Arrhythmias & electrophysiologyResearch article

Genome-Wide Association Study of Accessory Atrioventricular Pathways

JAMA CardiolPublished

  • Genome-wide association study
  • multinational (Iceland, Denmark, US, UK)
  • Data analyzed August 2022 to January 2024

Authors' conclusion

Associations were found between sequence variants and APs that were also associated with risk of PSVT, and thus likely atrioventricular reentrant tachycardia, but had allele-specific associations with AF and conduction disorders.

Study context

Population
Individuals with atrioventricular pathways (APs) and controls from Iceland, Denmark, the US and the UK; phenotype data 1983–2022909 APs confirmed in electrophysiology (EP) study
Participants
2,310 vs 1,206,977
Comparison
Individuals with accessory atrioventricular pathways vs controls
  • APsn = 2,310
  • Controlsn = 1,206,977reference
Outcome
Genome-wide significant association of sequence variants with APs

Main finding

As reported in the abstract

Association of missense variants with APs
Each group vs controlsEstimate (95% CI)
CCDC141 p.Arg935Trp
aOR 1.37(1.24–1.52)
CCDC141 p.Ala141Val
aOR 1.55(1.34–1.80)
SCN10A p.Ala1073Val
OR 1.22(1.15–1.30)

Further findings

AP-affiliated arrhythmias (paroxysmal supraventricular tachycardia (PSVT), atrial fibrillation (AF))

All 3 variants associated with PSVT
SCN10A variant associated with AF

Heart rate and PR interval

All 3 AP risk alleles associated with higher heart rate and shorter PR interval

Original publication

Genome-Wide Association Study of Accessory Atrioventricular Pathways. JAMA Cardiol. Published 1 November 2024. doi:10.1001/jamacardio.2024.2684

Summarised from the published abstract; every number is checked against it