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

Year: 2011

Type: article

Study designs: Systematic Review, Meta-Analysis

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.

Source: Human Mutation

DOI: 10.1002/humu.21526

Authors: Tamuno Alfred, Yoav Ben‐Shlomo, Rachel Cooper, Rebecca Hardy, Cyrus Cooper, Ian J. Deary, David Gunnell, Sarah E. Harris, Meena Kumari, Richard M. Martin, Colin N. Moran, Yannis P. Pitsiladis, Susan M. Ring, Avan Aihie Sayer, George Davey Smith, John M. Starr, Diana Kuh, Ian N.M. Day, and the HALCyon study team

Institutions: University of Bristol, MRC Unit for Lifelong Health and Ageing, University College London, University of Oxford, MRC Lifecourse Epidemiology Unit, University of Southampton, University of Edinburgh, University of Glasgow, Southampton General Hospital

Language: English

Topic: Genetics and Physical Performance

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Wellcome Trust, National Institute for Health and Care Research, British Heart Foundation, University of Edinburgh, University of Bristol, Versus Arthritis, Centre for Cognitive Ageing and Cognitive Epidemiology, National Institutes of Health, Directorate for Biological Sciences, Medical Research Council, Engineering and Physical Sciences Research Council, Biotechnology and Biological Sciences Research Council, Economic and Social Research Council, World Cancer Research Fund, National Institute on Aging, Eurostars

OpenAlex ID: W2136683218