All polymorphisms studied in this paper [PMID: 18381799] , total : 2 polymorphisms

Title : BAT1 promoter polymorphism is associated with rheumatoid arthritis susceptibility.

Abstract : 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.

Author : Quinones-Lombrana A,Lopez-Soto A,Ballina-Garcia FJ,Alperi-Lopez M,Queiro-Silva R,Lopez-Vazquez A,Lopez-Larrea C,Gonzalez S,

Source : J Rheumatol. 2008 May;35(5):741-4. Epub 2008 Mar 15.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	NA	DDX39B	7919
2	NA	DDX39B	7919