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Gene variants previously associated with reduced soft tissue injury risk: Part 1 – independent associations with elite status in rugby

Jon Brazier Orcid Logo, Mark R. Antrobus, Adam J. Herbert, Peter C. Callus, 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: 5, Pages: 726 - 735

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

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DOI (Published version): 10.1080/17461391.2022.2053752

Abstract

There is growing evidence of genetic contributions to tendon and ligament pathologies. Given the high incidence and severity of tendon and ligament injuries in elite rugby, we studied whether 13 gene polymorphisms previously associated with tendon/ligament injury were associated with elite athlete s...

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Published in: European Journal of Sport Science
ISSN: 1746-1391 1536-7290
Published: Wiley 2023
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Given the high incidence and severity of tendon and ligament injuries in elite rugby, we studied whether 13 gene polymorphisms previously associated with tendon/ligament injury were associated with elite athlete status. Participants from the RugbyGene project were 663 elite Caucasian male rugby athletes (RA) (mean (standard deviation) height 1.85 (0.07) m, mass 101 (12) kg, age 29 (7) yr), including 558 rugby union athletes (RU) and 105 rugby league athletes. Non-athletes (NA) were 909 Caucasian men and women (56% female; height 1.70 (0.10) m, mass 72 (13) kg, age 41 (23) yr). Genotypes were determined using TaqMan probes and groups compared using Χ2 and odds ratio (OR). COLGALT1 rs8090 AA genotype was more frequent in RA (27%) than NA (23%; P = 0.006). COL3A1 rs1800255 A allele was more frequent in RA (26%) than NA (23%) due to a greater frequency of GA genotype (39% vs 33%). For MIR608 rs4919510, RA had 1.7 times the odds of carrying the CC genotype compared to NA. MMP3 rs591058 TT genotype was less common in RA (25.1%) than NA (31.2%; P &lt; 0.04). For NID1 rs4660148, RA had 1.6 times the odds of carrying the TT genotype compared to NA. It appears that elite rugby athletes have an inherited advantage that contributes to their elite status, possibly via resistance to soft tissue injury. 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spelling v2 65708 2024-02-27 Gene variants previously associated with reduced soft tissue injury risk: Part 1 – independent 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 2024-02-27 STSC There is growing evidence of genetic contributions to tendon and ligament pathologies. Given the high incidence and severity of tendon and ligament injuries in elite rugby, we studied whether 13 gene polymorphisms previously associated with tendon/ligament injury were associated with elite athlete status. Participants from the RugbyGene project were 663 elite Caucasian male rugby athletes (RA) (mean (standard deviation) height 1.85 (0.07) m, mass 101 (12) kg, age 29 (7) yr), including 558 rugby union athletes (RU) and 105 rugby league athletes. Non-athletes (NA) were 909 Caucasian men and women (56% female; height 1.70 (0.10) m, mass 72 (13) kg, age 41 (23) yr). Genotypes were determined using TaqMan probes and groups compared using Χ2 and odds ratio (OR). COLGALT1 rs8090 AA genotype was more frequent in RA (27%) than NA (23%; P = 0.006). COL3A1 rs1800255 A allele was more frequent in RA (26%) than NA (23%) due to a greater frequency of GA genotype (39% vs 33%). For MIR608 rs4919510, RA had 1.7 times the odds of carrying the CC genotype compared to NA. MMP3 rs591058 TT genotype was less common in RA (25.1%) than NA (31.2%; P < 0.04). For NID1 rs4660148, RA had 1.6 times the odds of carrying the TT genotype compared to NA. It appears that elite rugby athletes have an inherited advantage that contributes to their elite status, possibly via resistance to soft tissue injury. These data may, in future, assist personalised management of injury risk amongst athletes.Highlights The elite rugby athletes we studied had differing genetic characteristics to non-athletes regarding genetic variants previously associated with soft-tissue injury risk.COLGALT1 rs8090, COL3A1 rs1800255, MIR608 rs4919510, MMP3 rs591058 and NID1 rs4660148 were all associated with elite status in rugby.We propose that elite rugby athletes might possess an inherited resistance to soft tissue injury, which has enabled them to achieve elite status despite exposure to the high-risk environment of elite rugby. Journal Article European Journal of Sport Science 23 5 726 735 Wiley 1746-1391 1536-7290 Genetics, ligament, rugby league, rugby union, tendon 1 5 2023 2023-05-01 10.1080/17461391.2022.2053752 COLLEGE NANME Sport and Exercise Sciences COLLEGE CODE STSC Swansea University Not Required The author(s) reported there is no funding associated with thework featured in this article. 