Skip to main content

Genetic Polymorphisms Associated with Elite Athlete Status

  • Chapter
Sports Performance

Abstract

Variance in human physiological traits is understood to be the result of both environmental and genetic factors. Indeed, it has been reported that 66 % of the variance in athletic status is explained by genetic factors. Elucidating the substantial genetic contribution to elite athletic performance would enhance our understanding of the limits to human performance and improve methods for detecting sports talent. To date, a number of studies have attempted to identify genetic polymorphisms associated with athletic performance, and the number of genetic polymorphisms associated with physical performance-related phenotypes are increasing every year. In this chapter, we introduce some of these studies focusing on mitochondrial DNA polymorphisms and the two most studied nuclear DNA polymorphisms, namely angiotensin I-converting enzyme (ACE) and α-actinin-3 (ACTN3) polymorphisms.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 109.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  • Ahmetov II, Fedotovskaya ON (2012) Sports genomics: current state of knowledge and future directions. Cell Mol Exerc Physiol 1(1):e1

    Article  Google Scholar 

  • Ahmetov II, Druzhevskaya AM, Astratenkova IV, Popov DV, Vinogradova OL, Rogozkin VA (2010) The ACTN3 R577X polymorphism in Russian endurance athletes. Br J Sports Med 44(9):649–652

    Article  CAS  PubMed  Google Scholar 

  • Alfred T, Ben-Shlomo Y, Cooper R, Hardy R, Cooper C, Deary IJ, Gunnell D, Harris SE, Kumari M, Martin RM, Moran CN, Pitsiladis YP, Ring SM, Sayer AA, Smith GD, Starr JM, Kuh D, Day IN (2011) ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies. Hum Mutat 32(9):1008–1018

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG (1981) Sequence and organization of the human mitochondrial genome. Nature 290(5806):457–465

    Article  CAS  PubMed  Google Scholar 

  • Arden NK, Spector TD (1997) Genetic influences on muscle strength, lean body mass, and bone mineral density: a twin study. J Bone Miner Res 12(12):2076–2081

    Article  CAS  PubMed  Google Scholar 

  • Bouchard C, Lesage R, Lortie G, Simoneau JA, Hamel P, Boulay MR, Perusse L, Theriault G, Leblanc C (1986) Aerobic performance in brothers, dizygotic and monozygotic twins. Med Sci Sports Exerc 18(6):639–646

    Article  CAS  PubMed  Google Scholar 

  • Bouchard C, Daw EW, Rice T, Perusse L, Gagnon J, Province MA, Leon AS, Rao DC, Skinner JS, Wilmore JH (1998) Familial resemblance for VO2max in the sedentary state: the HERITAGE family study. Med Sci Sports Exerc 30(2):252–258

    Article  CAS  PubMed  Google Scholar 

  • Bray MS, Hagberg JM, Perusse L, Rankinen T, Roth SM, Wolfarth B, Bouchard C (2009) The human gene map for performance and health-related fitness phenotypes: the 2006–2007 update. Med Sci Sports Exerc 41(1):35–73

    Article  PubMed  Google Scholar 

  • Brutsaert TD, Parra EJ (2006) What makes a champion? Explaining variation in human athletic performance. Respir Physiol Neurobiol 151(2–3):109–123

    Article  PubMed  Google Scholar 

  • Castro MG, Terrados N, Reguero JR, Alvarez V, Coto E (2007) Mitochondrial haplogroup T is negatively associated with the status of elite endurance athlete. Mitochondrion 7(5):354–357

    Article  CAS  PubMed  Google Scholar 

  • Chiu LL, Wu YF, Tang MT, Yu HC, Hsieh LL, Hsieh SS (2011) ACTN3 genotype and swimming performance in Taiwan. Int J Sports Med 32(6):476–480

    Article  CAS  PubMed  Google Scholar 

  • Danser AH, Schalekamp MA, Bax WA, van den Brink AM, Saxena PR, Riegger GA, Schunkert H (1995) Angiotensin-converting enzyme in the human heart. Effect of the deletion/insertion polymorphism. Circulation 92(6):1387–1388

    Article  CAS  PubMed  Google Scholar 

  • De Moor MH, Spector TD, Cherkas LF, Falchi M, Hottenga JJ, Boomsma DI, De Geus EJ (2007) Genome-wide linkage scan for athlete status in 700 British female DZ twin pairs. Twin Res Hum Genet 10(6):812–820

