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Concussion-Associated Gene Variant COMT rs4680 Is Associated With Elite Rugby Athlete Status

Mark R. Antrobus, Jon Brazier, Peter Callus, Adam J. Herbert, Georgina K. Stebbings, Stephen H. Day, Liam Kilduff Orcid Logo, Mark Bennett, Robert M. Erskine, Stuart M. Raleigh, Malcolm Collins, Yannis P. Pitsiladis, Shane Heffernan Orcid Logo, Alun G. Williams

Clinical Journal of Sport Medicine, Volume: 33, Issue: 5

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

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Abstract

Objective: Concussions are common match injuries in elite rugby and reports exist of reduced cognitive function and long-term health consequences that can interrupt or end a playing career and produce continued ill health. The aim of this study was to investigate the association between elite rugby...

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Published in: Clinical Journal of Sport Medicine
ISSN: 1050-642X
Published: Ovid Technologies (Wolters Kluwer Health) 2023
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URI: https://cronfa.swan.ac.uk/Record/cronfa59448
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The aim of this study was to investigate the association between elite rugby status and eight concussion-associated risk polymorphisms. We hypothesized that concussion-associated risk genotypes and alleles would be underrepresented in elite rugby athletes compared to non-athletes. Design: A case-control genetic association study. Setting: Institutional (university). Participants: Elite Caucasian male rugby athletes (n = 668, mean (standard deviation) height 1.85 (0.07) m, mass 102 (12) kg, age 29 (7) yr) and 1015 non-athlete Caucasian men and women (48% men). Interventions: Genotype was the independent variable, obtained via PCR of genomic DNA using TaqMan probes. Main Outcome Measure: Elite athlete status, with groups compared using χ2 and odds ratio. Results: The COMT rs4680 Met/Met (AA) genotype, Met allele possession and Met allele frequency were lower in rugby athletes (24.8%, 74.6% and 49.7%, respectively) than non-athletes (30.2%, 77.6%, and 54.0%; P &lt; 0.05). The Val/Val (GG) genotype was more common in elite rugby athletes than non-athletes (odds ratio 1.39, 95% confidence interval 1.04-1.86). No other polymorphism was associated with elite athlete status. Conclusions: Elite rugby athlete status is associated with COMT rs4680 genotype that, acting pleiotropically, could affect stress resilience and behavioral traits during competition, concussion risk and/or recovery from concussion. Consequently, assessing COMT rs4680 genotype might aid future individualized management of concussion risk amongst athletes.</abstract><type>Journal Article</type><journal>Clinical Journal of Sport Medicine</journal><volume>33</volume><journalNumber>5</journalNumber><paginationStart/><paginationEnd/><publisher>Ovid Technologies (Wolters Kluwer Health)</publisher><placeOfPublication/><isbnPrint/><isbnElectronic/><issnPrint>1050-642X</issnPrint><issnElectronic/><keywords>Rugby, genetics, concussion, brain, polymorphism, behavior</keywords><publishedDay>1</publishedDay><publishedMonth>9</publishedMonth><publishedYear>2023</publishedYear><publishedDate>2023-09-01</publishedDate><doi>10.1097/jsm.0000000000001030</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/><funders/><projectreference/><lastEdited>2023-09-13T11:22:10.0115684</lastEdited><Created>2022-02-24T10:08:05.1021143</Created><path><level id="1">Faculty of Science and Engineering</level><level id="2"/></path><authors><author><firstname>Mark R.</firstname><surname>Antrobus</surname><order>1</order></author><author><firstname>Jon</firstname><surname>Brazier</surname><order>2</order></author><author><firstname>Peter</firstname><surname>Callus</surname><order>3</order></author><author><firstname>Adam J.</firstname><surname>Herbert</surname><order>4</order></author><author><firstname>Georgina K.</firstname><surname>Stebbings</surname><order>5</order></author><author><firstname>Stephen H.