Ítem
Solo Metadatos

Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus

Mostrar el registro sencillo de la publicación
dc.creatorAdrianto I.spa
dc.creatorWen F.spa
dc.creatorTempleton A.spa
dc.creatorWiley G.spa
dc.creatorKing J.B.spa
dc.creatorLessard C.J.spa
dc.creatorBates J.S.spa
dc.creatorHu Y.spa
dc.creatorKelly J.A.spa
dc.creatorKaufman K.M.spa
dc.creatorGuthridge J.M.spa
dc.creatorAlarcón-Riquelme M.E.spa
dc.creatorAnaya, Juan-Manuelspa
dc.creatorBae S.-C.spa
dc.creatorBang S.-Y.spa
dc.creatorBoackle S.A.spa
dc.creatorBrown E.E.spa
dc.creatorPetri M.A.spa
dc.creatorGallant C.spa
dc.creatorRamsey-Goldman R.spa
dc.creatorReveille J.D.spa
dc.creatorVila L.M.spa
dc.creatorCriswell L.A.spa
dc.creatorEdberg J.C.spa
dc.creatorFreedman B.I.spa
dc.creatorGregersen P.K.spa
dc.creatorGilkeson G.S.spa
dc.creatorJacob C.O.spa
dc.creatorJames J.A.spa
dc.creatorKamen D.L.spa
dc.creatorKimberly R.P.spa
dc.creatorMartin J.spa
dc.creatorMerrill J.T.spa
dc.creatorNiewold T.B.spa
dc.creatorPark S.-Y.spa
dc.creatorPons-Estel B.A.spa
dc.creatorScofield R.H.spa
dc.creatorStevens A.M.spa
dc.creatorTsao B.P.spa
dc.creatorVyse T.J.spa
dc.creatorLangefeld C.D.spa
dc.creatorHarley J.B.spa
dc.creatorMoser K.L.spa
dc.creatorWebb C.F.spa
dc.creatorHumphrey M.B.spa
dc.creatorMontgomery C.G.spa
dc.creatorGaffney P.M.spa
dc.date.accessioned2020-05-25T23:57:16Z
dc.date.available2020-05-25T23:57:16Z
dc.date.created2011spa
dc.description.abstractSystemic lupus erythematosus (SLE, MIM152700) is an autoimmune disease characterized by self-reactive antibodies resulting in systemic inflammation and organ failure. TNFAIP3, encoding the ubiquitin-modifying enzyme A20, is an established susceptibility locus for SLE. By fine mapping and genomic re-sequencing in ethnically diverse populations, we fully characterized the TNFAIP3 risk haplotype and identified a TT and gt;A polymorphic dinucleotide (deletion T followed by a T to A transversion) associated with SLE in subjects of European (P = 1.58 × 10-8, odds ratio = 1.70) and Korean (P = 8.33 × 10-10, odds ratio = 2.54) ancestry. This variant, located in a region of high conservation and regulatory potential, bound a nuclear protein complex composed of NF-?B subunits with reduced avidity. Further, compared with the non-risk haplotype, the haplotype carrying this variant resulted in reduced TNFAIP3 mRNA and A20 protein expression. These results establish this TT and gt;A variant as the most likely functional polymorphism responsible for the association between TNFAIP3 and SLE. © 2011 Nature America, Inc. All rights reserved.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1038/ng.766
dc.identifier.issn10614036
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22638
dc.language.isoengspa
dc.relation.citationEndPage258
dc.relation.citationIssueNo. 3
dc.relation.citationStartPage253
dc.relation.citationTitleNature Genetics
dc.relation.citationVolumeVol. 43
dc.relation.ispartofNature Genetics, ISSN:10614036, Vol.43, No.3 (2011); pp. 253-258spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-79952192654&doi=10.1038%2fng.766&partnerID=40&md5=54e92b01b1b06baec6fb9512b5efeee9spa
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.keywordImmunoglobulin enhancer binding proteinspa
dc.subject.keywordsingle nucleotideeng
dc.subject.keywordMessenger rnaspa
dc.subject.keywordsystemiceng
dc.subject.keywordProtein subunitspa
dc.subject.keywordTranscription factorspa
dc.subject.keywordTumor necrosis factor alpha inducible protein 3spa
dc.subject.keywordUnclassified drugspa
dc.subject.keywordAfrican americanspa
dc.subject.keywordAsianspa
dc.subject.keywordChromosome 6spa
dc.subject.keywordChromosome analysisspa
dc.subject.keywordControlled studyspa
dc.subject.keywordEthnicityspa
dc.subject.keywordGene deletionspa
dc.subject.keywordGene identificationspa
dc.subject.keywordGene locusspa
dc.subject.keywordGene mappingspa
dc.subject.keywordGenetic associationspa
dc.subject.keywordGenetic riskspa
dc.subject.keywordGenetic susceptibilityspa
dc.subject.keywordGenetic variabilityspa
dc.subject.keywordGenome analysisspa
dc.subject.keywordHaplotypespa
dc.subject.keywordHispanicspa
dc.subject.keywordHumanspa
dc.subject.keywordNucleotide sequencespa
dc.subject.keywordPriority journalspa
dc.subject.keywordPromoter regionspa
dc.subject.keywordProtein expressionspa
dc.subject.keywordReviewspa
dc.subject.keywordSingle nucleotide polymorphismspa
dc.subject.keywordSystemic lupus erythematosusspa
dc.subject.keywordBase sequencespa
dc.subject.keywordFemalespa
dc.subject.keywordHaplotypesspa
dc.subject.keywordHumansspa
dc.subject.keywordIntracellular signaling peptides and proteinsspa
dc.subject.keywordLinkage disequilibriumspa
dc.subject.keywordLupus erythematosuseng
dc.subject.keywordMalespa
dc.subject.keywordMolecular sequence dataspa
dc.subject.keywordNuclear proteinsspa
dc.subject.keywordPolymorphismeng
dc.titleAssociation of a functional variant downstream of TNFAIP3 with systemic lupus erythematosusspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
Archivos
Colecciones
Artículos