Korean J Physiol Pharmacol.  2021 Jan;25(1):1-14. 10.4196/kjpp.2021.25.1.1.

Genetic approaches toward understanding the individual variation in cardiac structure, function and responses to exercise training

  • 1Department of Sports Science, Seoul National University of Science and Technology, Seoul 01811, Korea


Cardiovascular disease (CVD) accounts for approximately 30% of all deaths worldwide and its prevalence is constantly increasing despite advancements in medical treatments. Cardiac remodeling and dysfunction are independent risk factors for CVD. Recent studies have demonstrated that cardiac structure and function are genetically influenced, suggesting that understanding the genetic basis for cardiac structure and function could provide new insights into developing novel therapeutic targets for CVD. Regular exercise has long been considered a robust nontherapeutic method of treating or preventing CVD. However, recent studies also indicate that there is inter-individual variation in response to exercise. Nevertheless, the genetic basis for cardiac structure and function as well as their responses to exercise training have yet to be fully elucidated. Therefore, this review summarizes accumulated evidence supporting the genetic contribution to these traits, including findings from population-based studies and unbiased large genomic-scale studies in humans.


Exercise; Heart; Multifactorial inheritance; Phenotype; Quantitative trait loci
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