2017 Fiscal Year Final Research Report
Identification of susceptible genes by genome-wide genetic analysis in patients with familial aneurysms
| Project/Area Number |
15K10316
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Neurosurgery
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| Research Institution | Tokyo Women's Medical University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
広田 健吾 東京女子医科大学, 医学部, 助教 (10532690)
藤田 俊之 東京女子医科大学, 医学部, 助教 (40718095)
恩田 英明 東京女子医科大学, 医学部, 非常勤講師 (60185692)
赤川 浩之 東京女子医科大学, 医学部, 准教授 (60398807)
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| Co-Investigator(Renkei-kenkyūsha) |
SASAHARA atsushi 東京女子医科大学, 医学部, 講師 (40287371)
KOSEKI Hirokazu 東京女子医科大学, 医学部, 助教 (10766546)
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| Research Collaborator |
TAKAHASHI yuichi
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Keywords | subarachnoid hemorrhge / aneurysm / gene / familial |
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| Outline of Final Research Achievements |
Family including 7 affected persons with intracranial aneurysms (IAs) was analyzed and rare functional variant, SPERT at 13q14.13 was found. We investigated whether IAs without obvious renal diseases were also associated with PKD1 (16p13.3) and PKD2 (4q21). We performed next-generation sequencing of the ADPKD genes in 150 Japanese familial IA patients and 150 non-IA controls. A total of 44 rare candidate variants were confirmed by Sanger sequencing; 26 were identified from 33 patients, whereas 21 were identified from 20 controls. The candidate variants were all missense variants, except for one, and showed consistent association with IA in both burden and variance component tests (odds ratio [OR] = 1.80; WSS, P = .026; SKAT, P = .044). This association was largely derived from the variants found in the extracellular structural domains of PKD1 (OR = 2.06; WSS, P = .030; SKAT, P = .029). ADPKD genes are susceptibility genes for IA even in patients without ADPKD.
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| Free Research Field |
neurosurgery
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