RESEARCH - BAK1 polymorphisms influence the risk of developing autoimmune rheumatic diseases in women

[Guest guest]

Ann Rheum Dis 2010;69:462-465 doi:10.1136/ard.2008.100818

Basic and translational research

Concise report

Bcl-2 antagonist killer 1 (BAK1) polymorphisms influence the risk of

developing autoimmune rheumatic diseases in women

A M Delgado-Vega1,2, J Castiblanco2, L M Gómez2, L-M -Gallo2, A

Rojas-Villarraga1,2, J-M Anaya1,2

+ Author Affiliations

1Center for Autoimmune Diseases Research (CREA), School of Medicine,

rio University, Bogotá, Colombia

2Cellular Biology and Immunogenetics Unit, Corporación para

Investigaciones Biológicas, Medellín, Colombia

Abstract

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 =

<0.001) and rs5745582 (OR 1.61, 95% CI 1.26 to 2.04, p = <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 = <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.

http://ard.bmj.com/content/69/2/462.abstract?etoc

Not an MD