Aortic & peripheral vascular disease
The AORTA Gene score for detection and risk stratification of ascending aortic dilation
Authors' conclusion
A comprehensive model incorporating polygenic information and clinical risk factors explained 34.9%-41.8% of the variation in ascending aortic diameter, improving the identification of ascending aortic dilation and adverse thoracic aortic events compared to clinical risk factors.
Study context
- Population
- UK Biobank, Mass General Brigham (MGB) Biobank, Framingham Heart Study and All of Us participants4 cohorts
- Comparison
- AORTA Gene vs clinical factors alone
- Outcome
- Variance explained in ascending aortic diameter; identification of diameter ≥ 4 cm; adverse thoracic aortic events
Methodological detailsinternal and external validation, multicohort, Validated internally in 4394 UK Biobank participants; externally in 5469 MGB, 1298 Framingham Heart Study (FHS) and 610 All of Us individuals
- Internal and external validation
- Multicohort
- Validated internally in 4394 UK Biobank participants; externally in 5469 MGB, 1298 FHS and 610 All of Us individuals
Performance
As reported in the abstract
Variance in thoracic aortic diameter explained
- UK Biobank
- variance explained 39.5% vs. 29.3% (95% CI 37.3%-41.8% vs 27.0%-31.5%)
- MGB
- variance explained 36.5% vs. 32.5% (95% CI 34.4%-38.5% vs 30.4%-34.5%)
- FHS
- variance explained 41.8% vs. 33.0% (95% CI 37.7%-45.9% vs 28.9%-37.2%)
- All of Us
- variance explained 34.9% vs. 28.9% (95% CI 28.8%-41.0% vs 22.9%-35.0%)
Further findings
AUC for diameter ≥ 4 cm
| Group | AORTA Gene | Clinical factors alone | P value |
|---|---|---|---|
| UK Biobank | 0.836 | 0.776 | P < 0.0001 |
| MGB | 0.808 | 0.767 | P < 0.0001 |
| FHS | 0.856 | 0.818 | P < 0.0001 |
| All of Us | 0.827 | 0.791 | P = 0.0078 |
Adverse thoracic aortic events (model fit)
- AORTA Gene more informative, UK Biobank (n = 401 453)
- P = 0.0042
- AORTA Gene more informative, All of Us (n = 164 789)
- P = 0.049
Original publication
The AORTA Gene score for detection and risk stratification of ascending aortic dilation. Eur Heart J. Published 12 August 2024. doi:10.
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