M. Krajinovic et al., ABSENCE OF LINKAGE BETWEEN IDIOPATHIC DILATED CARDIOMYOPATHY AND CANDIDATE GENES INVOLVED IN THE IMMUNE FUNCTION IN A LARGE ITALIAN PEDIGREE, Journal of Medical Genetics, 31(10), 1994, pp. 766-771
Idiopathic dilated cardiomyopathy (IDC) is a heart disease of unknown
aetiology characterised by impaired ventricular function usually assoc
iated with dilatation of the cardiac chambers. In order to test the hy
pothesis of an immunological cause for the disease at the genetic leve
l, we performed linkage analysis between the putative disease locus an
d some of the potential candidate genes involved in the immune respons
e or coding for the targets for autoantibodies in a large multigenerat
ion family (63 members) from southern Italy with autosomal dominant tr
ansmission of the disease. Twenty-nine polymorphic markers on 18 diffe
rent chromosomal locations were investigated, including markers linked
to the genes coding for the HLA antigens, the immunoglobulin heavy an
d light chains, the receptors for the immunoglobulin Fc fragments, the
subunits of the T cell receptor and the associated CD3, CD4, CD8, and
CD45 antigens, interleukins 1, 3, 4, 5, 6, 9, and 11, the interleukin
1 and 2 receptors, and the genes coding for the beta(1) adrenorecepto
r, the adenine nucleotide translocator-1, and the cardiac alpha and be
ta myosin heavy chains. No evidence for genetic linkage to IDC was fou
nd at any of these candidate loci. These results indicate that the sti
ll unidentified IDC gene maps outside several loci involved in the reg
ulation of immune reactivity.