The ACTN3 R577X polymorphism across three groups of elite male European athletes.
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.
Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Victoria, Australia. Nir.Eynon@vu.edu.au
Nir
N
Eynon
Jonatan R
JR
Ruiz
Pedro
P
Femia
Vladimir P
VP
Pushkarev
Pawel
P
Cieszczyk
Agnieszka
A
Maciejewska-Karlowska
Marek
M
Sawczuk
Dmitry A
DA
Dyatlov
Evgeny V
EV
Lekontsev
Leonid M
LM
Kulikov
Ruth
R
Birk
David J
DJ
Bishop
Alejandro
A
Lucia
D000185:Actinin / Q000235:genetics*; D000328:Adult; D056352:Athletes; D054874:Athletic Performance / Q000502:physiology; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D044465:White People; D055815:Young Adult
C118456:ACTN3 protein, human; D000185:Actinin