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Gene variants previously associated with reduced soft-tissue injury risk: Part 2 – Polygenic associations with elite status in Rugby

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

European Journal of Sport Science, Volume: 23, Issue: 8, Pages: 1 - 10

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

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DOI (Published version): 10.1080/17461391.2022.2155877

Abstract

Part 1 of this genetic association series highlighted several genetic variants independently associated with elite status in rugby. However, it is highly likely that the genetic influence on elite status is polygenic due to the interaction of multiple genes. Therefore, the aim of the present study w...

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Published in: European Journal of Sport Science
ISSN: 1746-1391 1536-7290
Published: Informa UK Limited 2022
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spelling v2 62093 2022-11-30 Gene variants previously associated with reduced soft-tissue injury risk: Part 2 – Polygenic associations with elite 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 bd632dd19f7ba6391670f261d0a5a242 Mark Bennett Mark Bennett true false 050a482b2c9699d25870b9c591541998 Alun Williams Alun Williams true false 2022-11-30 STSC Part 1 of this genetic association series highlighted several genetic variants independently associated with elite status in rugby. However, it is highly likely that the genetic influence on elite status is polygenic due to the interaction of multiple genes. Therefore, the aim of the present study was to investigate whether polygenic profiles of elite rugby athletes differed from non-athletes utilising 13 genetic polymorphisms previously associated with tendon/ligament injury. Total genotype score (TGS) was calculated and multifactor dimensionality reduction (MDR) was used to calculate SNP-SNP epistasis interactions. Based on our elite rugby data from Part 1, mean TGS was significantly higher in elite rugby athletes (52.1 ± 10.7) than non-athletes (48.7 ± 10.8). There were more elite rugby athletes (54%) within the upper TGS quartile, and fewer (46%) within the lower quartile, compared to non-athletes (31% and 69%, respectively; P = 5·10-5), and the TGS was able to distinguish between elite rugby athletes and non-athletes (area under the curve = 0.59; 95% confidence interval 0.55-0.63; P = 9·10-7). Furthermore, MDR identified a three-SNP model of COL5A1 rs12722, COL5A1 rs3196378 and MIR608 rs4919510 that was best able to predict elite athlete status, with a greater frequency of the CC-CC-CC genotype combination in elite rugby athletes (9.8%) than non-athletes (5.3%). We propose that elite rugby athletes possess ‘preferable’ musculoskeletal soft-tissue injury-associated polygenic profiles that have helped them achieve success in the high injury risk environment of rugby. These data may, in future, have implications for the individual management of musculoskeletal soft-tissue injury. Journal Article European Journal of Sport Science 23 8 1 10 Informa UK Limited 1746-1391 1536-7290 Genetics, polygenic, elite status, ligament, tendon, rugby 26 12 2022 2022-12-26 10.1080/17461391.2022.2155877 COLLEGE NANME Sport and Exercise Sciences COLLEGE CODE STSC Swansea University The author(s) reported there is no funding associated with the work featured in this article. 2023-09-04T17:04:08.5335420 2022-11-30T13:07:54.2836179 Faculty of Science and Engineering Jon Brazier 0000-0002-4104-9447 1 Mark R. Antrobus 2 Adam J. Herbert 3 Peter C. Callus 4 Praval Khanal 5 Georgina K. Stebbings 6 Stephen H. Day 7 Shane Heffernan 0000-0002-3297-9335 8 Liam Kilduff 0000-0001-9449-2293 9 Mark Bennett 10 Robert M. Erskine 0000-0002-5705-0207 11 Stuart M. Raleigh 12 Malcolm Collins 13 Yannis P. Pitsiladis 14 Alun Williams 15 62093__26140__21864e3a3ec64e1ca39a89ac0c6a380e.pdf 62093.pdf 2022-12-29T13:17:28.7560194 Output 1723714 application/pdf Version of Record true © 2022 The Author(s). This is an Open Access article distributed under the terms of the Creative Commons Attribution License true eng http://creativecommons.org/licenses/by/4.0/
