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

Brazier, J, Antrobus, M, Callus, P, Herbert, A, Stebbings, G, Martin, D, Day, S, Kilduff, L, Bennett, M, Erskine, R, Raleigh, S, Cullen, T, Collins, M, Pitsiladis, Y, Heffernan, S and Williams, AG 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 (Accepted)

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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
Uncontrolled Keywords:	1106 Human Movement and Sports Sciences; 1116 Medical Physiology; 1117 Public Health and Health Services; Sport Sciences; 3202 Clinical sciences; 4207 Sports science and exercise; 5201 Applied and developmental psychology
Subjects:	R Medicine > RC Internal medicine > RC1200 Sports Medicine
Divisions:	Sport and Exercise Sciences
Publisher:	Elsevier
Date of acceptance:	15 May 2025
Date Deposited:	15 May 2025 09:22
Last Modified:	15 May 2025 09:30
URI:	https://researchonline.ljmu.ac.uk/id/eprint/26359

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