Why the study?
Abnormal diastolic function is related to cardiovascular disease processes and predicts health outcomes, but its genetic architecture is largely unknown.
Population
39,559 participants of the UK Biobank
Design
Genome-wide association study using machine learning cardiac motion analysis
Key result
A genome-wide association study of 39,559 UK Biobank participants identified nine independent loci associated with diastolic function traits and demonstrated a causal relationship between genetically determined ventricular stiffness and incident heart failure.
Authors
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Supports causal role of ventricular stiffness in HF risk; leaves open whether loci guide prevention or therapy.
Observational (n=39,559)
Yes
This large-scale genome-wide association study identified 9 novel genetic loci associated with CMR-derived diastolic function traits and established a causal link between genetically determined ventricular stiffness and incident heart failure.
Thanaj et al. (2022) conducted an observational in Diastolic heart function (n=39,559). Genetic variants (Genome-Wide Association Study) was evaluated on Genetic loci associated with diastolic function traits (radial and longitudinal peak early diastolic strain rate and maximum indexed left atrial volume). A genome-wide association study of 39,559 UK Biobank participants identified nine independent loci associated with diastolic function traits and demonstrated a causal relationship between genetically determined ventricular stiffness and incident heart failure.