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The genetic approach for intracranial aneurysm.

Research Project

Project/Area Number 10671290
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Cerebral neurosurgery
Research InstitutionGIFU UNIVERSITY

Principal Investigator

TAKENAKA Katsunobu (1999)  Gifu University, School of Medicine, Research Associate, 医学部, 助手 (00283292)

山川 弘保 (1998)  岐阜大学, 医学部, 助手 (80291392)

Co-Investigator(Kenkyū-buntansha) NAGATA Kouichi  Aichi Prefectural Cancer Center, Head, 生化学部, 室長 (50252143)
NISHIMURA Yasuaki  Gifu University, School of Medicine, Research Associate, 医学部, 助教授 (60198512)
SAKAI Noboru  Gifu University, School of Medicine, Professor, 医学部, 教授 (10021487)
HAYAKAWA Daisuke  Gifu University, School of Medicine, Research Associate, 医学部, 助教授 (70252145)
竹中 勝信  岐阜大学, 医学部, 助手 (00283292)
Project Period (FY) 1998 – 1999
Project Status Completed (Fiscal Year 1999)
Budget Amount *help
¥2,900,000 (Direct Cost: ¥2,900,000)
Fiscal Year 1999: ¥900,000 (Direct Cost: ¥900,000)
Fiscal Year 1998: ¥2,000,000 (Direct Cost: ¥2,000,000)
Keywordsaneurysm / endoglin / polymorphism / genetic / endothelial cell / subarachnoid hemorrhage / 平滑筋 / リモデリング
Research Abstract

Endoglin, a transforming growth factor β-binding protein, is a glycoprotein expressed on the surface of human vascular endothelial cells. Mutations of this gene are responsible for hereditary hemorrhagic telangiectasis and are associated with sporadic intracerebral hemorrhage as a risk factor. The purpose of this study was to examine the polymorphism of this gene in patients with intracranial aneurysms.
The authors indentified the mutations and insertion polymorphism around exon 7 of the endoglin gene in 82 patients with intracranial saccular aneurysms (aneurysm group) and 114 control volunteers (control group).
A 6-base insertion (GGGGA) was found in intron 7 at 26 bases beyond the 3' end or exon 7. The hemozygous insertion of intron 7 of the gene was present in 20.7% of the aneurysm group compared with 6.1% of the control group (X2=9.837, p=0.0073). The insertion allele frequency was significantly higher in the aneurysm group (67[40.8%] of 164) than that in the control group (63[27.6%] of 228) (X2=7.48, p=0.0062). The most notable clinical characteristic of the 17 patients with homozygous insertion in the aneurysm group was the relatively high percentage of patients with hypertension and of those with multiple aneurysm.
The data provide evidence of an association between aneurysm development and a polymorphism at a genetic variant of endoglin in patients with these lesions.

Report

(3 results)
  • 1999 Annual Research Report   Final Research Report Summary
  • 1998 Annual Research Report
  • Research Products

    (9 results)

All Other

All Publications (9 results)

  • [Publications] K Takenaka, et al: "Angiotensin I-converting enzyme gene polymorphism in intracranial saccular aneurysm individuals"Neurol Res. 20. 607-611 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] K Takenaka, et al: "Polymorphism of the endoglin gene in patients with intracranial saccular aneurysms"J Neurosurg. 90. 935-938 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] K Takenaka, et al: "Analysis of phospholipase C gene in patients with subarachnoid hemorrhage due to ruptured intracranial saccular aneurysm"Neurol Res. 21. 368-372 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] K Takenaka, H Yamakawa, H Sakai, S Yoshimura, S Murase, A Okumura, K Nakatani, T Kimura, Y Nishimura, N Yoshimi, N Sakai: "Angiotensin I-converting enzyme gene polymorphism in intracranial saccular aneurysm individuals."Neurol Res. 20. 607-611 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] K Takenaka, H Sakai, H Yamakawa, S Yoshimura, M Kumagai, H Yamakawa, S Nakashima, Y Nozawa, N Sakai: "Polymorphism of the endoglin gene in patients with intracranial saccular aneurysms."J Neurosurgery. 90. 935-938 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] K Takenaka, H Sakai, H Yamakawa, T Itoh, S Murase, H Yamakawa, A Okumura, Y Nishimura, T Andoh, S Nakashima, Y Nozawa, N Sakai: "Analysis of phospholipase C gene in patients with subarachnoid hemorrhage due to ruptured intracranial saccular aneurysm."Neurol Res. 21. 368-372 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] K. Takenaka,et al.: "Polymorphism of the ehdoglin gene in patients with intracranial saccular aneurysms."J Neurosurg. 90. 935-938 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] K. Takenaka,et al.: "Analysis of phospholipase C gene in patients with subarachnoid hemorrhage due to ruptured intracranial saccular aneurysm."Neurol Res. 21. 368-372 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] 山川 弘保他: "くも膜下出血" クリニカルスタディブック2実習に役立つ病態マップ. 78-81 (1998)

    • Related Report
      1998 Annual Research Report

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Published: 1998-04-01   Modified: 2016-04-21  

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