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September 12, 2026Journal of the American College of CardiologyOpen Access

The Genetic Determinants of Aortic Distention

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Why the study?

Aortic distensibility decreases with age and vascular disease, but its epidemiological correlates and genetic determinants are not fully established.

Population

42,342 UK Biobank participants

Key result

Greater descending aortic distensibility was associated with a significantly lower risk of future stroke (HR 0.59 per SD increase) and other cardiovascular diseases.

Authors

JPJames P. PirruccelloJRJoel RämöSCSeung Hoan Choi

Discussion

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Key expert perspectives

Captured external expert commentary on this paper, strongest first. Original sources are linked where available.

JWJohn W. BelmontGeneticist, Baylor College of Medicine

“The aorta is not a passive conduit, but is rather an active organ that plays multiple roles in cardiovascular physiology. The normal function of the aorta depends on its elasticity to buffer the pulsatile flow generated by ventricular contraction.”

Baylor College of MedicineEditorial
JPJames P. PirruccelloCardiologist, Massachusetts General Hospital

“Analysis of aortic distensibility from 40,000 UK Biobank MRIs now out in @JACCjournals reveals medication effects; links to coronary disease and stroke; and new genetic loci for strain and distensibility that aren't found when just looking at static aortic diameter.”

Massachusetts General Hospital / Broad InstituteSocial Media

Overview

Cohort study reveals genetic determinants of aortic distensibility in over 42,000 adults, suggesting aortic biomechanics directly influence stroke and heart disease risk.

Key Points

  • To identify epidemiological correlates and genetic determinants of aortic distensibility and strain using automated cardiac imaging analysis.
  • Trained a deep learning model to evaluate thoracic aortic area across the cardiac cycle from cardiac magnetic resonance images in 42,342 UK Biobank participants.
  • Quantified aortic distensibility and strain to estimate heritability, perform genome-wide association studies, and construct polygenic risk scores.
  • Descending aortic distensibility was inversely associated with incident stroke (HR 0.59 per SD, P = 3.1E-04).
  • Heritability was estimated at 22–25% for distensibility and 30–33% for strain, with common variant analyses mapping 12 and 26 loci for ascending, and 11 and 21 loci for descending aortic distensibility and strain, respectively.
  • Polygenic scores for aortic strain and distensibility altered cardiovascular disease onset by 2–18% per standard deviation change and remained predictive independently of aortic diameter polygenic scores.

Study Design

Type

Cohort (n=42,342)

Multicenter

Yes

PICO

P
Population
42,342 UK Biobank participants aged 40 to 69 years at recruitment who underwent cardiac magnetic resonance imaging to assess aortic distensibility and its genetic determinants.
E
Exposure / Comparator
Descending aortic distensibility vs Lower distensibility (per SD decrease)
O
Primary Outcome
Incident stroke — HR 0.59, p=0.00031

Main Result

Hazard Ratio: 0.59

p-value: p=0.00031

Limitations

  • Deep learning models have not been tested outside of the specific devices and imaging protocols used by the UK Biobank
  • Study population was largely composed of people of European ancestries, limiting generalizability to global populations
  • Central pulse pressure was estimated by a validated device and not directly measured
  • The effect of medication classes on aortic phenotypes was estimated based on a biased sample
  • Did not conduct external replication of the genetic analysis

Cite This Study

Pirruccello et al. (2023) conducted a cohort in Cardiovascular disease (n=42,342). Descending aortic distensibility vs. Lower distensibility (per SD decrease) was evaluated on Incident stroke (HR 0.59, p=0.00031). Greater descending aortic distensibility was associated with a significantly lower risk of future stroke (HR 0.59 per SD increase) and other cardiovascular diseases.

synapsesocial.com/papers/6aa518f68a556e17f23c0622https://doi.org/10.1016/j.jacc.2023.01.044
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