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

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...

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Published inBMC 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
LanguageEnglish
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
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Abstract 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.
AbstractList 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. 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 [+ or -] 0.53 s vs. 21.86 [+ or -] 0.54 s, p = 0.016) and ACE II (21.33 [+ or -] 0.56 vs. 21.93 [+ or -] 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 [+ or -] 1.19 s vs. 48.50 [+ or -] 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.
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.
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 [+ or -] 0.53 s vs. 21.86 [+ or -] 0.54 s, p = 0.016) and ACE II (21.33 [+ or -] 0.56 vs. 21.93 [+ or -] 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 [+ or -] 1.19 s vs. 48.50 [+ or -] 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, [alpha]-actinin-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.
BACKGROUNDTo 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.AIMTo examine the association between these variants and sprint time in elite athletes.METHODSWe 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.RESULTSOn 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.CONCLUSIONSDespite 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.
ArticleNumber 285
Audience Academic
Author Ginevičienė, Valentina
Garton, Fleur
Artioli, Guilherme G
Eynon, Nir
Pitsiladis, Yannis P
Pushkarev, Vladimir P
Orekhov, Evgeniy F
Guilherme, João Paulo L F
Cieszczyk, Pawel
Wang, Guan
Druzhevskaya, Anastasiya M
Sawczuk, Marek
North, Kathryn N
Ahmetov, Ildus I
Papadimitriou, Ioannis D
Houweling, Peter J
Lancha, Jr, Antonio H
Maciejewska-Karlowska, Agnieszka
Massidda, Myosotis
Bishop, David J
Muniesa, Carlos A
Dyatlov, Dmitry A
Calò, Carla Maria
Kouvatsi, Anastasia
Astratenkova, Irina V
Austin, Krista
Lucia, Alejandro
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  organization: Universidad Europea and Research Institute Hospital 12 de Octubre, Madrid, Spain
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  givenname: Anastasia
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  organization: Department of Genetics, Development and Molecular Biology, Aristotle University of Thessaloniki, Thessaloniki, Greece
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  surname: Massidda
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  organization: Department of Life and Environmental Sciences, University of Cagliari, Cagliari, Italy
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  givenname: Carla Maria
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  surname: Wang
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  surname: Austin
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  givenname: Anastasiya M
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  surname: Astratenkova
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  organization: Department of Physiology, St Petersburg State University, St. Petersburg, Russia
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  surname: Ahmetov
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  email: Nir.Eynon@vu.edu.au
  organization: Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, 8001, Australia. Nir.Eynon@vu.edu.au
BackLink https://www.ncbi.nlm.nih.gov/pubmed/27075997$$D View this record in MEDLINE/PubMed
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ContentType Journal Article
Copyright COPYRIGHT 2016 BioMed Central Ltd.
Copyright BioMed Central 2016
Papadimitriou et al. 2016
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– notice: Copyright BioMed Central 2016
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Keywords ACE
Exercise
ACTN3
α-actinin-3
Genomics
Sprint
Athletes
Athletic performance
Language English
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Snippet 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...
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...
BACKGROUNDTo date, studies investigating the association between ACTN3 R577X and ACE I/D gene variants and elite sprint/power performance have been limited by...
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StartPage 285
SubjectTerms 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
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Title ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study
URI https://www.ncbi.nlm.nih.gov/pubmed/27075997
https://www.proquest.com/docview/1797591162/abstract/
https://search.proquest.com/docview/1781541445
https://pubmed.ncbi.nlm.nih.gov/PMC4831144
Volume 17
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