Key result
A genome-wide association study identified 9 significant independent loci associated with diastolic heart function traits and demonstrated a causal relationship between ventricular stiffness and heart failure.
Why the study?
Abnormal diastolic function relates to cardiovascular diseases and predicts health outcomes, but its genetic architecture is largely unknown.
Observational (n=39,559)
Yes
Answers are grounded in this paper and cite their sources.
This large-scale genome-wide association study identifies novel genetic loci associated with diastolic function and provides Mendelian randomization evidence for a causal link between ventricular stiffness and heart failure.
Diastole is the sequence of physiological events that occur in the heart during ventricular filling and principally depends on myocardial relaxation and chamber stiffness. Abnormal diastolic function is related to many cardiovascular disease processes and is predictive of health outcomes, but its genetic architecture is largely unknown. Here, we use machine learning cardiac motion analysis to measure diastolic functional traits in 39,559 participants of UK Biobank and perform a genome-wide association study. We identified 9 significant, independent loci near genes that are associated with maintaining sarcomeric function under biomechanical stress and genes implicated in the development of cardiomyopathy. Age, sex and diabetes were independent predictors of diastolic function and we found a causal relationship between ventricular stiffness and heart failure. Our results provide novel insights into the genetic and environmental factors influencing diastolic function that are relevant for identifying causal relationships and tractable targets in heart failure.
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Thanaj et al. (2021) conducted an observational in Diastolic heart function (n=39,559). Genetic variants and environmental factors was evaluated on Diastolic functional traits (radial and longitudinal peak early diastolic strain rate, and maximum indexed left atrial volume) (p=5e-8). A genome-wide association study identified 9 significant independent loci associated with diastolic heart function traits and demonstrated a causal relationship between ventricular stiffness and heart failure.
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