title: Anti-beta-receptor antibodies in familial cardiomyopathy: correlation with HLA-DR and HLA-DQ gene polymorphisms.
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.
authors.affiliation: Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis 55455.
authors.forename: C
authors.initials: C
authors.lastname: Limas
authors.forename: C J
authors.initials: CJ
authors.lastname: Limas
authors.forename: H
authors.initials: H
authors.lastname: Boudoulas
authors.forename: R
authors.initials: R
authors.lastname: Bair
authors.forename: H
authors.initials: H
authors.lastname: Graber
authors.forename: L
authors.initials: L
authors.lastname: Sparks
authors.forename: C F
authors.initials: CF
authors.lastname: Wooley
mesh_terms: D001145:Arrhythmias, Cardiac / Q000235:genetics / Q000276:immunology; D001323:Autoantibodies / Q000235:genetics*; D015415:Biomarkers; D006332:Cardiomegaly / Q000235:genetics / Q000276:immunology; D002311:Cardiomyopathy, Dilated / Q000235:genetics* / Q000276:immunology*; D004198:Disease Susceptibility / Q000276:immunology; D005260:Female; D005802:Genes, MHC Class II / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006683:HLA-DQ Antigens / Q000235:genetics*; D006684:HLA-DR Antigens / Q000235:genetics*; D015804:HLA-DR4 Antigen / Q000235:genetics; D006327:Heart Block / Q000235:genetics / Q000276:immunology; D006333:Heart Failure / Q000235:genetics / Q000276:immunology; D006801:Humans; D008297:Male; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011943:Receptors, Adrenergic, beta / Q000235:genetics / Q000276:immunology*
chemical_list: D001323:Autoantibodies; D015415:Biomarkers; D006683:HLA-DQ Antigens; D006684:HLA-DR Antigens; D015804:HLA-DR4 Antigen; D011943:Receptors, Adrenergic, beta