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

Ioannis D. Papadimitriou; Alejandro Lucia; Yannis P. Pitsiladis; Vladimir P. Pushkarev; Dmitry A. Dyatlov; Evgeniy F. Orekhov; Guilherme G. Artioli; João Paulo L.F. Guilherme; Antonio H. Lancha Jr; Valentina Ginevičiene; Pawel Cieszczyk; Agnieszka Maciejewska-Karlowska; Marek Sawczuk; Carlos A. Muniesa; Anastasia Kouvatsi; Myosotis Massidda; Carla Maria Calò; Fleur Garton; Peter J. Houweling; Guan Wang; Krista Austin; Anastasiya M. Druzhevskaya; Irina V. Astratenkova; Ildus 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 P. Pitsiladis
, Vladimir P. Pushkarev
, Dmitry A. Dyatlov
, Evgeniy F. Orekhov
, Guilherme G. Artioli
, João Paulo L.F. Guilherme
, Antonio H. Lancha Jr
, Valentina Ginevičiene
, Pawel Cieszczyk
, Agnieszka Maciejewska-Karlowska
, Marek Sawczuk
, Carlos A. Muniesa
, Anastasia Kouvatsi
, Myosotis Massidda
, Carla Maria Calò
, Fleur Garton
, Peter J. Houweling
, Guan Wang

Krista Austin, Anastasiya M. Druzhevskaya, Irina V. Astratenkova, Ildus I. Ahmetov, David J. Bishop, Kathryn N. North, Nir Eynon^*

^*Corresponding author for this work

Research output: Contribution to journal › Journal article › peer-review

126 Citations (Scopus)

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 ± 0.53 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.

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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

User-Defined Keywords

ACTN3
ACE
Genomics
Athletic performance
Exercise
Athletes
Sprint
α-actinin-3

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10.1186/s12864-016-2462-3

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Papadimitriou, I. D., Lucia, A., Pitsiladis, Y. P., Pushkarev, V. P., Dyatlov, D. A., Orekhov, E. F., Artioli, G. G., Guilherme, J. P. L. F., Lancha Jr, A. H., Ginevičiene, V., Cieszczyk, P., Maciejewska-Karlowska, A., Sawczuk, M., Muniesa, C. A., Kouvatsi, A., Massidda, M., Calò, C. M., Garton, F., 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, 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 ± 0.53 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.",

keywords = "ACTN3, ACE, Genomics, Athletic performance, Exercise, Athletes, Sprint, α-actinin-3",

author = "Papadimitriou, \{Ioannis D.\} and Alejandro Lucia and Pitsiladis, \{Yannis P.\} and Pushkarev, \{Vladimir P.\} and Dyatlov, \{Dmitry A.\} and Orekhov, \{Evgeniy F.\} and Artioli, \{Guilherme G.\} and Guilherme, \{Jo{\~a}o Paulo L.F.\} and \{Lancha Jr\}, \{Antonio H.\} and Valentina Ginevi{\v c}iene 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 Fleur Garton and Houweling, \{Peter J.\} and Guan Wang and Krista Austin and Druzhevskaya, \{Anastasiya M.\} and Astratenkova, \{Irina V.\} and Ahmetov, \{Ildus I.\} and Bishop, \{David J.\} and North, \{Kathryn N.\} and Nir Eynon",

note = "Publisher Copyright: {\textcopyright} 2016 Papadimitriou et al.",

year = "2016",

month = apr,

day = "13",

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

language = "English",

volume = "17",

journal = "BMC Genomics",

issn = "1471-2164",

publisher = "BioMed Central Ltd.",

}

Papadimitriou, ID, Lucia, A, Pitsiladis, YP, Pushkarev, VP, Dyatlov, DA, Orekhov, EF, Artioli, GG, Guilherme, JPLF, Lancha Jr, AH, Ginevičiene, V, Cieszczyk, P, Maciejewska-Karlowska, A, Sawczuk, M, Muniesa, CA, Kouvatsi, A, Massidda, M, Calò, CM, Garton, F, 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, 285. 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 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 Jr, 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 - ACTN3

KW - ACE

KW - Genomics

KW - Athletic performance

KW - Exercise

KW - Athletes

KW - Sprint

KW - α-actinin-3

UR - https://www.scopus.com/pages/publications/84963502500

U2 - 10.1186/s12864-016-2462-3

DO - 10.1186/s12864-016-2462-3

M3 - Journal article

C2 - 27075997

AN - SCOPUS:84963502500

SN - 1471-2164

VL - 17

JO - BMC Genomics

JF - BMC Genomics

M1 - 285

ER -

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

Abstract

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