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Next generation sequencing of a large pedigree with intracranial aneurysms

Research Project

Project/Area Number 23592108
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Cerebral 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) ONDA Hideaki  東京女子医科大学, 医学部, 非常勤講師 (60185692)
YONEYAMA Taku  東京女子医科大学, 医学部, 助教 (90318105)
AKAGAWA Hiroyuki  東京女子医科大学, 医学部, 准教授 (60398807)
Project Period (FY) 2011 – 2013
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2013: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2012: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Fiscal Year 2011: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywords脳動脈瘤 / 感受性遺伝子 / 次世代シーケンサー / 遺伝子解析 / Identity-by-descent / SNP / ゲノムワイド連鎖解析
Research Abstract

Recent advances in sequencing technologies, in particular the next generation sequencing (NGS), have led us to focus on rare variant mapping together with a renewed interest in a familial linkage analysis. In the present study, we successfully identified susceptibility genes for intracranial aneurysms (IA) using NGS in combination with a linkage analysis of a large IA pedigree. These susceptibility genes were associated with molecular causes of atherosclerosis or polycystic kidney disease, both known to be initiating IA formation.

Report

(4 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Research-status Report
  • 2011 Research-status Report
  • Research Products

    (10 results)

All 2013 2012 2011 Other

All Journal Article (6 results) (of which Peer Reviewed: 5 results) Presentation (3 results) Book (1 results)

  • [Journal Article] 重症くも膜下出血患者における予後予測:CT perfusion(CTP)の有用性2013

    • Author(s)
      笹原篤、谷茂、萩原信司、大渕英徳、広田健吾、新井直幸、黒井康博、花大洵、鈴木一史、糟谷英俊
    • Journal Title

      脳卒中の外科

      Volume: 46 Pages: 269-275

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Meta-analysis of microarray gene expression studies on intracranial aneurysms.2012

    • Author(s)
      Roder C, Kasuya H, Harati A, Tatagiba M, Inoue I, Krishcek B
    • Journal Title

      Neuroscience

      Volume: 201 Pages: 105-113

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Common genetic polymorphisms in Moyamoya and Atherosclerotic Disease in Europeans.2011

    • Author(s)
      Roder C, Peters V, Kasuya H, Nishizawa, Takehara Y, Berg D, Schulte C, Khan N, Tatagiba M, Krischek B
    • Journal Title

      Childs Nerv Syst

      Volume: 27 Pages: 245-252

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] Analysis of ACTA2 in European Moyamoya Disease patients2011

    • Author(s)
      Roder C, Peters V, Kasuya H, Nishizawa T, Wakita S, Berg D,Schulte C, Khan N, Tatagiba M, Boris Krischek B
    • Journal Title

      Eur J Paediatr Neurol

      Volume: 15 Pages: 117-122

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk2011

    • Author(s)
      Yasuno K, Bakircioglu M, Low SK, Bilguvar K, Ruigrok YM, Niemela M, Hata A, Bijlenga P, Kasuya H, Nakamura Y, Lifton RP, Gunel M
    • Journal Title

      PNAS

      Volume: 108 Pages: 19707-19712

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] Gene expression profiling reveals distinct molecular signatures associated with the rupture of intracranial aneurysm

    • Author(s)
      Nakaoka F, Tajima A, Yoneyama T, Kasuya H, Mizutani T, Inoue I
    • Journal Title

      Gene expression profiles of intracranial aneurysms

      Volume: (in press)

    • Related Report
      2013 Final Research Report
  • [Presentation] 脳卒中の診断:CTA CTPでわかったこと2013

    • Author(s)
      糟谷英俊
    • Organizer
      第11回福岡脳卒中救命セミナー
    • Place of Presentation
      福岡
    • Related Report
      2013 Annual Research Report
  • [Presentation] 脳卒中の診断:CTA CTPでわかったこと2013

    • Author(s)
      糟谷英俊
    • Organizer
      滋賀県済生会病院脳神経外科勉強会
    • Place of Presentation
      滋賀
    • Related Report
      2013 Annual Research Report
  • [Presentation] 脳卒中治療:リハビリ医の立場から2013

    • Author(s)
      関根千晶、石田哲治、隅本亜由美、川瀬義隆、布施文香、畑澤由恭子、山田静香、柴田興一、糟谷英俊
    • Organizer
      第38回日本外科系連合学会学術集会
    • Place of Presentation
      東京
    • Related Report
      2013 Annual Research Report
  • [Book] 脳神経外科UpToDate2013

    • Author(s)
      糟谷英俊
    • Total Pages
      1
    • Publisher
      照林社
    • Related Report
      2013 Annual Research Report

URL: 

Published: 2011-08-05   Modified: 2019-07-29  

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