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.
  
  
  OBJECTIVE
  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.
authors.affiliation: Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, 8001, Australia.
authors.forename: Ioannis D
authors.initials: ID
authors.lastname: Papadimitriou
authors.affiliation: Universidad Europea and Research Institute Hospital 12 de Octubre, Madrid, Spain.
authors.forename: Alejandro
authors.initials: A
authors.lastname: Lucia
authors.affiliation: FIMS Reference Collaborating Centre of Sports Medicine for Anti-Doping Research, University of Brighton, Brighton, UK.
authors.forename: Yannis P
authors.initials: YP
authors.lastname: Pitsiladis
authors.affiliation: Clinical Physiology Laboratory, Urals Research Centre for Radiation Medicine, Chelyabinsk, Russia.
authors.forename: Vladimir P
authors.initials: VP
authors.lastname: Pushkarev
authors.affiliation: Ural State University of Physical Culture, Chelyabinsk, Russia.
authors.forename: Dmitry A
authors.initials: DA
authors.lastname: Dyatlov
authors.affiliation: Ural State University of Physical Culture, Chelyabinsk, Russia.
authors.forename: Evgeniy F
authors.initials: EF
authors.lastname: Orekhov
authors.affiliation: School of Physical Education and Sport, University of Sao Paulo, Sao Paulo, Brazil.
authors.forename: Guilherme G
authors.initials: GG
authors.lastname: Artioli
authors.affiliation: School of Physical Education and Sport, University of Sao Paulo, Sao Paulo, Brazil.
authors.forename: João Paulo L F
authors.initials: JP
authors.lastname: Guilherme
authors.affiliation: School of Physical Education and Sport, University of Sao Paulo, Sao Paulo, Brazil.
authors.forename: Antonio H
authors.initials: AH
authors.lastname: Lancha
authors.affiliation: Department of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania.
authors.forename: Valentina
authors.initials: V
authors.lastname: Ginevičienė
authors.affiliation: Department of Physical Culture and Health Promotion, University of Szczecin, Szczecin, Poland.|Department of Sport Education, Academy of Physical Education and Sport, Gdansk, Poland.
authors.forename: Pawel
authors.initials: P
authors.lastname: Cieszczyk
authors.affiliation: Department of Physical Culture and Health Promotion, University of Szczecin, Szczecin, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Maciejewska-Karlowska
authors.affiliation: Department of Physical Culture and Health Promotion, University of Szczecin, Szczecin, Poland.
authors.forename: Marek
authors.initials: M
authors.lastname: Sawczuk
authors.affiliation: Faculty of Physical Activity, Universidad Europea de Madrid, Alcobendas, Spain.
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Muniesa
authors.affiliation: Department of Genetics, Development and Molecular Biology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Anastasia
authors.initials: A
authors.lastname: Kouvatsi
authors.affiliation: Department of Life and Environmental Sciences, University of Cagliari, Cagliari, Italy.
authors.forename: Myosotis
authors.initials: M
authors.lastname: Massidda
authors.affiliation: Department of Life and Environmental Sciences, University of Cagliari, Cagliari, Italy.
authors.forename: Carla Maria
authors.initials: CM
authors.lastname: Calò
authors.affiliation: Murdoch Childrens Research Institute, Melbourne, Australia.
authors.forename: Fleur
authors.initials: F
authors.lastname: Garton
authors.affiliation: Murdoch Childrens Research Institute, Melbourne, Australia.
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Houweling
authors.affiliation: FIMS Reference Collaborating Centre of Sports Medicine for Anti-Doping Research, University of Brighton, Brighton, UK.
authors.forename: Guan
authors.initials: G
authors.lastname: Wang
authors.affiliation: FIMS Reference Collaborating Centre of Sports Medicine for Anti-Doping Research, University of Brighton, Brighton, UK.
authors.forename: Krista
authors.initials: K
authors.lastname: Austin
authors.affiliation: Sports Genetics Laboratory, St Petersburg Research Institute of Physical Culture, St. Petersburg, Russia.
authors.forename: Anastasiya M
authors.initials: AM
authors.lastname: Druzhevskaya
authors.affiliation: Department of Physiology, St Petersburg State University, St. Petersburg, Russia.
authors.forename: Irina V
authors.initials: IV
authors.lastname: Astratenkova
authors.affiliation: Sport Technology Research Centre, Volga Region State Academy of Physical Culture, Sport and Tourism, Kazan, Russia.
authors.forename: Ildus I
authors.initials: II
authors.lastname: Ahmetov
authors.affiliation: Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, 8001, Australia.
authors.forename: David J
authors.initials: DJ
authors.lastname: Bishop
authors.affiliation: Murdoch Childrens Research Institute, Melbourne, Australia.
authors.forename: Kathryn N
authors.initials: KN
authors.lastname: North
authors.affiliation: Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, 8001, Australia. Nir.Eynon@vu.edu.au.
authors.forename: Nir
authors.initials: N
authors.lastname: Eynon
mesh_terms: D000185:Actinin / Q000235:genetics*; D000483:Alleles; D056352:Athletes; D054874:Athletic Performance; D044383:Black People; D015331:Cohort Studies; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D011110:Polymorphism, Genetic; D012420:Running; D044465:White People
chemical_list: C118456:ACTN3 protein, human; D000185:Actinin; C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A
keywords: ACE; ACTN3; Athletes; Athletic performance; Exercise; Genomics; Sprint; α-actinin-3