| Project/Area Number |
23659495
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
膠原病・アレルギー・感染症内科学
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| Research Institution | University of Tsukuba |
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Principal Investigator |
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| Co-Investigator(Renkei-kenkyūsha) |
KONO Hajime 帝京大学, 医学部, 講師 (60585074)
FURUKAWA Hiroshi 独立行政法人国立病院機構相模原病院, 臨床研究センター, 室長 (00372293)
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| Project Period (FY) |
2011 – 2012
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| Project Status |
Completed (Fiscal Year 2012)
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| Budget Amount *help |
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2012: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2011: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | 膠原病学 / NLRP3 / 遺伝子多型 / 全身性エリテマトーデス / 全身性強皮症 / ANCA関連血管炎 |
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| Research Abstract |
To examine whether the polymorphisms in NLRP3 gene play a role in the genetic predisposition to autoimmune rheumatic diseases, association study was performed for 16 tagSNPs of NLRP3 on 741 Japanese patients with systemic lupus erythematosus (SLE) and 916 healthy controls. Increased frequency of rs1539019A/A genotype, rs4925650A allele and A/A genotype was detected in SLE with renal disorder. rs4925650A/A genotype was also associated with dsDNA antibody positive SLE. eQTL analysis indicated association between decreased NLRP3 mRNA level in T cells and rs1539019A/A. Significant association of these SNPs with systemic sclerosis and ANCA associated vasculitis was not detected. These results suggested association of NLRP3polymorphisms with clinical phenotypes of SLE.
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