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dc.creatorDelgado-Vega, A M 
dc.creatorCastiblanco, J 
dc.creatorGómez, L M 
dc.creatorDiaz-Gallo, L-M 
dc.creatorRojas-Villarraga, A 
dc.creatorAnaya, Juan-Manuel 
dc.date.accessioned2020-05-25T23:56:16Z
dc.date.available2020-05-25T23:56:16Z
dc.date.created2010
dc.identifier.issn00034967
dc.identifier.issn14682060
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22378
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.
dc.format.mimetypeapplication/pdf
dc.language.isoeng
dc.relation.ispartofAnnals of the Rheumatic Diseases, ISSN:00034967, 14682060, Vol.69, No.2 (2010); pp. 462-465
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-75749146276&doi=10.1136%2fard.2008.100818&partnerID=40&md5=b0400ad936e08774ab4b68ad0ef7eaf3
dc.titleBcl-2 antagonist killer 1 (BAK1) polymorphisms influence the risk of developing autoimmune rheumatic diseases in women
dc.typearticle
dc.subject.keywordBcl 2 antagonist killer 1
dc.subject.keywordSingle-Stranded Conformational
dc.subject.keywordHLA DQB1 antigen
dc.subject.keywordSystemic
dc.subject.keywordRheumatoid
dc.subject.keywordSingle Nucleotide
dc.subject.keywordHLA DR antigen
dc.subject.keywordProtein bcl 2
dc.subject.keywordUnclassified drug
dc.subject.keywordAdult
dc.subject.keywordArticle
dc.subject.keywordAutoimmune disease
dc.subject.keywordBAK1 gene
dc.subject.keywordColombia
dc.subject.keywordDisease predisposition
dc.subject.keywordDNA polymorphism
dc.subject.keywordDot hybridization
dc.subject.keywordFemale
dc.subject.keywordGene
dc.subject.keywordGene linkage disequilibrium
dc.subject.keywordHLA typing
dc.subject.keywordHuman
dc.subject.keywordMajor clinical study
dc.subject.keywordPriority journal
dc.subject.keywordRheumatic disease
dc.subject.keywordRheumatoid arthritis
dc.subject.keywordSingle nucleotide polymorphism
dc.subject.keywordSjoegren syndrome
dc.subject.keywordSystemic lupus erythematosus
dc.subject.keywordArthritis
dc.subject.keywordAutoimmune Diseases
dc.subject.keywordBcl-2 Homologous Antagonist-Killer Protein
dc.subject.keywordCase-Control Studies
dc.subject.keywordColombia
dc.subject.keywordFemale
dc.subject.keywordGenetic Predisposition to Disease
dc.subject.keywordHistocompatibility Testing
dc.subject.keywordHLA-DQ Antigens
dc.subject.keywordHLA-DR Antigens
dc.subject.keywordHumans
dc.subject.keywordLinkage Disequilibrium
dc.subject.keywordLupus Erythematosus
dc.subject.keywordPolymerase Chain Reaction
dc.subject.keywordPolymorphism
dc.subject.keywordPolymorphism
dc.subject.keywordRheumatic Diseases
dc.subject.keywordSjogren's Syndrome
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.type.spaArtículo
dc.rights.accesoAbierto (Texto Completo)
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.identifier.doihttps://doi.org/10.1136/ard.2008.100818
dc.relation.citationEndPage465
dc.relation.citationIssueNo. 2
dc.relation.citationStartPage462
dc.relation.citationTitleAnnals of the Rheumatic Diseases
dc.relation.citationVolumeVol. 69
dc.source.instnameinstname:Universidad del Rosario
dc.source.reponamereponame:Repositorio Institucional EdocUR


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