| Title |
ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study / |
| Authors |
Papadimitriou, Ioannis ; 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 ; Calo, 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 |
| DOI |
10.1186/s12864-016-2462-3 |
| Full Text |
|
| Is Part of |
BMC Genomics.. London : BioMed Central Ltd. 2016, Vol. 17, Art. No. 285.. ISSN 1471-2164 |
| Keywords [eng] |
ACTN3 ; ACE ; genomics ; athletic performance ; Exercise ; Athletes ; Sprint ; α-actinin-3 |
| Abstract [eng] |
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. |
| Published |
London : BioMed Central Ltd |
| Type |
Journal article |
| Language |
English |
| Publication date |
2016 |
