RT Journal Article
SR Electronic
T1 BAT1 promoter polymorphism is associated with rheumatoid arthritis susceptibility.
JF The Journal of Rheumatology
JO J Rheumatol
FD The Journal of Rheumatology
SP 741
OP 744
VO 35
IS 5
A1 Adolfo Quiñones-Lombraña
A1 Alejandro Lopez-Soto
A1 Francisco Javier Ballina-Garcia
A1 Mercedes Alperi-López
A1 Ruben Queiro-Silva
A1 Antonio Lopez-Vazquez
A1 Carlos Lopez-Larrea
A1 Segundo Gonzalez
YR 2008
UL http://www.jrheum.org/content/35/5/741.abstract
AB OBJECTIVE: To analyze whether the polymorphisms -22 (G/C) and -348 (C/T) of the BAT1 gene are associated with susceptibility to rheumatoid arthritis (RA). METHODS: One hundred fifty-six patients with RA and 154 controls were genotyped for HLA-DRB1 and the polymorphisms -22 and -348 of the BAT1 gene. RESULTS: HLA-DRB1*04 alleles were associated with RA susceptibility (33.9% vs 20.1%; pc = 0.04). Among these, HLA-DRB1*0401 (13.4% vs 5.1%; pc = 0.04) and HLA-DRB1*0404 (5.7% vs 1.2%; pc = 0.2) were increased in patients with RA. Additionally, carriage of BAT1 -348T polymorphism was strongly associated with RA (23.7% vs 12.1%; pc = 0.0002). Significantly, BAT1 -348T was in linkage disequilibrium with HLA-DRB1*0404 and HLA-DRB1*0405. However, BAT1 -348 T was associated independently with HLA-DRB1 shared-epitope alleles (42.6% vs 18.9%; p = 0.001). CONCLUSION: The BAT1 -348T polymorphism is associated with RA susceptibility independently of HLA-DRB1. The role of BAT1 in the regulation of tumor necrosis factor-a suggests that BAT1 may regulate the inflammatory response observed in patients with RA.