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Genetic association of CD247 (CD3?) with SLE in a large-scale multiethnic study

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dc.creatorMartins, Mspa
dc.creatorWilliams, A Hspa
dc.creatorComeau, Mspa
dc.creatorMarion, Mspa
dc.creatorZiegler, J Tspa
dc.creatorFreedman, B Ispa
dc.creatorMerrill, J Tspa
dc.creatorGlenn, S Bspa
dc.creatorKelly, J Aspa
dc.creatorSivils, K Mspa
dc.creatorJames, J Aspa
dc.creatorGuthridge, J Mspa
dc.creatorAlarcón-Riquelme, M Espa
dc.creatorBae, S-Cspa
dc.creatorKim, J-Hspa
dc.creatorKim, Dspa
dc.creatorAnaya, Juan-Manuelspa
dc.creatorBoackle, S Aspa
dc.creatorCriswell, L Aspa
dc.creatorKimberly, R Pspa
dc.creatorAlarcón, G Sspa
dc.creatorBrown, E Espa
dc.creatorVilá, L Mspa
dc.creatorPetri, M Aspa
dc.creatorRamsey-Goldman, Rspa
dc.creatorNiewold, T Bspa
dc.creatorTsao, B Pspa
dc.creatorGilkeson, G Sspa
dc.creatorKamen, D Lspa
dc.creatorJacob, C Ospa
dc.creatorStevens, A Mspa
dc.creatorGaffney, P Mspa
dc.creatorHarley, J Bspa
dc.creatorLangefeld, C Dspa
dc.creatorFesel, Cspa
dc.date.accessioned2020-05-26T00:09:06Z
dc.date.available2020-05-26T00:09:06Z
dc.date.created2015spa
dc.description.abstractA classic T-cell phenotype in systemic lupus erythematosus (SLE) is the downregulation and replacement of the CD3? chain that alters T-cell receptor signaling. However, genetic associations with SLE in the human CD247 locus that encodes CD3? are not well established and require replication in independent cohorts. Our aim was therefore to examine, localize and validate CD247-SLE association in a large multiethnic population. We typed 44 contiguous CD247 single-nucleotide polymorphisms (SNPs) in 8922 SLE patients and 8077 controls from four ethnically distinct populations. The strongest associations were found in the Asian population (11 SNPs in intron 1, 4.99 × 10-4 less than P less than 4.15 × 10-2), where we further identified a five-marker haplotype (rs12141731-rs2949655-rs16859085-rs12144621-rs858554; G-G-A-G-A; P less than inf>hap less than /inf> = 2.12 × 10-5) that exceeded the most associated single SNP rs858554 (minor allele frequency in controls=13%; P=4.99 × 10-4, odds ratio=1.32) in significance. Imputation and subsequent association analysis showed evidence of association (P less than 0.05) at 27 additional SNPs within intron 1. Cross-ethnic meta-analysis, assuming an additive genetic model adjusted for population proportions, showed five SNPs with significant P-values (1.40 × 10-3 less than P less than 3.97 × 10-2), with one (rs704848) remaining significant after Bonferroni correction (P less than inf>meta less than /inf> =2.66 × 10-2). Our study independently confirms and extends the association of SLE with CD247, which is shared by various autoimmune disorders and supports a common T-cell-mediated mechanism. © 2015 Macmillan Publishers Limited.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1038/gene.2014.73
dc.identifier.issn14664879
dc.identifier.issn14765470
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/24137
dc.language.isoengspa
dc.publisherNature Publishing Groupspa
dc.relation.citationEndPage150
dc.relation.citationIssueNo. 2
dc.relation.citationStartPage142
dc.relation.citationTitleGenes and Immunity
dc.relation.citationVolumeVol. 16
dc.relation.ispartofGenes and Immunity, ISSN:14664879, 14765470, Vol.16, No.2 (2015); pp. 142-150spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84938552405&doi=10.1038%2fgene.2014.73&partnerID=40&md5=43f256c80a96fdd4f209c9ea1a3c2690spa
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.keywordCD247 antigenspa
dc.subject.keywordCD3eng
dc.subject.keywordSingle Nucleotideeng
dc.subject.keywordT lymphocyte antigenspa
dc.subject.keywordzeta chaineng
dc.subject.keywordSystemiceng
dc.subject.keywordUnclassified drugspa
dc.subject.keywordCD3 antigenspa
dc.subject.keywordCD3 antigeneng
dc.subject.keywordAdultspa
dc.subject.keywordAfricanspa
dc.subject.keywordAmerican Indianspa
dc.subject.keywordArticlespa
dc.subject.keywordAsianspa
dc.subject.keywordChromosome 1spa
dc.subject.keywordControlled studyspa
dc.subject.keywordEthnic differencespa
dc.subject.keywordEuropeanspa
dc.subject.keywordFemalespa
dc.subject.keywordGene frequencyspa
dc.subject.keywordGene locusspa
dc.subject.keywordGenetic associationspa
dc.subject.keywordGenetic modelspa
dc.subject.keywordGenetic variabilityspa
dc.subject.keywordGenotypespa
dc.subject.keywordHaplotypespa
dc.subject.keywordHaplotype mapspa
dc.subject.keywordHeterozygosityspa
dc.subject.keywordHispanicspa
dc.subject.keywordHumanspa
dc.subject.keywordImmunopathogenesisspa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordMalespa
dc.subject.keywordMolecular pathologyspa
dc.subject.keywordPriority journalspa
dc.subject.keywordSingle nucleotide polymorphismspa
dc.subject.keywordSystemic lupus erythematosusspa
dc.subject.keywordAsian continental ancestry groupspa
dc.subject.keywordCase control studyspa
dc.subject.keywordCaucasianspa
dc.subject.keywordEthnologyspa
dc.subject.keywordGenetic association studyspa
dc.subject.keywordGenetic predispositionspa
dc.subject.keywordGeneticsspa
dc.subject.keywordImmunologyspa
dc.subject.keywordSingle nucleotide polymorphismspa
dc.subject.keywordSystemic lupus erythematosusspa
dc.subject.keywordT lymphocytespa
dc.subject.keywordAdultspa
dc.subject.keywordAntigenseng
dc.subject.keywordAsian Continental Ancestry Groupspa
dc.subject.keywordCase-Control Studiesspa
dc.subject.keywordEuropean Continental Ancestry Groupspa
dc.subject.keywordFemalespa
dc.subject.keywordGenetic Association Studiesspa
dc.subject.keywordGenetic Predisposition to Diseasespa
dc.subject.keywordHaplotypesspa
dc.subject.keywordHumansspa
dc.subject.keywordLupus Erythematosuseng
dc.subject.keywordMalespa
dc.subject.keywordPolymorphismeng
dc.subject.keywordT-Lymphocytesspa
dc.titleGenetic association of CD247 (CD3?) with SLE in a large-scale multiethnic studyspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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