2016 Fiscal Year Final Research Report
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)
|
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)
|
Project Period (FY) |
2013-04-01 – 2017-03-31
|
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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Free Research Field |
遺伝学
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