Polymorphisms in the IL-1 receptor antagonist gene VNTR are possible risk factors for juvenile idiopathic inflammatory myopathies

Clin Exp Immunol. 2000 Jul;121(1):47-52. doi: 10.1046/j.1365-2249.2000.01266.x.

Abstract

Although HLA-DRB1 and -DQA1 alleles have been associated with adult and juvenile idiopathic inflammatory myopathies (JIIM), they only partially account for the genetic risk for these autoimmune disorders. Because IL-1alpha and IL-1beta, and the anti-inflammatory competitive inhibitor, IL-1 receptor antagonist (IL-1Ra), have been implicated in the pathogenesis of myositis, we assessed the role of variable number tandem repeat (VNTR) polymorphisms of the IL-1Ra gene (IL-1RN) in the aetiology of JIIM: IL-1RN VNTR polymorphisms were performed on 250 JIIM patients and 471 race-matched controls and were correlated with clinical characteristics. The IL-1RN A1 allele, associated with increased proinflammatory activity, was found to be a risk factor for Caucasians with JIIM (96.0% carriage rate versus 90.2% in race-matched controls, Pcorr = 0.037, odds ratio (OR) = 2.5, confidence interval (CI) = 1.1-5.8), but not for African-Americans, in whom the A3 allele was a possible risk factor (7.0% versus 1.1% in race-matched controls, Pcorr = 0.07, OR = 6.5, CI = 1.1-40.3). IL-1RN genotypes did not correlate with circulating levels of IL-1Ra, which were higher in patients than in controls. The polymorphic IL-1RN locus could be the first non-MHC genetic risk factor identified for JIIM, and different alleles may confer susceptibility for different ethnic groups.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Autoimmune Diseases / blood
  • Autoimmune Diseases / genetics*
  • Female
  • Humans
  • Interleukin 1 Receptor Antagonist Protein
  • Male
  • Minisatellite Repeats*
  • Myositis / blood
  • Myositis / genetics*
  • Polymorphism, Genetic*
  • Prognosis
  • Receptors, Interleukin-1 / antagonists & inhibitors*
  • Risk Factors
  • Sialoglycoproteins / blood
  • Sialoglycoproteins / genetics*

Substances

  • IL1RN protein, human
  • Interleukin 1 Receptor Antagonist Protein
  • Receptors, Interleukin-1
  • Sialoglycoproteins