Identification of novel susceptibility genes associated with moyamoya disease without pathogenic variants in RNF213
| Project/Area Number |
16K10740
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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) |
糟谷 英俊 東京女子医科大学, 医学部, 教授 (50169455)
恩田 英明 東京女子医科大学, 医学部, 非常勤講師 (60185692)
米山 琢 東京女子医科大学, 医学部, 講師 (90318105)
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| Research Collaborator |
Nariai Tadashi
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2018: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Keywords | もやもや病 / 感受性遺伝子 / 類もやもや病 / RNF213遺伝子 / CCER2遺伝子 / レアバリアント / 次世代シーケンサー / 脳神経疾患 |
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| Outline of Final Research Achievements |
The etiology of Moyamoya disease (MMD) is still largely unclear, despite identification of RNF213 as the most significant susceptibility gene in Japanese patients. Following up our previous study confirming genetic heterogeneity in Japanese patients with MMD, we extensively surveyed novel candidate genes for a new perspective on the etiology of this disease. Next-generation sequencing and following rare-variant association analysis identified CCER2 as a novel susceptibility gene to MMD. Although CCER2 molecular function is not well characterized, it is a secretory protein expressed in the brain; therefore, it constitutes a potential biomarker of MMD.
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| Academic Significance and Societal Importance of the Research Achievements |
もやもや病は世界的にみても本邦に最も患者が多い。有病率は人口10万人に対して3～10人の比較的稀な疾患ではあるが、近年の研究では一見して生活習慣病による脳血管狭窄であっても遺伝学的な要因が共通なものも存在することが明らかになってきた。このような遺伝学的要因は複数存在するが、これらを特定できれば新たな診断法や治療法の開発に応用することができ、近年社会的な注目度が高まっている脳卒中の医療において大きな貢献となることが期待される。本課題ではその一端を特定するに至った。
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Report
(4 results)
Research Products
(14 results)
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[Journal Article] Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease.2017
Author(s)
Mukawa M, Nariai T, Onda H, Yoneyama T, Aihara Y, Hirota K, Kudo T, Sumita K, Maehara T, Kawamata T, Kasuya H, Akagawa H.
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Journal Title
J Stroke Cerebrovasc Dis.
Volume: 26
Issue: 1
Pages: 150-161
DOI
Related Report
Peer Reviewed / Acknowledgement Compliant
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