2013 Fiscal Year Final Research Report
Cerebral vascular abnormality in carriers of the RNF213 risk variant detected by a new genetic test
| Project/Area Number |
24659486
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Tohoku University |
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Principal Investigator |
KURE Shigeo 東北大学, 医学(系)研究科(研究院), 教授 (10205221)
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| Co-Investigator(Kenkyū-buntansha) |
TOMINAGA Teiji 東北大学, 大学院医学系研究科, 教授 (00217548)
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| Project Period (FY) |
2012-04-01 – 2013-03-31
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| Keywords | 小児神経学 / 保因者診断 |
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| Research Abstract |
Moyamoya disease (MMD) manifests progressive bilateral internal carotid artery stenosis and abnormal collateral vessels. A genome-wide association study was performed, which showed a strong association of chromosome 17q25-ter with MMD risk. A single haplotype consisting of seven SNPs at the RNF213 locus was tightly associated with MMD risk. Mutational analysis of RNF213 revealed a founder mutation, c.14576G>A, in 73% of non-familial MMD cases and 1.4% of controls; carriers of this mutation have increased risk of MMD (P=1.2x10-43, odds ratio=190.8). We developed a genetic testing method for this founder mutation. The new method enables us to detect the target mutation with immunechromatography without expertize, which would be useful for evaluation of a risk for MMD risk in bedside and clinic.
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Research Products
(16 results)
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[Journal Article] Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease2012
Author(s)
Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, TsurusakiY, Doi H, Sakai H, Saitsu H, Shimojima K, Yamamoto T, Higurashi M, Kawahara N, Kawauchi H, Nagasaka K, Okamoto N, Mori T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsubara Y, Kure S, Matsumoto N.
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Journal Title
Neurology
Volume: 78(11)(Epub)
Pages: 803-10
DOI
Peer Reviewed
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[Presentation] Identification of a susceptibility gene for Moyamoya disease in Japanese patients with Moyamoya disease and its clinical significance2012
Author(s)
Kure S, Kamada F, Aoki Y, Abe Y, Kikuchi A, Komatsuzaki S, Kanno J, Matsubara Y, Touho H, Miyatake S, Matsumoto N.
Organizer
54th Annual meeting of Society of Child Neurology
Place of Presentation
Sapporo, Japan
Year and Date
20120517-19
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