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Identification of susceptible genes by genome-wide genetic analysis in patients with familial aneurysms

Research Project

Project/Area Number 15K10316
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Neurosurgery
Research InstitutionTokyo Women's Medical University

Principal Investigator

Kasuya Hidetoshi  東京女子医科大学, 医学部, 教授 (50169455)

Co-Investigator(Kenkyū-buntansha) 広田 健吾  東京女子医科大学, 医学部, 助教 (10532690)
藤田 俊之  東京女子医科大学, 医学部, 助教 (40718095)
恩田 英明  東京女子医科大学, 医学部, 非常勤講師 (60185692)
赤川 浩之  東京女子医科大学, 医学部, 准教授 (60398807)
Co-Investigator(Renkei-kenkyūsha) SASAHARA atsushi  東京女子医科大学, 医学部, 講師 (40287371)
KOSEKI Hirokazu  東京女子医科大学, 医学部, 助教 (10766546)
Research Collaborator TAKAHASHI yuichi  
Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2015: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Keywordssubarachnoid hemorrhge / aneurysm / gene / familial / 脳動脈瘤 / 遺伝子 / 家族性 / 多発性のう胞腎 / 感受性遺伝子 / 次世代シーケンサー / レアバリアント
Outline of Final Research Achievements

Family including 7 affected persons with intracranial aneurysms (IAs) was analyzed and rare functional variant, SPERT at 13q14.13 was found. We investigated whether IAs without obvious renal diseases were also associated with PKD1 (16p13.3) and PKD2 (4q21). We performed next-generation sequencing of the ADPKD genes in 150 Japanese familial IA patients and 150 non-IA controls. A total of 44 rare candidate variants were confirmed by Sanger sequencing; 26 were identified from 33 patients, whereas 21 were identified from 20 controls. The candidate variants were all missense variants, except for one, and showed consistent association with IA in both burden and variance component tests (odds ratio [OR] = 1.80; WSS, P = .026; SKAT, P = .044). This association was largely derived from the variants found in the extracellular structural domains of PKD1 (OR = 2.06; WSS, P = .030; SKAT, P = .029). ADPKD genes are susceptibility genes for IA even in patients without ADPKD.

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • Research Products

    (7 results)

All 2018 2017 2016 2015

All Journal Article (4 results) (of which Peer Reviewed: 3 results,  Open Access: 3 results,  Acknowledgement Compliant: 1 results) Presentation (2 results) Book (1 results)

  • [Journal Article] Macrophage Imaging of Cerebral Aneurysms with Ferumoxytol: an Exploratory Study in an Animal Model and in Patients2017

    • Author(s)
      Aoki Tomohiro、Saito Makoto、Koseki Hirokazu、Tsuji Keiichi、Tsuji Atsushi、Murata Kiyoshi、Kasuya Hidetoshi、Morita Akio、Narumiya Shuh、Nozaki Kazuhiko
    • Journal Title

      Journal of Stroke and Cerebrovascular Diseases

      Volume: 26 Issue: 10 Pages: 2055-2064

    • DOI

      10.1016/j.jstrokecerebrovasdis.2016.10.026

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] T cell function is dispensable for intracranial aneurysm formation and progression.2017

    • Author(s)
      Miyata H., Koseki H., Takizawa K., Kasuya H., Nozaki K., Narumiya S., Aoki T.
    • Journal Title

      PLoS ONE

      Volume: 12 Issue: 4 Pages: e0175421-e0175421

    • DOI

      10.1371/journal.pone.0175421

    • NAID

      120006309300

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Disturbance of CT perfusion within 24 hours after onset is associated with WFNS grade but not development of DCI in patients with aneurysmal SAH2017

    • Author(s)
      5.Takahashi Y, Sasahara A, Yamazaki K, Inazuka M, Kasuya H
    • Journal Title

      Acta Neurochir

      Volume: 159 Issue: 12 Pages: 23192324-23192324

    • DOI

      10.1007/s00701-017-3362-2

    • Related Report
      2017 Annual Research Report
  • [Journal Article] Association of rare nonsynonymous variants in PKD 1 and PKD2 with familial intracranial aneurysms in a Japanese population2016

    • Author(s)
      Hirota K, Akagawa H, Onda H, Yoneyama T, Kawamata T, Kasuya H
    • Journal Title

      J Stroke Cerbrovasc Dis

      Volume: 12 Issue: 12 Pages: 2900-2906

    • DOI

      10.1016/j.jstrokecerebrovasdis.2016.08.002

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Presentation] S1P1アゴニストによるマクロファージの経内皮的浸潤経路の遮断を介した脳動脈瘤抑制効果2018

    • Author(s)
      小関宏和、山本梨絵、宮田悠、糟谷英俊、野崎和彦、青木友浩、成宮周
    • Organizer
      第43回日本脳卒中学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 次世代シーケンサーによる家族性脳動脈瘤の多発性嚢胞腎遺伝子ターゲットリシーケンス2015

    • Author(s)
      広田健吾、赤川浩之、恩田英明、糟谷英俊
    • Organizer
      日本脳神経外科学会第74回学術総会
    • Place of Presentation
      ロイトン札幌(北海道・ 札幌市)
    • Year and Date
      2015-10-14
    • Related Report
      2015 Research-status Report
  • [Book] 第6章.脳動脈瘤の遺伝解析、『未破裂脳動脈瘤 Japan standard』2015

    • Author(s)
      広田健吾, 赤川浩之, 糟谷英俊.
    • Total Pages
      6
    • Publisher
      中外医学社
    • Related Report
      2015 Research-status Report

URL: 

Published: 2015-04-16   Modified: 2019-03-29  

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