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A functional haplotype of UBE2L3 confers risk for systemic lupus erythematosus

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dc.creatorWang, Sspa
dc.creatorAdrianto, Ispa
dc.creatorWiley, G Bspa
dc.creatorLessard, C Jspa
dc.creatorKelly, J Aspa
dc.creatorAdler, A Jspa
dc.creatorGlenn, S Bspa
dc.creatorWilliams, A Hspa
dc.creatorZiegler, J Tspa
dc.creatorComeau, M Espa
dc.creatorMarion, M Cspa
dc.creatorWakeland, B Espa
dc.creatorLiang, Cspa
dc.creatorKaufman, K Mspa
dc.creatorGuthridge, J Mspa
dc.creatorAlarcón-Riquelme, M Espa
dc.creatorAlarcón, G Sspa
dc.creatorAnaya, Juan-Manuelspa
dc.creatorBae, S-Cspa
dc.creatorKim, J-Hspa
dc.creatorJoo, Y Bspa
dc.creatorBoackle, S Aspa
dc.creatorBrown, E Espa
dc.creatorPetri, M Aspa
dc.creatorRamsey-Goldman, Rspa
dc.creatorReveille, J Dspa
dc.creatorVilá, L Mspa
dc.creatorCriswell, L Aspa
dc.creatorEdberg, J Cspa
dc.creatorFreedman, B Ispa
dc.creatorGilkeson, G Sspa
dc.creatorJacob, C Ospa
dc.creatorJames, J Aspa
dc.creatorKamen, D Lspa
dc.creatorKimberly, R Pspa
dc.creatorMartin, Jspa
dc.creatorMerrill, J Tspa
dc.creatorNiewold, T Bspa
dc.creatorPons-Estel, B Aspa
dc.creatorScofield, R Hspa
dc.creatorStevens, A Mspa
dc.creatorTsao, B Pspa
dc.creatorVyse, T Jspa
dc.creatorLangefeld, C Dspa
dc.creatorHarley, J Bspa
dc.creatorWakeland, E Kspa
dc.creatorMoser, K Lspa
dc.creatorMontgomery, C Gspa
dc.creatorGaffney, P Mspa
dc.date.accessioned2020-05-26T00:09:04Z
dc.date.available2020-05-26T00:09:04Z
dc.date.created2012spa
dc.description.abstractSystemic lupus erythematosus (SLE) is an autoimmune disease with diverse clinical manifestations characterized by the development of pathogenic autoantibodies manifesting in inflammation of target organs such as the kidneys, skin and joints. Genome-wide association studies have identified genetic variants in the UBE2L3 region that are associated with SLE in subjects of European and Asian ancestry. UBE2L3 encodes an ubiquitin-conjugating enzyme, UBCH7, involved in cell proliferation and immune function. In this study, we sought to further characterize the genetic association in the region of UBE2L3 and use molecular methods to determine the functional effect of the risk haplotype. We identified significant associations between variants in the region of UBE2L3 and SLE in individuals of European and Asian ancestry that exceeded a Bonferroni-corrected threshold (P and lt;1 × 10-4). A single risk haplotype was observed in all associated populations. Individuals harboring the risk haplotype display a significant increase in both UBE2L3 mRNA expression (P=0.0004) and UBCH7 protein expression (P=0.0068). The results suggest that variants carried on the SLE-associated UBE2L3 risk haplotype influence autoimmunity by modulating UBCH7 expression. © 2012 Macmillan Publishers Limited All rights reserved.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1038/gene.2012.6
dc.identifier.issn14664879
dc.identifier.issn14765470
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/24136
dc.language.isoengspa
dc.relation.citationEndPage387
dc.relation.citationIssueNo. 5
dc.relation.citationStartPage380
dc.relation.citationTitleGenes and Immunity
dc.relation.citationVolumeVol. 13
dc.relation.ispartofGenes and Immunity, ISSN:14664879, 14765470, Vol.13, No.5 (2012); pp. 380-387spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84864131309&doi=10.1038%2fgene.2012.6&partnerID=40&md5=e89e460ebff156dacc75826ba8766b6fspa
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.keywordMessenger RNAspa
dc.subject.keywordSingle Nucleotideeng
dc.subject.keywordUBE2L3 proteinspa
dc.subject.keywordSystemiceng
dc.subject.keywordUbiquitinspa
dc.subject.keywordUbiquitin conjugating enzymespa
dc.subject.keywordUnclassified drugspa
dc.subject.keywordArticlespa
dc.subject.keywordAutoimmunityspa
dc.subject.keywordFemalespa
dc.subject.keywordGene expressionspa
dc.subject.keywordGenetic analysisspa
dc.subject.keywordGenetic associationspa
dc.subject.keywordHaplotypespa
dc.subject.keywordHumanspa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordMalespa
dc.subject.keywordPriority journalspa
dc.subject.keywordRisk assessmentspa
dc.subject.keywordSystemic lupus erythematosusspa
dc.subject.keywordAfrican Americansspa
dc.subject.keywordAllelesspa
dc.subject.keywordAsian Continental Ancestry Groupspa
dc.subject.keywordEuropean Continental Ancestry Groupspa
dc.subject.keywordFemalespa
dc.subject.keywordGenetic Predisposition to Diseasespa
dc.subject.keywordHaplotypesspa
dc.subject.keywordHispanic Americansspa
dc.subject.keywordHumansspa
dc.subject.keywordLinkage Disequilibriumspa
dc.subject.keywordLupus Erythematosuseng
dc.subject.keywordMalespa
dc.subject.keywordPolymorphismeng
dc.subject.keywordUbiquitin-Conjugating Enzymesspa
dc.subject.keywordMulti-ethnic association studyspa
dc.subject.keywordSystemic lupus erythematosusspa
dc.subject.keywordUBCH7 expressionspa
dc.subject.keywordUBE2L3spa
dc.titleA functional haplotype of UBE2L3 confers risk for systemic lupus erythematosusspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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