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Bcl-2 antagonist killer 1 (BAK1) polymorphisms influence the risk of developing autoimmune rheumatic diseases in women

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dc.creatorDelgado-Vega, A Mspa
dc.creatorCastiblanco, Jspa
dc.creatorGómez, L Mspa
dc.creatorDiaz-Gallo, L-Mspa
dc.creatorRojas-Villarraga, Aspa
dc.creatorAnaya, Juan-Manuelspa
dc.date.accessioned2020-05-25T23:56:16Z
dc.date.available2020-05-25T23:56:16Z
dc.date.created2010spa
dc.description.abstractObjective: Bcl-2 antagonist killer 1 (BAK1) is a Bcl-2 family proapoptotic member suggested as a candidate gene for autoimmune diseases. The influence of BAK1 polymorphisms on the risk of developing autoimmune rheumatic diseases (AIRDs) in women was investigated. Methods: A total of 719 Colombian women were included in the present study: 209 had systemic lupus erythematosus, 99 primary Sjögren syndrome, 159 rheumatoid arthritis and 252 were healthy matched controls. Tag single nucleotide polymorphisms (SNPs) and potentially functional variants were typed by TaqMan allele discrimination assays. HLA-DRB1 and HLA-DQB1 typing was performed by reverse dot-blot hybridisation and linkage disequilibrium (LD) with BAK1 SNPs was assessed. Results: SNPs rs513349 (odds ratio (OR) 0.57, 95% CI 0.46 to 0.72, p= less than 0.001) and rs5745582 (OR 1.61, 95% CI 1.26 to 2.04, p= less than 0.001) were associated with the AIRDs included in this study. There was a significant increase of the rs513349G-rs561276C-rs5745582A (GCA) haplotype in each patient cohort as compared to controls (OR 1.95, 95% CI 1.50 to 2.54, p= less than 0.001). These SNPs were not in LD with HLA-DRB1 or HLA-DQB1 genes. Conclusions: The results indicate that the BAK1 polymorphisms influence the risk of acquiring AIRDs in the population studied and are consistent with the paradigm that autoimmune diseases are likely to share common susceptibility variants.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1136/ard.2008.100818
dc.identifier.issn00034967
dc.identifier.issn14682060
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22378
dc.language.isoengspa
dc.relation.citationEndPage465
dc.relation.citationIssueNo. 2
dc.relation.citationStartPage462
dc.relation.citationTitleAnnals of the Rheumatic Diseases
dc.relation.citationVolumeVol. 69
dc.relation.ispartofAnnals of the Rheumatic Diseases, ISSN:00034967, 14682060, Vol.69, No.2 (2010); pp. 462-465spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-75749146276&doi=10.1136%2fard.2008.100818&partnerID=40&md5=b0400ad936e08774ab4b68ad0ef7eaf3spa
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.keywordBcl 2 antagonist killer 1spa
dc.subject.keywordSingle-Stranded Conformationaleng
dc.subject.keywordHLA DQB1 antigenspa
dc.subject.keywordSystemiceng
dc.subject.keywordRheumatoideng
dc.subject.keywordSingle Nucleotideeng
dc.subject.keywordHLA DR antigenspa
dc.subject.keywordProtein bcl 2spa
dc.subject.keywordUnclassified drugspa
dc.subject.keywordAdultspa
dc.subject.keywordArticlespa
dc.subject.keywordAutoimmune diseasespa
dc.subject.keywordBAK1 genespa
dc.subject.keywordColombiaspa
dc.subject.keywordDisease predispositionspa
dc.subject.keywordDNA polymorphismspa
dc.subject.keywordDot hybridizationspa
dc.subject.keywordFemalespa
dc.subject.keywordGenespa
dc.subject.keywordGene linkage disequilibriumspa
dc.subject.keywordHLA typingspa
dc.subject.keywordHumanspa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordPriority journalspa
dc.subject.keywordRheumatic diseasespa
dc.subject.keywordRheumatoid arthritisspa
dc.subject.keywordSingle nucleotide polymorphismspa
dc.subject.keywordSjoegren syndromespa
dc.subject.keywordSystemic lupus erythematosusspa
dc.subject.keywordArthritiseng
dc.subject.keywordAutoimmune Diseasesspa
dc.subject.keywordBcl-2 Homologous Antagonist-Killer Proteinspa
dc.subject.keywordCase-Control Studiesspa
dc.subject.keywordColombiaspa
dc.subject.keywordFemalespa
dc.subject.keywordGenetic Predisposition to Diseasespa
dc.subject.keywordHistocompatibility Testingspa
dc.subject.keywordHLA-DQ Antigensspa
dc.subject.keywordHLA-DR Antigensspa
dc.subject.keywordHumansspa
dc.subject.keywordLinkage Disequilibriumspa
dc.subject.keywordLupus Erythematosuseng
dc.subject.keywordPolymerase Chain Reactionspa
dc.subject.keywordPolymorphismeng
dc.subject.keywordPolymorphismeng
dc.subject.keywordRheumatic Diseasesspa
dc.subject.keywordSjogren's Syndromespa
dc.titleBcl-2 antagonist killer 1 (BAK1) polymorphisms influence the risk of developing autoimmune rheumatic diseases in womenspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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