Arrhythmias & electrophysiology
Population-Level Prevalence of Rare Variants Associated With Atrial Fibrillation and its Impact on Patient Outcomes
Authors' conclusion
Patients with AF had a modestly increased prevalence of LPVs. Among reference arrhythmia and cardiomyopathy genes, the contribution of rare variants to AF risk at a population level is modest and its impact on outcomes appears to be limited, despite an association of LPVs with reduced left ventricular ejection fraction among patients with AF.
Study context
- Population
- UK Biobank participants with whole exome sequencing data
- Participants
- 200,631 participants
- Exposure
- Atrial fibrillation (AF) vs control subjects; AF with vs without LPVs
- AFn = 9,585
- Outcome
- Prevalence of rare pathogenic/likely pathogenic variants (LPVs) in arrhythmia and cardiomyopathy genes
Methodological detailsUK Biobank, whole exome sequencing
- UK Biobank
- Whole exome sequencing
Main finding
As reported in the abstract
LPV prevalence
P = 0.01
Observational data: associations, not effects.
Further findings
AF association by gene (LPVs in TTN and PKP2)
| Adjusted OR (95% CI) | ||
|---|---|---|
| TTN LPVs | 2.69 (1.57–4.61) | |
| PKP2 LPVs | 2.69 (1.54–4.68) | |
| 0.20.5125Adjusted odds ratio (log scale) |
| Outcome | Values | P value |
|---|---|---|
| Combined ischaemic stroke, HF hospitalisation and mortality in patients with AFWith LPVs vs Without LPVs · no significant difference | With LPVs 25.1% · Without LPVs 23.8% | P = 0.49 |
| LVEF on CMR in patients with AFLPV carriers vs Non-LPV carriers | LPV carriers 42% · Non-LPV carriers 52% | P = 0.027 |
LPV carriers among prevalent AF at <45 years
- LPV carriers
- 4.2%
Original publication
Population-Level Prevalence of Rare Variants Associated With Atrial Fibrillation and its Impact on Patient Outcomes. JACC Clin Electrophysiol. Published 18 January 2023. doi:10.
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