title: Immunogenetic features in 120 Japanese patients with idiopathic inflammatory myopathy.
abstract: OBJECTIVE
  To examine the role of HLA-DRB1 and tumor necrosis factor (TNF) promoter genotypes in the development and the autoantibody profiles of idiopathic inflammatory myopathy (IIM) in Japanese patients.
  
  
  METHODS
  HLA-DRB1 and TNF promoter genotypes were determined, and serum antinuclear autoantibodies were identified in 120 adult Japanese patients with IIM [72 with dermatomyositis (DM), 30 with polymyositis (PM), 18 with myositis overlapping with other collagen vascular diseases], as well as in 265 controls.
  
  
  RESULTS
  Forty-two patients (35%) were positive for myositis-specific autoantibodies (MSA), including 37 (31%) for anti-aminoacyl-tRNA synthetase (ARS) autoantibodies. Allele carrier frequency of HLA-DRB1*0803 was increased in the patients with IIM [p = 0.02, corrected p (pc) NS, 23% vs 14%, odds ratio (OR) = 1.9 (95% confidence interval, CI = 1.1-3.2)], with PM [p = 0.006, pc NS, 33%, OR 3.1 (95% CI 1.3-7.1)], and with anti-ARS autoantibodies [27%, p = 0.04, OR 2.3 (95% CI 1.0-5.1)] compared with controls. DRB1*0405 was increased in patients with anti-ARS autoantibodies compared with controls [41% vs 25%, p = 0.04, pc NS, OR 2.1 (95% CI 1.0-4.3)]. TNF promoter genotype was associated with the presence of interstitial lung disease (ILD). The carriage of a TNF-a haplotype formed by -1031C, -863A, and -857C was increased in the patients with ILD versus those without ILD [33% vs 18%, p = 0.05, pc NS, OR 2.3 (95% CI 0.94-5.5)].
  
  
  CONCLUSIONS
  HLA-DRB1 alleles were associated with development of IIM and MSA in a Japanese population.
authors.affiliation: Institute of Rheumatology and Department of Neurology, Tokyo Women's Medical University, Tokyo, Japan. furuyat@ior.twmu.ac.jp
authors.forename: Takefumi
authors.initials: T
authors.lastname: Furuya
authors.forename: Masayuki
authors.initials: M
authors.lastname: Hakoda
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Tsuchiya
authors.forename: Shigeru
authors.initials: S
authors.lastname: Kotake
authors.forename: Naomi
authors.initials: N
authors.lastname: Ichikawa
authors.forename: Yuki
authors.initials: Y
authors.lastname: Nanke
authors.forename: Ayako
authors.initials: A
authors.lastname: Nakajima
authors.forename: Megumi
authors.initials: M
authors.lastname: Takeuchi
authors.forename: Makoto
authors.initials: M
authors.lastname: Nishinarita
authors.forename: Hirobumi
authors.initials: H
authors.lastname: Kondo
authors.forename: Aya
authors.initials: A
authors.lastname: Kawasaki
authors.forename: Shio
authors.initials: S
authors.lastname: Kobayashi
authors.forename: Tsuneyo
authors.initials: T
authors.lastname: Mimori
authors.forename: Katsushi
authors.initials: K
authors.lastname: Tokunaga
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Kamatani
mesh_terms: D000328:Adult; D001323:Autoantibodies / Q000097:blood; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009220:Myositis / Q000235:genetics* / Q000276:immunology*; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D017678:Sex Distribution; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics
chemical_list: D001323:Autoantibodies; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; D014409:Tumor Necrosis Factor-alpha