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dc.contributor.authorHeffernan, Shane M
dc.contributor.authorKilduff, Liam P
dc.contributor.authorErskine, Robert M
dc.contributor.authorDay, Stephen H
dc.contributor.authorStebbings, Georgina K
dc.contributor.authorCook, Christian J
dc.contributor.authorRaleigh, Stuart M
dc.contributor.authorBennett, Mark A
dc.contributor.authorWang, Guan
dc.contributor.authorCollins, Malcolm
dc.contributor.authorPitsiladis, Yannis P
dc.contributor.authorWilliams, Alun G
dc.date.accessioned2019-06-12T09:52:18Z
dc.date.available2019-06-12T09:52:18Z
dc.date.issued2017-11-14
dc.identifier.citationHeffernan, S. M., Kilduff, L. P., Erskine, R. M., Day, S. H., Stebbings, G. K., Cook, C. J., Raleigh, S. M., Bennett, M. A., Wang, G., Collins, M., Pitsiladis, Y. P. and Williams, A. G. (2017) COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby, BMC Genomics, 18(Suppl 8), p. 820.en
dc.identifier.issn1471-2156en
dc.identifier.doi10.1186/s12864-017-4187-3en
dc.identifier.urihttp://hdl.handle.net/2436/622437
dc.description.abstractBackground Two common single nucleotide polymorphisms within the COL5A1 gene (SNPs; rs12722 C/T and rs3196378 C/A) have previously been associated with tendon and ligament pathologies. Given the high incidence of tendon and ligament injuries in elite rugby athletes, we hypothesised that both SNPs would be associated with career success. Results In 1105 participants (RugbyGene project), comprising 460 elite rugby union (RU), 88 elite rugby league athletes and 565 non-athlete controls, DNA was collected and genotyped for the COL5A1 rs12722 and rs3196378 variants using real-time PCR. For rs12722, the injury-protective CC genotype and C allele were more common in all athletes (21% and 47%, respectively) and RU athletes (22% and 48%) than in controls (16% and 41%, P ≤ 0.01). For rs3196378, the CC genotype and C allele were overrepresented in all athletes (23% and 48%) and RU athletes (24% and 49%) compared with controls (16% and 41%, P ≤ 0.02). The CC genotype in particular was overrepresented in the back and centres (24%) compared with controls, with more than twice the odds (OR = 2.25, P = 0.006) of possessing the injury-protective CC genotype. Furthermore, when considering both SNPs simultaneously, the CC–CC SNP-SNP combination and C–C inferred allele combination were higher in all the athlete groups (≥18% and ≥43%) compared with controls (13% and 40%; P = 0.01). However, no genotype differences were identified for either SNP when RU playing positions were compared directly with each other. Conclusion It appears that the C alleles, CC genotypes and resulting combinations of both rs12722 and rs3196378 are beneficial for rugby athletes to achieve elite status and carriage of these variants may impart an inherited resistance against soft tissue injury, despite exposure to the high-risk environment of elite rugby. These data have implications for the management of inter-individual differences in injury risk amongst elite athletes.en
dc.description.sponsorshipThe present study was funded by Manchester Metropolitan University. Publication of this manuscript was supported by Manchester Metropolitan University.en
dc.formatapplication/PDFen
dc.languageen
dc.language.isoenen
dc.publisherSpringer Natureen
dc.relation.urlhttps://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-017-4187-3en
dc.subjectRugby unionen
dc.subjectRugby leagueen
dc.subjecttendonen
dc.subjectligamenten
dc.subjectgeneticsen
dc.titleCOL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugbyen
dc.typeJournal articleen
dc.identifier.eissn1471-2164
dc.identifier.journalBMC Genomicsen
dc.date.updated2019-06-04T08:13:49Z
dc.description.noteFrom 34th FIMS World Sports Medicine Congress Ljubljana, Slovenia. 29th September – 2nd October 2016
dc.date.accepted2017-11-01
rioxxterms.funderUniversity of Wolverhamptonen
rioxxterms.identifier.projectUOW120619SDen
rioxxterms.versionVoRen
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0/en
rioxxterms.licenseref.startdate2019-06-12en
dc.source.volume18
dc.source.issueS8
dc.source.beginpage820
dc.description.versionPublished version
refterms.dateFCD2019-06-12T09:51:32Z
refterms.versionFCDVoR
refterms.dateFOA2019-06-12T09:52:19Z


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