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PMID: 7837253 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

Absence of linkage between idiopathic dilated cardiomyopathy and candidate genes involved in the immune function in a large Italian pedigree.

Journal of medical genetics ·Vol. 31 ·No. 10 ·1994-10-00 ·Pages 766-71

Krajinovic M, Mestroni L, Severini GM, Pinamonti B, Camerini F, Falaschi A, Giacca M

Abstract

Idiopathic dilated cardiomyopathy (IDC) is a heart disease of unknown aetiology characterised by impaired ventricular function usually associated with dilatation of the cardiac chambers. In order to test the hypothesis of an immunological cause for the disease at the genetic level, we performed linkage analysis between the putative disease locus and some of the potential candidate genes involved in the immune response or coding for the targets for autoantibodies in a large multigeneration family (63 members) from southern Italy with autosomal dominant transmission of the disease. Twenty-nine polymorphic markers on 18 different chromosomal locations were investigated, including markers linked to the genes coding for the HLA antigens, the immunoglobulin heavy and 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 adrenoreceptor, the adenine nucleotide translocator-1, and the cardiac alpha and beta myosin heavy chains. No evidence for genetic linkage to IDC was found at any of these candidate loci. These results indicate that the still unidentified IDC gene maps outside several loci involved in the regulation of immune reactivity.

MeSH Terms
Adult Antigens, CD/genetics Autoantigens/genetics Cardiomyopathy, Dilated/genetics,immunology Chromosome Mapping Complement System Proteins/genetics Female Genes, Dominant Genes, Immunoglobulin Genetic Linkage Genetic Markers Humans Interleukins/genetics Italy Major Histocompatibility Complex Male Pedigree Receptors, Antigen, T-Cell/genetics Receptors, Fc/genetics Receptors, Immunologic/genetics Receptors, Interleukin/genetics
Chemicals
Antigens, CD Autoantigens Genetic Markers Interleukins Receptors, Antigen, T-Cell Receptors, Fc Receptors, Immunologic Receptors, Interleukin Complement System Proteins
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Krajinovic M
International Centre for Genetic Engineering and Biotechnology, AREA Science Park, Trieste, Italy.
Mestroni L
Severini G M
Pinamonti B
Camerini F
Falaschi A
Giacca M
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.31.10.766
Published
1994-10-00
Pages
766-71
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1050123
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.31.10.766 PMC Full Text View journal details
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