    Article  PubMed  Google Scholar 

  • Deason M, Scott R, Irwin L, Macaulay V, Fuku N, Tanaka M, Irving R, Charlton V, Morrison E, Austin K, Pitsiladis YP (2012) Importance of mitochondrial haplotypes and maternal lineage in sprint performance among individuals of West African ancestry. Scand J Med Sci Sports 22(2):217–223

    Article  CAS  PubMed  Google Scholar 

  • Druzhevskaya AM, Ahmetov II, Astratenkova IV, Rogozkin VA (2008) Association of the ACTN3 R577X polymorphism with power athlete status in Russians. Eur J Appl Physiol 103(6):631–634

    Article  CAS  PubMed  Google Scholar 

  • Elson JL, Turnbull DM, Howell N (2004) Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection. Am J Hum Genet 74(2):229–238

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Fuku N, Murakami H, Iemitsu M, Sanada K, Tanaka M, Miyachi M (2012) Mitochondrial macrohaplogroup associated with muscle power in healthy adults. Int J Sports Med 33(5):410–414

    Article  CAS  PubMed  Google Scholar 

  • Fuku N, Mikami E, Tanaka M (2013) Association of mitochondrial DNA polymorphisms and/or haplogroups with elite Japanese athlete status. J Phys Fit Sports Med 2(1):17–29

    Article  Google Scholar 

  • Hwang S, Kwak SH, Bhak J, Kang HS, Lee YR, Koo BK, Park KS, Lee HK, Cho YM (2011) Gene expression pattern in transmitochondrial cytoplasmic hybrid cells harboring type 2 diabetes-associated mitochondrial DNA haplogroups. PLoS One 6(7):e22116

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Kikuchi N, Ueda D, Min SK, Nakazato K, Igawa S (2013) The ACTN3 XX genotype’s underrepresentation in Japanese elite wrestlers. Int J Sports Physiol Perform 8(1):57–61

    PubMed  Google Scholar 

  • Kikuchi N, Nakazato K, Min SK, Ueda D, Igawa S (2014) The Actn3 R577x polymorphism is associated with muscle power in male Japanese athletes. J Strength Cond Res 28(7):1783–1789

    Article  PubMed  Google Scholar 

  • Kim CH, Cho JY, Jeon JY, Koh YG, Kim YM, Kim HJ, Park M, Um HS, Kim C (2010) ACE DD genotype is unfavorable to Korean short-term muscle power athletes. Int J Sports Med 31(1):65–71

    Article  CAS  PubMed  Google Scholar 

  • Kim KC, Cho HI, Kim W (2012) MtDNA haplogroups and elite Korean athlete status. Int J Sports Med 33(1):76–80

    Article  CAS  PubMed  Google Scholar 

  • Lesage R, Simoneau JA, Jobin J, Leblanc J, Bouchard C (1985) Familial resemblance in maximal heart rate, blood lactate and aerobic power. Hum Hered 35(3):182–189

    Article  CAS  PubMed  Google Scholar 

  • Lucia A, Gomez-Gallego F, Santiago C, Bandres F, Earnest C, Rabadan M, Alonso JM, Hoyos J, Cordova A, Villa G, Foster C (2006) ACTN3 genotype in professional endurance cyclists. Int J Sports Med 27(11):880–884

    Article  CAS  PubMed  Google Scholar 

  • MacArthur DG, Seto JT, Raftery JM, Quinlan KG, Huttley GA, Hook JW, Lemckert FA, Kee AJ, Edwards MR, Berman Y, Hardeman EC, Gunning PW, Easteal S, Yang N, North KN (2007) Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nat Genet 39(10):1261–1265

    Article  CAS  PubMed  Google Scholar 

  • MacArthur DG, Seto JT, Chan S, Quinlan KG, Raftery JM, Turner N, Nicholson MD, Kee AJ, Hardeman EC, Gunning PW, Cooney GJ, Head SI, Yang N, North KN (2008) An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance. Hum Mol Genet 17(8):1076–1086

    Article  CAS  PubMed  Google Scholar 

  • Marcuello A, Martinez-Redondo D, Dahmani Y, Casajus JA, Ruiz-Pesini E, Montoya J, Lopez-Perez MJ, Diez-Sanchez C (2009) Human mitochondrial variants influence on oxygen consumption. Mitochondrion 9(1):27–30

    Article  CAS  PubMed  Google Scholar 

  • Mikami E, Fuku N, Takahashi H, Ohiwa N, Scott R, Pitsiladis Y, Higuchi M, Kawahara T, Tanaka M (2011) Mitochondrial haplogroups associated with elite Japanese athlete status. Br J Sports Med 45(15):1179–1183

