Significant Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease

详细信息    查看全文

• 作者：Takaaki Morimoto ; MD^* ; ^&dagger ; ; Yohei Mineharu ; MD ; PhD^* ; ^{mineharu@kuhp.kyoto-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Hatasu Kobayashi ; MD ; PhD^&dagger ; ; ^{kobayashi.hatasu.3u@kyoto-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Kouji H. Harada ; MPH ; PhD^&dagger ; ; Takeshi Funaki ; MD ; PhD^* ; Yasushi Takagi ; MD ; PhD^* ; Nobuyuki Sakai ; MD ; PhD^&Dagger ; ; Susumu Miyamoto ; MD ; PhD^* ; Akio Koizumi ; MD ; PhD^&dagger ;
• 关键词：Moyamoya disease ; genetics ; epidemiology ; RNF213
• 刊名：Journal of Stroke and Cerebrovascular Diseases
• 出版年：2016
• 出版时间：November 2016
• 年：2016
• 卷：25
• 期：11
• 页码：2632-2636
• 全文大小：319 K

文摘

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.

<h4 id="absSec_2">Methodsh4>

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.

<h4 id="absSec_3">Resultsh4>

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).

<h4 id="absSec_4">Conclusionsh4>

Our data showed that the RNF213 p.R4810K polymorphism was significantly associated with quasi-moyamoya disease.