The genetic basis of exercise and cardiorespiratory fitness – relation to cardiovascular disease

Endurance training is associated with increased cardiorespiratory fitness (CRF) and decreased risk of cardiovascular disease (CVD). However, a causal relationship between exercise, CRF, and CVD has not been confirmed. Exercise and CRF have a strong genetic component, estimated to be ∼50%. However, few genetic studies have been performed, as the gold-standard method for quantifying CRF is expensive, time-consuming, and requires advanced equipment. Conversely, self-reported information on physical activity (PA) is more easily available, but the uncertainty related to these data can introduce bias. Improved knowledge of genetic variants associated with exercise and CRF could provide causal links between exercise and CVD and contribute to new prevention and treatment strategies for CVD. This review presents the current knowledge of the genetics of exercise and CRF, and potential relationship with CVD, by highlighting the most comprehensive genetic and epigenetic studies on CRF, PA, and exercise response, as well as studies of gene–environment interactions.