Development of a genetic test to evaluate the risk for Moyamoya disease
Project/Area Number |
23659512
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Research Category |
Grant-in-Aid for Challenging Exploratory Research
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Allocation Type | Multi-year Fund |
Research Field |
Pediatrics
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Research Institution | Tohoku University |
Principal Investigator |
KURE Shigeo 東北大学, 大学院・医学系研究科, 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) |
2011 – 2012
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Project Status |
Completed (Fiscal Year 2012)
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Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2011: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
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Keywords | モヤモヤ病 / 発症機序 / 遺伝子検査 / 遺伝子診断 |
Research Abstract |
Moyamoya disease (MMD) shows progressive cerebral angiopathy characterized by bilateral internal carotid artery stenosis and abnormal collateral vessels. A genome-wide association study was performed, which resulted in a strong association of chromosome17q25-ter with MMD risk. A single haplotype consisting of seven SNPs at the RNF213 locuswas tightly associated with MMD (P=5.3x10-10). Mutational analysis of RNF213 revealed a founder mutation, p.R4859K, in 73% of non-familial MMD cases and 1.4% of controls; this mutation greatly increases the risk of MMD (P=1.2x10-43, odds ratio=190.8). We developed a genetic testing method for this founder mutation by using CASSOH (competitive allele-specific short oligonucleotide hybridization). The CASSOH 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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Report
(3 results)
Research Products
(18 results)
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[Journal Article] Homozygous c. 14576G> A Variant of<I> RNF213</I> Predicts Early-Onset and Severe Form of Moyamoya Disease2012
Author(s)
Miyatake S, Miyake N, Touho H, Nishimura-T, A, Kondo Y, Okada ; I, Tsurusaki ; Y, 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, Matsuba S, Kure S, Matsumoto N
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Journal Title
Neurology
Volume: 78(11)
Issue: 11
Pages: 803-10
DOI
Related Report
Peer Reviewed
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[Journal Article] Development of a multi-step leukemogenesis model of MLL-rearranged leukemia using humanized mice2012
Author(s)
Moriya K, Suzuki M, Watanabe Y, Takahashi T, Aoki Y, Uchiyama T, Kumaki S, Sasahara Y, Minegishi M, Kure S, Tsuchiya S, Sugamura K, and Ishii N.
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Journal Title
PLoS ONE
Volume: 7(6)
Issue: 6
Pages: e37892-e37892
DOI
Related Report
Peer Reviewed
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[Journal Article] Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease.2012
Author(s)
Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, Tsurusaki Y, Doi H, Sakai H, Saitsu H, Shimojima K, Yamamoto T, Matsubara Y, Kure S, Matsumoto N.
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Journal Title
Neurology
Volume: 78
Pages: 803-810
Related Report
Peer Reviewed
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