Basic research for ischemic stroke associated genes

2016 Fiscal Year Final Research Report

• Project/Area Number: 25293304
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Neurosurgery
• Research Institution: The University of Tokyo
• Principal Investigator: Saito Nobuhito 東京大学, 医学部附属病院, 教授 (60262002)
• Co-Investigator(Kenkyū-buntansha): 今井 英明 東京大学, 医学部附属病院, 講師 (70359587) ; 武笠 晃丈 東京大学, 医学部附属病院, 講師 (90463869) ; 宮脇 哲 東京大学, 医学部附属病院, 助教 (70407914)
• Co-Investigator(Renkei-kenkyūsha): TAIRA MASANORI 東京大学, 大学院理学系研究科, 准教授 (60150083) ; TAKAHASHI SHINICHIRO 東京大学, 大学院農学生命科学研究科, 准教授 (00197146)
• Project Period (FY): 2013-04-01 – 2017-03-31
• Keywords: 脳卒中 / 脳卒中関連遺伝子 / 頭蓋内主幹動脈狭窄 / もやもや病 / 類もやもや病 / RNF213 / 脳卒中リスクアレル

Outline of Final Research Achievements

We analyzed stroke related gene, RNF213 through various approaches aiming at the establishment of novel preventive treatment for ischemic stroke based on the genetic background. One of the most important results of this study is that genetic variant RNF213 c.14576G>A had significant association with various phenotypes of intracranial major artery stenosis / occlusion (ICAS), confirmed by a larger cohort study. Moreover, we clarified several characteristics of ICAS with RNF213 c.14576G>A　variant. ICAS with RNF213 c.14576G>A　variant showed negative remodeling at the stenotic lesion and RNF213 c.14576G>A　was specifically associated with ICAS of anterior circulation. Through large scale genomic analysis, we have identified the several candidate genetic variants which modify the onset and severity of the ischemic stroke. These results would be the basis for the further studies.

Free Research Field

脳神経外科学