Home Can genotype determine the sports phenotype? A paradigm shift in sports medicine
Article
Licensed
Unlicensed Requires Authentication

Can genotype determine the sports phenotype? A paradigm shift in sports medicine

  • Amit Ghosh EMAIL logo and Preetam B. Mahajan
Published/Copyright: January 14, 2016

Abstract

In last two decades, there has been an evolution in sports medicine. Several researchers have worked on different domains of sports medicine, like strength, endurance, sports injury, and psychology. Besides this, several groups have explored the changes at cellular and molecular levels during exercise, which has led to the development of the new domain in sports science known as genetic medicine. Genetic medicine deals with the genotypic basis of sports phenotype. In this article, we try to provide an up-to-date review on genetic determinants of sports performance, which will be like a journey from the nostalgic past towards the traditional present and the romantic future of sports medicine. Endurance and power performance are two important domains of athletes. They vary in individuals, even among trained athletes. Researches indicate that the genetic makeup of sportsmen play a vital role in their performance. Several genetic factors are reported to be responsible for endurance, power, susceptibility to injury, and even psychology of the individual. Besides this, proper training, nutrition, and environment are also important in shaping their potential. The aim of this discussion is to understand the influence of the environment and the genetic makeup on the performance of the athletes. There is sufficient evidence to suggest that genotype determines the sports phenotype in an athlete. Choosing the right sports activity based on genetic endowment is the key for achieving excellence in sports.


Corresponding author: Dr. Amit Ghosh, All India Institute of Medical Sciences, Department of Physiology, Bhubaneswar, Sijua, Patrapada, Bhubaneswar-751019, Odisha, India, e-mail:

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

References

1. Wikipedia, the Free Encyclopedia. All-time Olympic games medal table. 2015 [cited 2015 June 30]. Available from: https://en.wikipedia.org/w/index.php?title=All-time_Olympic_Games_medal_table&oldid=667488823.Search in Google Scholar

2. Olympic Movement. London 2012, Athletics, 100M men final [cited 2015 July 2]. Available from: http://www.olympic.org/olympic-results/london-2012/athletics/100m-m.Search in Google Scholar

3. Entine J. What makes a great Olympian? Sometimes it’s genetics. The Daily Beast. 2012 [cited 2015 July 2]. Available from: http://www.thedailybeast.com/articles/2012/08/11/what-makes-a-great-olympian-sometimes-it-s-genetics.html.Search in Google Scholar

4. Olympic Movement. Official Olympic Games Results [cited 2015 July 2]. Available from: http://www.olympic.org/olympic-results.Search in Google Scholar

5. Boston Athletic Association. The Boston Marathon [cited 2015 July 2]. Available from: http://www.baa.org/races/boston-marathon/results-commentary.aspx.Search in Google Scholar

6. de la Chapelle A, Träskelin AL, Juvonen E. Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. Proc Natl Acad Sci USA 1993;90:4495–9.10.1073/pnas.90.10.4495Search in Google Scholar PubMed PubMed Central

7. Epstein D. The sports gene: inside the science of extraordinary athletic performance. Current 2014;368:29–44.Search in Google Scholar

8. Droma Y, Hanaoka M, Basnyat B, Arjyal A, Neupane P, Pandit A, et al. Adaptation to high altitude in Sherpas: association with the insertion/deletion polymorphism in the angiotensin-converting enzyme gene. Wilderness Environ Med 2008;19:22–9.10.1580/06-WEME-OR-073.1Search in Google Scholar PubMed

9. Bhagi S, Srivastava S, Sarkar S, Singh SB. Distribution of performance-related gene polymorphisms (ACTN3 R577X and ACE ID) in different ethnic groups of the Indian Army. J Basic Clin Physiol Pharmacol 2013;24:225–34.10.1515/jbcpp-2013-0068Search in Google Scholar PubMed

10. Rankinen T, Bray MS, Hagberg JM, Pérusse L, Roth SM, Wolfarth B, et al. The human gene map for performance and health-related fitness phenotypes: the 2005 update. Med Sci Sports Exerc 2006;38:1863–88.10.1249/01.mss.0000233789.01164.4fSearch in Google Scholar PubMed

