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Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes

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

Genes, Volume: 13, Issue: 5, Start page: 820

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

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DOI (Published version): 10.3390/genes13050820

Abstract

Due to the high-velocity collision-based nature of elite rugby league and union, the risk of sus-taining a concussion is high. Occurrence of and outcomes following a concussion are probably affected by the interaction of multiple genes in a polygenic manner. This study investigated whether suspected...

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Published in: Genes
ISSN: 2073-4425
Published: MDPI AG 2022
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URI: https://cronfa.swan.ac.uk/Record/cronfa59926
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Occurrence of and outcomes following a concussion are probably affected by the interaction of multiple genes in a polygenic manner. This study investigated whether suspected concussion-associated polygenic profiles of elite rugby athletes differed from non-athletes and between rugby union forwards and backs. We hypothesised that a total genotype score (TGS) using eight concussion-associated polymorphisms would be higher in elite rugby athletes than non-athletes, indicating selection for protection against incurring or suffering pro-longed effects of, concussion in the relatively high-risk environment of competitive rugby. In addition, multifactor dimensionality reduction was used to identify genetic interactions. Contrary to our hypothesis, TGS did not differ between elite rugby athletes and non-athletes (p &#x2265; 0.065), nor between rugby union forwards and backs (p = 0.668). Accordingly, the TGS could not discriminate between elite rugby athletes and non-athletes (AUC ~0.5), suggesting that, for the eight poly-morphisms investigated, elite rugby athletes do not have a more &#x2018;preferable&#x2019; concus-sion-associated polygenic profile than non-athletes. However, the COMT (rs4680) and MAPT (rs10445337) GC allele combination was more common in rugby athletes (31.7%; p &lt; 0.001) and rugby union athletes (31.8%; p &lt; 0.001) than non-athletes (24.5%). Our results thus suggest a genetic interaction between COMT (rs4680) and MAPT (rs10445337) assists rugby athletes in achieving elite status. 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spelling 2022-10-31T12:58:48.6328013 v2 59926 2022-04-29 Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes 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 050a482b2c9699d25870b9c591541998 Alun Williams Alun Williams true false 2022-04-29 STSC Due to the high-velocity collision-based nature of elite rugby league and union, the risk of sus-taining a concussion is high. Occurrence of and outcomes following a concussion are probably affected by the interaction of multiple genes in a polygenic manner. This study investigated whether suspected concussion-associated polygenic profiles of elite rugby athletes differed from non-athletes and between rugby union forwards and backs. We hypothesised that a total genotype score (TGS) using eight concussion-associated polymorphisms would be higher in elite rugby athletes than non-athletes, indicating selection for protection against incurring or suffering pro-longed effects of, concussion in the relatively high-risk environment of competitive rugby. In addition, multifactor dimensionality reduction was used to identify genetic interactions. Contrary to our hypothesis, TGS did not differ between elite rugby athletes and non-athletes (p ≥ 0.065), nor between rugby union forwards and backs (p = 0.668). Accordingly, the TGS could not discriminate between elite rugby athletes and non-athletes (AUC ~0.5), suggesting that, for the eight poly-morphisms investigated, elite rugby athletes do not have a more ‘preferable’ concus-sion-associated polygenic profile than non-athletes. However, the COMT (rs4680) and MAPT (rs10445337) GC allele combination was more common in rugby athletes (31.7%; p < 0.001) and rugby union athletes (31.8%; p < 0.001) than non-athletes (24.5%). Our results thus suggest a genetic interaction between COMT (rs4680) and MAPT (rs10445337) assists rugby athletes in achieving elite status. These findings need exploration vis-à-vis sport-related concussion injury data and could have implications for the management of inter-individual differences in concussion risk. Journal Article Genes 13 5 820 MDPI AG 2073-4425 rugby; genotype; concussion; brain; polymorphism; genetics 4 5 2022 2022-05-04 10.3390/genes13050820 COLLEGE NANME Sport and Exercise Sciences COLLEGE CODE STSC Swansea