Exclusion of a primary gene defect at the HLA locus in familial idiopathic dilated cardiomyopathy

T. M. Olson, S. N. Thibodeau, P. A. Lundquist, D. J. Schaid, V. V. Michels

Research output: Contribution to journalReview articlepeer-review

8 Scopus citations


Case control studies have reported associations between specific HLA class II antigens and idiopathic dilated cardiomyopathy (DCM), suggesting that genetically regulated immune response factors may be involved in the pathogenesis of this disease. In this study, families with DCM were used to test the hypothesis that a heritable gene defect in the HLA region is the primary genetic determinant for a subset of cases. Twelve families with DCM were identified. By formal segregation analysis, the inheritance of the disease was most consistent with an autosomal dominant gene defect with incomplete penetrance. Genotyping was performed with five highly polymorphic linked dinucleotide repeat markers that span the HLA locus. Linkage analysis was used to determine whether or not these genetic markers cosegregated with the disease phenotype. Genetic linkage between the disease phenotype and a 21 cM region spanning the HLA was excluded (lod score ≤2) in at least 60% of our families. These results indicate that a gene defect in the HLA locus region is not the primary genetic determinant of DCM in a series of familial cases. However, our data do not exclude the possibility that HLA regulated immune response factors may have a modifying effect on disease penetrance and expression.

Original languageEnglish (US)
Pages (from-to)876-880
Number of pages5
JournalJournal of medical genetics
Issue number11
StatePublished - 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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