1999 Fiscal Year Final Research Report Summary
The genetic approach for intracranial aneurysm.
| Project/Area Number |
10671290
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Cerebral neurosurgery
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| Research Institution | GIFU UNIVERSITY |
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Principal Investigator |
TAKENAKA Katsunobu Gifu University, School of Medicine, Research Associate, 医学部, 助手 (00283292)
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| 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)
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| Project Period (FY) |
1998 – 1999
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| Keywords | aneurysm / endoglin / polymorphism / genetic / endothelial cell / subarachnoid hemorrhage |
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| 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.
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[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
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[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
