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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Functional Biology, University of Oviedo, IUOPA, Oviedo, Spain.
authors.forename: Adolfo
authors.initials: A
authors.lastname: Quiñones-Lombraña
authors.forename: Alejandro
authors.initials: A
authors.lastname: Lopez-Soto
authors.forename: Francisco Javier
authors.initials: FJ
authors.lastname: Ballina-Garcia
authors.forename: Mercedes
authors.initials: M
authors.lastname: Alperi-López
authors.forename: Ruben
authors.initials: R
authors.lastname: Queiro-Silva
authors.forename: Antonio
authors.initials: A
authors.lastname: Lopez-Vazquez
authors.forename: Carlos
authors.initials: C
authors.lastname: Lopez-Larrea
authors.forename: Segundo
authors.initials: S
authors.lastname: Gonzalez
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001172:Arthritis, Rheumatoid / Q000235:genetics* / Q000378:metabolism; D016022:Case-Control Studies; D053487:DEAD-box RNA Helicases / Q000235:genetics* / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D014409:Tumor Necrosis Factor-alpha / Q000378:metabolism*
chemical_list: D014409:Tumor Necrosis Factor-alpha; C487886:DDX39B protein, human; D053487:DEAD-box RNA Helicases