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

Ioannis D. Papadimitriou; Alejandro Lucia; Yannis Pitsiladis; Vladimir P. Pushkarev; Dmitry A. Dyatlov; Evgeniy F. Orekhov; Guilherme G. Artioli; João Paulo F.L. Guilherme; Antonio H. Lancha Jr; Valentina Ginevičienė; Pawel Cieszczyk; Agnieszka Maciejewska-Karlowska; Marek Sawczuk; Carlos A. Muniesa; Anastasia Kouvatsi; Myosotis Massidda; Carla Maria Calò; Fleur C. Garton; Peter J. Houweling; Guan Wang; K. Austin; Anastasiya M. Druzhevskaya; Irina V. Astratenkova; I.I. Ahmetov; David J. Bishop; Kathryn N. North; Nir Eynon

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, Alejandro Lucia, Yannis Pitsiladis, Vladimir P. Pushkarev, Dmitry A. Dyatlov, Evgeniy F. Orekhov, Guilherme G. Artioli, João Paulo F.L. Guilherme, Antonio H. Lancha Jr, Valentina Ginevičienė, Pawel Cieszczyk, Agnieszka Maciejewska-Karlowska, Marek Sawczuk, Carlos A. Muniesa, Anastasia Kouvatsi, Myosotis Massidda, Carla Maria Calò, Fleur C. Garton, Peter J. Houweling, Guan WangK. Austin, Anastasiya M. Druzhevskaya, Irina V. Astratenkova, I.I. Ahmetov, David J. Bishop, Kathryn N. North, Nir Eynon

University of Brighton

Research output: Contribution to journal › Article › peer-review

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±0.53s vs. 21.86±0.54s, 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±1.19s vs. 48.50±1.07s, 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.

Original language	English
Article number	285
Pages (from-to)	1-8
Number of pages	8
Journal	BMC Genomics
Volume	17
Issue number	1
DOIs	https://doi.org/10.1186/s12864-016-2462-3
Publication status	Published - 13 Apr 2016

Bibliographical note

© 2016 Papadimitriou et al. Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

Keywords

ACTN3
ACE
Genomics
Athletic performance
Exercise
Athletes
Sprint

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Cite this

Papadimitriou, I. D., Lucia, A., Pitsiladis, Y., Pushkarev, V. P., Dyatlov, D. A., Orekhov, E. F., Artioli, G. G., Guilherme, J. P. F. L., Lancha Jr, A. H., Ginevičienė, V., Cieszczyk, P., Maciejewska-Karlowska, A., Sawczuk, M., Muniesa, C. A., Kouvatsi, A., Massidda, M., Calò, C. M., Garton, F. C., Houweling, P. J., ... Eynon, N. (2016). ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study. BMC Genomics, 17(1), 1-8. Article 285. https://doi.org/10.1186/s12864-016-2462-3

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

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±0.53s vs. 21.86±0.54s, 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±1.19s vs. 48.50±1.07s, 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 = "ACTN3, ACE, Genomics, Athletic performance, Exercise, Athletes, Sprint",

author = "Papadimitriou, {Ioannis D.} and Alejandro Lucia and Yannis Pitsiladis and Pushkarev, {Vladimir P.} and Dyatlov, {Dmitry A.} and Orekhov, {Evgeniy F.} and Artioli, {Guilherme G.} and Guilherme, {Jo{\~a}o Paulo F.L.} and {Lancha Jr}, {Antonio H.} and Valentina Ginevi{\v c}ienė and Pawel Cieszczyk and Agnieszka Maciejewska-Karlowska and Marek Sawczuk and Muniesa, {Carlos A.} and Anastasia Kouvatsi and Myosotis Massidda and Cal{\`o}, {Carla Maria} and Garton, {Fleur C.} and Houweling, {Peter J.} and Guan Wang and K. Austin and Druzhevskaya, {Anastasiya M.} and Astratenkova, {Irina V.} and I.I. Ahmetov and Bishop, {David J.} and North, {Kathryn N.} and Nir Eynon",

note = "{\textcopyright} 2016 Papadimitriou et al. Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.",

year = "2016",

month = apr,

day = "13",

doi = "10.1186/s12864-016-2462-3",

language = "English",

volume = "17",

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Papadimitriou, ID, Lucia, A, Pitsiladis, Y, Pushkarev, VP, Dyatlov, DA, Orekhov, EF, Artioli, GG, Guilherme, JPFL, Lancha Jr, AH, Ginevičienė, V, Cieszczyk, P, Maciejewska-Karlowska, A, Sawczuk, M, Muniesa, CA, Kouvatsi, A, Massidda, M, Calò, CM, Garton, FC, Houweling, PJ, Wang, G, Austin, K, Druzhevskaya, AM, Astratenkova, IV, Ahmetov, II, Bishop, DJ, North, KN & Eynon, N 2016, 'ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study', BMC Genomics, vol. 17, no. 1, 285, pp. 1-8. https://doi.org/10.1186/s12864-016-2462-3

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

AU - Pushkarev, Vladimir P.

AU - Dyatlov, Dmitry A.

AU - Orekhov, Evgeniy F.

AU - Artioli, Guilherme G.

AU - Guilherme, João Paulo F.L.

AU - Lancha Jr, Antonio H.

AU - Ginevičienė, 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 C.

AU - Houweling, Peter J.

AU - Wang, Guan

AU - Austin, K.

AU - Druzhevskaya, Anastasiya M.

AU - Astratenkova, Irina V.

AU - Ahmetov, I.I.

AU - Bishop, David J.

AU - North, Kathryn N.

AU - Eynon, Nir

N1 - © 2016 Papadimitriou et al. Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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±0.53s vs. 21.86±0.54s, 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±1.19s vs. 48.50±1.07s, 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±0.53s vs. 21.86±0.54s, 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±1.19s vs. 48.50±1.07s, 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 - ACTN3

KW - ACE

KW - Genomics

KW - Athletic performance

KW - Exercise

KW - Athletes

KW - Sprint

U2 - 10.1186/s12864-016-2462-3

DO - 10.1186/s12864-016-2462-3

M3 - Article

SN - 1471-2164

VL - 17

SP - 1

EP - 8

JO - BMC Genomics

JF - BMC Genomics

IS - 1

M1 - 285

ER -