Advances in sports genomics

Perspectives in Sports Genomics

“…Sports genomics is the scientific discipline focusing on the organization and function of the genome in elite athletes and aims to develop molecular methods that may be used for sports medical practices, personalized exercise training, nutrition prescription and the prevention of exercise-related injury and/or disease [ 9 , 10 ]. Recently, a new subdiscipline of the field known as kinesiogenomics has been introduced, combining kinesiology—the scientific study of human movement—and genomics [ 11 ].…”

“…Indeed, there is evidence that 60% of the variation in baseline aerobic capacity and cardiac function (30–40% in cardiac parameter), 70–90% of the variation in anaerobic power and 50–70% of the variation in muscular strength can be explained by genetic factors [ 1 ]. Furthermore, it is well established that many of the essential biological processes that underpin sports performance are genetically influenced, including skeletal muscle energy metabolism, mitochondrial biogenesis, the formation of muscle, bone and cartilage, tissue oxygenation, erythropoiesis and angiogenesis [ 9 , 10 , 13 ]. Consequently, the frequency of research to identify specific genes and their variants contributing to elite performance, which might explain differences in physiological capacity between elite athletes, is increasing.…”

“…In recent years, the potential to use genetic information to maximize athletic performance and prevent injuries has been proposed [ 10 , 14 , 15 , 16 , 17 , 18 ], as has the suggestion that specific dietary interventions may be individually tailored according to an athlete’s microbiome [ 3 , 19 ]. It has also emerged that epigenetic factors regulating gene expression without changes in DNA sequence have an important role in the response to exercise training and the predisposition to injury or disease.…”

“…Other examples of candidate genes that have received notable attention, and which have subsequently been associated with phenotypes underpinning sprint, power or endurance performance, include the skeletal muscle isoform of α-actinin 3 ( ACTN3 ), adenosine monophosphate deaminase ( AMPD1 ), muscle creatine kinase ( CKM ), insulin-like growth factor ( IGF1 ) and the family of peroxisome proliferator-activated receptor ( PPAR ) genes. The associations of common genetic variants in these and other genes with a range of athletic performance phenotypes are comprehensively reviewed elsewhere [ 1 , 9 , 10 , 13 , 25 , 26 , 27 , 28 , 30 , 31 , 32 ].…”

“…At end of 2021, the total number of DNA polymorphisms associated with athlete status was 220, of which 97 markers have been found significant in at least two studies (35 endurance-related, 24 power-related and 38 strength-related) [ 10 ]. Furthermore, 29 genetic markers have been linked to soft-tissue injuries in at least two studies [ 10 ].…”