Genetics of Athletic Performance


Athletic ability is considered to be a complex genetic trait involving the interaction of genes with the environment. An understanding of the genetics of human performance is being sought in a number of research studies using laboratory and computer‐based strategies. Ultimately, an in‐depth understanding of how genes influence human performance has potential for use in talent search programmes and perhaps predicting those who might be predisposed to particular injuries. Many genes have now been identified through association studies to have a possible role in athletic performance but most remain to be confirmed through functional studies. Interest is also moving to novel modes of genetic inheritance including epigenetics and copy number variations. Despite being at the beginning of our understanding of how heritable factors influence athletic performance, there is considerable optimism that the newly developed genomic technologies will identify important genes.

Key Concepts:

  • Athletic performance is a complex trait involving the contribution of many genes and environmental factors as well as yet to be defined gene–gene and gene–environment interactions.

  • Genetic association studies are used for gene discovery of complex traits. However, this approach is limiting in terms of identifying small multiple effects or the environmental components.

  • Although current knowledge of the genetics of athletic performance is in its infancy, a number of genes are starting to provide insight into molecular mechanisms likely to be involved in athletic performance.

Keywords: complex trait; athletic performance; heritability; gene–environment interactions; association study; trainability; EPAS1; ACE; ACTN3; epigenetics

Figure 1.

The effects of gene–environment interactions on athletic performance. Individual genetic makeup is represented by an orange rectangle with genetic potential as a dashed line. The interindividual variability for athletic ability will be present in the untrained individual, but the phenotype will not be remarkable. Natural ability reflecting the genome with its physiological response to training, and mental attitude is depicted by the orange colour while nurture is in green. Environmental factors have to interact with the genetic factors to produce a particular phenotype. Genetic makeup sets the limit to athletic potential but environmental factors actualise the individual's potential within that limit.

Figure 2.

Potential molecular mechanisms by which EPAS1 can influence athletic performance. The EPAS1 gene is the α‐unit of the hypoxia‐inducing factor and dimerises with the β‐unit – aryl hydrocarbon receptor nuclear translocator (ARNT). EPAS1 has an oxygen‐dependent degradation (ODD) unit, which facilitates the protein degradation in the presence of oxygen. Hypoxia‐inducing factor via the basic helix–loop–helix (bHLH) domains interacts with the hypoxia responding element in its down‐stream target genes. Endurance training and competition are likely to cause oxygen deficiency in the body, which can subsequently stimulate the expression of the EPAS1 gene. This represents a gene–environment interaction. EPAS1 expression in brain can be a potential central sensor. Its highest expression in the lungs enhances the efficient oxygen intake. EPAS1 can improve cardiovascular function via the adrenomedullin gene; enhance angiogenesis by upregulation of both adrenomedullin and vascular endothelial growth factor (VEGF) genes; and increase oxygen‐carrying capacity through its stimulatory effect on the erythropoietin gene. EPAS1 also enhances energy metabolism in skeletal muscle (Oie et al., ; Yanagawa and Nagaya, ). The EPO gene is the down‐stream target gene of EPAS1 and is relevants to oxygen‐carrying capacity as previously discussed. These biological effects of EPAS1 would be particularly beneficial for endurance athletes.



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Further Reading

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Yu, Bing, and Trent, Ronald J(Jun 2010) Genetics of Athletic Performance. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0022400]