Arrhythmias & electrophysiologyCase-control study
Rare and Common Genetic Variation Underlying Atrial Fibrillation Risk
- Genetic association and nested case-control study
Authors' conclusion
Rare and common genetic variation were associated with an increased risk of AF.
Study context
- Population
- UK Biobank participants of European ancestry aged 40 to 69 years at inclusion, enrolled 2006–2010; prior atrial fibrillation (AF) excluded from incident AF analyses24,447 incident AF
- Participants
- 403,990 participants
- Comparison
- Rare predicted loss-of-function (pLOF) variants and AF polygenic risk score
- Outcome
- Risk of AF and incident heart failure (HF) or cardiomyopathy prior to and subsequent to AF diagnosis
- Follow-up
- Median 13.3 years
Main finding
As reported in the abstract
AF
Rare pLOF variants combined with high polygenic risk score (PRS), OR for AF
7.08 (6.03-8.28) (95% CI)
10-year AF risk, carriers with high PRS, female individuals older than 60 years
16%
10-year AF risk, carriers with high PRS, male individuals older than 60 years
24%
Observational data: associations, not effects.
Further findings
Cardiomyopathy in rare pLOF variant carriers
- Cardiomyopathy (CM) prior to AF, HR
- 3.13 (2.24-4.36) (95% CI)
- CM subsequent to AF, HR
- 2.98 (1.89-4.69) (95% CI)
- cause-specific Cox regressions
Original publication
Rare and Common Genetic Variation Underlying Atrial Fibrillation Risk. JAMA Cardiol. Published 1 August 2024. doi:10.1001/jamacardio.2024.1528
Summarised from the published abstract; every number is checked against it