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Variants within the MMP3 and COL5A1 genes associate with soft tissue injury history in elite male rugby athletes

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

Journal of Science and Medicine in Sport, Volume: 28, Issue: 9, Pages: 720 - 726

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

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DOI (Published version): 10.1016/j.jsams.2025.05.007

Abstract

Objectives:To investigate associations between genetic variants within COLGALT1, COL1A1, COL3A1, COL5A1, KDR, MIR608, MMP3, NID1, TIMP2 and VEGFA and injury history in elite male rugby athletes.Design: A case-control genetic association study was conducted on 184 elite male rugby athletes.Methods: P...

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Published in: Journal of Science and Medicine in Sport
ISSN: 1440-2440
Published: Elsevier BV 2025
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Injury data were collected via a self-reported injury-history questionnaire. Single-locus association and Total Genotype Score (TGS) analyses were conducted using &#x3C7;2 tests. In addition, multifactor dimensionality reduction and inferred haplotype analysis were used to identify genetic interactions.Results:The TT genotype of MMP3 rs679620 was underrepresented in the non-injured ligament group compared to the ligament sprain and ligament rupture groups (10%, 32%, 25%; P &lt; 0.04, respectively). The T allele of MMP3 rs679620 was overrepresented in the non-injured tendon group compared to the tendinopathy group (50%, 38%; P &lt; 0.02). The proportion of C allele carriers of COL5A1 rs12722 was higher in the tendon rupture group than the non-injured tendon group (96%, 75%; P &lt; 0.02). Furthermore, the T-C inferred haplotype frequency of COL5A1 rs12722 and COL5A1 rs3196378 was higher in the tendon rupture, ligament sprain and total injured athlete groups compared to their respective non-injured groups (P &lt; 0.02).Conclusion:This study is the first to identify associations between MMP3 rs679620 and COL5A1 rs12722 and soft-tissue injury history in elite male rugby athletes. 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spelling 2025-10-06T11:44:21.3419237 v2 69517 2025-05-15 Variants within the MMP3 and COL5A1 genes associate with soft tissue injury history in 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 2025-05-15 EAAS Objectives:To investigate associations between genetic variants within COLGALT1, COL1A1, COL3A1, COL5A1, KDR, MIR608, MMP3, NID1, TIMP2 and VEGFA and injury history in elite male rugby athletes.Design: A case-control genetic association study was conducted on 184 elite male rugby athletes.Methods: Participants were genotyped for 13 genetic polymorphisms previously associated with soft tissue injury using standard PCR assays. Injury data were collected via a self-reported injury-history questionnaire. Single-locus association and Total Genotype Score (TGS) analyses were conducted using χ2 tests. In addition, multifactor dimensionality reduction and inferred haplotype analysis were used to identify genetic interactions.Results:The TT genotype of MMP3 rs679620 was underrepresented in the non-injured ligament group compared to the ligament sprain and ligament rupture groups (10%, 32%, 25%; P < 0.04, respectively). The T allele of MMP3 rs679620 was overrepresented in the non-injured tendon group compared to the tendinopathy group (50%, 38%; P < 0.02). The proportion of C allele carriers of COL5A1 rs12722 was higher in the tendon rupture group than the non-injured tendon group (96%, 75%; P < 0.02). Furthermore, the T-C inferred haplotype frequency of COL5A1 rs12722 and COL5A1 rs3196378 was higher in the tendon rupture, ligament sprain and total injured athlete groups compared to their respective non-injured groups (P < 0.02).Conclusion:This study is the first to identify associations between MMP3 rs679620 and COL5A1 rs12722 and soft-tissue injury history in elite male rugby athletes. These findings support the growing evidence that soft-tissue injury could be influenced by an athlete’s genetic predisposition. Journal Article Journal of Science and Medicine in Sport 28 9 720 726 Elsevier BV 1440-2440 Genetics; Rugby; Tendon; Ligament; Soft Tissue; Elite 1 9 2025 2025-09-01 10.1016/j.jsams.2025.05.007 COLLEGE NANME Engineering