Literature DB >> 23092649

The genetics of endurance: frequency of the ACTN3 R577X variant in Ironman World Championship athletes.

Rebecca Grealy1, Carl L E Smith, Timothy Chen, Doug Hiller, Luke J Haseler, Lyn R Griffiths.   

Abstract

OBJECTIVES: To investigate the frequency of the ACTN3 R577X polymorphism in elite endurance triathletes, and whether ACTN3 R577X is significantly associated with performance time.
DESIGN: Cross-sectional study.
METHODS: Saliva samples, questionnaires, and performance times were collected for 196 elite endurance athletes who participated in the 2008 Kona Ironman championship triathlon. Athletes were of predominantly North American, European, and Australian origin. A one-way analysis of variance was conducted to compare performance times between genotype groups. Multiple linear regression analysis was performed to model the effect of questionnaire variables and genotype on performance time. Genotype and allele frequencies were compared to results from different populations using the chi-square test.
RESULTS: Performance time did not significantly differ between genotype groups, and age, sex, and continent of origin were significant predictors of finishing time (age and sex: p<5×10(-6); continent: p=0.003) though genotype was not. Genotype and allele frequencies obtained (RR 26.5%, RX 50.0%, XX 23.5%, R 51.5%, X 48.5%) were found to be not significantly different from Australian, Spanish, and Italian endurance athletes (p>0.05), but were significantly different from Kenyan, Ethiopian, and Finnish endurance athletes (p<0.01).
CONCLUSIONS: Genotype and allele frequencies agreed with those reported for endurance athletes of similar ethnic origin, supporting previous findings for an association between 577X allele and endurance. However, analysis of performance time suggests that ACTN3 does not alone influence endurance performance, or may have a complex effect on endurance performance due to a speed/endurance trade-off.
Copyright © 2012 Sports Medicine Australia. Published by Elsevier Ltd. All rights reserved.

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Year:  2012        PMID: 23092649     DOI: 10.1016/j.jsams.2012.08.013

Source DB:  PubMed          Journal:  J Sci Med Sport        ISSN: 1878-1861            Impact factor:   4.319


  6 in total

Review 1.  More than a 'speed gene': ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries.

Authors:  Juan Del Coso; Danielle Hiam; Peter Houweling; Laura M Pérez; Nir Eynon; Alejandro Lucía
Journal:  Eur J Appl Physiol       Date:  2018-10-16       Impact factor: 3.078

2.  Genetic variants associated with exercise performance in both moderately trained and highly trained individuals.

Authors:  N R Harvey; S Voisin; P J Dunn; H Sutherland; X Yan; M Jacques; I D Papadimitriou; L J Haseler; K J Ashton; L M Haupt; N Eynon; L R Griffiths
Journal:  Mol Genet Genomics       Date:  2020-01-02       Impact factor: 3.291

3.  The ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults.

Authors:  Chelsea L Deschamps; Kimberly E Connors; Matthias S Klein; Virginia L Johnsen; Jane Shearer; Hans J Vogel; Joseph M Devaney; Heather Gordish-Dressman; Gina M Many; Whitney Barfield; Eric P Hoffman; William E Kraus; Dustin S Hittel
Journal:  PLoS One       Date:  2015-06-24       Impact factor: 3.240

4.  Evaluation of a 7-Gene Genetic Profile for Athletic Endurance Phenotype in Ironman Championship Triathletes.

Authors:  Rebecca Grealy; Jasper Herruer; Carl L E Smith; Doug Hiller; Luke J Haseler; Lyn R Griffiths
Journal:  PLoS One       Date:  2015-12-30       Impact factor: 3.240

5.  ACTN3 Genotype in Professional Sport Climbers.

Authors:  Michał Ginszt; Małgorzata Michalak-Wojnowska; Piotr Gawda; Magdalena Wojcierowska-Litwin; Iwona Korszeń-Pilecka; Małgorzata Kusztelak; Rafał Muda; Agata A Filip; Piotr Majcher
Journal:  J Strength Cond Res       Date:  2018-05       Impact factor: 3.775

6.  Greater muscle damage in athletes with ACTN3 R577X (RS1815739) gene polymorphism after an ultra-endurance race: a pilot study.

Authors:  T Belli; A H Crisp; R Verlengia
Journal:  Biol Sport       Date:  2017-01-01       Impact factor: 2.806

  6 in total

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