ACTN3 genotype, athletic status, and life course physical capability: meta‐analysis of the published literature and findings from nine studies

Abstract

The ACTN3 R577X (rs1815739) genotype has been associated with athletic status and muscle phenotypes, although not consistently. Our objective was to conduct a meta-analysis of the published literature on athletic status and investigate its associations with physical capability in several new population-based studies. Relevant data were extracted from studies in the literature, comparing genotype frequencies between controls and sprint/power and endurance athletes. For life course physical capability, data were used from two studies of adolescents and seven studies in the Healthy Ageing across the Life Course (HALCyon) collaborative research program, involving individuals aged between 53 and 90+ years. We found evidence from the published literature to support the hypothesis that in Europeans the RR genotype is more common among sprint/power athletes compared with their controls. There is currently no evidence that the X allele is advantageous to endurance athleticism. We found no association between R577X and grip strength (P = 0.09, n = 7,672 in males; P = 0.90, n = 7,839 in females), standing balance, timed get up and go, or chair rises in our studies of physical capability. The ACTN3 R577X genotype is associated with sprint/power athletic status in Europeans, but does not appear to be associated with objective measures of physical capability in the general population. Hum Mutat 32:1–11, 2011. © 2011 Wiley-Liss, Inc.

ACTN3 R577X polymorphism and team-sport performance: A study involving three European cohorts

“…15 The 577RR genotype has been previously associated with elite, power-oriented athletic status (i.e., sprinters, jumpers and throwers) in several cohorts of Caucasian athletes, 5,6,19 with one exception. 20 With regards to this, a recent meta-analysis showed a strong association between the 577RR genotype and power athletic performance especially among Europeans, regardless of the significant heterogeneity among the groups of athletes.…”

“…20 With regards to this, a recent meta-analysis showed a strong association between the 577RR genotype and power athletic performance especially among Europeans, regardless of the significant heterogeneity among the groups of athletes. 15 Team sports are intermittent in nature and require the repetition of powerful movements including short-distance sprinting and jumping, 21 and these actions require the working muscles to produce force at a high velocity. 22 We therefore hypothesised that the 577RR genotype frequency distribution would be higher in team-sport athletes compared to the control group.…”

“…We compared the frequency distribution of the ACTN3 R577X polymorphism between team-sport athletes, elite endurance athletes, elite powerathletes, and ethnically matched, non-athletic controls, in a large cohort of European athletes. Given that team-sport athletes perform multiple sprints and jumps during a match, and the frequency distribution of the 577RR genotype is consistently higher in power athletes than it is in controls, 15 we hypothesised that the 577RR genotype frequency distribution would be higher in team-sport athletes compared to the control group.…”

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“…The results of several meta-analyses have allowed establishing that the total number identified to date, genetic markers, only 31 showed positive associations with athlete status in at least 2 studies and 12 in 3 or more studies [27,28,34,40]. On the other hand, the value of the 29 markers (24%) had played in at least one study that indicates a possible false-positivity of information.…”

“…In a meta-analysis Alfred, et al [27] it is shown that the ACTN3 RR genotype is more common among European athletes speed and power sports than among athletes. In another metaanalysis Ma, et al [28] also found a positive Association between the ACTN3 RR and RX genotypes and athletic status in speed-power kinds of sports, but only in European populations, but not in Asian or African.…”