11. International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature 2004;431:931–45.10.1038/nature03001Search in Google Scholar PubMed

12. Lippi G, Longo UG, Maffulli N. Genetics and sports. Br Med Bull 2010;93:27–47.10.1093/bmb/ldp007Search in Google Scholar PubMed

13. Puthucheary Z, Skipworth JR, Rawal J, Loosemore M, Van Someren K, Montgomery HE. Genetic influences in sport and physical performance. Sports Med 2011;41:845–59.10.2165/11593200-000000000-00000Search in Google Scholar PubMed

14. Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, et al. ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet 2003;73:627–31.10.1086/377590Search in Google Scholar PubMed PubMed Central

15. MacArthur DG, North KN. A gene for speed? The evolution and function of alpha-actinin-3. Bioessays 2004;26:786–95.10.1002/bies.20061Search in Google Scholar PubMed

16. Clarkson PM, Devaney JM, Gordish-Dressman H, Thompson PD, Hubal MJ, Urso M, et al. ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women. J Appl Physiol (1985) 2005;99:154–63.10.1152/japplphysiol.01139.2004Search in Google Scholar PubMed

17. Berman Y, North KN. A gene for speed: the emerging role of alpha-actinin-3 in muscle metabolism. Physiology (Bethesda) 2010;25:250–9.10.1152/physiol.00008.2010Search in Google Scholar

18. North KN, Beggs AH. Deficiency of a skeletal muscle isoform of alpha-actinin(alpha-actinin-3) in merosin-positive congenital muscular dystrophy. Neuromuscul Disord 1996;6:229–35.10.1016/0960-8966(96)00361-6Search in Google Scholar

19. Vincent B, De Bock K, Ramaekers M, Van den Eede E, Van Leemputte M, Hespel P, et al. ACTN3 (R577X) genotype is associated with fiber type distribution. Physiol Genomics 2007;32:58–63.10.1152/physiolgenomics.00173.2007Search in Google Scholar

20. Kothari ST, Chheda P, Chawla S, Chatterjee L, Chaudhry SK, Das BR. ACTN3 R577X polymorphism in Asian Indian athletes. Int J Hum Genet 2011:11:149–53.10.1080/09723757.2011.11886137Search in Google Scholar

21. MacArthur DG, Seto JT, Chan S, Quinlan KG, Raftery JM, Turner N, et al. An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance. Hum Mol Genet 2008;17:1076–86.10.1093/hmg/ddm380Search in Google Scholar

22. Seto JT, Quinlan KG, Lek M, Zheng XF, Garton F, MacArthur DG, et al. ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling. J Clin Invest 2013;123:4255–63.10.1172/JCI67691Search in Google Scholar

23. Rieder MJ, Taylor SL, Clark AG, Nickerson DA. Sequence variation in the human angiotensin converting enzyme. Nat Genet 1999;22:59–62.10.1038/8760Search in Google Scholar

24. Rigat B, Hubert C, Alhenc-Gelas F, Cambien F, Corvol P, Soubrier F. An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J Clin Invest 1990;86:1343–6.10.1172/JCI114844Search in Google Scholar

25. Montgomery H, Clarkson P, Barnard M, Bell J, Brynes A, Dollery C, et al. Angiotensin-converting-enzyme geneinsertion/deletion polymorphism and response to physical training. Lancet 1999;353:541–5.10.1016/S0140-6736(98)07131-1Search in Google Scholar

26. Folland J, Leach B, Little T, Hawker K, Myerson S, Montgomery H, et al. Angiotensin-converting enzyme genotype affects the response of human skeletal muscle to functional overload. Exp Physiol 2000;85:575–9.10.1111/j.1469-445X.2000.02057.xSearch in Google Scholar

27. Wang YX, Zhang CL, Yu RT, Cho HK, Nelson MC, Bayuga-Ocampo CR, et al. Regulation of muscle fiber type and running endurance by PPARdelta. PLoS Biol 2004;2:e294. Epub 2004 Aug 24. Erratum in: PLoS Biol 2005;3:e61.10.1371/journal.pbio.0020294Search in Google Scholar

28. Zierath JR, Hawley JA. Skeletal muscle fiber type: influence on contractile and metabolic properties. PLoS Biol 2004;2:e348.10.1371/journal.pbio.0020348Search in Google Scholar

