Association of the ACTN3 R577X polymorphism in Polish rowers

• Autorzy: Jastrzebski Z. , Leonska-Duniec A. , Kolbowicz M. , Tomiak T.
• Języki publikacji: EN

Abstrakty

EN

Background: The ACTN3 R577X polymorphism has been associated with an elite athlete status. Several studies have determined that the R allele is connected with power-oriented athletic performance, whereas the nonfunctional XX genotype may give some beneficial effect for endurance performance. The main aim of the study was to determine the possible interaction between the ACTN3 R577X polymorphism and an endurance athlete status in a group of Polish rowers in comparison with sedentary individuals. Material/Methods: 121 male Polish rowers, members of academic sports clubs, and 115 unrelated volunteers were recruited for the study. Genotyping for the R577X variant was performed by PCR–RFLP. Results: The genotype distribution amongst the rowers (52.06% RR, 38.85% RX, 9.09% XX) was significantly different from that amongst sedentary individuals (RR-33.5%; RX- 49.60%; XX-17,35%; P = 0.024). A significant excess of the R allele was noted in the rowers (71.48%, P = 0.008) when comparing with the controls (60.0%). Conclusions: The obtained results show that the ACTN3 X allele and XX genotype are underrepresented in Polish rowers and they are not advantageous for the endurance-type athletes in the studied population. On the contrary, the R allele seems to be useful for a top-level rower. However, additional studies are needed to clarify this problem.

Słowa kluczowe

EN

gene polymorphism; Poland; rower; athlete; genotype

• Wydawca: -
• Czasopismo: Baltic Journal of Health and Physical Activity. The Journal of Gdansk University of Physical Education and Sport
• Rocznik: 2014
• Tom: 06
• Numer: 3
• Opis fizyczny: p.205-210,fig.,ref.

Twórcy

autor

Jastrzebski Z.

• Faculty of Tourism and Recreation, Gdansk University of Physical Education and Sport in Gdansk, 1 Kazimierza Gorskiego St., 80-336 Gdansk, Poland

autor

Leonska-Duniec A.

• Faculty of Tourism and Recreation, Gdansk University of Physical Education and Sport in Gdansk, 1 Kazimierza Gorskiego St., 80-336 Gdansk, Poland
• Faculty of Physical Culture and Health Promotion, University of Szczecin, Szczecin, Poland

autor

Kolbowicz M.

• Faculty of Physical Culture and Health Promotion, University of Szczecin, Szczecin, Poland

autor

Tomiak T.

• Faculty of Physical Education, Gdansk University of Physical Education and Sport in Gdansk, Gdansk, Poland

