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...
- 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)
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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 |
_version_ |
1814167549167796224 |