title: HLA linkage vs association in hypertrophic cardiomyopathy. Evidence for the absence of an association in a heterogeneous Caucasian population.
abstract: Human leukocyte antigen (HLA) tissue-typing studies on patients with genetically transmitted hypertrophic cardiomyopathy have demonstrated an HLA linkage in a Caucasian and black patient group and an HLA-DR locus association in a Japanese population sample. To confirm whether a specific HLA antigen(s) might serve as a marker for hypertrophic cardiomyopathy, we performed tissue-typing studies on 50 unrelated, normotensive North American Caucasians with the disorder. Patients were subdivided into three hemodynamic subgroups: obstructive (35), provocable (ten), and nonobstructive (five). Although there was an increased frequency of the B12 and AW32 HLA antigens in the total group, after correction of P values for the number of antigens studied, the associations were not statistically significant. Analysis of the HLA antigen frequencies in the three hemodynamic subgroups yielded no statistically significant HLA-A, B, or C locus associations, and no unusual deviation in linkage disequilibrium between A and B locus antigens was observed. We conclude that although on the sixth chromosome there may be a susceptibility gene for hypertrophic cardiomyopathy, which segregates with a specific haplotype in a given family, no specific HLA-A, B, or C locus antigen was found useful as a marker. HLA-DR locus antigen typing might prove useful in this population.
mesh_terms: D000328:Adult; D000368:Aged; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D005260:Female; D005796:Genes; D008040:Genetic Linkage; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008957:Models, Genetic; D009656:North America; D010375:Pedigree; D012306:Risk; D044465:White People
chemical_list: D006680:HLA Antigens