Bibliografia

• 1.Bray MS, Hagberg JM, Pérusse L, et al. The human gene map for performance and health-related fitness phenotypes: The 2006-2007 update. Med Sci Sports Exerc. 2009;41(1):35-73.
• 2. Eynon N, Ruiz JR, Oliveira J, Duarte JA, Birk R, Lucia A. Genes and elite athletes: a roadmap for future research. J Physiol. 2011;589(13):3063-3070.
• 3. Ahmetov II, Fedotovskaya ON. Sports genomics: Current state of knowledge and future dirctions. Cell Mol Exerc Physiol. 2012;1(1):1-25.
• 4. Mills M, Yang N, Weinberger R, Vander Woude DL, et al. Differential expression of the actin-binding proteins, alphaactinin -2 and -3, in different species: implications for the evolution of functional redundancy. Hum Mol Genet. 2001;10:1335-1346.
• 5. Clarkson PM, Devaney JM, Gordish-Dressman H, et al. ACTN3 genotype is associated with increases in muscle strength and response to resistance training in women. J Appl Physiol. 2005;99:154-163.
• 6. Beggs AH, Byers TJ, Knoll JH, Boyce FM, Bruns GA, Kunkel LM. Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. J Biol Chem. 1992;267:9281-9288.
• 7. Blanchard A, Ohanian V, Critchley D. The structure and function of alpha-actinin. J Muscle Res Cell Motil. 1989;10:280-289.
• 8. MacArthur DG, North KN. A gene for speed? The evaluation and function of α-actinin-3. Bio Essays. 2004;26:786-795.
• 9. North KN, Yang N, Wattanasirichaigoon D, Mills M, Easteal S, Beggs AH. A common nonsense mutation results in alpha-actinin-3 efficiency in the general population. Nat Genet. 1999;21:353-354.
• 10. Ahmetov II, Druzhevskaya AM, Astratenkova IV, Popov DV, Vinogradova OL, Rogozkin VA. The ACTN3 R577X polymorphism in Russian endurance athletes. Br J Sports Med. 2010;44(9):649-52.
• 11. Cieszczyk P, Eider J, Ostanek M, Arczewska A, Leonska-Duniec A, Sawczyn S, et al. Association of the ACTN3 R577X polymorphism in Polish power-orientated athletes. J Hum Kinet. 2011;28:5-13.
• 12. Niemi AK, Majamaa K. Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. Eur J Hum Genet. 2005;13:965-969.
• 13. Roth SM, Walsh S, Liu D, Metter EJ, Ferrucci L, Hurley BF. The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes. Eur J Hum Genet. 2008;16:391-394.
• 14. Delmonico MJ, Kostek MC, Doldo NA, Hand BD, Walsh S, Conway JM, et al. 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. 2007;62(2):206-212.
• 15. Vincent B, De Bock K, Ramaekers M, Van den Eede E, Van Leemputte M, Hespel PJ, et al. ACTN3 (R577X) genotype is associated with fiber type distribution. Physiol Genomics. 2007;32(1):58-63.
• 16. Eynon N, Duarte JA, Oliveira J, Sagiv M, Yamin C, Meckel Y, et al. ACTN3 R577X polymorphism and Israeli top-level athletes. Int J Sports Med. 2009;30(9):695-698.
• 17. 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;73:627-631.
• 18. MacArthur DG, Seto JT, Chan S, Quinlan KR, Raftery JM, Turner N, et al. An Actn3 knockout mouse provides mechanistic insights into the association between α-actinin-3 deficiency and human athletic performance. Hum Mol Genet. 2008;17:1076-1086.
• 19. Yang N, MacArthur D, Wolde B, Onywera VO, Boit MK, Wilson RH, et al. ACTN3 genotype is not associated with elite endurance athlete status in Ethiopians and Kenyans. Med Sci Sports Exerc. 2005;37(5):472.
• 20. Lucia A, Gomez-Gallego F, Santiago C. ACTN3 genotype in professional endurance cyclists. Int J Sports Med. 2006;27:880-884.
• 21. Paparini A, Ripani M, Giordano GD, Santoni D, Pigozzi F, Romano-Spica V. ACTN3 genotyping by real-time PCR in the Italian population and athletes. Med Sci Sports Exerc. 2007;39:810-815.
• 22. Saunders CJ, September AV, Xenophontos SL, Cariolou MA, Anastassiades LC, Noakes TD, Collins M. No association of the ACTN3 gene R577X polymorphism with endurance performance in Ironman Triathlons. Ann Hum Genet. 2007;71:777-781.
• 23. Cieszczyk P, Sawczuk M, Maciejewska A, Ficek K. The ACTN3 R577X polymorphism in top-level Polish rowers. J Exerc Sci Fit. 2012;10:12-15.
• 24. Kruk J. Good scientific practice and ethical principles in scientific research and higher education. Cent Eur J Sports Sci Med. 2013;1:25-29.
• 25. Kruk J. Good scientific practice and ethical principles in scientific research and higher education. Centr Eur J Sport Sci Med. 2013; 1: 25–29.
• 26. Jascaniene N, Nowak R, Kostrzewa-Nowak D, Buryta R. Selected aspects of statistical analyses in sport with the use of STATISTICA software. Centr Eur J Sport Sci Med. 2013; 3: 3–11.
• 27. Druzhevskaya AM, Ahmetov II, Astratenkova IV, Rogozkin VA. Association of the ACTN3 R577X polymorphism with power athlete status in Russians. Eur J Appl Physiol. 2008;103:631-634.
• 28. Norman B, Esbjornsson M, Rundqvist H, Osterlund T, von Walden F, Tesch PA. Strength, power, fiber types and mRNA expression in trained men and women with different ACTN3 R577X genotypes. J Appl Physiol. 2009;106:959-965.
• 29. Chan S, Seto JT, MacArthur DG, Yang N, North KN, Head SI. A gene for speed: contractile properties of isolated whole EDL muscle from an alpha-actinin-3 knockout mouse. Am J Physiol. 2008;295:897-904.
• 30. Ahmetov II, Popov DV, Astratenkova IV, Druzhevskaia AM, Missina SS, Vinogradova OL, et al. The use of molecular genetic methods for prognosis of aerobic and anaerobic performance in athletes. Hum Physiol. 2008;34:338-342.
• 31. Secher NH. Physiological and biomechanical aspects of rowing. Implications for training. Sports Med. 1993;15:24-42

Identyfikatory

DOI

10.2478/bjha-2014-0019