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

Brazier, Jon and Antrobus, Mark R. and Callus, Peter C. and Herbert, Adam J. and Stebbings, Georgina K. and Martin, Daniel and Day, Stephen H. and Kilduff, Liam P. and Bennett, Mark A. and Erskine, Robert M. and Raleigh, Stuart.M. and Cullen, Tom and Collins, Malcolm and Pitsiladis, Yannis.P. and Heffernan, Shane M. and Williams, Alun G. (2025) Variants within the MMP3 and COL5A1 genes associate with soft tissue injury history in elite male rugby athletes. Journal of Science and Medicine in Sport. ISSN 1440-2440

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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
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.

Item Type:	Article
Identification Number:	10.1016/j.jsams.2025.05.007
Dates:	Date Event 14 May 2025 Accepted 19 May 2025 Published Online
Subjects:	CAH03 - biological and sport sciences > CAH03-01 - biosciences > CAH03-01-07 - genetics CAH03 - biological and sport sciences > CAH03-01 - biosciences > CAH03-01-08 - molecular biology, biophysics and biochemistry CAH03 - biological and sport sciences > CAH03-02 - sport and exercise sciences > CAH03-02-01 - sport and exercise sciences
Divisions:	Faculty of Health, Education and Life Sciences > Centre for Life and Sport Sciences (C-LASS)
Depositing User:	Adam Herbert
Date Deposited:	20 May 2025 14:50
Last Modified:	20 May 2025 14:50
URI:	https://www.open-access.bcu.ac.uk/id/eprint/16370

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