RNF213基因p.R4810K多态性与类烟雾病的显著关联。
Significant Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease.
作者信息
Morimoto Takaaki, Mineharu Yohei, Kobayashi Hatasu, Harada Kouji H, Funaki Takeshi, Takagi Yasushi, Sakai Nobuyuki, Miyamoto Susumu, Koizumi Akio
机构信息
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.
Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
出版信息
J Stroke Cerebrovasc Dis. 2016 Nov;25(11):2632-2636. doi: 10.1016/j.jstrokecerebrovasdis.2016.07.004. Epub 2016 Jul 28.
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.
背景
类烟雾病是一种血管造影表现与烟雾病相似且伴有已知基础疾病的疾病。神秘蛋白/RNF213是烟雾病的主要易感基因，其中p.R4810K变异是一种始祖多态性。目前对类烟雾病的遗传学了解甚少，因此，本研究调查了p.R4810K多态性与类烟雾病之间的潜在关联。
方法
对2006年至2015年间就诊于日本京都大学医院或神户市医疗中心的18例类烟雾病患者和91例对照进行p.R4810K变异的基因分型。
结果
18例类烟雾病患者中有12例发现p.R4810K变异。类烟雾病患者中p.R4810K携带者的频率显著高于对照组（66.7%对2.2%，优势比89.0，95%置信区间：19.2 - 669.4）。
结论
我们的数据表明，RNF213 p.R4810K多态性与类烟雾病显著相关。
Zotero 插件