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A genome-wide association study identified AFF1 as a susceptibility locus for systemic lupus eyrthematosus in Japanese
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نویسنده
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okada y. ,shimane k. ,kochi y. ,tahira t. ,suzuki a. ,higasa k. ,takahashi a. ,horita t. ,atsumi t. ,ishii t. ,okamoto a. ,fujio k. ,hirakata m. ,amano h. ,kondo y. ,ito s. ,takada k. ,mimori a. ,saito k. ,kamachi m. ,kawaguchi y. ,ikari k. ,mohammed o.w. ,matsuda k. ,terao c. ,ohmura k. ,myouzen k. ,hosono n. ,tsunoda t. ,nishimoto n. ,mimori t. ,matsuda f. ,tanaka y. ,sumida t. ,yamanaka h. ,takasaki y. ,koike t. ,horiuchi t. ,hayashi k. ,kubo m. ,kamatani n. ,yamada r. ,nakamura y. ,yamamoto k.
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منبع
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plos genetics - 2012 - دوره : 8 - شماره : 1
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چکیده
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Systemic lupus erythematosus (sle) is an autoimmune disease that causes multiple organ damage. although recent genome-wide association studies (gwas) have contributed to discovery of sle susceptibility genes,few studies has been performed in asian populations. here,we report a gwas for sle examining 891 sle cases and 3,384 controls and multi-stage replication studies examining 1,387 sle cases and 28,564 controls in japanese subjects. considering that expression quantitative trait loci (eqtls) have been implicated in genetic risks for autoimmune diseases,we integrated an eqtl study into the results of the gwas. we observed enrichments of cis-eqtl positive loci among the known sle susceptibility loci (30.8%) compared to the genome-wide snps (6.9%). in addition,we identified a novel association of a variant in the af4/fmr2 family,member 1 (aff1) gene at 4q21 with sle susceptibility (rs340630; p = 8.3×10 -9,odds ratio = 1.21). the risk a allele of rs340630 demonstrated a cis-eqtl effect on the aff1 transcript with enhanced expression levels (p&0.05). as aff1 transcripts were prominently expressed in cd4 + and cd19 + peripheral blood lymphocytes,up-regulation of aff1 may cause the abnormality in these lymphocytes,leading to disease onset. © 2012 okada et al.
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آدرس
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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, 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, division of genome analysis,research center for genetic information,medical institute of bioregulation,kyushu university,fukuoka, Japan, laboratory for autoimmune diseases,center for genomic medicine (cgm),riken,yokohama, Japan, laboratory for statistical analysis,cgm,riken,yokohama, Japan, laboratory for statistical analysis,cgm,riken,yokohama, Japan, department of medicine ii,hokkaido university graduate school of medicine,sapporo, Japan, department of medicine ii,hokkaido university graduate school of medicine,sapporo, Japan, department of hematology and rheumatology,tohoku university graduate school of medicine,sendai, Japan, department of allergy and rheumatology,graduate school of medicine,university of tokyo,tokyo, Japan, department of allergy and rheumatology,graduate school of medicine,university of tokyo,tokyo, Japan, division of rheumatology,department of internal medicine,keio university school of medicine,tokyo, Japan, department of internal medicine and rheumatology,juntendo university school of medicine,tokyo, Japan, division of clinical immunology,doctoral program in clinical sciences,graduate school of comprehensive human science,university of tsukuba,tsukuba, Japan, division of clinical immunology,doctoral program in clinical sciences,graduate school of comprehensive human science,university of tsukuba,tsukuba, Japan, departments of medicine and rheumatology,graduate school,tokyo medical and dental university,tokyo, Japan, division of rheumatic diseases,national center for global health and medicine,tokyo, Japan, first department of internal medicine,university of occupational and environmental health,kitakyushu, Japan, department of immunology and rheumatology,unit of translational medicine,graduate school of biomedical sciences,nagasaki university,nagasaki, Japan, institute of rheumatology,tokyo women's medical university,tokyo, Japan, institute of rheumatology,tokyo women's medical university,tokyo, Japan, laboratory of molecular medicine,human genome center,institute of medical science,university of tokyo,tokyo, Japan, laboratory of molecular medicine,human genome center,institute of medical science,university of tokyo,tokyo, Japan, department of rheumatology and clinical immunology,graduate school of medicine,kyoto university,kyoto,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, laboratory for genotyping development,cgm,riken,yokohama, Japan, laboratory for medical informatics,cgm,riken,yokohama, Japan, laboratory of immune regulation,wakayama medical university,wakayama, Japan, department of rheumatology and clinical immunology,graduate school of medicine,kyoto university,kyoto, Japan, center for genomic medicine,kyoto university graduate school of medicine,kyoto, Japan, first department of internal medicine,university of occupational and environmental health,kitakyushu, Japan, division of clinical immunology,doctoral program in clinical sciences,graduate school of comprehensive human science,university of tsukuba,tsukuba, Japan, institute of rheumatology,tokyo women's medical university,tokyo, Japan, department of internal medicine and rheumatology,juntendo university school of medicine,tokyo, Japan, department of medicine ii,hokkaido university graduate school of medicine,sapporo, Japan, department of medicine and biosystemic science,kyushu university graduate school of medical sciences,fukuoka, Japan, division of genome analysis,research center for genetic information,medical institute of bioregulation,kyushu university,fukuoka, Japan, laboratory for genotyping development,cgm,riken,yokohama, Japan, laboratory for statistical analysis,cgm,riken,yokohama, Japan, laboratory for autoimmune diseases,center for genomic medicine (cgm),riken,yokohama,japan,center for genomic medicine,kyoto university graduate school of medicine,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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