Identification of genetic and environmental risk factors for moyamoya disease
Project/Area Number |
15K19963
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Neurosurgery
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Research Institution | Kyoto University |
Principal Investigator |
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Research Collaborator |
MATSUDA yoshiko
MORIMOTO takaaki
FUNAKI takashi
KATAOKA hiroharu
HARADA H kouji
HIGASA koichiro
TABARA yasuharu
MATSUDA fumihiko
KOIZUMI akio
MIYAMOTO susumu
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Project Period (FY) |
2015-04-01 – 2019-03-31
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Project Status |
Completed (Fiscal Year 2018)
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Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2018: ¥390,000 (Direct Cost: ¥300,000、Indirect Cost: ¥90,000)
Fiscal Year 2017: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2016: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
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Keywords | moyamoya disease / genetics / environmental risk / cerebrovascular disease / atherosclerosis / coronary artery disease / RNF213 / moyamoya / gene / epigenetics / environmental / intracranial / もやもや病 / 遺伝子 / 環境因子 / 感染症 / 家族性 |
Outline of Final Research Achievements |
We aimed to determine the significance of the R4810K mutation in RNF213 gene in clinical settings. We also aimed to identify genetic factors other than RNF213 and environmental risk factors for moyamoya disease. First, we found that the R4810K mutation was associated not only with moyamoya disease but moyamoya syndrome or coronary artery disease. For family members of patients with moyamoya disease, carrier of the R4810K mutation had high risk of cerebrovascular disease as one of four carriers had stenoocclusive lesions. Whole genome sequencing of patients without the R4810K mutation identified several candidate genes for moyamoya disease. As for environmental risk factors, we found the non-genetic factor which was associated with disease progression of unilateral moyamoya disease.
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Academic Significance and Societal Importance of the Research Achievements |
もやもや病は日本人を含めた東アジアに多い脳血管の病気です。もやもや病の原因遺伝子として我々が特定したRNF213遺伝子のR4810K変異は、もやもや病以外の脳血管障害のリスクにもなっていることが分かってきました。本研究により、R4810K変異が頭蓋内血管のみならず、冠動脈など頭蓋外の血管狭窄にも関わっていることを明らかにしました。もやもや病発症には、RNF213遺伝子変異以外の要因も大切であることが分かっており、本研究を通じて、別の候補遺伝子を特定することに成功しました。また、環境要因の一つを明らかにすることもでき、今後病気の全容解明に繋げられると期待されます。
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Report
(5 results)
Research Products
(36 results)
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[Journal Article] Dysregulation of RNF213 promotes cerebral hypoperfusion2018
Author(s)
Morimoto T, Enmi J, Hattori Y, Iguchi S, Saito S, Harada K, Okuda H, Mineharu Y, Takagi Y, Youssefian S, Iida H, Miyamoto S, Ihara M, Kobayashi H, Koizumi A.
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Journal Title
Sci Rep
Volume: 8
Issue: 1
Pages: 3607-3607
DOI
NAID
Related Report
Peer Reviewed / Open Access
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[Journal Article] Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease2017
Author(s)
Morimoto T, Mineharu Y, Ono K, Nakatochi M, Ichihara S, Kabata R, Takagi Y, Cao Y, Zhao L, Kobayashi H, Harada K. H, Takenaka K, Funaki T, Yokota M, Matsubara T, Yamamoto K, Izawa H, Kimura T, Miyamoto S, Koizumi A
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Journal Title
PLoS ONE
Volume: 12
Issue: 4
Pages: e0175649-e0175649
DOI
NAID
Related Report
Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease2017
Author(s)
Morimoto T, Mineharu Y, Ono K, Nakatochi M, Ichihara S, Kabata R, Takagi Y, Cao Y, Zhao L, Kobayashi H, Harada KH, Takenaka K, Funaki T, Yokota M, Matsubara T, Yamamoto K, Izawa H, Kimura T, Miyamoto S, Koizumi A.
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Journal Title
NAID
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Presentation] もやもや病感受性遺伝子RNF213と冠動脈疾患との関連2018
Author(s)
森本貴昭, 峰晴陽平, 尾野亘, 中杤昌弘, 市原佐保子, 加畑理咲子, 髙木康志, 小林果, 原田浩二, 竹中勝信, 舟木健史, 木村剛, 小泉昭夫, 宮本享
Organizer
第43回日本脳卒中学会総会
Related Report
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[Presentation] Significance of RNF213 for the diagnosis of moyamoya disease and related disorders.2017
Author(s)
Mineharu Y, Matsuda Y, Takagi Y, Funaki T, Kobayashi H, Hitomi T, Harada K, Morimoto T, Agawa Y, Yoshida K, Koizumi A, Miyamoto S.
Organizer
脳神経外科学会総会
Related Report
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[Presentation] もやもや病感受性遺伝子RNF213と冠動脈疾患との関連2017
Author(s)
森本貴昭, 峰晴陽平, 尾野亘, 中杤昌弘, 市原佐保子, 加畑理咲子, 髙木康志, 小林果, 原田浩二, 竹中勝信, 舟木健史, 木村剛, 小泉昭夫, 宮本享
Organizer
第76回日本脳神経外科学会学術総会
Related Report
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[Presentation] もやもや病感受性遺伝子RNF213と冠動脈疾患との関連2017
Author(s)
森本貴昭, 峰晴陽平, 尾野亘, 中杤昌弘, 市原佐保子, 加畑理咲子, 髙木康志, 小林果, 原田浩二, 竹中勝信, 舟木健史, 木村剛, 小泉昭夫, 宮本享
Organizer
第43回日本脳卒中学会総会
Related Report
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