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. 2016 Apr 13:17:285.
doi: 10.1186/s12864-016-2462-3.

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

Ioannis D Papadimitriou  1 , Alejandro Lucia  2 , Yannis P Pitsiladis  3 , Vladimir P Pushkarev  4 , Dmitry A Dyatlov  5 , Evgeniy F Orekhov  5 , Guilherme G Artioli  6 , João Paulo L F Guilherme  6 , Antonio H Lancha Jr  6 , Valentina Ginevičienė  7 , Pawel Cieszczyk  8   9 , Agnieszka Maciejewska-Karlowska  8 , Marek Sawczuk  8 , Carlos A Muniesa  10 , Anastasia Kouvatsi  11 , Myosotis Massidda  12 , Carla Maria Calò  12 , Fleur Garton  13 , Peter J Houweling  13 , Guan Wang  3 , Krista Austin  3 , Anastasiya M Druzhevskaya  14 , Irina V Astratenkova  15 , Ildus I Ahmetov  16 , David J Bishop  1 , Kathryn N North  13 , Nir Eynon  17
Affiliations

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

Ioannis D Papadimitriou et al. BMC Genomics. .

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.

Keywords: ACE; ACTN3; Athletes; Athletic performance; Exercise; Genomics; Sprint; α-actinin-3.

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Figures

Fig. 1
Fig. 1
a Individual 200-m running times (±SD) in male Caucasian sprinters according to their ACTN3 R577X genotype and the qualifying times (QT) for the Olympic Games (20.65 s). b Individual 200-m running times (±SD) in male Caucasian sprinters according to their ACE I/D genotype and the qualifying times (QT) for the Olympic Games (20.65 s)
Fig. 2
Fig. 2
a Individual 400-m running times (±SD) in male Caucasian sprinters according to their ACTN3 R577X genotype and the qualifying times (QT) for the Olympic Games (45.90s). b Individual 400-m running times (±SD) in male Caucasian sprinters according to their ACE I/D genotype and the qualifying times (QT) for the Olympic Games (45.90s)
Fig. 3
Fig. 3
a Individual 100-m running times (±SD) in male Caucasian sprinters according to their ACTN3 R577X genotype and the qualifying times (QT) for the Olympic Games (10.24 s). b Individual 100-m individual running times (±SD) in male Caucasian sprinters according to their ACE I/D genotype and the qualifying times (QT) for the Olympic Games (10.24-s)
See this image and copyright information in PMC

References

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