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

• Published in: BMC genomics Vol. 17; no. 270; p. 285
• Main Authors: Papadimitriou, Ioannis D, Lucia, Alejandro, Pitsiladis, Yannis P, Pushkarev, Vladimir P, Dyatlov, Dmitry A, Orekhov, Evgeniy F, Artioli, Guilherme G, Guilherme, João Paulo L F, Lancha, Jr, Antonio H, Ginevičienė, Valentina, Cieszczyk, Pawel, Maciejewska-Karlowska, Agnieszka, Sawczuk, Marek, Muniesa, Carlos A, Kouvatsi, Anastasia, Massidda, Myosotis, Calò, Carla Maria, Garton, Fleur, Houweling, Peter J, Wang, Guan, Austin, Krista, Druzhevskaya, Anastasiya M, Astratenkova, Irina V, Ahmetov, Ildus I, Bishop, David J, North, Kathryn N, Eynon, Nir
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 13.04.2016; BioMed Central
• Subjects: Actinin - genetics; African Continental Ancestry Group; Alleles; Athletes; Athletic Performance; Cohort Studies; European Continental Ancestry Group; Female; Genetic variation; Genotype; Health aspects; Humans; Male; Peptidyl-Dipeptidase A - genetics; Polymorphism, Genetic; Running; Sprinting; ACE; Exercise; ACTN3; α-actinin-3; Genomics; Sprint; Athletes; Athletic performance
• ISSN: 1471-2164; 1471-2164
• DOI: 10.1186/s12864-016-2462-3

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. To examine the association between these variants and sprint time in elite athletes. 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. 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. 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.