Impact of synergistic polymorphisms in adrenergic receptor-related genes and cardiovascular events in patients with dilated cardiomyopathy

Circ J. 2012;76(8):2003-8. doi: 10.1253/circj.cj-11-1014. Epub 2012 May 12.

Abstract

Background: Sustained cardiac adrenergic stimulation has been implicated in the progression of cardiovascular events in patients with dilated cardiomyopathy (DCM). Our group hypothesized that a combination of polymorphisms that result in increased synaptic norepinephrine release and enhanced receptor function would predispose patients with DCM to cardiovascular events. The effect of polymorphisms in adrenergic receptor-related genes on cardiovascular event-free survival in patients with idiopathic DCM was evaluated.

Methods and results: Genotyping at 3 loci (ADRB1 Ser49Gly and Arg389Gly, and NET T-182C) was performed in 83 patients with DCM. Patients were followed prospectively to the endpoint of cardiovascular events (mean follow-up, 45 months). Cardiovascular events were defined as cardiac death and emergent hospitalization as a result of congestive heart failure, arrhythmia, and cerebrovascular events. Analyses were conducted based on the number of predicted risk genotypes a patient carried. The ADRB1 Ser49 allele carrier, ADRB1 Arg389 allele carrier, and NET-182CC genotype were defined as the predicted risk genotypes. Cardiovascular event-free survival was compared based on the number of predicted risk genotypes. Cardiovascular event-free survival was significantly better in patients with fewer than 3 predicted risk genotypes than in those with 3 predicted risk genotypes.

Conclusions: Genotyping at these 3 loci might be a useful approach for identification of patients with DCM at risk for cardiovascular events.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Dilated / mortality*
  • Disease-Free Survival
  • Female
  • Genetic Loci*
  • Humans
  • Male
  • Middle Aged
  • Muscle Proteins / genetics
  • Norepinephrine Plasma Membrane Transport Proteins / genetics*
  • Polymorphism, Genetic*
  • Receptors, Adrenergic, beta-1 / genetics*
  • Survival Rate

Substances

  • ADRB1 protein, human
  • Muscle Proteins
  • Norepinephrine Plasma Membrane Transport Proteins
  • Receptors, Adrenergic, beta-1
  • SLC6A2 protein, human