2024-03-25T13:34:18.7724109 2024-02-27T09:23:47.3118298 Faculty of Science and Engineering School of Engineering and Applied Sciences - Sport and Exercise Sciences Jon Brazier 0000-0002-4104-9447 1 Mark R. Antrobus 2 Adam J. Herbert 3 Peter C. Callus 4 Georgina K. Stebbings 5 Stephen H. Day 6 Shane Heffernan 0000-0002-3297-9335 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 12 Yannis. P. Pitsiladis 13 Alun Williams 14 65708__29586__d3b3c20c7d2f479a9c9488bf6137fbfd.pdf 65708.pdf 2024-02-27T09:31:56.5055516 Output 1614838 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-NonCommercial-NoDerivatives License. true eng http://creativecommons.org/licenses/by-nc-nd/4.0/
title Gene variants previously associated with reduced soft tissue injury risk: Part 1 – independent associations with elite status in rugby
spellingShingle Gene variants previously associated with reduced soft tissue injury risk: Part 1 – independent 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 1 – independent associations with elite status in rugby
title_full Gene variants previously associated with reduced soft tissue injury risk: Part 1 – independent associations with elite status in rugby
title_fullStr Gene variants previously associated with reduced soft tissue injury risk: Part 1 – independent associations with elite status in rugby
title_full_unstemmed Gene variants previously associated with reduced soft tissue injury risk: Part 1 – independent associations with elite status in rugby
title_sort Gene variants previously associated with reduced soft tissue injury risk: Part 1 – independent 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
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 5
container_start_page 726
publishDate 2023
institution Swansea University
issn 1746-1391
1536-7290
doi_str_mv 10.1080/17461391.2022.2053752
publisher Wiley
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 Engineering and Applied Sciences - Sport and Exercise Sciences{{{_:::_}}}Faculty of Science and Engineering{{{_:::_}}}School of Engineering and Applied Sciences - Sport and Exercise Sciences
document_store_str 1
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description There is growing evidence of genetic contributions to tendon and ligament pathologies. Given the high incidence and severity of tendon and ligament injuries in elite rugby, we studied whether 13 gene polymorphisms previously associated with tendon/ligament injury were associated with elite athlete status. Participants from the RugbyGene project were 663 elite Caucasian male rugby athletes (RA) (mean (standard deviation) height 1.85 (0.07) m, mass 101 (12) kg, age 29 (7) yr), including 558 rugby union athletes (RU) and 105 rugby league athletes. Non-athletes (NA) were 909 Caucasian men and women (56% female; height 1.70 (0.10) m, mass 72 (13) kg, age 41 (23) yr). Genotypes were determined using TaqMan probes and groups compared using Χ2 and odds ratio (OR). COLGALT1 rs8090 AA genotype was more frequent in RA (27%) than NA (23%; P = 0.006). COL3A1 rs1800255 A allele was more frequent in RA (26%) than NA (23%) due to a greater frequency of GA genotype (39% vs 33%). For MIR608 rs4919510, RA had 1.7 times the odds of carrying the CC genotype compared to NA. MMP3 rs591058 TT genotype was less common in RA (25.1%) than NA (31.2%; P < 0.04). For NID1 rs4660148, RA had 1.6 times the odds of carrying the TT genotype compared to NA. It appears that elite rugby athletes have an inherited advantage that contributes to their elite status, possibly via resistance to soft tissue injury. These data may, in future, assist personalised management of injury risk amongst athletes.Highlights The elite rugby athletes we studied had differing genetic characteristics to non-athletes regarding genetic variants previously associated with soft-tissue injury risk.COLGALT1 rs8090, COL3A1 rs1800255, MIR608 rs4919510, MMP3 rs591058 and NID1 rs4660148 were all associated with elite status in rugby.We propose that elite rugby athletes might possess an inherited resistance to soft tissue injury, which has enabled them to achieve elite status despite exposure to the high-risk environment of elite rugby.
published_date 2023-05-01T13:34:15Z
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