2010 Fiscal Year Final Research Report
Establishment of preventive healthcare of cerebrovascular disease by gene expression analysis in a familial moyamoya disease
| Project/Area Number |
20590598
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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 |
Hygiene
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| Research Institution | Kyoto University |
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Principal Investigator |
HITOMI Toshiaki Kyoto University, 大学院・医学研究科, 講師 (90405275)
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| Co-Investigator(Renkei-kenkyūsha) |
KOIZUMI Akio 京都大学, 大学院・医学研究科, 教授 (50124574)
MINATA Mutsuko 京都大学, 大学院・医学研究科, 助教 (00456857)
INOUE Jyunko 京都大学, 大学院・医学研究科, 研究員 (20378657)
KOBAYASHI Hatasu 京都大学, 大学院・医学研究科, 研究員 (70542091)
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| Project Period (FY) |
2008 – 2010
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| Keywords | 予防医学 / Moyamoya病 / 遺伝子 / 17番染色体 / 脳血管疾患 / SNP / 東アジア / ヨーロッパ |
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| Research Abstract |
We have identified a susceptibility locus at 17q25.3 using genome-wide linkage analysis with Japanese autosomal dominant pedigrees. A novel rare variant, ss161110142, which was located within the promoter of the Raptor gene, was common to familial moyamoya disease. minor allele of ss161110142 was much more frequent in case than in controls among East Asian. However, this allele was not detected in the Caucasian case and control. Having carried out positional cloning for this region, we identified mysterin as a susceptible gene for moyamoya disease. This gene encodes a 591kDa protein and functions unknown. Mysterin knock-down zebra fish showed the unique anomaly of angiogenesis. Aberrant function of mysterin may underlie the characteristic vascular phenotype observed in moyamoya disease.
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[Journal Article] A rare Asian founder polymorphism of Raptor may explain the high prevalence of Moyamoya disease among East Asians and its low prevalence among Caucasians.2010
Author(s)
Liu W, Hashikata H, Inoue K, Matsuura N, Mineharu Y, Kobayashi H, Kikuta KI, Takagi Y, Hitomi T, Krischek B, Zou LP, Fang F, Herzig R, Kim JE, Kang HS, Oh CW, Tregouet DA, Hashimoto N, Koizumi A.
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Journal Title
Environ Health Prev Med 15
Pages: 94-104
Peer Reviewed
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[Journal Article] Confirmation of an association of SNP rs1333040 on 9p21 with familial and sporadic intracranial aneurysms in Japanese patients.2010
Author(s)
Hashikata H, Liu W, Inoue K, Mineharu Y, Yamada S, Nanayakkara S, Matsuura N, Hitomi T, Takagi Y, Hashimoto N, Miyamoto S, Koizumi A.
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Journal Title
Stroke 41
Pages: 1138-1144
Peer Reviewed
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