29. Evans RM, Barish GD, Wang YX. PPARs and the complex journey to obesity. Nat Med 2004;10:355–61.10.1038/nm1025Search in Google Scholar

30. Akhmetov II, Astranenkova IV, Rogozkin VA. [Association of PPARD gene polymorphism with human physical performance]. Mol Biol (Mosk) 2007;41:852–7.10.1134/S002689330705010XSearch in Google Scholar

31. Whittemore LA, Song K, Li X, Aghajanian J, Davies M, Girgenrath S, et al. Inhibition of myostatin in adult mice increases skeletal muscle mass and strength. Biochem Biophys Res Commun 2003;300:965–71.10.1016/S0006-291X(02)02953-4Search in Google Scholar

32. Matsakas A, Diel P. The growth factor myostatin, a key regulator in skeletal muscle growth and homeostasis. Int J Sports Med 2005;26:83–9.10.1055/s-2004-830451Search in Google Scholar PubMed

33. Fedoruk MN, Rupert JL. Myostatin inhibition: a potential performance enhancement strategy? Scand J Med Sci Sports 2008;18:123–31.10.1111/j.1600-0838.2007.00759.xSearch in Google Scholar PubMed

34. Mokone GG, Schwellnus MP, Noakes TD, Collins M. The COL5A1 gene and Achilles tendon pathology. Scand J Med Sci Sports 2006;16:19–26.10.1111/j.1600-0838.2005.00439.xSearch in Google Scholar PubMed

35. September AV, Cook J, Handley CJ, van der Merwe L, Schwellnus MP, Collins M. Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations. Br J Sports Med 2009;43:357–65.10.1136/bjsm.2008.048793Search in Google Scholar PubMed

36. Foster BP, Morse CI, Onambele-Pearson G, Ahmetov II, Williams, Alun G. Genetic variation, protein composition and potential influences on tendon properties in humans. Open Sports Med J 2012;6;8–21.10.2174/1874387001206010008Search in Google Scholar

37. Mokone GG, Gajjar M, September AV, Schwellnus MP, Greenberg J, Noakes TD, et al. The guanine-thymine dinucleotide repeat polymorphism within the tenascin-C gene is associated with achilles tendon injuries. Am J Sports Med 2005;33:1016–21.10.1177/0363546504271986Search in Google Scholar PubMed

38. Jordan BD, Relkin NR, Ravdin LD, Jacobs AR, Bennett A, Gandy S. Apolipoprotein E epsilon4 associated with chronic traumatic brain injury in boxing. J Am Med Assoc 1997;278:136–40.10.1001/jama.278.2.136Search in Google Scholar

39. Jordan BD. Genetic susceptibility to brain injury in sports: a role for genetic testing in athletes? Phys Sportsmed 1998;26:25–6.10.3810/psm.1998.02.928Search in Google Scholar

40. Teasdale GM, Nicoll JA, Murray G, Fiddes M. Association of apolipoprotein E polymorphism with outcome after head injury. Lancet 1997;350:1069–71.10.1016/S0140-6736(97)04318-3Search in Google Scholar

41. Maliuchenko NV, Sysoeva OV, Vediakov AM, Timofeeva MA, Portanova GV, Ivanitski AM, et al. [Effect of 5HTT genetic polymorphism on aggression in athletes]. Zh Vyssh Nerv Deiat Im I P Pavlova 2007;57:276–81.Search in Google Scholar

42. Heled Y, Moran DS, Mendel L, Laor A, Pras E, Shapiro Y. Human ACE I/D polymorphism is associated with individual differences in exercise heat tolerance. J Appl Physiol (1985) 2004;97:72–6.10.1152/japplphysiol.01087.2003Search in Google Scholar

43. Deuster PA, Contreras-Sesvold CL, O’Connor FG, Campbell WW, Kenney K, Capacchione JF, et al. Genetic polymorphisms associated with exertional rhabdomyolysis. Eur J Appl Physiol 2013;113:1997–2004.10.1007/s00421-013-2622-ySearch in Google Scholar

