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Appears in Collections:Faculty of Health Sciences and Sport Journal Articles
Peer Review Status: Refereed
Title: ACTN3 Genotype, Athletic Status, and Life Course Physical Capability: Meta-Analysis of the Published Literature and Findings from Nine Studies
Author(s): Alfred, Tamuno
Ben-Shlomo, Yoav
Cooper, Rachel
Hardy, Rebecca
Cooper, Cyrus
Deary, Ian
Gunnell, David
Harris, Sarah E
Kumari, Meena
Martin, Richard M
Moran, Colin Neil
Pitsiladis, Yannis P
Ring, Susan M
Sayer, Avan Aihie
Smith, George Davey
Starr, John M
Kuh, Diana
Day, Ian N M
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Keywords: ACTN3
grip strength
Issue Date: Sep-2011
Date Deposited: 17-May-2013
Citation: Alfred T, Ben-Shlomo Y, Cooper R, Hardy R, Cooper C, Deary I, Gunnell D, Harris SE, Kumari M, Martin RM, Moran CN, Pitsiladis YP, Ring SM, Sayer AA, Smith GD, Starr JM, Kuh D & Day INM (2011) ACTN3 Genotype, Athletic Status, and Life Course Physical Capability: Meta-Analysis of the Published Literature and Findings from Nine Studies. Human Mutation, 32 (9), pp. 1008-1018.
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.
DOI Link: 10.1002/humu.21526
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Notes: Also authored by the HALCyon study team
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