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ACTN3 Genotype is Associated with Human Elite Athletic Performance

Yang, Nan; MacArthur, Daniel; Gulbin, Jason; Hahn, Allan G; Beggs, Alan H; Easteal, Simon; North, Kathryn

Description

There is increasing evidence for strong genetic influences on athletic performance and for an evolutionary "trade-off" between performance traits for speed and endurance activities. We have recently demonstrated that the skeletal-muscle actin-binding protein α-actinin-3 is absent in 18% of healthy white individuals because of homozygosity for a common stop-codon polymorphism in the ACTN3 gene, R577X. α-Actinin-3 is specifically expressed in fast-twitch myofibers responsible for generating force...[Show more]

dc.contributor.authorYang, Nan
dc.contributor.authorMacArthur, Daniel
dc.contributor.authorGulbin, Jason
dc.contributor.authorHahn, Allan G
dc.contributor.authorBeggs, Alan H
dc.contributor.authorEasteal, Simon
dc.contributor.authorNorth, Kathryn
dc.date.accessioned2015-12-13T23:07:20Z
dc.identifier.issn0002-9297
dc.identifier.urihttp://hdl.handle.net/1885/86170
dc.description.abstractThere is increasing evidence for strong genetic influences on athletic performance and for an evolutionary "trade-off" between performance traits for speed and endurance activities. We have recently demonstrated that the skeletal-muscle actin-binding protein α-actinin-3 is absent in 18% of healthy white individuals because of homozygosity for a common stop-codon polymorphism in the ACTN3 gene, R577X. α-Actinin-3 is specifically expressed in fast-twitch myofibers responsible for generating force at high velocity. The absence of a disease phenotype secondary to α-actinin-3 deficiency is likely due to compensation by the homologous protein, α-actinin-2. However, the high degree of evolutionary conservation of ACTN3 suggests function(s) independent of ACTN2. Here, we demonstrate highly significant associations between ACTN3 genotype and athletic performance. Both male and female elite sprint athletes have significantly higher frequencies of the 577R allele than do controls. This suggests that the presence of α-actinin-3 has a beneficial effect on the function of skeletal muscle in generating forceful contractions at high velocity, and provides an evolutionary advantage because of increased sprint performance. There is also a genotype effect in female sprint and endurance athletes, with higher than expected numbers of 577RX heterozygotes among sprint athletes and lower than expected numbers among endurance athletes. The lack of a similar effect in males suggests that the ACTN3 genotype affects athletic performance differently in males and females. The differential effects in sprint and endurance athletes suggests that the R577X polymorphism may have been maintained in the human population by balancing natural selection.
dc.publisherUniversity of Chicago Press
dc.sourceAmerican Journal of Human Genetics
dc.subjectKeywords: actin binding protein; alpha actinin; alpha actinin 2; alpha actinin 3; unclassified drug; ACTN3 gene; article; athlete; controlled study; endurance; fast muscle; female; force; gene; gene expression; gene frequency; genetic polymorphism; genotype; homozy
dc.titleACTN3 Genotype is Associated with Human Elite Athletic Performance
dc.typeJournal article
local.description.notesImported from ARIES
local.description.refereedYes
local.identifier.citationvolume73
dc.date.issued2003
local.identifier.absfor110706 - Immunogenetics (incl. Genetic Immunology)
local.identifier.ariespublicationMigratedxPub14952
local.type.statusPublished Version
local.contributor.affiliationYang, Nan, Children's Hospital at Westmead
local.contributor.affiliationMacArthur, Daniel, Children's Hospital at Westmead
local.contributor.affiliationGulbin, Jason, Australian Institute of Sport
local.contributor.affiliationHahn, Allan G, Australian Institute of Sport
local.contributor.affiliationBeggs, Alan H, Boston Children's Hospital
local.contributor.affiliationEasteal, Simon, College of Medicine, Biology and Environment, ANU
local.contributor.affiliationNorth, Kathryn, University of Sydney
local.description.embargo2037-12-31
local.bibliographicCitation.issue3
local.bibliographicCitation.startpage627
local.bibliographicCitation.lastpage631
local.identifier.doi10.1086/377590
dc.date.updated2015-12-12T08:08:50Z
local.identifier.scopusID2-s2.0-0041385595
CollectionsANU Research Publications

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