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Gene expression and chromosomal location for susceptibility to Sjögren's syndrome

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dc.creatorPérez, Paolaspa
dc.creatorAnaya, Juan-Manuelspa
dc.creatorAguilera, Sergiospa
dc.creatorUrzúa, Ulisesspa
dc.creatorMunroe, Davidspa
dc.creatorMolina, Claudiospa
dc.creatorHermoso, Marcela A.spa
dc.creatorCherry, James Michaelspa
dc.creatorAlliende, Ceciliaspa
dc.creatorOlea, Nancyspa
dc.creatorRuiz-Narváez, Edwardspa
dc.creatorGonzález, María-Julietaspa
dc.date.accessioned2020-05-25T23:55:53Z
dc.date.available2020-05-25T23:55:53Z
dc.date.created2009spa
dc.description.abstractPrimary Sjögren's syndrome (SS) is a chronic inflammatory autoimmune disease affecting mainly the exocrine glands. Its physio-pathology is poorly understood and most of the knowledge has been related to the inflammatory component. The aim of this work was to evaluate gene expression profiling in fractions enriched in epithelial cells from labial salivary glands (LSGs) of patients with primary SS and identify chromosomal regions harboring susceptibility genes expressed in epithelial cells. A combined approach of gene expression and genome-wide association study was used. Enriched epithelial cell fractions were obtained from LSGs of patients and controls. Amplified total RNA was labeled and hybridized to 10K cDNA microarrays. Results were normalized and subjected to statistical and functional analysis. A genome-wide microsatellite screen at 10 cM resolution (393 markers) was performed. In salivary gland-epithelial cells from patients 528 genes were expressed differentially in comparison to controls. Pathways not previously linked to disease were found to be altered. Twenty-eight and 15 genes associated with apoptosis were up-regulated and down regulated, respectively. Interferon-related genes, most of which participated in interferon signaling, were also found to be up-regulated. From the genome-wide screen, 6 markers showed evidence of highly significant association with the disease. Of these, five loci harbor genes differentially expressed in patients LSG-epithelial cells. Our results show that in enriched gland-epithelial cells of pSS, both pro-apoptotic/anti-apoptotic and interferon signaling inhibition/stimulation balances may occur. Genes found over-expressed in epithelial cells are candidates for disease susceptibility. © 2009 Elsevier Ltd. All rights reserved.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.jaut.2009.05.001
dc.identifier.issn10959157
dc.identifier.issn08968411
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22251
dc.language.isoengspa
dc.relation.citationEndPage108
dc.relation.citationIssueNo. 2
dc.relation.citationStartPage99
dc.relation.citationTitleJournal of Autoimmunity
dc.relation.citationVolumeVol. 33
dc.relation.ispartofJournal of Autoimmunity, ISSN:10959157, 08968411, Vol.33, No.2 (2009); pp. 99-108spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-68249087935&doi=10.1016%2fj.jaut.2009.05.001&partnerID=40&md5=2e474b671c82dc5adc055d850fd33f2espa
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.keywordComplementary DNAspa
dc.subject.keywordHumaneng
dc.subject.keywordGenomic DNAspa
dc.subject.keywordInterferonspa
dc.subject.keywordRNAspa
dc.subject.keywordAdultspa
dc.subject.keywordAgedspa
dc.subject.keywordApoptosisspa
dc.subject.keywordArticlespa
dc.subject.keywordChromosomal localizationspa
dc.subject.keywordControlled studyspa
dc.subject.keywordDNA microarrayspa
dc.subject.keywordEpithelium cellspa
dc.subject.keywordFemalespa
dc.subject.keywordGene amplificationspa
dc.subject.keywordGene expression profilingspa
dc.subject.keywordGene expression regulationspa
dc.subject.keywordGene locusspa
dc.subject.keywordGene overexpressionspa
dc.subject.keywordGenetic susceptibilityspa
dc.subject.keywordGenome analysisspa
dc.subject.keywordHumanspa
dc.subject.keywordHuman cellspa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordMicrosatellite markerspa
dc.subject.keywordPriority journalspa
dc.subject.keywordReverse transcription polymerase chain reactionspa
dc.subject.keywordRNA hybridizationspa
dc.subject.keywordSalivary glandspa
dc.subject.keywordSignal transductionspa
dc.subject.keywordSjoegren syndromespa
dc.subject.keywordAdultspa
dc.subject.keywordAgedspa
dc.subject.keywordAllelesspa
dc.subject.keywordChromosomeseng
dc.subject.keywordEpithelial Cellsspa
dc.subject.keywordFemalespa
dc.subject.keywordGene Expressionspa
dc.subject.keywordGene Expression Profilingspa
dc.subject.keywordGene Frequencyspa
dc.subject.keywordGenetic Predisposition to Diseasespa
dc.subject.keywordGenome-Wide Association Studyspa
dc.subject.keywordGenotypespa
dc.subject.keywordHumansspa
dc.subject.keywordMicrosatellite Repeatsspa
dc.subject.keywordMiddle Agedspa
dc.subject.keywordSalivary Glandsspa
dc.subject.keywordSjogren's Syndromespa
dc.subject.keywordApoptosisspa
dc.subject.keywordCdna microarrayspa
dc.subject.keywordEpithelial cellsspa
dc.subject.keywordGenome-wide association studyspa
dc.subject.keywordInterferonspa
dc.subject.keywordSjögren's syndromespa
dc.titleGene expression and chromosomal location for susceptibility to Sjögren's syndromespa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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