Abstract
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%; P < 0.0001) and X allele (33.3 vs. 38.7%; P = 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.
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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 41:1599–1604
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 99:154–163
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):206–212
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 41:616–617
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
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):1335–1346
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):88–93
Niemi AK, Majamaa K (2005) Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. Eur J Hum Genet 13:965–969
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 21:353–354
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
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):391–394
Santiago C, González-Freire M, Serratosa L et al (2008) ACTN3 genotype in professional soccer players. Br J Sports Med 42(1):71–73
Squire JM (1997) Architecture and function in the muscle sarcomere. Curr Opin Struct Biol 7:247–257
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):77–78
Vincent B, De Bock K, Ramaekers M et al (2007) ACTN3 (R577X) genotype is associated with fiber type distribution. Physiol Genomics 32(1):58–63
Wittke-Thompson JK, Pluzhnikov A, Cox NJ (2005) Rationale inferences about departures from Hardy–Weinberg equilibrium. Am J Hum Genet 76:967–986
Yang N, MacArthur DG, Gulbin JP et al (2003) ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet 73:627–631
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Druzhevskaya, A.M., Ahmetov, I.I., Astratenkova, I.V. et al. Association of the ACTN3 R577X polymorphism with power athlete status in Russians. Eur J Appl Physiol 103, 631–634 (2008). https://doi.org/10.1007/s00421-008-0763-1
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DOI: https://doi.org/10.1007/s00421-008-0763-1