</firstname><surname>Day</surname><order>6</order></author><author><firstname>Liam</firstname><surname>Kilduff</surname><orcid>0000-0001-9449-2293</orcid><order>7</order></author><author><firstname>Mark</firstname><surname>Bennett</surname><order>8</order></author><author><firstname>Robert M.</firstname><surname>Erskine</surname><order>9</order></author><author><firstname>Stuart M.</firstname><surname>Raleigh</surname><order>10</order></author><author><firstname>Malcolm</firstname><surname>Collins</surname><order>11</order></author><author><firstname>Yannis P.</firstname><surname>Pitsiladis</surname><order>12</order></author><author><firstname>Shane</firstname><surname>Heffernan</surname><orcid>0000-0002-3297-9335</orcid><order>13</order></author><author><firstname>Alun G.</firstname><surname>Williams</surname><order>14</order></author></authors><documents><document><filename>59448__22451__82a844077db148dea534b4f82c2c9e35.pdf</filename><originalFilename>59448.pdf</originalFilename><uploaded>2022-02-24T10:13:09.5960058</uploaded><type>Output</type><contentLength>499223</contentLength><contentType>application/pdf</contentType><version>Accepted Manuscript</version><cronfaStatus>true</cronfaStatus><embargoDate>2023-03-29T00:00:00.0000000</embargoDate><documentNotes>Distributed under the terms of a Creative Commons Attribution Non Commercial 4.0 License (CC BY-NC 4.0).</documentNotes><copyrightCorrect>true</copyrightCorrect><language>eng</language><licence>https://creativecommons.org/licenses/by-nc/4.0/</licence></document></documents><OutputDurs/></rfc1807>
spelling v2 59448 2022-02-24 Concussion-Associated Gene Variant COMT rs4680 Is Associated With Elite Rugby Athlete Status 972ed9a1dda7a0de20581a0f8350be98 0000-0001-9449-2293 Liam Kilduff Liam Kilduff true false bd632dd19f7ba6391670f261d0a5a242 Mark Bennett Mark Bennett true false 72c0b36891dfbec0378c0d0f7916e807 0000-0002-3297-9335 Shane Heffernan Shane Heffernan true false 2022-02-24 STSC Objective: Concussions are common match injuries in elite rugby and reports exist of reduced cognitive function and long-term health consequences that can interrupt or end a playing career and produce continued ill health. The aim of this study was to investigate the association between elite rugby status and eight concussion-associated risk polymorphisms. We hypothesized that concussion-associated risk genotypes and alleles would be underrepresented in elite rugby athletes compared to non-athletes. Design: A case-control genetic association study. Setting: Institutional (university). Participants: Elite Caucasian male rugby athletes (n = 668, mean (standard deviation) height 1.85 (0.07) m, mass 102 (12) kg, age 29 (7) yr) and 1015 non-athlete Caucasian men and women (48% men). Interventions: Genotype was the independent variable, obtained via PCR of genomic DNA using TaqMan probes. Main Outcome Measure: Elite athlete status, with groups compared using χ2 and odds ratio. Results: The COMT rs4680 Met/Met (AA) genotype, Met allele possession and Met allele frequency were lower in rugby athletes (24.8%, 74.6% and 49.7%, respectively) than non-athletes (30.2%, 77.6%, and 54.0%; P < 0.05). The Val/Val (GG) genotype was more common in elite rugby athletes than non-athletes (odds ratio 1.39, 95% confidence interval 1.04-1.86). No other polymorphism was associated with elite athlete status. Conclusions: Elite rugby athlete status is associated with COMT rs4680 genotype that, acting pleiotropically, could affect stress resilience and behavioral traits during competition, concussion risk and/or recovery from concussion. Consequently, assessing COMT rs4680 genotype might aid future individualized management of concussion risk amongst athletes. Journal Article Clinical Journal of Sport Medicine 33 5 Ovid Technologies (Wolters Kluwer Health) 1050-642X Rugby, genetics, concussion, brain, polymorphism, behavior 1 9 2023 2023-09-01 10.1097/jsm.0000000000001030 COLLEGE NANME Sport and Exercise Sciences COLLEGE CODE STSC Swansea University 2023-09-13T11:22:10.0115684 2022-02-24T10:08:05.1021143 Faculty of Science and Engineering Mark R. Antrobus 1 Jon Brazier 2 Peter Callus 3 Adam J. Herbert 4 Georgina K. Stebbings 5 Stephen H. Day 6 Liam Kilduff 0000-0001-9449-2293 7 Mark Bennett 8 Robert M. Erskine 9 Stuart M. Raleigh 10 Malcolm Collins 11 Yannis P. Pitsiladis 12 Shane Heffernan 0000-0002-3297-9335 13 Alun G. Williams 14 59448__22451__82a844077db148dea534b4f82c2c9e35.pdf 59448.pdf 2022-02-24T10:13:09.5960058 Output 499223 application/pdf Accepted Manuscript true 2023-03-29T00:00:00.0000000 Distributed under the terms of a Creative Commons Attribution Non Commercial 4.0 License (CC BY-NC 4.0). true eng https://creativecommons.org/licenses/by-nc/4.0/
