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

ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies
ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies
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.
actn3, actinin-3, athlete, aging, snp, grip strength
1059-7794
1008-1018
Alfred, Tamuno
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Ben-Shlomo, Yoav
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Cooper, Rachel
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Hardy, Reecca
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Cooper, Cyrus
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Deary, Ian J.
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Gunnell, David
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Harris, Sarah E.
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Kumari, Meena
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Martin, Richard M.
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Moran, Colin N.
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Pitsiladis, Yannis P,
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Ring, Susan M.
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Sayer, Avan Aihie
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Smith, George Davey
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Starr, John M.
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Kuh, Diana
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Day, Ian N.M.
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Alfred, Tamuno
a74abf26-a2cf-4a0d-9abf-6e9507cfad7a
Ben-Shlomo, Yoav
df80bd02-a908-4296-b293-825d42203729
Cooper, Rachel
24a4a55a-ccc1-4961-9b76-b89aa4eb2fdf
Hardy, Reecca
632fb325-da6e-4a0a-bf10-8496de8f47a0
Cooper, Cyrus
e05f5612-b493-4273-9b71-9e0ce32bdad6
Deary, Ian J.
027158ae-fbfb-40ea-98b1-32d2690499ac
Gunnell, David
d525f7e5-7447-43c8-84b7-a122b60b3c54
Harris, Sarah E.
925adc32-c478-44a2-84c0-1c7eefa8dfc8
Kumari, Meena
fc42bd66-3f7c-4f72-8f7b-d9cb40900b3d
Martin, Richard M.
ce5c4184-4432-4435-bd1e-221f665d42d8
Moran, Colin N.
23d9b29a-d7bb-4ee1-b6b3-8676808185e4
Pitsiladis, Yannis P,
a77f6ffd-2b9b-46f5-bb13-d4178f927d11
Ring, Susan M.
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Sayer, Avan Aihie
fb4c2053-6d51-4fc1-9489-c3cb431b0ffb
Smith, George Davey
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Starr, John M.
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Kuh, Diana
4f3b51aa-21a0-4d68-be14-e1ed75448aaf
Day, Ian N.M.
b749b30a-1f4c-40eb-af0e-a50427388b39

Alfred, Tamuno, Ben-Shlomo, Yoav, Cooper, Rachel, Hardy, Reecca, Cooper, Cyrus, Deary, Ian J., Gunnell, David, Harris, Sarah E., Kumari, Meena, Martin, Richard M., Moran, Colin N., Pitsiladis, Yannis P,, Ring, Susan M., Sayer, Avan Aihie, Smith, George Davey, Starr, John M., Kuh, Diana and Day, Ian N.M. (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), 1008-1018. (doi:10.1002/humu.21526). (PMID:21542061)

Record type: Article

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.

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e-pub ahead of print date: 20 July 2011
Published date: September 2011
Keywords: actn3, actinin-3, athlete, aging, snp, grip strength
Organisations: Faculty of Health Sciences

Identifiers

Local EPrints ID: 355118
URI: https://eprints.soton.ac.uk/id/eprint/355118
ISSN: 1059-7794
PURE UUID: d8ba71cc-503e-4e86-aa1b-2501279f75dc
ORCID for Cyrus Cooper: ORCID iD orcid.org/0000-0003-3510-0709

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Date deposited: 07 Aug 2013 11:17
Last modified: 20 Dec 2018 01:35

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Contributors

Author: Tamuno Alfred
Author: Yoav Ben-Shlomo
Author: Rachel Cooper
Author: Reecca Hardy
Author: Cyrus Cooper ORCID iD
Author: Ian J. Deary
Author: David Gunnell
Author: Sarah E. Harris
Author: Meena Kumari
Author: Richard M. Martin
Author: Colin N. Moran
Author: Yannis P, Pitsiladis
Author: Susan M. Ring
Author: George Davey Smith
Author: John M. Starr
Author: Diana Kuh
Author: Ian N.M. Day

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