44. Bryan A, Hutchison KE, Seals DR, Allen DL. A transdisciplinary model integrating genetic, physiological, and psychological correlates of voluntary exercise. Health Psychol 2007;26:30–9.10.1037/0278-6133.26.1.30Search in Google Scholar

45. Ahad F, Ganie SA. Iodine, Iodine metabolism and Iodine deficiency disorders revisited. Indian J Endocrinol Metab 2010;14:13–7.Search in Google Scholar

46. Manners J. Kenya’s running tribe. Sports Hist 1997;117:14–27.10.1080/17460269709445785Search in Google Scholar

47. Onywera VO, Scott RA, Boit MK, Pitsiladis YP. Demographic characteristics of elite Kenyan endurance runners. J Sports Sci 2006;24:415–22.10.1080/02640410500189033Search in Google Scholar

48. Lee RC, Feinbaum RL, Ambros V. The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14. Cell 1993;75:843–54.10.1016/0092-8674(93)90529-YSearch in Google Scholar

49. Quach H, Barreiro LB, Laval G, Zidane N, Patin E, Kidd KK, et al. Signatures of purifying and local positive selection in human miRNAs. Am J Hum Genet 2009;84:316–27.10.1016/j.ajhg.2009.01.022Search in Google Scholar PubMed PubMed Central

50. Chen JF, Mandel EM, Thomson JM, Wu Q, Callis TE, Hammond SM, et al. The role of microRNA-1 and microRNA-133 in skeletal muscle proliferation and differentiation. Nat Genet 2006;38:228–33.10.1038/ng1725Search in Google Scholar PubMed PubMed Central

51. Baggish AL, Hale A, Weiner RB, Lewis GD, Systrom D, Wang F, et al. Dynamic regulation of circulating microRNA during acute exhaustive exercise and sustained aerobic exercise training. J Physiol 2011;589(Pt 16):3983–94.10.1113/jphysiol.2011.213363Search in Google Scholar PubMed PubMed Central

52. Poliseno L, Tuccoli A, Mariani L, Evangelista M, Citti L, Woods K, et al. MicroRNAs modulate the angiogenic properties of HUVECs. Blood 2006;108:3068–71.10.1182/blood-2006-01-012369Search in Google Scholar PubMed

Received: 2015-7-26
Accepted: 2015-11-12
Published Online: 2016-1-14
Published in Print: 2016-6-1

©2016 by De Gruyter

Articles in the same Issue

  1. Frontmatter
  2. Reviews
  3. Assessment of paediatric pain: a critical review
  4. Can genotype determine the sports phenotype? A paradigm shift in sports medicine
  5. Oxidative Stress
  6. Neuroprotective effect of Decalepis hamiltonii on cyclophosphamide-induced oxidative stress in the mouse brain
  7. Hydroxycitric acid ameliorates high-fructose-induced redox imbalance and activation of stress sensitive kinases in male Wistar rats
  8. Metabolism
  9. Glucose absorption in the intestine of albino rats
  10. Inflammation
  11. Antinociceptive and anti-inflammatory potentials of kolaviron: mechanisms of action
  12. Efficacy of oral vs. intratympanic corticosteroids in sudden sensorineural hearing loss
  13. Evaluation of antinociceptive and anti-inflammatory properties of methanolic crude extract of Lophopetalum javanicum (bark)
  14. Anti-nociceptive and anti-inflammatory effects of Withania somnifera root in fructose fed male rats
  15. Phytotherapy
  16. Biflavonoid fraction from Garcinia kola seed ameliorates hormonal imbalance and testicular oxidative damage by anti-tuberculosis drugs in Wistar rats
  17. Protective effect of Scutellaria species on AAPH-induced oxidative damage in human erythrocyte
  18. Miscellaneous
  19. Role of monocyte chemoattractant protein-1, stromal derived factor-1 and retinoic acid in pathophysiology of neuropathic pain in rats
  20. Hormonal and organ-specific dysfunction induced by the interaction between titanium dioxide nanoparticles and salicylic acid in male mice
  21. Case Report
  22. Blood pressure variability and baroreflex sensitivity of a healthy male during cold pressor test that induced development of neurocardiogenic syncope
Downloaded on 26.9.2025 from https://www.degruyterbrill.com/document/doi/10.1515/jbcpp-2015-0090/html
Scroll to top button