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Evaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases

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dc.creatorAnaya, Juan-Manuelspa
dc.creatorKim-Howard, Xanaspa
dc.creatorPrahalad, Sampathspa
dc.creatorCherñavsky, Alejandraspa
dc.creatorCañas, Carlosspa
dc.creatorRojas-Villarraga, Adrianaspa
dc.creatorBohnsack, Johnspa
dc.creatorJonsson, Rolandspa
dc.creatorBolstad, Anne Isinespa
dc.creatorBrun, Johan G.spa
dc.creatorCobb, Bethspa
dc.creatorMoser, Kathy L.spa
dc.creatorJames, Judith A.spa
dc.creatorHarley, John B.spa
dc.creatorNath, Swapan K.spa
dc.date.accessioned2020-05-26T00:00:00Z
dc.date.available2020-05-26T00:00:00Z
dc.date.created2012spa
dc.description.abstractMany autoimmune diseases (ADs) share similar underlying pathology and have a tendency to cluster within families, supporting the involvement of shared susceptibility genes. To date, most of the genetic variants associated with systemic lupus erythematosus (SLE) susceptibility also show association with others ADs. ITGAM and its associated 'predisposing' variant (rs1143679, Arg77His), predicted to alter the tertiary structures of the ligand-binding domain of ITGAM, may play a key role for SLE pathogenesis. The aim of this study is to examine whether the ITGAM variant is also associated with other ADs. We evaluated case-control association between rs1143679 and ADs (N=18,457) including primary Sjögren's syndrome, systemic sclerosis, multiple sclerosis, rheumatoid arthritis, juvenile idiopathic arthritis, celiac disease, and type-1 diabetes. We also performed meta-analyses using our data in addition to available published data. Although the risk allele 'A' is relatively more frequent among cases for each disease, it was not significantly associated with any other ADs tested in this study. However, the meta-analysis for systemic sclerosis was associated with rs1143679 (p meta=0.008). In summary, this study explored the role of ITGAM in general autoimmunity in seven non-lupus ADs, and only found association for systemic sclerosis when our results were combined with published results. Thus ITGAM may not be a general autoimmunity gene but this variant may be specifically associated with SLE and systemic sclerosis. © 2011 Elsevier B.V.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.autrev.2011.07.007
dc.identifier.issn15689972
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23144
dc.language.isoengspa
dc.relation.citationEndPage280
dc.relation.citationIssueNo. 4
dc.relation.citationStartPage276
dc.relation.citationTitleAutoimmunity Reviews
dc.relation.citationVolumeVol. 11
dc.relation.ispartofAutoimmunity Reviews, ISSN:15689972, Vol.11, No.4 (2012); pp. 276-280spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84857037528&doi=10.1016%2fj.autrev.2011.07.007&partnerID=40&md5=e13296d2d09494949a86b3e96a275f5dspa
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.keywordAlpha integrinspa
dc.subject.keywordAlpha integrin mspa
dc.subject.keywordsingle nucleotideeng
dc.subject.keywordcd11beng
dc.subject.keywordUnclassified drugspa
dc.subject.keywordAutoimmune diseasespa
dc.subject.keywordCeliac diseasespa
dc.subject.keywordEthnicityspa
dc.subject.keywordGenetic associationspa
dc.subject.keywordGenetic variabilityspa
dc.subject.keywordGenotypespa
dc.subject.keywordHumanspa
dc.subject.keywordInsulin dependent diabetes mellitusspa
dc.subject.keywordJuvenile rheumatoid arthritisspa
dc.subject.keywordPower analysisspa
dc.subject.keywordReviewspa
dc.subject.keywordRheumatoid arthritisspa
dc.subject.keywordRiskspa
dc.subject.keywordSingle nucleotide polymorphismspa
dc.subject.keywordSjoegren syndromespa
dc.subject.keywordStatistical analysisspa
dc.subject.keywordSystemic lupus erythematosusspa
dc.subject.keywordSystemic sclerosisspa
dc.subject.keywordAntigenseng
dc.subject.keywordAutoimmune diseasesspa
dc.subject.keywordDna mutational analysisspa
dc.subject.keywordEuropespa
dc.subject.keywordGene frequencyspa
dc.subject.keywordGenetic association studiesspa
dc.subject.keywordGenetic predisposition to diseasespa
dc.subject.keywordGenotypespa
dc.subject.keywordHumansspa
dc.subject.keywordLatin americaspa
dc.subject.keywordPolymorphismeng
dc.subject.keywordAutoimmune diseasesspa
dc.subject.keywordGenetic susceptibilityspa
dc.subject.keywordItgamspa
dc.titleEvaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseasesspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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