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

Ioannis D. Papadimitriou, Alejandro Lucia, Yannis P. Pitsiladis, Vladimir P. Pushkarev, Dmitry A. Dyatlov, Evgeniy F. Orekhov, Guilherme G. Artioli, João Paulo L.F. Guilherme, Antonio H. Lancha Jr, Valentina Ginevičiene, Pawel Cieszczyk, Agnieszka Maciejewska-Karlowska, Marek Sawczuk, Carlos A. Muniesa, Anastasia Kouvatsi, Myosotis Massidda, Carla Maria Calò, Fleur Garton, Peter J. Houweling, Guan WangKrista Austin, Anastasiya M. Druzhevskaya, Irina V. Astratenkova, Ildus I. Ahmetov, David J. Bishop, Kathryn N. North, Nir Eynon*

*Corresponding author for this work

Research output: Contribution to journalJournal articlepeer-review

105 Citations (Scopus)


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.

Original languageEnglish
Article number285
Number of pages8
JournalBMC Genomics
Publication statusPublished - 13 Apr 2016

Scopus Subject Areas

  • Biotechnology
  • Genetics

User-Defined Keywords

  • ACTN3
  • ACE
  • Genomics
  • Athletic performance
  • Exercise
  • Athletes
  • Sprint
  • α-actinin-3


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