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Revista Brasileira de Medicina do Esporte
Print version ISSN 1517-8692
DIAS, Rodrigo Gonçalves. Genetics, human physical performance and gene doping: the common sense versus the scientific reality. Rev Bras Med Esporte [online]. 2011, vol.17, n.1, pp.62-70. ISSN 1517-8692. http://dx.doi.org/10.1590/S1517-86922011000100012.
Elite athletes have always been referred to as sports phenomena and their potential to reach higher performance levels in sports, far beyond normal range, is partially under the control of genes. Athletic excellence is essentially multifactorial and it is determined by a complex interaction of environmental and genetic factors. There are almost 10 million genetic variants spread throughout the entire human genome and some of them have been proven to affect physical training responsiveness. The human performance phenotypes seem to be highly polygenic and previous research has found rare genotype combinations in elite athletes. Nevertheless, the mechanisms through which genes interact with each other in order to improve physical performance are unknown. The knowledge on genes that influence trainability added to the potential misuse of advances in gene therapy, such as the possible introduction of genes into athlete cells, gave way to the terminology gene doping, a new and prohibited method of enhancing athletic performance above physiological limits. Increase in skeletal muscle hypertrophy and haematocrit levels has been achieved by the manipulation of the expression of specific genes, but great part of impressive changes in these phenotypes have been obtained using laboratory animals. The understanding on the scientific studies enclosing genetics, human physical performance and gene doping is an intricate task. This review intentionally highlights the scientific evidence that has been produced so far on this popular topic, with the purpose to avoid continuous misinterpretation and spreading of faulty concepts allowing hence the comprehension on the current "state of the art" in this field
Keywords : Genes; genetic variants; physical performance; elite athletes; doping.