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COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby

Shane Heffernan Orcid Logo, Liam Kilduff Orcid Logo, Robert M. Erskine, Stephen H. Day, Georgina K. Stebbings, Christian J. Cook, Stuart M. Raleigh, Mark A. Bennett, Guan Wang, Malcolm Collins, Yannis P. Pitsiladis, Alun G. Williams

BMC Genomics, Volume: 18, Issue: S8

Swansea University Authors: Shane Heffernan Orcid Logo, Liam Kilduff Orcid Logo

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DOI (Published version): 10.1186/s12864-017-4187-3

Abstract

BackgroundTwo 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 wou...

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Published in: BMC Genomics
ISSN: 1471-2164
Published: 2017
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URI: https://cronfa.swan.ac.uk/Record/cronfa32970
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fullrecord <?xml version="1.0"?><rfc1807><datestamp>2020-07-15T12:35:58.6334519</datestamp><bib-version>v2</bib-version><id>32970</id><entry>2017-04-10</entry><title>COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby</title><swanseaauthors><author><sid>72c0b36891dfbec0378c0d0f7916e807</sid><ORCID>0000-0002-3297-9335</ORCID><firstname>Shane</firstname><surname>Heffernan</surname><name>Shane Heffernan</name><active>true</active><ethesisStudent>false</ethesisStudent></author><author><sid>972ed9a1dda7a0de20581a0f8350be98</sid><ORCID>0000-0001-9449-2293</ORCID><firstname>Liam</firstname><surname>Kilduff</surname><name>Liam Kilduff</name><active>true</active><ethesisStudent>false</ethesisStudent></author></swanseaauthors><date>2017-04-10</date><deptcode>STSC</deptcode><abstract>BackgroundTwo 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.ResultsIn 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 &#x2264; 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 &#x2264; 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&#x2013;CC SNP-SNP combination and C&#x2013;C inferred allele combination were higher in all the athlete groups (&#x2265;18% and &#x2265;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.ConclusionIt 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.</abstract><type>Journal Article</type><journal>BMC Genomics</journal><volume>18</volume><journalNumber>S8</journalNumber><publisher/><issnElectronic>1471-2164</issnElectronic><keywords/><publishedDay>14</publishedDay><publishedMonth>11</publishedMonth><publishedYear>2017</publishedYear><publishedDate>2017-11-14</publishedDate><doi>10.1186/s12864-017-4187-3</doi><url/><notes/><college>COLLEGE NANME</college><department>Sport and Exercise Sciences</department><CollegeCode>COLLEGE CODE</CollegeCode><DepartmentCode>STSC</DepartmentCode><institution>Swansea University</institution><apcterm/><lastEdited>2020-07-15T12:35:58.6334519</lastEdited><Created>2017-04-10T09:39:07.0375331</Created><authors><author><firstname>Shane</firstname><surname>Heffernan</surname><orcid>0000-0002-3297-9335</orcid><order>1</order></author><author><firstname>Liam</firstname><surname>Kilduff</surname><orcid>0000-0001-9449-2293</orcid><order>2</order></author><author><firstname>Robert M.</firstname><surname>Erskine</surname><order>3</order></author><author><firstname>Stephen H.</firstname><surname>Day</surname><order>4</order></author><author><firstname>Georgina K.</firstname><surname>Stebbings</surname><order>5</order></author><author><firstname>Christian J.</firstname><surname>Cook</surname><order>6</order></author><author><firstname>Stuart M.</firstname><surname>Raleigh</surname><order>7</order></author><author><firstname>Mark A.</firstname><surname>Bennett</surname><order>8</order></author><author><firstname>Guan</firstname><surname>Wang</surname><order>9</order></author><author><firstname>Malcolm</firstname><surname>Collins</surname><order>10</order></author><author><firstname>Yannis P.</firstname><surname>Pitsiladis</surname><order>11</order></author><author><firstname>Alun G.</firstname><surname>Williams</surname><order>12</order></author></authors><documents><document><filename>0032970-16012018170851.pdf</filename><originalFilename>Kilduff.pdf</originalFilename><uploaded>2018-01-16T17:08:51.0930000</uploaded><type>Output</type><contentLength>430723</contentLength><contentType>application/pdf</contentType><version>Version of Record</version><cronfaStatus>true</cronfaStatus><embargoDate>2018-01-16T00:00:00.0000000</embargoDate><documentNotes>Released under the terms of a Creative Commons Attribution 4.0 International License (CC-BY).</documentNotes><copyrightCorrect>true</copyrightCorrect><language>eng</language></document></documents><OutputDurs/></rfc1807>
spelling 2020-07-15T12:35:58.6334519 v2 32970 2017-04-10 COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby 72c0b36891dfbec0378c0d0f7916e807 0000-0002-3297-9335 Shane Heffernan Shane Heffernan true false 972ed9a1dda7a0de20581a0f8350be98 0000-0001-9449-2293 Liam Kilduff Liam Kilduff true false 2017-04-10 STSC BackgroundTwo 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.ResultsIn 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.ConclusionIt 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. Journal Article BMC Genomics 18 S8 1471-2164 14 11 2017 2017-11-14 10.1186/s12864-017-4187-3 COLLEGE NANME Sport and Exercise Sciences COLLEGE CODE STSC Swansea University 2020-07-15T12:35:58.6334519 2017-04-10T09:39:07.0375331 Shane Heffernan 0000-0002-3297-9335 1 Liam Kilduff 0000-0001-9449-2293 2 Robert M. Erskine 3 Stephen H. Day 4 Georgina K. Stebbings 5 Christian J. Cook 6 Stuart M. Raleigh 7 Mark A. Bennett 8 Guan Wang 9 Malcolm Collins 10 Yannis P. Pitsiladis 11 Alun G. Williams 12 0032970-16012018170851.pdf Kilduff.pdf 2018-01-16T17:08:51.0930000 Output 430723 application/pdf Version of Record true 2018-01-16T00:00:00.0000000 Released under the terms of a Creative Commons Attribution 4.0 International License (CC-BY). true eng
title COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby
spellingShingle COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby
Shane Heffernan
Liam Kilduff
title_short COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby
title_full COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby
title_fullStr COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby
title_full_unstemmed COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby
title_sort COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby
author_id_str_mv 72c0b36891dfbec0378c0d0f7916e807
972ed9a1dda7a0de20581a0f8350be98
author_id_fullname_str_mv 72c0b36891dfbec0378c0d0f7916e807_***_Shane Heffernan
972ed9a1dda7a0de20581a0f8350be98_***_Liam Kilduff
author Shane Heffernan
Liam Kilduff
author2 Shane Heffernan
Liam Kilduff
Robert M. Erskine
Stephen H. Day
Georgina K. Stebbings
Christian J. Cook
Stuart M. Raleigh
Mark A. Bennett
Guan Wang
Malcolm Collins
Yannis P. Pitsiladis
Alun G. Williams
format Journal article
container_title BMC Genomics
container_volume 18
container_issue S8
publishDate 2017
institution Swansea University
issn 1471-2164
doi_str_mv 10.1186/s12864-017-4187-3
document_store_str 1
active_str 0
description BackgroundTwo 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.ResultsIn 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.ConclusionIt 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.
published_date 2017-11-14T03:40:34Z
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score 11.036815

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