Cerebral Angiography / Q000379:methods; D002648:Child; D002675:Child, Preschool; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007564:Japan; D016015:Logistic Models; D018810:Magnetic Resonance Angiography; D008297:Male; D008875:Middle Aged; D009072:Moyamoya Disease / Q000000981:diagnostic imaging / Q000235:genetics*; D016017:Odds Ratio; D010641:Phenotype; D011110:Polymorphism, Genetic; D012307:Risk Factors; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D055815:Young Adult
chemical_list: C557998:RNF213 protein, human; D044767:Ubiquitin-Protein Ligases; D000251:Adenosine Triphosphatases
keywords: Moyamoya disease; RNF213; epidemiology; genetics