Strong association of MuSK antibody-positive myasthenia gravis and HLA-DR14-DQ5

Neurology. 2006 Jun 13;66(11):1772-4. doi: 10.1212/01.wnl.0000218159.79769.5c.

Abstract

The authors studied the HLA profile of 23 white Dutch patients with muscle-specific kinase antibody-positive myasthenia gravis (MuSK Ab+ MG) and found an association with HLA-DR14-DQ5 (odds ratio 8.5; 95% CI 3.9 to 18.7; p = 4.9 x 10(-5)). Fifty-two percent of the patients carried the DR14 allele compared with 5% of the controls (p = 1.0 x 10(-8)). This association between MuSK Ab+ MG and a relatively rare HLA haplotype differs from the previously described association of early-onset acetylcholine receptor Ab+ MG with HLA-B8-DR3.

Publication types

  • Clinical Trial
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Cohort Studies
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease / genetics
  • HLA-DR Antigens / genetics*
  • HLA-DR Antigens / immunology*
  • HLA-DR Serological Subtypes
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Myasthenia Gravis / genetics*
  • Myasthenia Gravis / immunology*
  • Netherlands / epidemiology
  • Prevalence
  • Receptor Protein-Tyrosine Kinases / immunology*
  • Receptors, Cholinergic / immunology*
  • Risk Assessment / methods*
  • Risk Factors
  • Statistics as Topic

Substances

  • HLA-DR Antigens
  • HLA-DR Serological Subtypes
  • HLA-DR14
  • Receptors, Cholinergic
  • MUSK protein, human
  • Receptor Protein-Tyrosine Kinases