Association between the ACTN3 R577X polymorphism and female endurance athletes in China

International Journal of Sports Medicine

Volumn 31, Issue 12, 2010, Pages 913-916

  Shang, X ^a   Huang, C ^b   Chang, Q ^b   Zhang, L ^b   Huang, T ^b  

^a FOURTH MILITARY MEDICAL UNIVERSITY   (China)

^b The 150th Central Hospital of People's Liberation Army   (China)

Author keywords

actinin 3; Chinese; endurance performance; genotype

Indexed keywords

ACTININ; ACTN3 PROTEIN, HUMAN;

ADULT; ARTICLE; ASIAN; ATHLETE; ATHLETIC PERFORMANCE; CHINA; ENDURANCE; FAST MUSCLE FIBER; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETICS; GENOTYPE; HUMAN; MALE; METABOLISM; PHYSIOLOGY; SEX DIFFERENCE;

ACTININ; ASIAN CONTINENTAL ANCESTRY GROUP; ATHLETES; ATHLETIC PERFORMANCE; CHINA; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; MALE; MUSCLE FIBERS, FAST-TWITCH; PHYSICAL ENDURANCE; POLYMORPHISM, GENETIC; SEX FACTORS; YOUNG ADULT;

EID: 78650517727     PISSN: 01724622     EISSN: 14393964     Source Type: Journal    
DOI: 10.1055/s-0030-1265176     Document Type: Article

References (27)

1. 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 44 649-652
2. 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 C897-C904
3. Chowrashi P, Mittal B, Sanger JM, Sanger JW. Amorphin is phosphorylase; phosphorylase is an alpha-actinin-binding protein. Cell Motil Cytoskel 2002 53 125-135
4. Clarkson PM, Devaney JM, Gordish-Dressman H, Thompson PD, Hubal MJ, Urso M, Price TB, Angelopoulos TJ, Gordon PM, Moyna NM, Pescatello LS, Visich PS, Zoeller RF, Seip RL, Hoffman EP. ACTN3 genotype is associated with increases in muscle strength and response to resistance training in women. J Appl Physiol 2005 99 154-163
5. Delmonico MJ, Kostek MC, Doldo NA, Hand BD, Walsh S, Conway JM, Carignan CR, Roth SM, Hurley BF. 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 62 206-212
6. Eynon N, Duarte JA, Oliveira J, Sagiv M, Yamin C, Meckel Y, Sagiv M, Goldhammer E. ACTN3 R577X polymorphism and Israeli top-level athletes. Int J Sports Med 2009 30 695-698
7. Harriss DJ, Atkinson G. International Journal of Sports Medicine - Ethical Standards in Sport and Exercise Science Research. Int J Sports Med 2009 30 701-702
8. Lucia A, Gómez-Gallego F, Santiago C, Bandrés F, Earnest C, Rabadán M, Alonso JM, Hoyos J, Córdova A, Villa G, Foster C. ACTN3 genotype in professional endurance cyclists. Int J Sports Med 2006 27 880-884
9. MacArthur DG, North KN. A gene for speed? The evolution and function of alpha-actinin-3. Bioassays 2004 26 786-795
10. 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. Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nat Genet 2007 39 1261-1265
11. 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. An Actn3 knockout mouse provides mechanistic insights into the association between -actinin-3 deficiency and human athletic performance. Hum Mol Genet 2008 17 1076-1086
12. Mills M, Yang N, Weinberger R, Vander Woude DL, Beggs AH, 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. Human Mol Genet 2001 10 1335-1346
13. Moran CN, Yang N, Bailey ME, Tsiokanos A, Jamurtas A, MacArthur DG, North K, Pitsiladis YP, Wilson RH. Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. Eur J Hum Genet 2007 15 88-93
14. Niemi AK, Majamaa K. Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. Eur J Hum Genet 2005 13 965-969
15. North KN, Beggs AH. Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy. Neuromusc Disord 1996 6 229-235
16. North KN, Yang N, Wattanasirichaigoon D, Mills M, Easteal S, Beggs AH. A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. Nat Genet 1999 21 353-354
17. Papadimitriou ID, Papadopoulos C, Kouvatsi A, Triantaphyllidis C. The ACTN3 gene in elite Greek track and field athletes. Int J Sports Med 2008 29 352-355
18. Rakus D, Mamczur P, Gizak A, Dus D, Dzugaj A. Colocalization of muscle FBPase and muscle aldolase on both sides of the Z-line. Biochem Biophys Res Commun 2003 311 294-299
19. 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
20. Santiago C, González-Freire M, Serratosa L, Morate FJ, Meyer T, Gómez-Gallego F, Lucia A. ACTN3 genotype in professional soccer players. Br J Sports Med 2008 42 71-73
21. 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
22. Squire JM. Architecture and function in the muscle sarcomere. Curr Opin Struct Biol 1997 7 247-257
23. Vainzof M, Costa CS, Marie SK, Moreira ES, Reed U, Passos-Bueno MR, Beggs AH, Zatz M. Deficiency of alpha-actinin-3 (ACTN3) occurs in different forms of muscular dystrophy. Neuropediatrics 1997 28 223-228
24. Vincent B, De Bock K, Ramaekers M, Van den Eede E, Van Leemputte M, Hespel P, Thomis MA. ACTN3 (R577X) genotype is associated with fiber type distribution. Physiol Genomics 2007 32 58-63
25. Wittke-Thompson JK, Pluzhnikov A, Cox NJ. Rationale inferences about departures from Hardy-Weinberg equilibrium. Am J Hum Genet 2005 76 967-986
26. Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K. ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet 2003 73 627-631
27. Yang N, MacArthur DG, Wolde B, Onywera VO, Boit MK, Lau SY, Wilson RH, Scott RA, Pitsiladis YP, North K. The ACTN3 R577X polymorphism in East and West African athletes. Med Sci Sport Exerc 2007 39 1985-1988