Genetic analyses of familial anteriovenous malformation to establish preventive medical care against cerebrovascular disease

• Project/Area Number: 19590586
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Hygiene
• Research Institution: Suzuka University of Medical Science (2008); Kyoto University (2007)
• Principal Investigator: INOUE Sumiko Suzuka University of Medical Science, 薬学部, 准教授 (20378657)
• Project Period (FY): 2007 – 2008
• Project Status: Completed (Fiscal Year 2008)
• Budget Amount: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000); Fiscal Year 2008: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2007: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
• Keywords: 脳血管疾患 / 脳動静脈奇形 / 遺伝疾患 / 遺伝子変異 / 疾病予防 / 連鎖解析 / 海綿状血管腫 / KRIT1 / 遺伝子 / 脳・神経 / ゲノム / 社会医学 / 遺伝学

Research Abstract

家族性AVMは例数が少数の上、小家系が多く、通常のpositional cloningの方法による遺伝子同定が困難なため、家系内の連鎖解析に加えて、同地域のAVM孤発例についてmapping array を用いてSNPの症例対照比較による相関解析を行った。しかし両解析で共通の遺伝子座領域はほとんどなかった。さらに一卵性双生児二組で、mapping array を用いて差異について検証したが、有力な原因遺伝子座は認められなかった。AVMの家系は6家系以上に増加できなかったため、関連疾患Osler-Rendu-Weber病及び海綿状血管腫の遺伝子解析を行った。

Research Products

• [Journal Article] Autosomal dominant moyamoya disease maps to chromosome 17q25.3 (2008)
  • Author(s): Y. Mineharu, W. Liu, K. Inoue, N. Matsuura , S. Inoue, K. Takenaka, H. Ikeda, K. Houkin, Y. Takagi, K. Kikuta, K. Nozaki, N. Hashimoto, A. Koizumi
  • Journal Title: Neulorogy 70 Pages: 2357-2363
  • Peer Reviewed
• [Journal Article] Association analyses confirming a susceptibility locus for intracranial aneurysm at chromosome 14q23 (2008)
  • Author(s): Y Mineharu, K Inoue, S Inoue, K Kikuchi, H Ohishi, K Nozaki, N Hashimoto, A Koizumi
  • Journal Title: J Hum Genet 53 Pages: 325-332
  • NAID: 10021248519
  • Peer Reviewed
• [Journal Article] Model-based linkage analyses confirm chromosome 19q13.3 as a susceptibility locus for intracranial aneurysm (2007)
  • Author(s): Y Mineharu, K Inoue, S Inoue, S Yamada, Knozaki, N Hashimoto, A Koizumi
  • Journal Title: Stroke 38 Pages: 1174-1178
  • Peer Reviewed
• [Journal Article] Dimorphic gene expression patterns of anorexigenic and orexigenic peptides in hypothalamus account male and female hyperphagia in Akita type diabetic mice (2007)
  • Author(s): M Toyoshima, A Asakawa, M Fujimiya, KInoue, S Inoue, M Kinboshi, A Koizumi
  • Journal Title: Biochem. Biophys. Res. Commun 352 Pages: 703-708
  • Peer Reviewed
• [Journal Article] Combination of linkage and association studies for brain arteriovenous malformation (2007)
  • Author(s): S Inoue, W Liu, K Inoue, Y Mineharu, K Takenaka, H Yamakawa, M Abe, J J Jafar, RHerzig, A Koizumi
  • Journal Title: Stroke 38 Pages: 1368-1370
  • NAID: 10018567226
  • Peer Reviewed
• [Journal Article] Combination of Linkage and Association Studies for Brain Arteriovenous Malformation (2007)
  • Author(s): Inoue S., Liu W., Inoue K., et. al.
  • Journal Title: Stroke 38 Pages: 1368-1370
  • NAID: 10018567226
  • Peer Reviewed
• [Journal Article] Model-Based Linkage Analyses Confirm Chromosome 19q13.3 as a Susceptibility Locus for Intracranial Aneurysm (2007)
  • Author(s): Mineharu Y., Inoue S., et. al.
  • Journal Title: Stroke 38 Pages: 1174-1178
  • Peer Reviewed
• [Journal Article] Dimorphic gene expression patterns of anorexigenic and orexigenic peptides in hypothalamus account male and (2007)
  • Author(s): Toyoshima M., Inoue S., et. al.
  • Journal Title: Biochem Biophys Res Commun 352 Pages: 703-708
  • Peer Reviewed
• [Presentation] 海綿状血管腫の遺伝子解析 (2009)
  • Author(s): 井上純子
  • Organizer: 第79回日本衛生学会総会
  • Place of Presentation: 北里大学白金キャンパス
  • Year and Date: 2009-03-31
• [Presentation] 海綿状血管腫の遺伝子解析 (2009)
  • Author(s): 井上純子
  • Organizer: 第79回日本衛生学会学術総会
  • Place of Presentation: 北里大学
  • Year and Date: 2009-03-30
• [Presentation] Osler-Rendu-Weber病患者におけるendoglin遺伝子の新しい変異 (2008)
  • Author(s): 井上純子
  • Organizer: 第78回日本衛生学会総会
  • Place of Presentation: 熊本市民会館
  • Year and Date: 2008-03-31