• 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
  • 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 Wang
  • Krista Austin
  • Anastasiya M. Druzhevskaya
  • Ildus I. Ahmetov
  • David J. Bishop
  • Kathryn N. North
  • Nir Eynon

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
JournalBMC Genomics
Volume17
Issue number1
DOIs
StatePublished - 13 Apr 2016

    Scopus subject areas

  • Biotechnology
  • Genetics

    Research areas

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

ID: 36586968