Genomics and Sports: Building a Bridge Towards a Rational and Personalized Training Framework

Abstract

It is now widely acknowledged that several genes influence the athletic performance and it is increasingly being highlighted that a major integration between genetic and environmental factors might contribute towards unveiling the most important determinants of physiology and pathology in humans, allowing the construction of a rational personalized framework that would be applied in both clinical and sport settings [[7], [9]]. The alpha-actinin 3 (ACTN3) gene, which encodes for a protein of the Z disk of myofibers, has been found to be associated with performance in elite athletes, in whom the R allele was more common in sprint and power athletes and the X allele more common in endurance athletes [[15]]. Data in a large sample size have also shown that women with the nonsense allele in ACTN3 are at a disadvantage in the ability to produce high-force isometric strength, but they are at an advantage in developing dynamic muscular strength in response to a progressive resistance training program. Up to 2 % of the variability in the absolute and relative difference in 1-repetition maximum strength and in the baseline elbow flexor isometric strength are attributable to the ACTN3 genotype [[2]]. Turley et al. further confirmed the presence of a substantial genetic influence on acute submaximal exercise and regular endurance training, as maximal oxygen uptake and training response are influenced by multigenetic effects, which account for nearly 40 % and 20 % of the variance, respectively [[13]].