    Article  PubMed  Google Scholar 

  • Mikami E, Fuku N, Kong QP, Takahashi H, Ohiwa N, Murakami H, Miyachi M, Higuchi M, Tanaka M, Pitsiladis YP, Kawahara T (2013) Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes: a case–control study. J Hum Genet 58(12):780–787

    Article  CAS  PubMed  Google Scholar 

  • Mikami E, Fuku N, Murakami H, Tsuchie H, Takahashi H, Ohiwa N, Tanaka H, Pitsiladis YP, Higuchi M, Miyachi M, Kawahara T, Tanaka M (2014) ACTN3 R577X genotype is associated with sprinting in Elite Japanese athletes. Int J Sports Med 35(2):172–177

    CAS  PubMed  Google Scholar 

  • Mishmar D, Ruiz-Pesini E, Golik P, Macaulay V, Clark AG, Hosseini S, Brandon M, Easley K, Chen E, Brown MD, Sukernik RI, Olckers A, Wallace DC (2003) Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci U S A 100(1):171–176

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Montgomery HE, Marshall R, Hemingway H, Myerson S, Clarkson P, Dollery C, Hayward M, Holliman DE, Jubb M, World M, Thomas EL, Brynes AE, Saeed N, Barnard M, Bell JD, Prasad K, Rayson M, Talmud PJ, Humphries SE (1998) Human gene for physical performance. Nature 393(6682):221–222

    Article  CAS  PubMed  Google Scholar 

  • Mustelin L, Latvala A, Pietilainen KH, Piirila P, Sovijarvi AR, Kujala UM, Rissanen A, Kaprio J (2011) Associations between sports participation, cardiorespiratory fitness, and adiposity in young adult twins. J Appl Physiol 110(3):681–686

    Article  CAS  PubMed  Google Scholar 

  • Niemi AK, Majamaa K (2005) Mitochondrial DNA and ACTN3 genotypes in finnish elite endurance and sprint athletes. Eur J Hum Genet 13(8):965–969

    Article  CAS  PubMed  Google Scholar 

  • North KN, Beggs AH (1996) Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy. Neuromuscul Disord 6(4):229–235

    Article  CAS  PubMed  Google Scholar 

  • Okura T, Koda M, Ando F, Niino N, Tanaka M, Shimokata H (2003) Association of the mitochondrial DNA 15497G/A polymorphism with obesity in a middle-aged and elderly Japanese population. Hum Genet 113(5):432–436

    Article  CAS  PubMed  Google Scholar 

  • Papadimitriou ID, Papadopoulos C, Kouvatsi A, Triantaphyllidis C (2008) The ACTN3 gene in elite Greek track and field athletes. Int J Sports Med 29(4):352–355

    Article  CAS  PubMed  Google Scholar 

  • Perusse L, Rankinen T, Hagberg JM, Loos RJ, Roth SM, Sarzynski MA, Wolfarth B, Bouchard C (2013) Advances in exercise, fitness, and performance genomics in 2012. Med Sci Sports Exerc 45(5):824–831

    Article  PubMed Central  PubMed  Google Scholar 

  • Rigat B, Hubert C, Alhenc-Gelas F, Cambien F, Corvol P, Soubrier F (1990) An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J Clin Invest 86(4):1343–1346

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Roth SM, Walsh S, Liu D, Metter EJ, Ferrucci L, Hurley BF (2008) The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes. Eur J Hum Genet 16(3):391–394

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Ruiz-Pesini E, Wallace DC (2006) Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA. Hum Mutat 27(11):1072–1081

    Article  CAS  PubMed  Google Scholar 

  • Ruiz-Pesini E, Mishmar D, Brandon M, Procaccio V, Wallace DC (2004) Effects of purifying and adaptive selection on regional variation in human mtDNA. Science 303(5655):223–226

    Article  CAS  PubMed  Google Scholar 

  • Santiago C, Rodriguez-Romo G, Gomez-Gallego F, Gonzalez-Freire M, Yvert T, Verde Z, Naclerio F, Altmae S, Esteve-Lanao J, Ruiz JR, Lucia A (2010) Is there an association between ACTN3 R577X polymorphism and muscle power phenotypes in young, non-athletic adults? Scand J Med Sci Sports 20(5):771–778

    Article  CAS  PubMed  Google Scholar 

  • Scott RA, Wilson RH, Goodwin WH, Moran CN, Georgiades E, Wolde B, Pitsiladis YP (2005) Mitochondrial DNA lineages of elite Ethiopian athletes. Comp Biochem Physiol B Biochem Mol Biol 140(3):497–503