title Gene variants previously associated with reduced soft-tissue injury risk: Part 2 – Polygenic associations with elite status in Rugby
spellingShingle Gene variants previously associated with reduced soft-tissue injury risk: Part 2 – Polygenic associations with elite status in Rugby
Shane Heffernan
Liam Kilduff
Mark Bennett
Alun Williams
title_short Gene variants previously associated with reduced soft-tissue injury risk: Part 2 – Polygenic associations with elite status in Rugby
title_full Gene variants previously associated with reduced soft-tissue injury risk: Part 2 – Polygenic associations with elite status in Rugby
title_fullStr Gene variants previously associated with reduced soft-tissue injury risk: Part 2 – Polygenic associations with elite status in Rugby
title_full_unstemmed Gene variants previously associated with reduced soft-tissue injury risk: Part 2 – Polygenic associations with elite status in Rugby
title_sort Gene variants previously associated with reduced soft-tissue injury risk: Part 2 – Polygenic associations with elite status in Rugby
author_id_str_mv 72c0b36891dfbec0378c0d0f7916e807
972ed9a1dda7a0de20581a0f8350be98
bd632dd19f7ba6391670f261d0a5a242
050a482b2c9699d25870b9c591541998
author_id_fullname_str_mv 72c0b36891dfbec0378c0d0f7916e807_***_Shane Heffernan
972ed9a1dda7a0de20581a0f8350be98_***_Liam Kilduff
bd632dd19f7ba6391670f261d0a5a242_***_Mark Bennett
050a482b2c9699d25870b9c591541998_***_Alun Williams
author Shane Heffernan
Liam Kilduff
Mark Bennett
Alun Williams
author2 Jon Brazier
Mark R. Antrobus
Adam J. Herbert
Peter C. Callus
Praval Khanal
Georgina K. Stebbings
Stephen H. Day
Shane Heffernan
Liam Kilduff
Mark Bennett
Robert M. Erskine
Stuart M. Raleigh
Malcolm Collins
Yannis P. Pitsiladis
Alun Williams
format Journal article
container_title European Journal of Sport Science
container_volume 23
container_issue 8
container_start_page 1
publishDate 2022
institution Swansea University
issn 1746-1391
1536-7290
doi_str_mv 10.1080/17461391.2022.2155877
publisher Informa UK Limited
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 Part 1 of this genetic association series highlighted several genetic variants independently associated with elite status in rugby. However, it is highly likely that the genetic influence on elite status is polygenic due to the interaction of multiple genes. Therefore, the aim of the present study was to investigate whether polygenic profiles of elite rugby athletes differed from non-athletes utilising 13 genetic polymorphisms previously associated with tendon/ligament injury. Total genotype score (TGS) was calculated and multifactor dimensionality reduction (MDR) was used to calculate SNP-SNP epistasis interactions. Based on our elite rugby data from Part 1, mean TGS was significantly higher in elite rugby athletes (52.1 ± 10.7) than non-athletes (48.7 ± 10.8). There were more elite rugby athletes (54%) within the upper TGS quartile, and fewer (46%) within the lower quartile, compared to non-athletes (31% and 69%, respectively; P = 5·10-5), and the TGS was able to distinguish between elite rugby athletes and non-athletes (area under the curve = 0.59; 95% confidence interval 0.55-0.63; P = 9·10-7). Furthermore, MDR identified a three-SNP model of COL5A1 rs12722, COL5A1 rs3196378 and MIR608 rs4919510 that was best able to predict elite athlete status, with a greater frequency of the CC-CC-CC genotype combination in elite rugby athletes (9.8%) than non-athletes (5.3%). We propose that elite rugby athletes possess ‘preferable’ musculoskeletal soft-tissue injury-associated polygenic profiles that have helped them achieve success in the high injury risk environment of rugby. These data may, in future, have implications for the individual management of musculoskeletal soft-tissue injury.
published_date 2022-12-26T17:04:10Z
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