ACTN3 R577X Genotype is Associated with Sprinting in Elite Japanese Athletes

E. Mikami; N. Fuku; H. Murakami; H. Tsuchie; H. Takahashi; N. Ohiwa; H. Tanaka; Y. P. Pitsiladis; M. Higuchi; M. Miyachi; T. Kawahara; M. Tanaka

doi:10.1055/s-0033-1347171

International Journal of Sports Medicine, Table of Contents

Int J Sports Med 2014; 35(02): 172-177
DOI: 10.1055/s-0033-1347171

Genetics & Molecular Biology

ACTN3 R577X Genotype is Associated with Sprinting in Elite Japanese Athletes

E. Mikami

¹Graduate School of Sport Sciences, Waseda University, Tokorozawa-city, Japan

,

N. Fuku

²Department of Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan

,

H. Murakami

³Department of Health Promotion and Exercise Program, National Institute of Health and Nutrition, Tokyo, Japan

,

H. Tsuchie

⁴Faculty of Business Administration, Josai University, Saitama, Japan

,

H. Takahashi

⁵Department of Sports Science, Japan Institute of Sports Sciences, Tokyo, Japan

,

N. Ohiwa

⁵Department of Sports Science, Japan Institute of Sports Sciences, Tokyo, Japan

,

H. Tanaka

⁶Faculty of Sport and Health Science, Fukuoka University, Fukuoka, Japan

,

Y. P. Pitsiladis

⁷Institute of Cardiovascular and Medical Sciences, University of Glasgow, United Kingdom

,

M. Higuchi

⁸Faculty of Sport Sciences, Waseda University, Saitama, Japan

,

M. Miyachi

³Department of Health Promotion and Exercise Program, National Institute of Health and Nutrition, Tokyo, Japan

,

T. Kawahara

⁹Department of Sports Medicine, Japan Institute of Sports Sciences, Tokyo, Japan

,

M. Tanaka

²Department of Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan

› Author Affiliations

Abstract

The ACTN3 R577X genotype has been found to associate with sprint/power phenotypes in all elite athlete cohorts investigated. This association has not been extensively studied in elite Asian athletes. The present study was undertaken to investigate the association between the ACTN3 R577X genotype and elite Japanese track and field athlete status. 299 elite Japanese track and field athletes (134 sprint/power athletes; 165 endurance/middle-power athletes) and 649 Japanese controls were genotyped for the ACTN3 R577X polymorphism. All athletes were of national or international level. Sprint/power athletes showed a higher frequency of RR+RX genotype than controls (111/134 [82.8%] vs. 478/649 [73.7%], P=0.025 under the R-dominant model), while there was no significant difference between endurance/middle-power athletes and controls (126/165 [76.4%] vs. 478/649 [73.7%], P=0.48 under the R-dominant model). Sprinters with the RR+RX genotype had significantly faster personal best times for the 100 m than those with XX genotype (10.42±0.05 s vs. 10.64±0.09 s, P=0.042); no such association was found in the 400 m sprinters (47.02±0.36 s vs. 47.56±0.99 s, P=0.62). ACTN3 R577X genotype is associated with sprint/power performance in elite Japanese track and field athletes, especially short sprint performance.

