Anti-beta-receptor antibodies in familial cardiomyopathy: correlation with HLA-DR and HLA-DQ gene polymorphisms.
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.
Limas
C
C
Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis 55455.
Limas
C J
CJ
Boudoulas
H
H
Bair
R
R
Graber
H
H
Sparks
L
L
Wooley
C F
CF
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*
D001323:Autoantibodies; D015415:Biomarkers; D006683:HLA-DQ Antigens; D006684:HLA-DR Antigens; D015804:HLA-DR4 Antigen; D011943:Receptors, Adrenergic, beta