| 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)
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| 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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