Key words

α-actinin-3 - polymorphism - sprint performance - track and field athlete

Full Text

References

References
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 Alfred T, Ben-Shlomo Y, Cooper R, Hardy R, Cooper C, Deary IJ, Gunnell D, Harris SE, Kumari M, Martin RM, Moran CN, Pitsiladis YP, Ring SM, Sayer AA, Smith GD, Starr JM, Kuh D, Day IN. ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies. Hum Mutat [in press]
3 Bouchard C, Sarzynski MA, Rice TK, Kraus WE, Church TS, Sung YJ, Rao DC, Rankinen T. Genomic predictors of the maximal O(2) uptake response to standardized exercise training programs. J Appl Physiol 2011; 110: 1160-1170
4 Bray MS, Hagberg JM, Perusse L, Rankinen T, Roth SM, Wolfarth B, Bouchard C. The human gene map for performance and health-related fitness phenotypes: the 2006-2007 update. Med Sci Sports Exerc 2009; 41: 35-73
5 Chiu LL, Wu YF, Tang MT, Yu HC, Hsieh LL, Hsieh SS. ACTN3 genotype and swimming performance in Taiwan. Int J Sports Med 2011; 32: 476-480
6 Doring FE, Onur S, Geisen U, Boulay MR, Perusse L, Rankinen T, Rauramaa R, Wolfahrt B, Bouchard C. ACTN3 R577X and other polymorphisms are not associated with elite endurance athlete status in the Genathlete study. J Sports Sci 2010; 28: 1355-1359
7 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
8 Eynon N, Duarte JA, Oliveira J, Sagiv M, Yamin C, Meckel Y, Goldhammer E. ACTN3 R577X polymorphism and Israeli top-level athletes. Int J Sports Med 2009; 30: 695-698
9 Eynon N, Ruiz JR, Femia P, Pushkarev VP, Cieszczyk P, Maciejewska-Karlowska A, Sawczuk M, Dyatlov DA, Lekontsev EV, Kulikov LM, Birk R, Bishop DJ, Lucia A. The ACTN3 R577X polymorphism across three groups of elite male European athletes. PLoS One 2012; 7: e43132
10 Fiuza-Luces C, Ruiz JR, Rodriguez-Romo G, Santiago C, Gomez-Gallego F, Yvert T, Cano-Nieto A, Garatachea N, Moran M, Lucia A. Are ‘endurance’ alleles ‘survival’ alleles? Insights from the ACTN3 R577X polymorphism. PLoS One 2011; 6: e17558
11 Giampaoli S, Chillemi G, Valeriani F, Lazzaro D, Borro M, Gentile G, Simmaco M, Zanni G, Berti A, Romano Spica V. The SNPs in the human genetic blueprint era. New biotechnology 2012;
12 Gineviciene V, Pranculis A, Jakaitiene A, Milasius K, Kucinskas V. Genetic variation of the human ACE and ACTN3 genes and their association with functional muscle properties in Lithuanian elite athletes. Medicina (Kaunas) 2011; 47: 284-290
13 Grealy R, Smith CL, Chen T, Hiller D, Haseler LJ, Griffiths LR. The genetics of endurance: Frequency of the ACTN3 R577X variant in Ironman World Championship athletes. J Sci Med Sport [in press]
14 Harriss DJ, Atkinson G. Update – Ethical standards in sport and exercise science research. Int J Sports Med 2011; 32: 819-821
15 Lucia A, Gomez-Gallego F, Santiago C, Bandres F, Earnest C, Rabadan M, Alonso JM, Hoyos J, Cordova A, Villa G, Foster C. ACTN3 genotype in professional endurance cyclists. Int J Sports Med 2006; 27: 880-884
16 Lucia A, Olivan J, Gomez-Gallego F, Santiago C, Montil M, Foster C. Citius and longius (faster and longer) with no alpha-actinin-3 in skeletal muscles?. Br J Sports Med 2007; 41: 616-617
17 Ma F, Yang Y, Li X, Zhou F, Gao C, Li M, Gao L. The association of sport performance with ACE and ACTN3 genetic polymorphisms: a systematic review and meta-analysis. PLoS One 2013; 8: e54685
18 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 alpha-actinin-3 deficiency and human athletic performance. Hum Mol Genet 2008; 17: 1076-1086
19 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
20 Muniesa CA, Gonzalez-Freire M, Santiago C, Lao JI, Buxens A, Rubio JC, Martin MA, Arenas J, Gomez-Gallego F, Lucia A. World-class performance in lightweight rowing: is it genetically influenced? A comparison with cyclists, runners and non-athletes. Br J Sports Med 2010; 44: 898-901
21 Niemi AK, Majamaa K. Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. Eur J Hum Genet 2005; 13: 965-969
22 North KN, Beggs AH. Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy. Neuromuscul Disord 1996; 6: 229-235
23 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
24 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
25 Pitsiladis Y, Wang G. Necessary advances in exercise genomics and likely pitfalls. J Appl Physiol 2011; 110: 1150-1151
26 Roth SM, Rankinen T, Hagberg JM, Loos RJ, Perusse L, Sarzynski MA, Wolfarth B, Bouchard C. Advances in exercise, fitness, and performance genomics in 2011. Med Sci Sports Exerc 2012; 44: 809-817
27 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
28 Ruiz JR, Fernandez del Valle M, Verde Z, Diez-Vega I, Santiago C, Yvert T, Rodriguez-Romo G, Gomez-Gallego F, Molina JJ, Lucia A. ACTN3 R577X polymorphism does not influence explosive leg muscle power in elite volleyball players. Scand J Med Sci Sports 2011; 21: e34-e41
29 Saito D, Fuku N, Mikami E, Kawahara T, Tanaka H, Higuchi M, Tanaka M. The ACTN3 R577X nonsense allele is under-represented in elite-level Japanese endurance runners. Jpn J Phys Fitness Sports Med 2011; 60: 443-451
30 Santiago C, Gonzalez-Freire M, Serratosa L, Morate FJ, Meyer T, Gomez-Gallego F, Lucia A. ACTN3 genotype in professional soccer players. Br J Sports Med 2008; 42: 71-73
31 Santiago C, Rodriguez-Romo G, Gomez-Gallego F, Gonzalez-Freire M, Yvert T, Verde Z, Naclerio F, Altmae S, Esteve-Lanao J, Ruiz JR, Lucia A. Is there an association between ACTN3 R577X polymorphism and muscle power phenotypes in young, non-athletic adults?. Scand J Med Sci Sports 2010; 20: 771-778
32 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
33 Scott RA, Irving R, Irwin L, Morrison E, Charlton V, Austin K, Tladi D, Deason M, Headley SA, Kolkhorst FW, Yang N, North K, Pitsiladis YP. ACTN3 and ACE genotypes in elite Jamaican and US sprinters. Med Sci Sports Exerc 2010; 42: 107-112
34 Shang X, Huang C, Chang Q, Zhang L, Huang T. Association between the ACTN3 R577X polymorphism and female endurance athletes in China. Int J Sports Med 2010; 31: 913-916
35 Tucker R, Collins M. What makes champions? A review of the relative contribution of genes and training to sporting success. Br J Sports Med 2012; 46: 555-561
36 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
37 Vincent B, Windelinckx A, Van Proeyen K, Masschelein E, Nielens H, Ramaekers M, Van Leemputte M, Hespel P, Thomis M. Alpha-actinin-3 deficiency does not significantly alter oxidative enzyme activity in fast human muscle fibres. Acta Physiol (Oxf) 2012; 204: 555-561
38 Wang G, Mikami E, Chiu L, Perini A, Deason M, Fuku N, Miyachi M, Kaneoka K, Murakami H, Tanaka M, Hsieh L, Hsieh S, Caporossi D, Pigozzi F, Hilley A, Lee R, Galloway SDR, Gulbin J, Rogozkin VA, Ahmetov II, Yang N, North KN, Ploutarhos S, Montgomery HE, Bailey MES, Pitsiladis YP. Association analysis of ACE and ACTN3 in Elite Caucasian and East Asian Swimmers. Med Sci Sports Exerc 2013; 45: 892-900
39 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
40 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 Sports Exerc 2007; 39: 1985-1988