Bcl-2 antagonist killer 1 (BAK1) polymorphisms influence the risk of developing autoimmune rheumatic diseases in women
AuthorDelgado-Vega, A M
Gómez, L M
"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."
Bcl 2 antagonist killer 1 ; Single-Stranded Conformational ; HLA DQB1 antigen ; Systemic ; Rheumatoid ; Single Nucleotide ; 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 ; Arthritis ; 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 ; Lupus Erythematosus ; Polymerase Chain Reaction ; Polymorphism ; Polymorphism ; Rheumatic Diseases ; Sjogren's Syndrome ;
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