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

Objective: 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 wo...

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Autores:
Tipo de recurso:
Fecha de publicación:
2010
Institución:
Universidad del Rosario
Repositorio:
Repositorio EdocUR - U. Rosario
Idioma:
eng
OAI Identifier:
oai:repository.urosario.edu.co:10336/22378
Acceso en línea:
https://doi.org/10.1136/ard.2008.100818
https://repository.urosario.edu.co/handle/10336/22378
Palabra clave:
Bcl 2 antagonist killer 1
HLA DQB1 antigen
HLA DR antigen
Protein bcl 2
Unclassified drug
Adult
Article
Autoimmune disease
BAK1 gene
Colombia
Disease predisposition
DNA polymorphism
Dot hybridization
Female
Gene
Gene linkage disequilibrium
HLA typing
Human
Major clinical study
Priority journal
Rheumatic disease
Rheumatoid arthritis
Single nucleotide polymorphism
Sjoegren syndrome
Systemic lupus erythematosus
Autoimmune Diseases
Bcl-2 Homologous Antagonist-Killer Protein
Case-Control Studies
Colombia
Female
Genetic Predisposition to Disease
Histocompatibility Testing
HLA-DQ Antigens
HLA-DR Antigens
Humans
Linkage Disequilibrium
Polymerase Chain Reaction
Rheumatic Diseases
Sjogren's Syndrome
Single-Stranded Conformational
Systemic
Rheumatoid
Single Nucleotide
Arthritis
Lupus Erythematosus
Polymorphism
Polymorphism
Rights
License
Abierto (Texto Completo)
id EDOCUR2_4f8add8d9e8027ac96972d074786859b
oai_identifier_str oai:repository.urosario.edu.co:10336/22378
network_acronym_str EDOCUR2
network_name_str Repositorio EdocUR - U. Rosario
repository_id_str
spelling eee17618-e37b-40da-9ed1-a5128a797bea2aa1f736-e919-4a89-bd9d-f56f9a9d1f1f04725674-fe3b-46b2-871e-7ef22b03c2164f304c78-f3e9-46d7-9368-7a20ce38a5008aa08ddc-3b0d-4a49-a320-6a8b48a80d50194747786002020-05-25T23:56:16Z2020-05-25T23:56:16Z2010Objective: 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.application/pdfhttps://doi.org/10.1136/ard.2008.1008180003496714682060https://repository.urosario.edu.co/handle/10336/22378eng465No. 2462Annals of the Rheumatic DiseasesVol. 69Annals of the Rheumatic Diseases, ISSN:00034967, 14682060, Vol.69, No.2 (2010); pp. 462-465https://www.scopus.com/inward/record.uri?eid=2-s2.0-75749146276&doi=10.1136%2fard.2008.100818&partnerID=40&md5=b0400ad936e08774ab4b68ad0ef7eaf3Abierto (Texto Completo)http://purl.org/coar/access_right/c_abf2instname:Universidad del Rosarioreponame:Repositorio Institucional EdocURBcl 2 antagonist killer 1HLA DQB1 antigenHLA DR antigenProtein bcl 2Unclassified drugAdultArticleAutoimmune diseaseBAK1 geneColombiaDisease predispositionDNA polymorphismDot hybridizationFemaleGeneGene linkage disequilibriumHLA typingHumanMajor clinical studyPriority journalRheumatic diseaseRheumatoid arthritisSingle nucleotide polymorphismSjoegren syndromeSystemic lupus erythematosusAutoimmune DiseasesBcl-2 Homologous Antagonist-Killer ProteinCase-Control StudiesColombiaFemaleGenetic Predisposition to DiseaseHistocompatibility TestingHLA-DQ AntigensHLA-DR AntigensHumansLinkage DisequilibriumPolymerase Chain ReactionRheumatic DiseasesSjogren's SyndromeSingle-Stranded ConformationalSystemicRheumatoidSingle NucleotideArthritisLupus ErythematosusPolymorphismPolymorphismBcl-2 antagonist killer 1 (BAK1) polymorphisms influence the risk of developing autoimmune rheumatic diseases in womenarticleArtículohttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501Delgado-Vega, A MCastiblanco, JGómez, L MDiaz-Gallo, L-MRojas-Villarraga, AAnaya, Juan-Manuel10336/22378oai:repository.urosario.edu.co:10336/223782022-05-02 07:37:13.479543https://repository.urosario.edu.coRepositorio institucional EdocURedocur@urosario.edu.co
dc.title.spa.fl_str_mv Bcl-2 antagonist killer 1 (BAK1) polymorphisms influence the risk of developing autoimmune rheumatic diseases in women
title Bcl-2 antagonist killer 1 (BAK1) polymorphisms influence the risk of developing autoimmune rheumatic diseases in women
spellingShingle Bcl-2 antagonist killer 1 (BAK1) polymorphisms influence the risk of developing autoimmune rheumatic diseases in women
Bcl 2 antagonist killer 1
HLA DQB1 antigen
HLA DR antigen
Protein bcl 2
Unclassified drug
Adult
Article
Autoimmune disease
BAK1 gene
Colombia
Disease predisposition
DNA polymorphism
Dot hybridization
Female
Gene
Gene linkage disequilibrium
HLA typing
Human
Major clinical study
Priority journal
Rheumatic disease
Rheumatoid arthritis
Single nucleotide polymorphism
Sjoegren syndrome
Systemic lupus erythematosus
Autoimmune Diseases
Bcl-2 Homologous Antagonist-Killer Protein
Case-Control Studies
Colombia
Female
Genetic Predisposition to Disease
Histocompatibility Testing
