2012 Fiscal Year Final Research Report
A role of danger signal response gene NLRP3 for the genetic predisposition to systemic rheumatic diseases
| 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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| Keywords | 膠原病学 |
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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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[Journal Article] Association of PHRF1-IRF7 region polymorphism with clinical phenotypes of systemic lupus erythematosus: an association study in a Japanese population2012
Author(s)
Kawasaki A, Furukawa H, Kondo Y, Ito S, Hayashi T, Kusaoi M, Matsumoto I, Tohma S, Takasaki Y, Hashimoto H, Sumida T, Tsuchiya N
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Journal Title
Lupus
Volume: 21
Pages: 890-895
DOI
Peer Reviewed
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[Journal Article] Association of UBE2L3polymorphisms with diffuse cutaneous systemic sclerosis in a Japanese population2012
Author(s)
Hasebe N, Kawasaki A, Ito I, Kawamoto M, Hasegawa M, Fujimoto M, Furukawa H, Tohma S, Sumida T, Takehara K, Sato S, Kawaguchi Y, Tsuchiya N
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Journal Title
Ann Rheum Dis
Volume: 71
Pages: 1259-1260
DOI
Peer Reviewed
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[Presentation] Genetic background of antineutrophil cytoplasmic antibody-associated vasculitis in a Japanese population: association of STAT4 with myeloperoxidase antineutrophil cytoplasmic antibody-positive vasculitis2012
Author(s)
Kawasaki A, Inoue N, Ajimi C, Ito I, Sada K, Kobayashi S, Yamada H, Furukawa H, Tomita M, Sumida T, Tohma S, Miyasaka N, Ozaki S, Hashimoto H, Makino H, Harigai M, Tsuchiya N
Organizer
2012 American College of Rheumatology Annual Scientific Meeting
Place of Presentation
Washington DC, USA
Year and Date
20121009-14
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