title: 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.
authors.affiliation: School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom. tamuno.alfred@bristol.ac.uk
authors.forename: Tamuno
authors.initials: T
authors.lastname: Alfred
authors.forename: Yoav
authors.initials: Y
authors.lastname: Ben-Shlomo
authors.forename: Rachel
authors.initials: R
authors.lastname: Cooper
authors.forename: Rebecca
authors.initials: R
authors.lastname: Hardy
authors.forename: Cyrus
authors.initials: C
authors.lastname: Cooper
authors.forename: Ian J
authors.initials: IJ
authors.lastname: Deary
authors.forename: David
authors.initials: D
authors.lastname: Gunnell
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Harris
authors.forename: Meena
authors.initials: M
authors.lastname: Kumari
authors.forename: Richard M
authors.initials: RM
authors.lastname: Martin
authors.forename: Colin N
authors.initials: CN
authors.lastname: Moran
authors.forename: Yannis P
authors.initials: YP
authors.lastname: Pitsiladis
authors.forename: Susan M
authors.initials: SM
authors.lastname: Ring
authors.forename: Avan Aihie
authors.initials: AA
authors.lastname: Sayer
authors.forename: George Davey
authors.initials: GD
authors.lastname: Smith
authors.forename: John M
authors.initials: JM
authors.lastname: Starr
authors.forename: Diana
authors.initials: D
authors.lastname: Kuh
authors.forename: Ian N M
authors.initials: IN
authors.lastname: Day
mesh_terms: D000185:Actinin / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D056352:Athletes; D002648:Child; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010807:Physical Endurance / Q000235:genetics*; D055815:Young Adult
chemical_list: C118456:ACTN3 protein, human; D000185:Actinin