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)
Description
Summary: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.