title Concussion-Associated Gene Variant COMT rs4680 Is Associated With Elite Rugby Athlete Status
spellingShingle Concussion-Associated Gene Variant COMT rs4680 Is Associated With Elite Rugby Athlete Status
Liam Kilduff
Mark Bennett
Shane Heffernan
title_short Concussion-Associated Gene Variant COMT rs4680 Is Associated With Elite Rugby Athlete Status
title_full Concussion-Associated Gene Variant COMT rs4680 Is Associated With Elite Rugby Athlete Status
title_fullStr Concussion-Associated Gene Variant COMT rs4680 Is Associated With Elite Rugby Athlete Status
title_full_unstemmed Concussion-Associated Gene Variant COMT rs4680 Is Associated With Elite Rugby Athlete Status
title_sort Concussion-Associated Gene Variant COMT rs4680 Is Associated With Elite Rugby Athlete Status
author_id_str_mv 972ed9a1dda7a0de20581a0f8350be98
bd632dd19f7ba6391670f261d0a5a242
72c0b36891dfbec0378c0d0f7916e807
author_id_fullname_str_mv 972ed9a1dda7a0de20581a0f8350be98_***_Liam Kilduff
bd632dd19f7ba6391670f261d0a5a242_***_Mark Bennett
72c0b36891dfbec0378c0d0f7916e807_***_Shane Heffernan
author Liam Kilduff
Mark Bennett
Shane Heffernan
author2 Mark R. Antrobus
Jon Brazier
Peter Callus
Adam J. Herbert
Georgina K. Stebbings
Stephen H. Day
Liam Kilduff
Mark Bennett
Robert M. Erskine
Stuart M. Raleigh
Malcolm Collins
Yannis P. Pitsiladis
Shane Heffernan
Alun G. Williams
format Journal article
container_title Clinical Journal of Sport Medicine
container_volume 33
container_issue 5
publishDate 2023
institution Swansea University
issn 1050-642X
doi_str_mv 10.1097/jsm.0000000000001030
publisher Ovid Technologies (Wolters Kluwer Health)
college_str Faculty of Science and Engineering
hierarchytype
hierarchy_top_id facultyofscienceandengineering
hierarchy_top_title Faculty of Science and Engineering
hierarchy_parent_id facultyofscienceandengineering
hierarchy_parent_title Faculty of Science and Engineering
document_store_str 1
active_str 0
description Objective: Concussions are common match injuries in elite rugby and reports exist of reduced cognitive function and long-term health consequences that can interrupt or end a playing career and produce continued ill health. The aim of this study was to investigate the association between elite rugby status and eight concussion-associated risk polymorphisms. We hypothesized that concussion-associated risk genotypes and alleles would be underrepresented in elite rugby athletes compared to non-athletes. Design: A case-control genetic association study. Setting: Institutional (university). Participants: Elite Caucasian male rugby athletes (n = 668, mean (standard deviation) height 1.85 (0.07) m, mass 102 (12) kg, age 29 (7) yr) and 1015 non-athlete Caucasian men and women (48% men). Interventions: Genotype was the independent variable, obtained via PCR of genomic DNA using TaqMan probes. Main Outcome Measure: Elite athlete status, with groups compared using χ2 and odds ratio. Results: The COMT rs4680 Met/Met (AA) genotype, Met allele possession and Met allele frequency were lower in rugby athletes (24.8%, 74.6% and 49.7%, respectively) than non-athletes (30.2%, 77.6%, and 54.0%; P < 0.05). The Val/Val (GG) genotype was more common in elite rugby athletes than non-athletes (odds ratio 1.39, 95% confidence interval 1.04-1.86). No other polymorphism was associated with elite athlete status. Conclusions: Elite rugby athlete status is associated with COMT rs4680 genotype that, acting pleiotropically, could affect stress resilience and behavioral traits during competition, concussion risk and/or recovery from concussion. Consequently, assessing COMT rs4680 genotype might aid future individualized management of concussion risk amongst athletes.
published_date 2023-09-01T11:22:11Z
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