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Genomic profile in association with sport-type, sex, ethnicity, psychological traits and sport injuries of elite athletes: review and future perspectives

2021-03-05Journal article Restricted access
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dc.contributor.authorSilva, Hugo-Henrique
dc.contributor.authorSilva, Maria Raquel
dc.contributor.authorCerqueira, Fátima
dc.contributor.authorTavares, Valéria
dc.contributor.authormedeiros, rm
dc.date.accessioned2021-07-15T16:33:52Z
dc.date.available2021-07-15T16:33:52Z
dc.date.issued2021-03-05
dc.description.abstractIn the last few years, some inherited determinants have been associated with elite athletic performance, but its polygenic trait character has limited the correct definition of elite athlete's genomic profile. This qualitative descriptive study aims to summarise the current understanding about genetic and epigenetic factors in elite athletes, as well as their genomic profile in association with sport-type, sex, ethnicity, psychological traits and sport injuries. A narrative review of the literature across a broad cross-section of the elite athletes' genomic profile was undertaken. Elite performance relies on rare gene variants within a great interface between molecular, cellular and behavioural sport-related phenotypes and the environment, which is still poorly understood. ACTN3 rs1815739 and ACE I/D polymorphisms appear to be associated to specific sprint phenotypes and influence the athletic status, i.e., the rs1815739 variant is more influential to 200-m performance and the ACE ID polymorphism is more involved in the longer, 400-m sprint performance. Generally, athletes show endurance-based sports characteristics or power-based sports characteristics, but some studies have reported some genes associations to both sports-based characteristics. Furthermore, genetic studies with larger cohorts of single-sport athletes might be preferable than studies combining athletes of different sports, given the existence of distinct athlete profiles and sport demands. Athletic performance may be influenced by the serotonergic pathway and the potential injury risk (namely stress fracture) might be associated to a genetic predisposition associated to the mechanical loading from the intense physical exercise. The study of gene variants associated to sex and ethnicity-related to athletic performance needs further investigation. The combination of genome-wide association studies addressing the genetic architecture of athletes and the subsequent replication and validation studies might for additional genetic data is mandatory.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.doi10.23736/S0022-4707.21.12020-1pt_PT
dc.identifier.issn0022-4707
dc.identifier.urihttp://hdl.handle.net/10284/10099
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherEdizioni Minerva Medicapt_PT
dc.subjectElite athletept_PT
dc.subjectGeneticspt_PT
dc.subjectGenept_PT
dc.subjectEpigeneticspt_PT
dc.subjectSportpt_PT
dc.titleGenomic profile in association with sport-type, sex, ethnicity, psychological traits and sport injuries of elite athletes: review and future perspectivespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.titleThe Journal of sports medicine and physical fitnesspt_PT
person.familyNameSilva
person.familyNameCerqueira
person.familyNameMedeiros
person.givenNameMaria Raquel
person.givenNameFátima
person.givenNameRui
person.identifier812695
person.identifier37604
person.identifier.ciencia-id2518-6117-FB25
person.identifier.ciencia-idCF14-52ED-5DA0
person.identifier.ciencia-idC51F-5DBE-9C51
person.identifier.orcid0000-0001-8170-3119
person.identifier.orcid0000-0003-4513-4654
person.identifier.orcid0000-0003-3010-8373
person.identifier.ridM-7557-2013
person.identifier.ridC-7938-2009
person.identifier.scopus-author-id56924197900
person.identifier.scopus-author-id6603346911
person.identifier.scopus-author-id7006241641
rcaap.rightsclosedAccesspt_PT
rcaap.typearticlept_PT
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relation.isAuthorOfPublication2705e35c-97f6-4de2-bbf1-d680342760e9
relation.isAuthorOfPublication5ffb7965-d9af-4ba1-a81b-b0aed28de206
relation.isAuthorOfPublication.latestForDiscovery2705e35c-97f6-4de2-bbf1-d680342760e9

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