ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters : A multi-cohort study. / 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, Antonio H.; Ginevičiene, 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.
In: BMC Genomics, Vol. 17, No. 1, 285, 13.04.2016.Research output: Contribution to journal › Article › peer-review
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TY - JOUR
T1 - ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters
T2 - A multi-cohort study
AU - Papadimitriou, Ioannis D.
AU - Lucia, Alejandro
AU - Pitsiladis, Yannis P.
AU - Pushkarev, Vladimir P.
AU - Dyatlov, Dmitry A.
AU - Orekhov, Evgeniy F.
AU - Artioli, Guilherme G.
AU - Guilherme, João Paulo L.F.
AU - Lancha, Antonio H.
AU - Ginevičiene, Valentina
AU - Cieszczyk, Pawel
AU - Maciejewska-Karlowska, Agnieszka
AU - Sawczuk, Marek
AU - Muniesa, Carlos A.
AU - Kouvatsi, Anastasia
AU - Massidda, Myosotis
AU - Calò, Carla Maria
AU - Garton, Fleur
AU - Houweling, Peter J.
AU - Wang, Guan
AU - Austin, Krista
AU - Druzhevskaya, Anastasiya M.
AU - Astratenkova, Irina V.
AU - Ahmetov, Ildus I.
AU - Bishop, David J.
AU - North, Kathryn N.
AU - Eynon, Nir
PY - 2016/4/13
Y1 - 2016/4/13
N2 - 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.
AB - 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.
KW - ACE
KW - ACTN3
KW - Athletes
KW - Athletic performance
KW - Exercise
KW - Genomics
KW - Sprint
KW - α-actinin-3
UR - http://www.scopus.com/inward/record.url?scp=84963502500&partnerID=8YFLogxK
U2 - 10.1186/s12864-016-2462-3
DO - 10.1186/s12864-016-2462-3
M3 - Article
C2 - 27075997
AN - SCOPUS:84963502500
VL - 17
JO - BMC Genomics
JF - BMC Genomics
SN - 1471-2164
IS - 1
M1 - 285
ER -
ID: 36586968