and Applied Sciences School COLLEGE CODE EAAS Swansea University Another institution paid the OA fee This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors. 2025-10-06T11:44:21.3419237 2025-05-15T10:33:26.6074558 Faculty of Science and Engineering School of Engineering and Applied Sciences - Sport and Exercise Sciences Jon Brazier 1 Mark R. Antrobus 2 Peter C. Callus 3 Adam J. Herbert 4 Georgina K. Stebbings 5 Daniel Martin 6 Stephen H. Day 7 Liam Kilduff 0000-0001-9449-2293 8 Mark Bennett 9 Robert M. Erskine 10 Stuart M. Raleigh 11 Tom Cullen 12 Malcolm Collins 13 Yannis P. Pitsiladis 14 Shane Heffernan 0000-0002-3297-9335 15 Alun Williams 16 69517__35254__f2107bc94a5a4b0398a8f85865e5aabf.pdf 69517.VoR.pdf 2025-10-06T11:42:19.3063720 Output 820526 application/pdf Version of Record true © 2025 The Author(s). This is an open access article under the CC BY license. true eng http://creativecommons.org/licenses/by/4.0/
title Variants within the MMP3 and COL5A1 genes associate with soft tissue injury history in elite male rugby athletes
spellingShingle Variants within the MMP3 and COL5A1 genes associate with soft tissue injury history in elite male rugby athletes
Liam Kilduff
Mark Bennett
Shane Heffernan
Alun Williams
title_short Variants within the MMP3 and COL5A1 genes associate with soft tissue injury history in elite male rugby athletes
title_full Variants within the MMP3 and COL5A1 genes associate with soft tissue injury history in elite male rugby athletes
title_fullStr Variants within the MMP3 and COL5A1 genes associate with soft tissue injury history in elite male rugby athletes
title_full_unstemmed Variants within the MMP3 and COL5A1 genes associate with soft tissue injury history in elite male rugby athletes
title_sort Variants within the MMP3 and COL5A1 genes associate with soft tissue injury history in 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 Jon Brazier
Mark R. Antrobus
Peter C. Callus
Adam J. Herbert
Georgina K. Stebbings
Daniel Martin
Stephen H. Day
Liam Kilduff
Mark Bennett
Robert M. Erskine
Stuart M. Raleigh
Tom Cullen
Malcolm Collins
Yannis P. Pitsiladis
Shane Heffernan
Alun Williams
format Journal article
container_title Journal of Science and Medicine in Sport
container_volume 28
container_issue 9
container_start_page 720
publishDate 2025
institution Swansea University
issn 1440-2440
doi_str_mv 10.1016/j.jsams.2025.05.007
publisher Elsevier BV
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
active_str 0
description Objectives:To investigate associations between genetic variants within COLGALT1, COL1A1, COL3A1, COL5A1, KDR, MIR608, MMP3, NID1, TIMP2 and VEGFA and injury history in elite male rugby athletes.Design: A case-control genetic association study was conducted on 184 elite male rugby athletes.Methods: Participants were genotyped for 13 genetic polymorphisms previously associated with soft tissue injury using standard PCR assays. Injury data were collected via a self-reported injury-history questionnaire. Single-locus association and Total Genotype Score (TGS) analyses were conducted using χ2 tests. In addition, multifactor dimensionality reduction and inferred haplotype analysis were used to identify genetic interactions.Results:The TT genotype of MMP3 rs679620 was underrepresented in the non-injured ligament group compared to the ligament sprain and ligament rupture groups (10%, 32%, 25%; P < 0.04, respectively). The T allele of MMP3 rs679620 was overrepresented in the non-injured tendon group compared to the tendinopathy group (50%, 38%; P < 0.02). The proportion of C allele carriers of COL5A1 rs12722 was higher in the tendon rupture group than the non-injured tendon group (96%, 75%; P < 0.02). Furthermore, the T-C inferred haplotype frequency of COL5A1 rs12722 and COL5A1 rs3196378 was higher in the tendon rupture, ligament sprain and total injured athlete groups compared to their respective non-injured groups (P < 0.02).Conclusion:This study is the first to identify associations between MMP3 rs679620 and COL5A1 rs12722 and soft-tissue injury history in elite male rugby athletes. These findings support the growing evidence that soft-tissue injury could be influenced by an athlete’s genetic predisposition.
published_date 2025-09-01T05:30:17Z
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score 11.095902

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