ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study

Papadimitriou, Id;Lucia, A;Pitsiladis, Yp;Pushkarev, Vp;Dyatlov, Da;Orekhov, Ef;Artioli, Gg;Guilherme, Jp;Lancha, Ah;Ginevičienė, V;Cieszczyk, P;Maciejewska Karlowska, A;Sawczuk, M;Muniesa, Ca;Kouvatsi, A;Massidda, M;CALO', CARLA MARIA;Garton, F;Houweling, Pj;Wang, G;Austin, K;Druzhevskaya, Am;Astratenkova, Iv;Ahmetov, Ii;Bishop, Dj;North, Kn;Eynon, N.

2016-01-01

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Abstract

BACKGROUND: To date, studies investigating the association between ACTN3 R577X and ACE I/D gene variants and elite sprint/power performance have been limited by small cohorts from mixed sport disciplines, without quantitative measures of performance. AIM: To examine the association between these variants and sprint time in elite athletes. METHODS: We collected a total of 555 best personal 100-, 200-, and 400-m times of 346 elite sprinters in a large cohort of elite Caucasian or African origin sprinters from 10 different countries. Sprinters were genotyped for ACTN3 R577X and ACE ID variants. RESULTS: On average, male Caucasian sprinters with the ACTN3 577RR or the ACE DD genotype had faster best 200-m sprint time than their 577XX (21.19 ± 0.53 s vs. 21.86 ± 0.54 s, p = 0.016) and ACE II (21.33 ± 0.56 vs. 21.93 ± 0.67 sec, p = 0.004) counterparts and only one case of ACE II, and no cases of ACTN3 577XX, had a faster 200-m time than the 2012 London Olympics qualifying (vs. 12 qualified sprinters with 577RR or 577RX genotype). Caucasian sprinters with the ACE DD genotype had faster best 400-m sprint time than their ACE II counterparts (46.94 ± 1.19 s vs. 48.50 ± 1.07 s, p = 0.003). Using genetic models we found that the ACTN3 577R allele and ACE D allele dominant model account for 0.92 % and 1.48 % of sprint time variance, respectively. CONCLUSIONS: Despite sprint performance relying on many gene variants and environment, the % sprint time variance explained by ACE and ACTN3 is substantial at the elite level and might be the difference between a world record and only making the final.