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

dc.audienceComunidad Universidad Icesi – Investigadoresspa
dc.citation.issue4
dc.citation.volume11
dc.contributor.authorPrahalad, Sampathspa
dc.coverage.spatialAmsterdam de Lat: 52 21 00 N degrees minutes Lat: 52.3500 decimal degrees Long: 004 55 00 E degrees minutes Long: 4.9167 decimal degrees
dc.date.accessioned2015-10-13T21:05:57Z
dc.date.available2015-10-13T21:05:57Z
dc.date.issued2012-02-12
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.eng
dc.format.extent4
dc.format.mediumDigitalspa
dc.format.mimetypeapplication/pdf
dc.identifier.doihttp://dx.doi.org/10.1016/j.autrev.2011.07.007
dc.identifier.instnameinstname:Universidad Icesi
dc.identifier.ismn0896-8411
dc.identifier.otherhttp://apps.webofknowledge.com/full_record.do?product=UA&search_mode=GeneralSearch&qid=29&SID=1CAmjdNsnrMlFqXnadP&page=1&doc=1spa
dc.identifier.reponamereponame:Biblioteca Digital
dc.identifier.repourlrepourl:https://repository.icesi.edu.co/
dc.identifier.urihttp://hdl.handle.net/10906/78472
dc.language.isoeng
dc.publisherElsevier
dc.publisher.departmentDepartamento de Ciencias Básicas Médicasspa
dc.publisher.facultyFacultad Ciencias de la Saludspa
dc.publisher.placeAmsterdam
dc.publisher.programMedicinaspa
dc.relation.citationendpage280
dc.relation.citationstartpage276
dc.relation.ispartofAutoimmunity Reviews, Volume 11, Issue 4 - 2012, Pages 276-280
dc.rightsEL AUTOR, expresa que la obra objeto de la presente autorización es original y la elaboró sin quebrantar ni suplantar los derechos de autor de terceros, y de tal forma, la obra es de su exclusiva autoría y tiene la titularidad sobre éste. PARÁGRAFO: en caso de queja o acción por parte de un tercero referente a los derechos de autor sobre el artículo, folleto o libro en cuestión, EL AUTOR, asumirá la responsabilidad total, y saldrá en defensa de los derechos aquí autorizados; para todos los efectos, la Universidad Icesi actúa como un tercero de buena fe. Esta autorización, permite a la Universidad Icesi, de forma indefinida, para que en los términos establecidos en la Ley 23 de 1982, la Ley 44 de 1993, leyes y jurisprudencia vigente al respecto, haga publicación de este con fines educativos. Toda persona que consulte ya sea la biblioteca o en medio electrónico podrá copiar apartes del texto citando siempre la fuentes, es decir el título del trabajo y el autor.spa
dc.rights.accessrightsinfo:eu-repo/semantics/openAccessspa
dc.rights.coarhttp://purl.org/coar/access_right/c_abf2
dc.rights.licenseAtribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0)
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject.proposalITGAMspa
dc.subject.proposalEnfermedades autoinmunesspa
dc.subject.proposalPredisposicion genéticaspa
dc.subject.proposalLupus eritematoso sistémicospa
dc.subject.proposalCiencias socio biomédicasspa
dc.subject.proposalMedical scienceseng
dc.subject.proposalEvaluación genéticaspa
dc.titleEvaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases.spa
dc.type.coarhttp://purl.org/coar/resource_type/c_2df8fbb1
dc.type.coarversionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.driverinfo:eu-repo/semantics/articleeng
dc.type.localArtículospa
dc.type.versioninfo:eu-repo/semantics/publishedVersion

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