Ítem
Solo Metadatos

Association of two independent functional risk haplotypes in TNIP1 with systemic lupus erythematosus

Mostrar el registro sencillo de la publicación
dc.creatorAdrianto, Indraspa
dc.creatorWang, Shaofengspa
dc.creatorWiley, Graham B.spa
dc.creatorLessard, Christopher J.spa
dc.creatorKelly, Jennifer A.spa
dc.creatorAdler, Adam J.spa
dc.creatorGlenn, Stuart B.spa
dc.creatorWilliams, Adrienne H.spa
dc.creatorZiegler, Julie T.spa
dc.creatorComeau, Mary E.spa
dc.creatorMarion, Miranda C.spa
dc.creatorWakeland, Benjamin E.spa
dc.creatorLiang, Chaoyingspa
dc.creatorKaufman, Kenneth M.spa
dc.creatorGuthridge, Joel M.spa
dc.creatorAlarcón?Riquelme, Marta E.spa
dc.creatorAlarcón, Graciela S.spa
dc.creatorAnaya, Juan-Manuel
dc.creatorBae, Sang?Cheolspa
dc.creatorKim, Jae?Hoonspa
dc.creatorBin Joo, Youngspa
dc.creatorBoackle, Susan A.spa
dc.creatorBrown, Elizabeth E.spa
dc.creatorPetri, Michellespa
dc.creatorRamsey?Goldman, Rosalindspa
dc.creatorReveille, John D.spa
dc.creatorVilá, Luis M.spa
dc.creatorCriswell, Lindsey A.spa
dc.creatorEdberg, Jeffrey C.spa
dc.creatorFreedman, Barry I.spa
dc.creatorGilkeson, Gary S.spa
dc.creatorJacob, Chaim O.spa
dc.creatorJames, Judith A.spa
dc.creatorKamen, Diane L.spa
dc.creatorKimberly, Robert P.spa
dc.creatorMartín, Javierspa
dc.creatorMerrill, Joan T.spa
dc.creatorNiewold, Timothy B.spa
dc.creatorPons?Estel, Bernardo A.spa
dc.creatorScofield, R. Halspa
dc.creatorStevens, Anne M.spa
dc.creatorTsao, Betty P.spa
dc.creatorVyse, Timothy J.spa
dc.creatorLangefeld, Carl D.spa
dc.creatorHarley, John B.spa
dc.creatorWakeland, Edward K.spa
dc.creatorMoser, Kathy L.spa
dc.creatorMontgomery, Courtney G.spa
dc.creatorGaffney, Patrick M.spa
dc.date.accessioned2020-05-25T23:59:07Z
dc.date.available2020-05-25T23:59:07Z
dc.date.created2012spa
dc.description.abstractObjective Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by autoantibody production and altered type I interferon expression. Genetic surveys and genome-wide association studies have identified >30 SLE susceptibility genes. One of these genes, TNIP1, encodes the ABIN1 protein. ABIN1 functions in the immune system by restricting NF-?B signaling. The present study was undertaken to investigate the genetic factors that influence association with SLE in genes that regulate the NF-?B pathway. Methods We analyzed a dense set of genetic markers spanning TNIP1 and TAX1BP1, as well as the TNIP1 homolog TNIP2, in case-control populations of diverse ethnic origins. TNIP1, TNIP2, and TAX1BP1 were fine-mapped in a total of 8,372 SLE cases and 7,492 healthy controls from European-ancestry, African American, Hispanic, East Asian, and African American Gullah populations. Levels of TNIP1 messenger RNA (mRNA) and ABIN1 protein in Epstein-Barr virus-transformed human B cell lines were analyzed by quantitative reverse transcription-polymerase chain reaction and Western blotting, respectively. Results We found significant associations between SLE and genetic variants within TNIP1, but not in TNIP2 or TAX1BP1. After resequencing and imputation, we identified 2 independent risk haplotypes within TNIP1 in individuals of European ancestry that were also present in African American and Hispanic populations. Levels of TNIP1 mRNA and ABIN1 protein were reduced among subjects with these haplotypes, suggesting that they harbor hypomorphic functional variants that influence susceptibility to SLE by restricting ABIN1 expression. Conclusion Our results confirm the association signals between SLE and TNIP1 variants in multiple populations and provide new insight into the mechanism by which TNIP1 variants may contribute to SLE pathogenesis. Copyright © 2012 by the American College of Rheumatology.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1002/art.34642
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22988
dc.language.isoengspa
dc.relation.citationEndPage3705
dc.relation.citationIssueNo. 11
dc.relation.citationStartPage3695
dc.relation.citationTitleArthritis and Rheumatism
dc.relation.citationVolumeVol. 64
dc.relation.ispartofArthritis and Rheumatism, Vol.64, No.11 (2012); pp. 3695-3705spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84868097411&doi=10.1002%2fart.34642&partnerID=40&md5=28d6fb86e83f951baba95cf0839eee0dspa
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.keywordTNIP1 proteinspa
dc.subject.keywordUnclassified drugspa
dc.subject.keywordAdultspa
dc.subject.keywordAfrican Americanspa
dc.subject.keywordArticlespa
dc.subject.keywordAsianspa
dc.subject.keywordB lymphocytespa
dc.subject.keywordCase control studyspa
dc.subject.keywordControlled studyspa
dc.subject.keywordEuropean Americanspa
dc.subject.keywordFemalespa
dc.subject.keywordGene expressionspa
dc.subject.keywordGene mappingspa
dc.subject.keywordGene sequencespa
dc.subject.keywordGenetic associationspa
dc.subject.keywordGenetic susceptibilityspa
dc.subject.keywordGenetic variabilityspa
dc.subject.keywordGenome analysisspa
dc.subject.keywordHaplotypespa
dc.subject.keywordHispanicspa
dc.subject.keywordHumanspa
dc.subject.keywordHuman cellspa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordMalespa
dc.subject.keywordNonhumanspa
dc.subject.keywordPriority journalspa
dc.subject.keywordRace differencespa
dc.subject.keywordReverse transcription polymerase chain reactionspa
dc.subject.keywordSystemic lupus erythematosusspa
dc.subject.keywordWestern blottingspa
dc.subject.keywordAdaptor Proteinseng
dc.subject.keywordAfrican Americansspa
dc.subject.keywordAsian Americansspa
dc.subject.keywordB-Lymphocytesspa
dc.subject.keywordCell Lineeng
dc.subject.keywordDNA-Binding Proteinsspa
dc.subject.keywordEuropean Continental Ancestry Groupspa
dc.subject.keywordFemalespa
dc.subject.keywordGenetic Markersspa
dc.subject.keywordGenetic Predisposition to Diseasespa
dc.subject.keywordHaplotypesspa
dc.subject.keywordHispanic Americansspa
dc.subject.keywordHumansspa
dc.subject.keywordIntracellular Signaling Peptides and Proteinsspa
dc.subject.keywordLupus Erythematosuseng
dc.subject.keywordMalespa
dc.subject.keywordNeoplasm Proteinsspa
dc.subject.keywordPolymorphismeng
dc.subject.keywordRisk Factorsspa
dc.subject.keywordUnited Statesspa
dc.titleAssociation of two independent functional risk haplotypes in TNIP1 with systemic lupus erythematosusspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
Archivos
Colecciones
Artículos