Genetics of Athletic Performance

Bing Yu, University of Sydney and Department of Molecular & Clinical Genetics, Camperdown, New South Wales, Australia
Ronald J Trent, University of Sydney and Department of Molecular & Clinical Genetics, Camperdown, New South Wales, Australia

Published online: June 2010

DOI: 10.1002/9780470015902.a0022400

Abstract

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 (ODD) unit, which facilitates the protein degradation in the presence of oxygen. Hypoxia‐inducing factor via the (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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References

Bouchard C, Daw EW, Rice T et al. (1998) Familial resemblance for VO2max in the sedentary state: the HERITAGE family study. Medicine and Science in Sports and Exercise 30: 252–258.

Bouchard C, Lesage R, Lortie G et al. (1986) Aerobic performance in brothers, dizygotic and monozygotic twins. Medicine and Science in Sports and Exercise 18: 639–646.

Bouchard C, Malina RM and Perusse L (1997) Genetics of Fitness and Physical Performance. Chaign, IL: Human Kinetics Publishers.

Bouchard C, Rankinen T, Chagnon YC et al. (2000) Genomic scan for maximal oxygen uptake and its response to training in the HERITAGE family study. Journal of Applied Physiology 88: 551–559.

Bray MS, Hagberg JM, Perusse L et al. (2009) The human gene map for performance and health‐related fitness phenotypes: the 2006‐2007 update. Medicine and Science in Sports and Exercise 41: 35–73.

de la Chapelle A, Traskelin AL and Juvonen E (1993) Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. Proceedings of the National Academy of Sciences of the USA 90: 4495–4499.

Druzhevskaya AM, Ahmetov II, Astratenkova IV et al. (2008) Association of the ACTN3 R577X polymorphism with power athlete status in Russians. European Journal of Applied Physiology 103: 631–634.

Eynon N, Alves AJ, Meckel Y et al. (2010) Is the interaction between HIF1A P582S and ACTN3 R577X determinant for power/sprint performance? Metabolism [Epub ahead of print, PMID: 20028934].

Franklin BA, Fletcher GF, Gordon NF et al. (1997) Cardiovascular evaluation of the athlete. Issues regarding performance, screening and sudden cardiac death. Sports Medicine 24: 97–119.

Gayagay G, Yu B, Hambly B et al. (1998) Elite endurance athletes and the ACE I allele: the role of genes in athletic performance. Human Genetics 103: 48–50.

Hamel P, Simoneau JA, Lortie G et al. (1986) Heredity and muscle adaptation to endurance training. Medicine and Science in Sports and Exercise 18: 690–696.

Henderson J, Withford‐Cave JM, Duffy DL et al. (2005) The EPAS1 gene influences the aerobic‐anaerobic contribution in elite endurance athletes. Human Genetics 118: 416–423.

Katzmarzk P and Bouchard C (2005) Human Body Composition, 2nd edn. Champaign, IL: Human Kinetics Publishers.

Klissouras V (1971) Heritability of adaptive variation. Journal of Applied Physiology 31: 338–344.

Klissouras V (1973) Prediction of potential performance with special reference to heredity. Journal of Sports Medicine and Physical Fitness 13: 100–107.

Klissouras V and Pigozzi F (2009) Genetic limits of sport performance: Quo vadis? Journal of Sports Medicine and Physical Fitness 49: 1–5.

Komi PV, Klissouras V and Karvinen E (1973) Genetic variation in neuromuscular performance. Internationale Zeitschrift fur angewandte Physiologie, einschliesslich Arbeitshpysiologie 31: 289–304.

MacArthur DG, Seto JT, Chan S et al. (2008) An Actn3 knockout mouse provides mechanistic insights into the association between alpha‐actinin‐3 deficiency and human athletic performance. Human Molecular Genetics 17: 1076–1086.

Maes HH, Beunen GP, Vlietinck RF et al. (1996) Inheritance of physical fitness in 10‐yr‐old twins and their parents. Medicine and Science in Sports and Exercise 28: 1479–1491.

Malina RM and Bouchard C (1986) Sport and Human Genetics. Champaign, IL: Human Kinetics Publishers.

Mokone GG, Schwellnus MP, Noakes TD et al. (2006) The COL5A1 gene and Achilles tendon pathology. Scandinavian Journal of Medicine and Science in Sports 16: 19–26.

Montgomery HE, Marshall R, Hemingway H et al. (1998) Human gene for physical performance. Nature 393: 221–222.

Niemi AK and Majamaa K (2005) Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. European Journal of Human Genetics 13: 965–969.

Oie E, Ahmed MS, Ueland T et al. (2010) Adrenomedullin is increased in alveolar macrophages and released from the lungs into the circulation in severe heart failure. Basic Research in Cardiology 105: 89–98.

Papadimitriou ID, Papadopoulos C, Kouvatsi A et al. (2008) The ACTN3 gene in elite Greek track and field athletes. International Journal of Sports Medicine 29: 352–355.

Prud'homme D, Bouchard C, Leblanc C et al. (1984) Sensitivity of maximal aerobic power to training is genotype‐dependent. Medicine and Science in Sports and Exercise 16: 489–493.

Roth SM, Walsh S, Liu D et al. (2008) The ACTN3 R577X nonsense allele is under‐represented in elite‐level strength athletes. European Journal of Human Genetics 16: 391–394.

Santiago C, Gonzalez‐Freire M, Serratosa L et al. (2008) ACTN3 genotype in professional soccer players. British Journal of Sports Medicine 42: 71–73.

Sebat J (2007) Major changes in our DNA lead to major changes in our thinking. Nature Genetics 39: S3–S5.

Simoneau JA, Lortie G, Boulay MR et al. (1986) Inheritance of human skeletal muscle and anaerobic capacity adaptation to high‐intensity intermittent training. International Journal of Sports Medicine 7: 167–171.

Woods D (2009) Angiotensin‐converting enzyme, renin‐angiotensin system and human performance. In: Collins M (ed.) Genetics and Sports, pp. 72–87. Basel: Karger.

Yanagawa B and Nagaya N (2007) Adrenomedullin: molecular mechanisms and its role in cardiac disease. Amino Acids 32: 157–164.

Yang N, MacArthur DG, Gulbin JP et al. (2003) ACTN3 genotype is associated with human elite athletic performance. American Journal of Human Genetics 73: 627–631.

Yu B (2008) In silico gene discovery. In: Trent RJ (ed.) Clinical Bioinformatics, pp. 1–22. Totowa, NJ: Humana Press.

Further Reading

Collins M (ed.) (2009) Genetics and Sports. Medicine and Sport Science, pp. 1–195. Basel: Karger.

Ostrander ER, Huson HJ and Ostrander GK (2009) Genetics of athletic performance. Annual Review of Genomics and Human Genetics 10: 407–429.

Related Sub-Topics:

Bioinformatics and Genetic Disease | Inter-Individual Variation and Polymorphism | Quantitative Genetics | Linkage Analysis
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Article Title: Genetics of Athletic Performance
 
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Yu, Bing, and Trent, Ronald J(Jun 2010) Genetics of Athletic Performance. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0022400]