HLA Linkage vs Association in Hypertrophic Cardiomyopathy

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HLA Linkage vs Association in Hypertrophic Cardiomyopathy Julius M. Gardin, M.D., F.C.C.P., John S. Gottdiener, M.D., Ruta Radvany, Ph.D., Barry J. Maron, M.D., Michael Lesch, M.D.  CHEST  Volume 81, Issue 4, Pages 466-472 (April 1982) DOI: 10.1378/chest.81.4.466 Copyright © 1982 The American College of Chest Physicians Terms and Conditions

Figure 1 Short arms of a pair of sixth chromosomes, showing loci (A, B, C, D, and DR) and allele variants known to occupy HLA region. CHEST 1982 81, 466-472DOI: (10.1378/chest.81.4.466) Copyright © 1982 The American College of Chest Physicians Terms and Conditions

Figure 2 Percent frequencies of B12 and AW32 antigens in control group of 503 North American Caucasians, in total group of 50 hypertrophic cardiomyopathy patients, and in hemodynamic obstructive, provocable, and nonobstructive subgroups. N = number of patients or subjects in each group; P values are uncorrected and represent comparisons to control group. CHEST 1982 81, 466-472DOI: (10.1378/chest.81.4.466) Copyright © 1982 The American College of Chest Physicians Terms and Conditions

Figure 3 Three hypothetical modes of association between hypertrophic cardiomyopathy and specific HLA antigen(s): J, Hypertrophic cardiomyopathy (HCM) susceptibility gene (°) is linked to a particular HLA allele, Bx. Population studies of the nth generation of all ethnic and racial groups would show an association between hypertrophic cardiomyopathy and antigen Bx (eg, HLA-B12). II, HCM susceptibility gene (*) is linked to different HLA alleles in various ethnic groups. Population studies of the nth generation would show an association with Bx in one ethnic group and Bz in another (eg, affected individuals of two distinct groups might type as HLA-B12 and HLA-B5 complex, respectively). III, HCM susceptibility gene (*) is linked to the HLA region—ie, gene is on sixth chromosome in close proximity to HLA region. As a result, an association with HLA would not be observed in population studies, but affected individuals of a given family would carry a particular HLA haplotype (eg, AvBx in one family and AyBz in another). CHEST 1982 81, 466-472DOI: (10.1378/chest.81.4.466) Copyright © 1982 The American College of Chest Physicians Terms and Conditions