Aortic & peripheral vascular disease
Thoracic aortic disease: prognostic role of gene variants and polygenic risk scores
Authors' conclusion
P/LP HTAAD gene variants confer a substantial population-level increased risk of TAAD. Polygenic risk represents an additive factor for rare variant TAAD risk
Study context
- Population
- Participants of Penn Medicine Biobank (PMBB) and MyCode Biobanktwo biobank cohorts
- Comparison
- P/LP heritable TAAD (HTAAD) gene variant carriers vs non-carriers; polygenic risk score
- Outcome
- Thoracic aortic aneurysm and dissection (TAAD), identified by algorithmic review of electronic health records
Methodological detailstwo biobank cohorts
- Two biobank cohorts
Main finding
As reported in the abstract
TAAD
Each group vs non-carriersOdds ratio (95% CI)P value
P/LP HTAAD gene variant carriersvariable effects when stratified by gene
13.5(5.3–34.6)
P < 0.001PRS, one standard deviation increase
1.43(1.39–1.47)
P < 0.001Further findings
| Outcome | Relative risk (95% CI) | P value | |
|---|---|---|---|
| TAAD prevalence among carriers, highest vs lowest PRS quintile | 2.32 (1.29–4.17) | P < 0.01 | |
| 0.20.5125Relative risk (log scale) |
Original publication
Thoracic aortic disease: prognostic role of gene variants and polygenic risk scores. Eur Heart J. Published 1 September 2026. doi:10.
Summarised from the published abstract; every number is checked against it