The ACTN3 R577X Polymorphism across Three Groups of Elite Male European Athletes

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Eynon, Nir ORCID: 0000-0003-4046-8276, Ruiz, Jonatan R, Femia, Pedro, Pushkarev, Vladimir P, Cieszczyk, Pawel, Maciejewska-Karlowska, Agnieszka, Sawczuk, Marek, Dyatlov, Dmitry A, Lekontsev, Evgeny V, Kulikov, Leonid M, Birk, Ruth, Bishop, David ORCID: 0000-0002-6956-9188 and Lucia, Alejandro (2012) The ACTN3 R577X Polymorphism across Three Groups of Elite Male European Athletes. PLoS ONE, 7 (8). ISSN 1932-6203

Abstract

The ACTN3 R577X polymorphism (rs1815739) is a strong candidate to influence elite athletic performance. Yet, controversy exists in the literature owing to between-studies differences in the ethnic background and sample size of the cohorts, the latter being usually low, which makes comparisons difficult. In this case:control genetic study we determined the association between elite athletic status and the ACTN3 R577X polymorphism within three cohorts of European Caucasian men, i.e. Spanish, Polish and Russian [633 cases (278 elite endurance and 355 power athletes), and 808 non-athletic controls]. The odds ratio (OR) of a power athlete harbouring the XX versus the RR genotype compared with sedentary controls was 0.54 [95% confidence interval (CI): 0.34–0.48; P = 0.006]. We also observed that the OR of an endurance athlete having the XX versus the RR genotype compared with power athletes was 1.88 (95%CI: 1.07–3.31; P = 0.028). In endurance athletes, the OR of a “world-class” competitor having the XX genotype versus the RR+RX genotype was 3.74 (95%CI: 1.08–12.94; P = 0.038) compared with those of a lower (“national”) competition level. No association (P>0.1) was noted between the ACTN3 R577X polymorphism and competition level (world-class versus national-level) in power athletes. Our data provide comprehensive support for the influence of the ACTN3 R577X polymorphism on elite athletic performance.

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Item type Article
URI https://vuir.vu.edu.au/id/eprint/22733
DOI https://doi.org/10.1371/journal.pone.0043132
Official URL http://www.plosone.org/article/info%3Adoi%2F10.137...
Subjects Current > FOR Classification > 1106 Human Movement and Sports Science
Historical > Faculty/School/Research Centre/Department > Institute of Sport, Exercise and Active Living (ISEAL)
Keywords ResPubID25354, DNA isolation, fast-twitch muscle fibers, games, genotyping, human performance, polymerase chain reaction, Spain, variant genotypes
Citations in Scopus 59 - View on Scopus
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