HLA-DQ Antigens
HLA-DR Antigens
Humans
Linkage Disequilibrium
Polymerase Chain Reaction
Rheumatic Diseases
Sjogren's Syndrome
Single-Stranded Conformational
Systemic
Rheumatoid
Single Nucleotide
Arthritis
Lupus Erythematosus
Polymorphism
Polymorphism
title_short Bcl-2 antagonist killer 1 (BAK1) polymorphisms influence the risk of developing autoimmune rheumatic diseases in women
title_full Bcl-2 antagonist killer 1 (BAK1) polymorphisms influence the risk of developing autoimmune rheumatic diseases in women
title_fullStr Bcl-2 antagonist killer 1 (BAK1) polymorphisms influence the risk of developing autoimmune rheumatic diseases in women
title_full_unstemmed Bcl-2 antagonist killer 1 (BAK1) polymorphisms influence the risk of developing autoimmune rheumatic diseases in women
title_sort Bcl-2 antagonist killer 1 (BAK1) polymorphisms influence the risk of developing autoimmune rheumatic diseases in women
dc.subject.keyword.spa.fl_str_mv Bcl 2 antagonist killer 1
HLA DQB1 antigen
HLA DR antigen
Protein bcl 2
Unclassified drug
Adult
Article
Autoimmune disease
BAK1 gene
Colombia
Disease predisposition
DNA polymorphism
Dot hybridization
Female
Gene
Gene linkage disequilibrium
HLA typing
Human
Major clinical study
Priority journal
Rheumatic disease
Rheumatoid arthritis
Single nucleotide polymorphism
Sjoegren syndrome
Systemic lupus erythematosus
Autoimmune Diseases
Bcl-2 Homologous Antagonist-Killer Protein
Case-Control Studies
Colombia
Female
Genetic Predisposition to Disease
Histocompatibility Testing
HLA-DQ Antigens
HLA-DR Antigens
Humans
Linkage Disequilibrium
Polymerase Chain Reaction
Rheumatic Diseases
Sjogren's Syndrome
topic Bcl 2 antagonist killer 1
HLA DQB1 antigen
HLA DR antigen
Protein bcl 2
Unclassified drug
Adult
Article
Autoimmune disease
BAK1 gene
Colombia
Disease predisposition
DNA polymorphism
Dot hybridization
Female
Gene
Gene linkage disequilibrium
HLA typing
Human
Major clinical study
Priority journal
Rheumatic disease
Rheumatoid arthritis
Single nucleotide polymorphism
Sjoegren syndrome
Systemic lupus erythematosus
Autoimmune Diseases
Bcl-2 Homologous Antagonist-Killer Protein
Case-Control Studies
Colombia
Female
Genetic Predisposition to Disease
Histocompatibility Testing
HLA-DQ Antigens
HLA-DR Antigens
Humans
Linkage Disequilibrium
Polymerase Chain Reaction
Rheumatic Diseases
Sjogren's Syndrome
Single-Stranded Conformational
Systemic
Rheumatoid
Single Nucleotide
Arthritis
Lupus Erythematosus
Polymorphism
Polymorphism
dc.subject.keyword.eng.fl_str_mv Single-Stranded Conformational
Systemic
Rheumatoid
Single Nucleotide
Arthritis
Lupus Erythematosus
Polymorphism
Polymorphism
description Objective: 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.
publishDate 2010
dc.date.created.spa.fl_str_mv 2010
dc.date.accessioned.none.fl_str_mv 2020-05-25T23:56:16Z
dc.date.available.none.fl_str_mv 2020-05-25T23:56:16Z
dc.type.eng.fl_str_mv article
dc.type.coarversion.fl_str_mv http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.coar.fl_str_mv http://purl.org/coar/resource_type/c_6501
dc.type.spa.spa.fl_str_mv Artículo
dc.identifier.doi.none.fl_str_mv https://doi.org/10.1136/ard.2008.100818
dc.identifier.issn.none.fl_str_mv 00034967
14682060
dc.identifier.uri.none.fl_str_mv https://repository.urosario.edu.co/handle/10336/22378
url https://doi.org/10.1136/ard.2008.100818
https://repository.urosario.edu.co/handle/10336/22378
identifier_str_mv 00034967
14682060
dc.language.iso.spa.fl_str_mv eng
language eng
dc.relation.citationEndPage.none.fl_str_mv 465
dc.relation.citationIssue.none.fl_str_mv No. 2
dc.relation.citationStartPage.none.fl_str_mv 462
dc.relation.citationTitle.none.fl_str_mv Annals of the Rheumatic Diseases
dc.relation.citationVolume.none.fl_str_mv Vol. 69
dc.relation.ispartof.spa.fl_str_mv Annals of the Rheumatic Diseases, ISSN:00034967, 14682060, Vol.69, No.2 (2010); pp. 462-465
dc.relation.uri.spa.fl_str_mv https://www.scopus.com/inward/record.uri?eid=2-s2.0-75749146276&doi=10.1136%2fard.2008.100818&partnerID=40&md5=b0400ad936e08774ab4b68ad0ef7eaf3
dc.rights.coar.fl_str_mv http://purl.org/coar/access_right/c_abf2
dc.rights.acceso.spa.fl_str_mv Abierto (Texto Completo)
rights_invalid_str_mv Abierto (Texto Completo)
http://purl.org/coar/access_right/c_abf2
dc.format.mimetype.none.fl_str_mv application/pdf
institution Universidad del Rosario
dc.source.instname.spa.fl_str_mv instname:Universidad del Rosario
dc.source.reponame.spa.fl_str_mv reponame:Repositorio Institucional EdocUR
repository.name.fl_str_mv Repositorio institucional EdocUR
repository.mail.fl_str_mv edocur@urosario.edu.co
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