Takaaki Morimoto1, Yohei Mineharu2, Hatasu Kobayashi3, Kouji H Harada4, Takeshi Funaki5, Yasushi Takagi5, Nobuyuki Sakai6, Susumu Miyamoto5, Akio Koizumi4. 1. 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. 2. Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan. Electronic address: mineharu@kuhp.kyoto-u.ac.jp. 3. Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan. Electronic address: kobayashi.hatasu.3u@kyoto-u.ac.jp. 4. Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan. 5. Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan. 6. Department of Neurosurgery, Kobe City Medical Center General Hospital, Hyogo, Japan.
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.
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 RNF213p.R4810K polymorphism was significantly associated with quasi-moyamoya disease.
Authors: Kala F Schilter; Jack E Steiner; Wendy Demos; Mohit Maheshwari; Jeremy W Prokop; Elizabeth Worthey; Beth A Drolet; Dawn H Siegel Journal: Am J Med Genet A Date: 2017-07-07 Impact factor: 2.802