The ACTN3 Gene in Elite Greek Track and Field Athletes

Abstract

The study of genetic influence in the making of an Olympic champion is still in its nascence, but recent work has provided findings regarding the association of the ACTN3 gene on athletic performance. The aim of this study was to examine genetic differences among elite Greek track and field athletes by analysing a mononucleotide polymorphism in exon 15 of the ACTN3 gene. Results showed that ACTN3 genotype and allele frequencies in the top power-oriented athletes were statistically significantly different from those in a representative random sample of the Greek population: the frequency of the RR ACTN3 genotype in power-oriented athletes vs. the general population was 47.94 % vs. 25.97 %. This result was even more prominent for comparison of the subgroup of sprinters to controls. The results suggest an overall strong association between the presence of the RR genotype and elite power performance.

Key words

gene - champions - Greece - alpha‐actinin‐3

References

• 1 Clarkson P M, Devaney J M, Gordish-Dressman H, Thompson P D, Hubal M J, Urso M, Price T B, Angelopoulos T J, Gordon P M, Moyna N M, Pescatello L S, Visich P S, Zoeller R F, Seip R L, Hoffman E P. ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women.  J Appl Physiol. 2005;  99 154-163
• 2 Lucia A, Gómez-Gallego F, Santiago C, Bandrés F, Earnest G, Rabadán P, Alonso J M, Hoyos J, Córdova A, Villa G, Foster C. ACTN3 genotype in professional endurance cyclists.  Int J Sports Med. 2006;  27 880-884
• 3 MacArthur D G, North K N. A gene for speed? The evolution and function of α-actinin-3.  BioEssays. 2004;  26 786-795
• 4 Maniatis T, Fritch E F, Sumbrook J. Molecular Cloning: A Laboratory Manual. 2nd edn. Cold Spring Harbor, USA; Laboratory Press 1989
• 5 Mills M, Yang N, Weinberger R, Vander Woude D L, Beggs A H, Easteal S, North K. Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy.  Hum Mol Genet. 2001;  10 1335-1346
• 6 Niemi A K, Majamaa K. Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes.  Eur J Hum Genet. 2005;  13 965-969
• 7 Rankinen T, Perusse L, Rauramaa R, Rivera M A, Wolfarth B, Bouchard C. The human gene map for performance and health-related fitness phenotypes: the 2003 update.  Med Sci Sports Exerc. 2004;  36 1451-1469
• 8 Raymond M, Rousset F. GENEPOP (V1.2): population genetics software for exact tests and ecumenicism.  J Heredity. 1995;  86 248-249
• 9 Roth S M, Delmonico M J, Rabon-Stith K M, Walsh S, Hurley B F. The ACTN3 gene R577X polymorphism is associated with muscle power response to strength training.  Med Sci Sports Exerc. 2005;  37 (Suppl) S472
• 10 Rushall B S, Pyke F S. Training for Sports and Fitness. Melbourne; Macmillan 1990
• 11 Van Damme R, Wilson R S, Vanhooydonck B, Aerts P. Performance constraints in decathletes.  Nature. 2002;  415 755-756
• 12 Yang N, MacArthur D G, Gulbin J P, Hahn A G, Beggs A H, Easteal S, North K. ACTN3 genotype is associated with human elite athletic performance.  Am J Hum Genet. 2003;  73 627-631
• 13 Yang N, MacArthur D, Wolde B, Onywera V O, Boit M K, Wilson R H, Scott R A, Pitsiladis Y P, North K. ACTN3 genotype is not associated with elite endurance athlete status in Ethiopians and Kenyans.  Med Sci Sports Exerc. 2005;  37 (Suppl) S472