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Functional Variants in NFKBIE and RTKN2 Involved in Activation of the NF-κB Pathway Are Associated with Rheumatoid Arthritis in Japanese
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نویسنده
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myouzen k. ,kochi y. ,okada y. ,terao c. ,suzuki a. ,ikari k. ,tsunoda t. ,takahashi a. ,kubo m. ,taniguchi a. ,matsuda f. ,ohmura k. ,momohara s. ,mimori t. ,yamanaka h. ,kamatani n. ,yamada r. ,nakamura y. ,yamamoto k.
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منبع
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plos genetics - 2012 - دوره : 8 - شماره : 9
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چکیده
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Rheumatoid arthritis is an autoimmune disease with a complex etiology,leading to inflammation of synovial tissue and joint destruction. through a genome-wide association study (gwas) and two replication studies in the japanese population (7,907 cases and 35,362 controls),we identified two gene loci associated with rheumatoid arthritis susceptibility (nfkbie at 6p21.1,rs2233434,odds ratio (or) = 1.20,p = 1.3×10-15; rtkn2 at 10q21.2,rs3125734,or = 1.20,p = 4.6×10-9). in addition to two functional non-synonymous snps in nfkbie,we identified candidate causal snps with regulatory potential in nfkbie and rtkn2 gene regions by integrating in silico analysis using public genome databases and subsequent in vitro analysis. both of these genes are known to regulate the nf-κb pathway,and the risk alleles of the genes were implicated in the enhancement of nf-κb activity in our analyses. these results suggest that the nf-κb pathway plays a role in pathogenesis and would be a rational target for treatment of rheumatoid arthritis. © 2012 myouzen et al.
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آدرس
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laboratory for autoimmune diseases,center for genomic medicine (cgm),riken,yokohama, Japan, laboratory for autoimmune diseases,center for genomic medicine (cgm),riken,yokohama,japan,department of allergy and rheumatology,graduate school of medicine,university of tokyo,tokyo, Japan, laboratory for autoimmune diseases,center for genomic medicine (cgm),riken,yokohama,japan,department of allergy and rheumatology,graduate school of medicine,university of tokyo,tokyo,japan,laboratory for statistical analysis,cgm,riken,yokohama, Japan, center for genomic medicine,kyoto university graduate school of medicine,kyoto,japan,department of rheumatology and clinical immunology,graduate school of medicine,kyoto university,kyoto, Japan, laboratory for autoimmune diseases,center for genomic medicine (cgm),riken,yokohama, Japan, institute of rheumatology,tokyo women's medical university,tokyo, Japan, laboratory for medical informatics,cgm,riken,yokohama, Japan, laboratory for statistical analysis,cgm,riken,yokohama, Japan, laboratory for genotyping development,cgm,riken,yokohama, Japan, institute of rheumatology,tokyo women's medical university,tokyo, Japan, center for genomic medicine,kyoto university graduate school of medicine,kyoto,japan,crest program,japan science and technology agency,kawaguchi,saitama,japan,institut national de la santé et de la recherche médicale (inserm),unité u852,kyoto university graduate school of medicine,kyoto, Japan, department of rheumatology and clinical immunology,graduate school of medicine,kyoto university,kyoto, Japan, institute of rheumatology,tokyo women's medical university,tokyo, Japan, department of rheumatology and clinical immunology,graduate school of medicine,kyoto university,kyoto, Japan, institute of rheumatology,tokyo women's medical university,tokyo, Japan, laboratory for international alliance,cgm,riken,yokohama, Japan, unit of statistical genetics,center for genomic medicine,graduate school of medicine,kyoto university,kyoto, Japan, laboratory of molecular medicine,human genome center,institute of medical science,university of tokyo,tokyo, Japan, laboratory for autoimmune diseases,center for genomic medicine (cgm),riken,yokohama,japan,department of allergy and rheumatology,graduate school of medicine,university of tokyo,tokyo, Japan
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Authors
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