Aortic & peripheral vascular disease

The Genetic Determinants of Aortic Distention

J Am Coll CardiolPublished Genome-wide association study with deep learning image analysis

Authors' conclusion

Genetic determinants of aortic function influence risk for stroke and coronary artery disease and may lead to novel targets for medical intervention.

Study context

Population
UK Biobank participants with CMR imaging
Participants
42,342 participants
Outcome
Epidemiologic correlates and genetic determinants of aortic distensibility and strain
Methodological detailsUK Biobank, deep learning CMR quantification
  • UK Biobank
  • Deep learning CMR quantification

Main finding

As reported in the abstract

Descending aortic distensibility vs future stroke, HR per SD
0.59
P for association of descending aortic distensibility with stroke
P = 0.00031
Heritability of aortic distensibility
22% to 25%
Heritability of aortic strain
30% to 33%
Loci for ascending aortic distensibility
12
Loci for ascending aortic strain
26
Loci for descending aortic distensibility
11
Loci for descending aortic strain
21
Newly identified loci not significantly associated with thoracic aortic diameter
22

Further findings

Polygenic scores for aortic strain and distensibility predicting CV outcomes

Delaying or accelerating disease onset per SD change in scores (modest effect sizes)
2%-18%
Remained statistically significant predictors after accounting for aortic diameter polygenic scores

Original publication

The Genetic Determinants of Aortic Distention. J Am Coll Cardiol. Published 11 April 2023. doi:10.1016/j.jacc.2023.01.044

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