University This research received no external funding. The APC was funded by the University of Northampton 2022-10-31T12:58:48.6328013 2022-04-29T15:05:34.1541344 Faculty of Science and Engineering School of Aerospace, Civil, Electrical, General and Mechanical Engineering - Sport and Exercise Sciences Mark R. Antrobus 0000-0002-4229-6888 1 Jon Brazier 0000-0002-4104-9447 2 Peter C. Callus 3 Adam J. Herbert 0000-0001-8964-0087 4 Georgina K. Stebbings 0000-0003-0706-2864 5 Praval Khanal 0000-0003-2060-8446 6 Stephen H. Day 0000-0003-2020-0432 7 Liam Kilduff 0000-0001-9449-2293 8 Mark Bennett 9 Robert M. Erskine 0000-0002-5705-0207 10 Stuart M. Raleigh 11 Malcolm Collins 0000-0002-2564-0480 12 Yannis P. Pitsiladis 0000-0001-6210-2449 13 Shane Heffernan 0000-0002-3297-9335 14 Alun Williams 15 59926__24236__d8539829e4144317823883c4743d2be0.pdf 59926.pdf 2022-06-06T16:01:20.7150071 Output 1222907 application/pdf Version of Record true © 2022 by the authors. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license true eng https://creativecommons.org/licenses/by/4.0/
title Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes
spellingShingle Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes
Liam Kilduff
Mark Bennett
Shane Heffernan
Alun Williams
title_short Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes
title_full Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes
title_fullStr Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes
title_full_unstemmed Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes
title_sort Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes
author_id_str_mv 972ed9a1dda7a0de20581a0f8350be98
bd632dd19f7ba6391670f261d0a5a242
72c0b36891dfbec0378c0d0f7916e807
050a482b2c9699d25870b9c591541998
author_id_fullname_str_mv 972ed9a1dda7a0de20581a0f8350be98_***_Liam Kilduff
bd632dd19f7ba6391670f261d0a5a242_***_Mark Bennett
72c0b36891dfbec0378c0d0f7916e807_***_Shane Heffernan
050a482b2c9699d25870b9c591541998_***_Alun Williams
author Liam Kilduff
Mark Bennett
Shane Heffernan
Alun Williams
author2 Mark R. Antrobus
Jon Brazier
Peter C. Callus
Adam J. Herbert
Georgina K. Stebbings
Praval Khanal
Stephen H. Day
Liam Kilduff
Mark Bennett
Robert M. Erskine
Stuart M. Raleigh
Malcolm Collins
Yannis P. Pitsiladis
Shane Heffernan
Alun Williams
format Journal article
container_title Genes
container_volume 13
container_issue 5
container_start_page 820
publishDate 2022
institution Swansea University
issn 2073-4425
doi_str_mv 10.3390/genes13050820
publisher MDPI AG
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
department_str School of Aerospace, Civil, Electrical, General and Mechanical Engineering - Sport and Exercise Sciences{{{_:::_}}}Faculty of Science and Engineering{{{_:::_}}}School of Aerospace, Civil, Electrical, General and Mechanical Engineering - Sport and Exercise Sciences
document_store_str 1
active_str 0
description Due to the high-velocity collision-based nature of elite rugby league and union, the risk of sus-taining a concussion is high. Occurrence of and outcomes following a concussion are probably affected by the interaction of multiple genes in a polygenic manner. This study investigated whether suspected concussion-associated polygenic profiles of elite rugby athletes differed from non-athletes and between rugby union forwards and backs. We hypothesised that a total genotype score (TGS) using eight concussion-associated polymorphisms would be higher in elite rugby athletes than non-athletes, indicating selection for protection against incurring or suffering pro-longed effects of, concussion in the relatively high-risk environment of competitive rugby. In addition, multifactor dimensionality reduction was used to identify genetic interactions. Contrary to our hypothesis, TGS did not differ between elite rugby athletes and non-athletes (p ≥ 0.065), nor between rugby union forwards and backs (p = 0.668). Accordingly, the TGS could not discriminate between elite rugby athletes and non-athletes (AUC ~0.5), suggesting that, for the eight poly-morphisms investigated, elite rugby athletes do not have a more ‘preferable’ concus-sion-associated polygenic profile than non-athletes. However, the COMT (rs4680) and MAPT (rs10445337) GC allele combination was more common in rugby athletes (31.7%; p < 0.001) and rugby union athletes (31.8%; p < 0.001) than non-athletes (24.5%). Our results thus suggest a genetic interaction between COMT (rs4680) and MAPT (rs10445337) assists rugby athletes in achieving elite status. These findings need exploration vis-à-vis sport-related concussion injury data and could have implications for the management of inter-individual differences in concussion risk.
published_date 2022-05-04T04:17:36Z
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