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


  • Annals of the Rheumatic Diseases


  • 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=

publication date

  • 2010-2-1


  • Alleles
  • Assays
  • Autoimmune Diseases
  • Genes
  • HLA-DQB1 antigen
  • HLA-DRB1 Chains
  • Histocompatibility Testing
  • Linkage Disequilibrium
  • Nucleotides
  • Odds Ratio
  • Polymorphism
  • Rheumatic Diseases
  • Rheumatoid Arthritis
  • Single Nucleotide Polymorphism
  • Systemic Lupus Erythematosus

International Standard Serial Number (ISSN)

  • 0003-4967

number of pages

  • 4

start page

  • 462

end page

  • 465