Abstract
In recent years there has been a great progress in molecular biology techniques, which has facilitated the researches on influence of genetics on human performance. There are specific regions of DNA that can vary between individuals. Such variations (i.e., polymorphisms) may, in part, explain why some individuals have differentiated responses to certain stimuli, including the responses to sports training. In a particular sport, the presence of specific polymorphisms may contribute to high levels of performance. Since 1998, several polymorphisms have been associated with athletic phenotypes; however the accumulation of information generated over these 15 years shows that the influence of genetics to sport is extremely complex. In this review, we will summarise the current status of the field, discussing the implications of available knowledge for the practice of professionals involved with the sport and suggesting future directions for research. We also discuss topics related to the importance of polygenic profile characterization of athletes, methods for the identification of new polymorphisms associated with physical performance, the use of genetic testing for predicting competitive success, and how crucial is the genetic profile for the success athletes in competition.
Highlights
Introduction e determinants of human athletic performance have long been a challenging eld of study in sport sciences
177 and familial aggregation studies, investigators were able to estimate the percentage contribution of genetic factors to muscle fibre type distribution and enzyme activities[5,6], bone density and muscle strength[7], aerobic[8] and anaerobic capacities[9], among other performance-relevant variables. These studies did not provide speci c information on which particular genes and genetic variants would be involved in such genetic in uences. e rst polymorphism related to sport performance was not identi ed until 1998 . 10-11
Over the past 15 years, the advances in biotechnology and molecular biology tools have facilitated a rapid increase in the identi cation of structural genetic variations capable of exerting some in uence on the phenotypes related to athletic performance[12]
Summary
For the bene t of reader, the terms and concepts most important for understanding this discussion are brie y revised below. A gene is considered a speci c region of the genome whose DNA sequence encodes a biologically active product, which is, in most cases, a RNA molecule that results in a protein. All human beings share all the same genes, they display some slight structural variations in On the other hand, when genetic variants occur in noncoding regions of the genome, the protein structure is normally una ected and its physiological impact tends to be less pronounced. In these cases, it is more likely that the rate of the gene expression is a ected. Due to its multifactorial nature, it is normally di cult to establish a strong association between one single genetic variant and a complex phenotype, which often imposes a hurdle to the studies attempting to identify speci c genes that in uence a complex phenotype. is explains, at least in part, why the associations between genetic polymorphisms and athletic performance are normally weak and frequently not con rmed in replication studies
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