Next generation sequencing of a large pedigree with intracranial aneurysms

• Project/Area Number: 23592108
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Cerebral neurosurgery
• Research Institution: Tokyo 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: ¥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.

Research Products

• [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
  • 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
  • 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
  • Peer Reviewed
• [Journal Article] Analysis of ACTA2 in European Moyamoya Disease patients (2011)
  • 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
  • Peer Reviewed
• [Journal Article] Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk (2011)
  • 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
  • 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)
• [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
• [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
• [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
• [Book] 脳神経外科UpToDate (2013)
  • Author(s): 糟谷英俊
  • Total Pages: 1
  • Publisher: 照林社