HBEGF, SRA1, and IK: Three cosegregating genes as determinants of cardiomyopathy

Genome Res. 2009 Mar;19(3):395-403. doi: 10.1101/gr.076653.108. Epub 2008 Dec 8.

Abstract

Human dilated cardiomyopathy (DCM), a disorder of the cardiac muscle, causes considerable morbidity and mortality and is one of the major causes of sudden cardiac death. Genetic factors play a role in the etiology and pathogenesis of DCM. Disease-associated genetic variations identified to date have been identified in single families or single sporadic patients and explain a minority of the etiology of DCM. We show that a 600-kb region of linkage disequilibrium (LD) on 5q31.2-3, harboring multiple genes, is associated with cardiomyopathy in three independent Caucasian populations (combined P-value = 0.00087). Functional assessment in zebrafish demonstrates that at least three genes, orthologous to loci in this LD block, HBEGF, IK, and SRA1, result independently in a phenotype of myocardial contractile dysfunction when their expression is reduced with morpholino antisense reagents. Evolutionary analysis across multiple vertebrate genomes suggests that this heart failure-associated LD block emerged by a series of genomic rearrangements across amphibian, avian, and mammalian genomes and is maintained as a cluster in mammals. Taken together, these observations challenge the simple notion that disease phenotypes can be traced to altered function of a single locus within a haplotype and suggest that a more detailed assessment of causality can be necessary.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Animals, Genetically Modified
  • Cardiomyopathies / genetics*
  • Case-Control Studies
  • Cell Line
  • Chromosome Mapping
  • Chromosome Segregation / physiology*
  • Chromosomes, Human, Pair 5
  • Cluster Analysis
  • Cytokines / genetics*
  • Cytokines / physiology
  • Embryo, Nonmammalian
  • Genetic Markers / physiology
  • Heparin-binding EGF-like Growth Factor
  • Humans
  • Inflammation / genetics
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Intercellular Signaling Peptides and Proteins / physiology
  • Linkage Disequilibrium
  • Polymorphism, Single Nucleotide
  • RNA, Long Noncoding
  • RNA, Untranslated / genetics*
  • RNA, Untranslated / physiology
  • Ventricular Function, Left / genetics
  • Zebrafish / embryology
  • Zebrafish / genetics

Substances

  • Cytokines
  • Genetic Markers
  • HBEGF protein, human
  • Heparin-binding EGF-like Growth Factor
  • IK protein, human
  • Intercellular Signaling Peptides and Proteins
  • RNA, Long Noncoding
  • RNA, Untranslated
  • steroid receptor RNA activator