Aortic & peripheral vascular disease
Early Vascular Aging Determined by 3-Dimensional Aortic Geometry: Genetic Determinants and Clinical Consequences
Authors' conclusion
Early aortic aging is significantly associated with adverse cardiac remodeling and important cardiovascular disease states. AVAI exhibits a polygenic, highly heritable genetic architecture. Mendelian randomization analyses support a causal association between AVAI and cardiovascular diseases, including atrial fibrillation, vascular dementia, aortic aneurysms, and aortic dissection.
Study context
- Population
- Participants of the UK Biobank (MRI) and the Penn Medicine BioBank (CT)56,104 MRI
- Outcome
- Aortic vascular age index (AVAI): difference between geometry-predicted vascular age and chronological age, as % of chronological age
Methodological detailsdeep learning 3D aortic segmentation, genome-wide association study, Mendelian randomization, polygenic risk score, 2 biobanks
- Deep learning 3D aortic segmentation
- Genome-wide association study
- Mendelian randomization
- Polygenic risk score
- 2 biobanks
Performance
As reported in the abstract
Standardized β
0.144
95% CI 0.138–0.149P < 0.0001
LV mass
Standardized β
0.061
95% CI 0.054–0.068P < 0.0001
wall thickness
Standardized β
0.060
95% CI 0.050–0.069P < 0.0001
left atrial maximum volume
Further findings
Genetic architecture of aortic vascular age index (AVAI)
- Genetic heritability (h2)
- 40.24%
- Independent genetic loci associated with AVAI (P<5×10-8), with gene-level associations with FBN1 and elastin (ELN1)
- 54
Mendelian randomization
- Causal associations supported between AVAI and AF, vascular dementia, aortic aneurysm and aortic dissection
Polygenic risk score for AVAI
- Associated with increased prevalence of AF, hypertension, aortic aneurysm and aortic dissection
Original publication
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