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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, JPLF, Lancha, AH, Gineviciene, V, Cieszczyk, P, Maciejewska-Karlowska, A, Sawczuk, M, Muniesa, CA, Kouvatsi, A, Massidda, M, Calo, CM, Garton, F, Houweling, PJ, Wang, G , Austin, K, Druzhevskaya, AM, Astratenkova, IV, Ahmetov, II, Bishop, DJ, North, KN and Eynon, N (2016) ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study. BMC Genomics, 17. ISSN 1471-2164

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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.

Item Type: Article
Uncontrolled Keywords: 06 Biological Sciences, 11 Medical and Health Sciences, 08 Information and Computing Sciences
Subjects: R Medicine > RC Internal medicine > RC1200 Sports Medicine
Divisions: Sport & Exercise Sciences
Publisher: BioMed Central
Related URLs:
Date Deposited: 30 Jan 2020 13:47
Last Modified: 04 Sep 2021 08:00
DOI or ID number: 10.1186/s12864-016-2462-3
URI: https://researchonline.ljmu.ac.uk/id/eprint/12148
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