    Article  PubMed  Google Scholar 

  • Scott RA, Fuku N, Onywera VO, Boit M, Wilson RH, Tanaka M, W HG, Pitsiladis YP (2009) Mitochondrial haplogroups associated with elite Kenyan athlete status. Med Sci Sports Exerc 41(1):123–128

    Article  PubMed  Google Scholar 

  • Shang X, Zhang F, Zhang L, Huang C (2012) ACTN3 R577X polymorphism and performance phenotypes in young Chinese male soldiers. J Sports Sci 30(3):255–260

    Article  PubMed  Google Scholar 

  • Silventoinen K, Magnusson PK, Tynelius P, Kaprio J, Rasmussen F (2008) Heritability of body size and muscle strength in young adulthood: a study of one million Swedish men. Genet Epidemiol 32(4):341–349

    Article  PubMed  Google Scholar 

  • Tanaka M, Cabrera VM, Gonzalez AM, Larruga JM, Takeyasu T, Fuku N, Guo LJ, Hirose R, Fujita Y, Kurata M, Shinoda K, Umetsu K, Yamada Y, Oshida Y, Sato Y, Hattori N, Mizuno Y, Arai Y, Hirose N, Ohta S, Ogawa O, Tanaka Y, Kawamori R, Shamoto-Nagai M, Maruyama W, Shimokata H, Suzuki R, Shimodaira H (2004) Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res 14(10A):1832–1850

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Tiainen K, Sipila S, Alen M, Heikkinen E, Kaprio J, Koskenvuo M, Tolvanen A, Pajala S, Rantanen T (2005) Shared genetic and environmental effects on strength and power in older female twins. Med Sci Sports Exerc 37(1):72–78

    Article  PubMed  Google Scholar 

  • Tobina T, Michishita R, Yamasawa F, Zhang B, Sasaki H, Tanaka H, Saku K, Kiyonaga A (2010) Association between the angiotensin I-converting enzyme gene insertion/deletion polymorphism and endurance running speed in Japanese runners. J Physiol Sci 60(5):325–330

    Article  CAS  PubMed  Google Scholar 

  • Torroni A, Richards M, Macaulay V, Forster P, Villems R, Norby S, Savontaus ML, Huoponen K, Scozzari R, Bandelt HJ (2000) mtDNA haplogroups and frequency patterns in Europe. Am J Hum Genet 66(3):1173–1177

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Tucker R, Collins M (2012) What makes champions? A review of the relative contribution of genes and training to sporting success. Br J Sports Med 46(8):555–561

    Article  PubMed  Google Scholar 

  • Vincent B, De Bock K, Ramaekers M, Van den Eede E, Van Leemputte M, Hespel P, Thomis MA (2007) ACTN3 (R577X) genotype is associated with fiber type distribution. Physiol Genomics 32(1):58–63

    Article  CAS  PubMed  Google Scholar 

  • Wallace DC (2005) A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Annu Rev Genet 39:359–407

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Wang G, Mikami E, Chiu LL, Perini ADE, Deason M, Fuku N, Miyachi M, Kaneoka K, Murakami H, Tanaka M, Hsieh LL, Hsieh SS, Caporossi D, Pigozzi F, Hilley A, Lee R, Galloway SD, Gulbin J, Rogozkin VA, Ahmetov II, Yang N, North KN, Ploutarhos S, Montgomery HE, Bailey ME, Pitsiladis YP (2013) Association analysis of ACE and ACTN3 in elite Caucasian and East Asian swimmers. Med Sci Sports Exerc 45(5):892–900

    Article  CAS  PubMed  Google Scholar 

  • Woods DR, Hickman M, Jamshidi Y, Brull D, Vassiliou V (2001) Elite swimmers and D allele of the ACE I/D polymorphism. Hum Genet 108(3):230–232

    Article  CAS  PubMed  Google Scholar 

  • Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K (2003) ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet 73(3):627–631

    Article  CAS  PubMed Central  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Noriyuki Fuku .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer Japan

About this chapter

Cite this chapter

Miyamoto-Mikami, E., Fuku, N., Tanaka, M. (2015). Genetic Polymorphisms Associated with Elite Athlete Status. In: Kanosue, K., Nagami, T., Tsuchiya, J. (eds) Sports Performance. Springer, Tokyo. https://doi.org/10.1007/978-4-431-55315-1_10

Download citation

  • DOI: https://doi.org/10.1007/978-4-431-55315-1_10

  • Publisher Name: Springer, Tokyo

  • Print ISBN: 978-4-431-55314-4

  • Online ISBN: 978-4-431-55315-1

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics