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Evaluation of TRAF6 in a large multiancestral lupus cohort

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dc.creatorNamjou, Bahramspa
dc.creatorChoi, Chan?Bumspa
dc.creatorHarley, Isaac T. W.spa
dc.creatorAlarcón?Riquelme, Marta E.spa
dc.creatorKelly, Jennifer A.spa
dc.creatorGlenn, Stuart B.spa
dc.creatorOjwang, Joshua O.spa
dc.creatorAdler, Adamspa
dc.creatorKim, Kwangwoospa
dc.creatorGallant, Caroline J.spa
dc.creatorBoackle, Susan A.spa
dc.creatorCriswell, Lindsey A.spa
dc.creatorKimberly, Robert P.spa
dc.creatorBrown, Elizabeth E.spa
dc.creatorEdberg, Jeffreyspa
dc.creatorAlarcón, Graciela S.spa
dc.creatorStevens, Anne M.spa
dc.creatorJacob, Chaim O.spa
dc.creatorGilkeson, Gary S.spa
dc.creatorKamen, Diane L.spa
dc.creatorTsao, Betty P.spa
dc.creatorAnaya, Juan-Manuel
dc.creatorKim, Eun?Mispa
dc.creatorPark, So?Yeonspa
dc.creatorSung, Yoon?Kyoungspa
dc.creatorGuthridge, Joel M.spa
dc.creatorMerrill, Joan T.spa
dc.creatorPetri, Michellespa
dc.creatorRamsey?Goldman, Rosalindspa
dc.creatorVilá, Luis M.spa
dc.creatorNiewold, Timothy B.spa
dc.creatorMartin, Javierspa
dc.creatorPons?Estel, Bernardo A.spa
dc.creatorVyse, Timothy J.spa
dc.creatorFreedman, Barry I.spa
dc.creatorMoser, Kathy L.spa
dc.creatorGaffney, Patrick M.spa
dc.creatorWilliams, Adrienne H.spa
dc.creatorComeau, Mary E.spa
dc.creatorReveille, John D.spa
dc.creatorKang, Changwonspa
dc.creatorJames, Judith A.spa
dc.creatorScofield, R. Halspa
dc.creatorLangefeld, Carl D.spa
dc.creatorKaufman, Kenneth M.spa
dc.creatorHarley, John B.spa
dc.creatorBae, Sang?Cheolspa
dc.date.accessioned2020-05-25T23:59:11Z
dc.date.available2020-05-25T23:59:11Z
dc.date.created2012spa
dc.description.abstractObjective Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with significant immune system aberrations resulting from complex heritable genetics as well as environmental factors. We undertook to study the role of TRAF6 as a candidate gene for SLE, since it plays a major role in several signaling pathways that are important for immunity and organ development. Methods Fifteen single-nucleotide polymorphisms (SNPs) across TRAF6 were evaluated in 7,490 SLE patients and 6,780 control subjects from different ancestries. Population-based case-control association analyses and meta-analyses were performed. P values, false discovery rate q values, and odds ratios (ORs) with 95% confidence intervals (95% CIs) were calculated. Results Evidence of associations was detected in multiple SNPs. The best overall P values were obtained for SNPs rs5030437 and rs4755453 (P = 7.85 × 10 -5 and P = 4.73 × 10 -5, respectively) without significant heterogeneity among populations (P = 0.67 and P = 0.50, respectively, in Q statistic). In addition, SNP rs540386, which was previously reported to be associated with rheumatoid arthritis (RA), was found to be in linkage disequilibrium with these 2 SNPs (r 2 = 0.95) and demonstrated evidence of association with SLE in the same direction (meta-analysis P = 9.15 × 10 -4, OR 0.89 [95% CI 0.83-0.95]). The presence of thrombocytopenia improved the overall results in different populations (meta-analysis P = 1.99 × 10 -6, OR 0.57 [95% CI 0.45-0.72], for rs5030470). Finally, evidence of family-based association in 34 African American pedigrees with the presence of thrombocytopenia was detected in 1 available SNP (rs5030437) with a Z score magnitude of 2.28 (P = 0.02) under a dominant model. Conclusion Our data indicate the presence of association of TRAF6 with SLE, consistent with the previous report of association with RA. These data provide further support for the involvement of TRAF6 in the pathogenesis of autoimmunity. Copyright © 2012 by the American College of Rheumatology.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1002/art.34361
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22999
dc.language.isoengspa
dc.relation.citationEndPage1969
dc.relation.citationIssueNo. 6
dc.relation.citationStartPage1960
dc.relation.citationTitleArthritis and Rheumatism
dc.relation.citationVolumeVol. 64
dc.relation.ispartofArthritis and Rheumatism, Vol.64, No.6 (2012); pp. 1960-1969spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84861829947&doi=10.1002%2fart.34361&partnerID=40&md5=81773a26674913ac32a5a908ad336b4espa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordTumor necrosis factor receptor associated factor 6spa
dc.subject.keywordsystemiceng
dc.subject.keywordArticlespa
dc.subject.keywordCalculationspa
dc.subject.keywordControlled studyspa
dc.subject.keywordEthnicityspa
dc.subject.keywordFemalespa
dc.subject.keywordGene linkage disequilibriumspa
dc.subject.keywordGenetic associationspa
dc.subject.keywordGenetic heterogeneityspa
dc.subject.keywordGenotypespa
dc.subject.keywordHeredityspa
dc.subject.keywordHumanspa
dc.subject.keywordImmunityspa
dc.subject.keywordImmunopathogenesisspa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordMalespa
dc.subject.keywordMeta analysis (topic)spa
dc.subject.keywordOrganogenesisspa
dc.subject.keywordPedigree analysisspa
dc.subject.keywordPopulation based case control studyspa
dc.subject.keywordPriority journalspa
dc.subject.keywordRheumatoid arthritisspa
dc.subject.keywordSignal transductionspa
dc.subject.keywordSingle nucleotide polymorphismspa
dc.subject.keywordSystemic lupus erythematosusspa
dc.subject.keywordThrombocytopeniaspa
dc.subject.keywordAllelesspa
dc.subject.keywordCase-control studiesspa
dc.subject.keywordCohort studiesspa
dc.subject.keywordFemalespa
dc.subject.keywordGene frequencyspa
dc.subject.keywordGenetic association studiesspa
dc.subject.keywordGenetic predisposition to diseasespa
dc.subject.keywordGenotypespa
dc.subject.keywordHaplotypesspa
dc.subject.keywordHumansspa
dc.subject.keywordLupus erythematosuseng
dc.subject.keywordMalespa
dc.subject.keywordPolymorphismeng
dc.subject.keywordTnf receptor-associated factor 6spa
dc.titleEvaluation of TRAF6 in a large multiancestral lupus cohortspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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