The ACTN3 R577X Polymorphism across Three Groups of Elite Male European Athletes
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AutorEynon, Nir; Ruiz, Jonatan R.; Femia, Pedro; Pushkarev, Vladimir P.; Cieszczyk, Pawel; Maciejewska-Karlwska, Agnieszka; Sawczuk, Marek; Dyatlow, Dmitry A.; Lekontsev, Evgeny V.; Kulikov, Leonid M.; Bishop, David J.; Lucía, Alejandro
Public Library of Science (PLOS)
DNA isolationFast-twitch muscle fibersGamesGenotypingHuman performancePolymerase chain reactionSpainVariant genotypes
Eynon, N.; et al. The ACTN3 R577X Polymorphism across Three Groups of Elite Male European Athletes. Plos One, 7(8): e43132 (2012). [http://hdl.handle.net/10481/30971]
PatrocinadorThis work was supported by the Consejo Superior de Deportes (grant # 001/UPR10/12), Spanish Ministry of Science and Innovation (RYC-2010-05957), Fondo de Investigaciones Sanitarias (ref. # PS09/00194), the Polish Ministry of Science and Higher Education (grant#404166334), and the Ministry of Sport, Tourism and Youth Policy of the Russian Federation.
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.