Anti-beta-receptor antibodies in familial cardiomyopathy: correlation with HLA-DR and HLA-DQ gene polymorphisms

Am Heart J. 1994 Feb;127(2):382-6. doi: 10.1016/0002-8703(94)90128-7.

Abstract

The presence of beta-receptor autoantibodies and their relationship to restriction fragment length polymorphisms of the human leukocyte antigen (HLA) class II genes were studied in 42 affected and unaffected members of a family with a heritable disorder of the conduction system and cardiac muscle. Antibodies were detected in 34% of all members (59% of affected and 22% of unaffected; p < 0.01). Significant differences between affected and unaffected individuals and between anti-beta-receptor antibody positive and negative individuals were noted in the prevalence of polymorphisms obtained with Taq I for the HLA-DR beta and HLA-DQ alpha genes. In affected individuals, there was a strong positive correlation between these polymorphisms and the presence of anti-beta-receptor antibodies. These results suggest that autoimmune mechanisms under the control of the class II genes play an important role in the pathogenesis of familial cardiomyopathy.

Publication types

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

MeSH terms

  • Arrhythmias, Cardiac / genetics
  • Arrhythmias, Cardiac / immunology
  • Autoantibodies / genetics*
  • Biomarkers
  • Cardiomegaly / genetics
  • Cardiomegaly / immunology
  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Dilated / immunology*
  • Disease Susceptibility / immunology
  • Female
  • Genes, MHC Class II / genetics*
  • Genetic Predisposition to Disease
  • HLA-DQ Antigens / genetics*
  • HLA-DR Antigens / genetics*
  • HLA-DR4 Antigen / genetics
  • Heart Block / genetics
  • Heart Block / immunology
  • Heart Failure / genetics
  • Heart Failure / immunology
  • Humans
  • Male
  • Phenotype
  • Polymorphism, Genetic / genetics*
  • Polymorphism, Restriction Fragment Length
  • Receptors, Adrenergic, beta / genetics
  • Receptors, Adrenergic, beta / immunology*

Substances

  • Autoantibodies
  • Biomarkers
  • HLA-DQ Antigens
  • HLA-DR Antigens
  • HLA-DR4 Antigen
  • Receptors, Adrenergic, beta