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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.

Original publication

DOI

10.1002/humu.21526

Type

Journal article

Journal

Human mutation

Publication Date

09/2011

Volume

32

Pages

1008 - 1018

Addresses

School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom. tamuno.alfred@bristol.ac.uk

Keywords

HALCyon study team, Humans, Actinin, Physical Endurance, Genotype, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Child, Female, Male, Young Adult, Athletes, Genetic Association Studies