Heart failure & cardiomyopathies
Prevalence, Cardiac Phenotype, and Outcomes of Transthyretin Variants in the UK Biobank Population
Authors' conclusion
This study found that approximately 1 in 1000 UKB participants were LP/P TTR variant carriers, exceeding previously reported prevalence.
Study context
- Population
- UK Biobank participants with whole-exome sequencing, ECG and CMR data, enrolled 2006–2010
- Participants
- 469,789 participants
- Exposure
- TTR variant carriers vs non-carriers
- LP/Pn = 473
- Variant of unknown significancen = 91
- Outcome
- Prevalence of disease-causing TTR variants; associations with imaging/ECG traits, AF, conduction disease, HF and all-cause mortality
- Follow-up
- Median 12 (IQR, 11-13) years
Methodological detailsUK Biobank, whole-exome sequencing
- UK Biobank
- Whole-exome sequencing
Main finding
As reported in the abstract
Prevalence of LP/P TTR variants
| Group | Value | Val142Ile | European ancestry | African ancestry |
|---|---|---|---|---|
| LP/P | 0.1% | 367 [77.6%] | 0.02% (105 of 444 243) | 4.3% (321 of 7533) |
| VUS | 0.02% |
Value
LP/P0.1%
VUS0.02%
Val142Ile
LP/P367 [77.6%]
VUS— not stated in the abstract
European ancestry
LP/P0.02% (105 of 444 243)
VUS— not stated in the abstract
African ancestry
LP/P4.3% (321 of 7533)
VUS— not stated in the abstract
Observational data: associations, not effects.
Further findings
HF, conduction disease and all-cause mortality
| HR (95% CI) | ||
|---|---|---|
| LP/PHF · adjusted Cox models | 2.68 (1.75–4.12) | |
| LP/PConduction disease · adjusted Cox models | 1.88 (1.25–2.83) | |
| non-Val142Ile LP/PAll-cause mortality · adjusted Cox models | 1.98 (1.06–3.67) | |
| 0.20.5125Hazard ratio (log scale) |
| Outcome | LP/P | β (95% CI) |
|---|---|---|
| LV mass indexed to body surface area | 4.66 (1.87–7.44) | |
| PR interval (Val142Ile) | 18.34 (5.41–31.27) | |
| Diagnostic codes compatible with cardiac or neurologic amyloidosis | 2.8% |
HF, conduction disease and all-cause mortality
- VUS not associated with outcomes
Original publication
Prevalence, Cardiac Phenotype, and Outcomes of Transthyretin Variants in the UK Biobank Population. JAMA Cardiol. Published 1 November 2024. doi:10.
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