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

Grealy, Rebecca, Smith, Carl L.E., Chen, Timothy, Hiller, Doug, Haseler, Luke J., & Griffiths, Lyn R. (2013) The genetics of endurance : frequency of the ACTN3 R577X variant in Ironman World Championship athletes. Journal of Science and Medicine in Sport, 16(4), pp. 365-371.

View at publisher


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.

Impact and interest:

5 citations in Scopus
Search Google Scholar™
6 citations in Web of Science®

Citation counts are sourced monthly from Scopus and Web of Science® citation databases.

These databases contain citations from different subsets of available publications and different time periods and thus the citation count from each is usually different. Some works are not in either database and no count is displayed. Scopus includes citations from articles published in 1996 onwards, and Web of Science® generally from 1980 onwards.

Citations counts from the Google Scholar™ indexing service can be viewed at the linked Google Scholar™ search.

ID Code: 62466
Item Type: Journal Article
Refereed: Yes
DOI: 10.1016/j.jsams.2012.08.013
ISSN: 1440-2440
Divisions: Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2013 Elsevier Australia
Deposited On: 12 Sep 2013 06:47
Last Modified: 29 Oct 2013 06:23

Export: EndNote | Dublin Core | BibTeX

Repository Staff Only: item control page