Hypertrophic cardiomyopathy and human leukocyte antigen linkage: differentiation of two forms of hypertrophic cardiomyopathy.
To determine whether hypertrophic cardiomyopathy is associated with a human leukocyte antigen (HLA) phenotype, we tissue-typed 70 unrelated afflicted patients and 86 of their asymptomatic family members (from nine separate kindreds). Forty-five per cent of the white patients had B-12 antigen as compared to 23 per cent in matched control subjects; 69 per cent of black patients had a B-5-complex antigen as compared to 33 per cent in matched controls. Patients with a B-12 or B-5-complex antigen were nonhypertensive and had family members with the disease. Patients without these antigens were severely hypertensive and had no affected family members. Linkage analysis of six families revealed a lod score of 7.7 for asymmetric septal hypertrophy and the HLA region of chromosome 6. We conclude that there is a heritable, nonhypertensive form of hypertrophic cardiomyopathy linked to the HLA loci on chromosome 6 and that a sporadic form is associated with severe, systemic hypertension.
D000328:Adult; D000368:Aged; D000483:Alleles; D044383:Black People; D002312:Cardiomyopathy, Hypertrophic / Q000145:classification / Q000150:complications / Q000235:genetics*; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D004452:Echocardiography; D005260:Female; D008040:Genetic Linkage; D006680:HLA Antigens / Q000235:genetics*; D006650:Histocompatibility Testing; D006801:Humans; D006973:Hypertension / Q000150:complications / Q000235:genetics; D007962:Leukocytes / Q000276:immunology*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011995:Recombination, Genetic
D006680:HLA Antigens