Rare variant analysis of rheumatoid arthritis associated genes.
Project/Area Number |
25293225
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Research Category |
Grant-in-Aid for Scientific Research (B)
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Allocation Type | Partial Multi-year Fund |
Section | 一般 |
Research Field |
Collagenous pathology/Allergology
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Research Institution | Institute of Physical and Chemical Research |
Principal Investigator |
Kochi Yuta 国立研究開発法人理化学研究所, 統合生命医科学研究センター, 副チームリーダー (60415156)
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Co-Investigator(Renkei-kenkyūsha) |
MYOUZEN Keiko 国立研究開発法人理化学研究所, 統合生命医科学研究センター, リサーチアソシエイ (80462737)
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Project Period (FY) |
2013-04-01 – 2017-03-31
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Project Status |
Completed (Fiscal Year 2016)
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Budget Amount *help |
¥17,940,000 (Direct Cost: ¥13,800,000、Indirect Cost: ¥4,140,000)
Fiscal Year 2015: ¥5,590,000 (Direct Cost: ¥4,300,000、Indirect Cost: ¥1,290,000)
Fiscal Year 2014: ¥5,590,000 (Direct Cost: ¥4,300,000、Indirect Cost: ¥1,290,000)
Fiscal Year 2013: ¥6,760,000 (Direct Cost: ¥5,200,000、Indirect Cost: ¥1,560,000)
|
Keywords | 関節リウマチ / rare variant / ケースコントロール関連解析 / 次世代シークエンサー |
Outline of Final Research Achievements |
The aim of this study was to clarify the role of rare variants in the onset of rheumatoid arthritis. To identify rare variants associated with the disease, we sequenced 16 genes in the NF-κB signal pathway. As a result, rare variants were significantly enriched in the NF-κB pathway genes in patients. Through the functional analysis of rare variants in RELA gene by in vitro assays, we demonstrated that most of these variants increased the NF-κB activity in cells. These findings suggested rare variants substantially contributed to the pathogenesis of rheumatoid arthritis.
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Report
(5 results)
Research Products
(10 results)
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[Journal Article] Genetics of rheumatoid arthritis contributes to biology and drug discovery.2014
Author(s)
Okada Y, Wu D, Trynka G, Raj T, Terao C, Ikari K, Kochi Y, Ohmura K, Suzuki A, Yoshida S, Graham RR, Manoharan A, Ortmann W, Bhangale T, Denny JC, (省略), GARNET consortium, (以下省略).
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Journal Title
Nature
Volume: 506
Issue: 7488
Pages: 376-381
DOI
Related Report
Peer Reviewed / Open Access
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