An investigation of the association of the H558R polymorphism of the SCN5A gene with idiopathic cardiac conduction disorders

Genet Test Mol Biomarkers. 2015 Jun;19(6):288-94. doi: 10.1089/gtmb.2015.0012. Epub 2015 Apr 14.

Abstract

Aim: The aim of this study was to investigate the predictive value of the rs1805124 polymorphism of the SCN5A gene with regard to idiopathic cardiac conduction disorders.

Results: The AG genotype frequency was significantly higher in patients with an atrioventricular block (61,2%±6,0%) compared with healthy control subjects (34,8%±2,3%), p<0.0001. The AG genotype frequencies among patients with only idiopathic complete right bundle-branch block (CRBBB) (54,2%±5,5%) and those with both CLBBB and LAH (50%±5,1) were significantly higher than in the control group (34,8%±2,3%), p<0.005.

Conclusions: The AG genotype of the H558R (rs1805124) polymorphism of the SCN5A gene is a genetic predictor of idiopathic disorders of atrioventricular and intraventricular conduction.

MeSH terms

  • Adult
  • Arrhythmias, Cardiac / genetics*
  • Brugada Syndrome
  • Bundle-Branch Block / genetics
  • Cardiac Conduction System Disease
  • Case-Control Studies
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Heart Conduction System / abnormalities*
  • Humans
  • Male
  • Middle Aged
  • Models, Genetic
  • NAV1.5 Voltage-Gated Sodium Channel / genetics*
  • Polymorphism, Single Nucleotide
  • Predictive Value of Tests
  • Young Adult

Substances

  • NAV1.5 Voltage-Gated Sodium Channel
  • SCN5A protein, human