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ACTN3 R577X genotype influences 100 and 200 m Olympic sprinting performance in seven cohorts of elite sprinters

I.D. Papadimitriou,1 A. Lucia,2 V.P. Pushkarev,3 D.A. Dyatlov,3 E.F. Orekhov,3 G.G. Artioli,4 J.F.L. Guilherme,4 A.H. Lancha Jr,4 V. Ginevičienė,5 P. Cieszczyk,6 A.M. Karlowska,6 M. Sawczuk,7 C.A. Muniesa,7 A. Kouvatsi,8 M. Massidda,9 C.M. Calò,9 D.J. Bishop,1 K.N. North10 and N. Eynon,1,10 1Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Melbourne, VIC 8001, Australia, 2School of Doctorate Studies and Research, Universidad Europea de Madrid, Spain, 3Ural State University of Physical Culture, Chelyabinsk, Russia, 4School of Physical Education and Sport, University of Sao Paulo, University of Sao Paulo, Brazil, 5Department of Human and Medical Genetics, Vilnius University, Lithuania, 6Academy of Physical Education and Sport, Department of Tourism and Recreation, Gdansk, Poland, 7Faculty of Physical Activity, Universidad Europea de Madrid, Universidad Europea de Madrid, Spain, 8Department of Genetics, Development and Molecular Biology, Aristotle University of Thessaloniki, Greece, 9Department of Life and Environmental Sciences, University of Cagliari, Italy and 10Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia.

Deficiency of α-actinin-3 protein, as a consequence of the ACTN3 577XX genotype, has repeatedly been associated with elite athletic performance (Yang et al., 2003; Niemi & Majamaa, 2005; Papadimitriou et al., 2008; Eynon et al., 2009,2012; Mikami et al., 2014). These association studies suggest that α-actinin-3 deficiency is detrimental to optimal fast muscle function at the extremes of sprint and power performance, possibly through a shift in the physiological and metabolic properties of “fast” glycolytic muscle fibres - as shown in mice (MacArthur et al., 2007,2008). However, these association studies in elite athletes have been limited by small sample size, the inclusion of sprint and power athletes from mixed sport disciplines, and a lack of quantitative measure of performance.

Aim: Therefore, the aim of the present study was to investigate the association between the ACTN3 R577X polymorphism and 100 m and 200 m personal best times using a new quantitative collaborative approach involving seven cohorts of elite sprinters.

Methods: A total of 238 personal best 100 m and 200 m sprint times for 144 (90 male and 54 female) elite sprinters from Greece, Italy, Poland, Lithuania, Russia, Spain and Brazil were analysed. The sprinters’ best personal sprint times, grouped according to sex and event (100 or 200 m), were expressed relative to the relevant current world record. Genotyping of the sprinters was performed using PCR. To compare the sprinters’ best times between all genotypes, and the gap between personal best sprint time and the relevant world record, we used one-way Analysis of Variance (ANOVA). To compare between the ACTN3 577RR genotype and the 577XX genotype (α-actinin-3 deficiency; hypothesized to be detrimental for sprinters), we used a parametric unpaired two-tailed t-test.

Results: On average, Caucasian sprinters with the ACTN3 577RR genotype had faster best 100 m sprint times than their ACTN3 577XX counterparts (P=0.02), and only one male, but no female, sprinter with the 577XX genotype had a best time faster than the 2012 London Olympics qualifying time (Table). Male 200 m sprinters with the ACTN3 577RR genotype ran faster than their 577XX counterparts (P=0.01), and there were no ACTN3 577XX male 200 m sprinters with a best time faster than the 2012 Olympic qualifying time (Table). Furthermore, the best sprint times for both males and females with the ACTN3 577RR genotype were closer to the relevant world record than their 577RX and 577XX counterparts (P=0.001) (Figure).

Figure

The 100-m and 200-m best sprint times (mean ± SD) according to ACTN3 genotype distribution and sprinters’ ancestry.

African Ancestry
(n=63) 		Caucasians
(n=175)
RR
(n=32) 		RX
(n=25) 		XX
(n=6) 		RR
(n=69) 		RX
(n=82) 		XX
(n=24)
100m
Male 		10.41±0.28
(n=12) 		10.33±0.28
(n=7) 		10.97±0.00
(n=1) 		10.57±0.29*
(n=23) 		10.67±0.35
(n=31) 		10.84±0.31
(n=9)
200m
Male 		21.10±0.72
(n=9) 		20.92±0.67
(n=6) 		22.58±0.00
(n=1) 		21.39±0.69**
(n=20) 		21.85±0.86
(n=22) 		22.22±0.88
(n=7)
100m
Female 		11.59±0.41
(n=7) 		11.47±0.37
(n=7) 		11.68±0.47
(n=2) 		11.97±0.42
(n=15) 		12.01±0.46
(n=15) 		12.11±0.35
(n=3)
200m
Female 		23.75±0.96
(n=4) 		22.94±0.40
(n=5) 		23.59±1.09
(n=2) 		24.26±0.90
(n=11) 		24.38±1.09
(n=14) 		25.41±0.57
(n=5)
*P=0.02; **P=0.01

Conclusion: Our large, multi-centre study has enabled us to demonstrate that it is unlikely for athletes with α-actinin-3 deficiency (577XX) to achieve speeds required for victory in Olympic sprint events. This finding could have important applications for identifying and coaching talented 100 and 200 m sprinters.

Eynon N, Duarte JA, Oliveira J, Sagiv M, Yamin C, Meckel Y, Sagiv M, Goldhammer E. (2009). ACTN3 R577X polymorphism and Israeli top-level athletes. International Journal of Sports Medicine 30, 695–698.

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. (2008). An Actn3 knockout mouse provides mechanistic insights into the association between α-actinin-3 deficiency and human athletic performance. Human Molecular Genetics 17, 1076-86.

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. (2007). Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nature Genetics 39: 1261-5.

Mikami E, Fuku N, Murakami H, Tsuchie H, Takahashi H, Ohiwa N, Tanaka H, Pitsiladis YP, Higuchi M, Miyachi M, Kawahara T, Tanaka M. (2014). ACTN3 R577X genotype is associated with sprinting in elite Japanese athletes. International Journal of Sports Medicine 35: 172-7.

Niemi AK, Majamaa K. (2005). Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. European Journal of Human Genetics 13: 965-9.

Papadimitriou ID, Papadopoulos C, Kouvatsi A, Triantaphyllidis C. (2008). The ACTN3 gene in elite Greek track and field athletes. International Journal of Sports Medicine 29: 352-5.

Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K. (2003). ACTN3 genotype is associated with human elite athletic performance. American Journal of Human Genetics 73: 627-31.