European Journal of Applied Physiology

, Volume 103, Issue 6, pp 631–634 | Cite as

Association of the ACTN3 R577X polymorphism with power athlete status in Russians

  • Anastasiya M. DruzhevskayaEmail author
  • Ildus I. Ahmetov
  • Irina V. Astratenkova
  • Viktor A. Rogozkin
Original Article


The α-actinin-3 (ACTN3) gene encodes a Z-disc structural protein which is found only in fast glycolytic muscle fibers. A common nonsense polymorphism in codon 577 of the ACTN3 gene (R577X) results in α-actinin-3 deficiency in XX homozygotes. Previous reports have shown a lower proportion of the ACTN3 XX genotype in power-oriented athletes compared to the general population. In the present study we tested whether XX genotype was under-represented in Russian power-oriented athletes. The study involved 486 Russian power-oriented athletes of regional or national competitive standard. ACTN3 genotype and allele frequencies were compared to 1,197 controls. The frequencies of the ACTN3 XX genotype (6.4 vs. 14.2%; < 0.0001) and X allele (33.3 vs. 38.7%; = 0.004) were significantly lower in power-oriented athletes compared to controls. Furthermore, the lowest (3.4%) frequency of the ACTN3 XX genotype was found in a group of highly elite athletes, supporting the hypothesis that the presence of α-actinin-3 has a beneficial effect on the function of skeletal muscle in generating forceful contractions at high velocity. In conclusion, ACTN3 R577X polymorphism was associated with power athlete status in Russians.


α-actinin-3 Genotype Fast-twitch fibers Power performance 


  1. Bolla MK, Haddad L, Humphries SE et al (1995) A method of determination of hundreds of APOE genotypes utilizing highly simplified, optimized protocols and restriction digestion analysis by microtitre array diagonal gel electrophoresis (MADGE). Clin Chem 41:1599–1604PubMedGoogle Scholar
  2. Clarkson PM, Devaney JM, Gordish-Dressman H et al (2005) ACTN3 genotype is associated with increases in muscle strength and response to resistance training in women. J Appl Physiol 99:154–163PubMedCrossRefGoogle Scholar
  3. Delmonico MJ, Kostek MC, Doldo NA et al (2007) Alpha-actinin-3 (ACTN3) R577X polymorphism influences knee extensor peak power response to strength training in older men and women. J Gerontol A Biol Sci Med Sci 62(2):206–212PubMedGoogle Scholar
  4. Lucia A, Olivan J, Gomez-Gallego F et al (2007) Citius and longius (faster and longer) with no alpha-actinin-3 in skeletal muscles? Br J Sports Med 41:616–617PubMedCrossRefGoogle Scholar
  5. MacArthur DG, Seto JT, Chan S et al (2008) An Actn3 knockout mouse provides mechanistic insights into the association between α-actinin-3 deficiency and human athletic performance. Hum Mol Genet. doi: 10.1093/hmg/ddm380
  6. Mills M, Yang N, Weinberger R et al (2001) Differential expression of the actin-binding proteins, α-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. Hum Mol Genet 10(13):1335–1346PubMedCrossRefGoogle Scholar
  7. Moran CN, Yang N, Bailey ME et al (2007) Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. Eur J Hum Genet 15(1):88–93PubMedCrossRefGoogle Scholar
  8. Niemi AK, Majamaa K (2005) Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. Eur J Hum Genet 13:965–969PubMedCrossRefGoogle Scholar
  9. North KN, Yang N, Wattanasirichaigoon D et al (1999) A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. Nat Genet 21:353–354PubMedCrossRefGoogle Scholar
  10. Papadimitriou ID, Papadopoulos C, Kouvatsi A, Triantaphyllidis C (2007) The ACTN3 gene in elite Greek track and field athletes. Int J Sports Med. doi: 10.1055/s-2007-965339
  11. Roth SM, Walsh S, Liu D et al (2008) The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes. Eur J Hum Genet 16(3):391–394PubMedCrossRefGoogle Scholar
  12. Santiago C, González-Freire M, Serratosa L et al (2008) ACTN3 genotype in professional soccer players. Br J Sports Med 42(1):71–73PubMedCrossRefGoogle Scholar
  13. Squire JM (1997) Architecture and function in the muscle sarcomere. Curr Opin Struct Biol 7:247–257PubMedCrossRefGoogle Scholar
  14. Suminaga R, Matsuo M, Takeshima Y et al (2000) Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy. Am J Med Genet 92(1):77–78PubMedCrossRefGoogle Scholar
  15. Vincent B, De Bock K, Ramaekers M et al (2007) ACTN3 (R577X) genotype is associated with fiber type distribution. Physiol Genomics 32(1):58–63PubMedCrossRefGoogle Scholar
  16. Wittke-Thompson JK, Pluzhnikov A, Cox NJ (2005) Rationale inferences about departures from Hardy–Weinberg equilibrium. Am J Hum Genet 76:967–986PubMedCrossRefGoogle Scholar
  17. Yang N, MacArthur DG, Gulbin JP et al (2003) ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet 73:627–631PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Anastasiya M. Druzhevskaya
    • 1
    Email author
  • Ildus I. Ahmetov
    • 1
  • Irina V. Astratenkova
    • 1
  • Viktor A. Rogozkin
    • 1
  1. 1.Sports Genetics LaboratorySt Petersburg Research Institute of Physical CultureSt PetersburgRussia

Personalised recommendations