Journal article 3 views
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, Volume: 28, Issue: 9, Pages: 720 - 726
Swansea University Authors:
Liam Kilduff , Mark Bennett, Shane Heffernan
, Alun Williams
Full text not available from this repository: check for access using links below.
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...
| Published in: | Journal of Science and Medicine in Sport |
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| ISSN: | 1440-2440 |
| Published: |
Elsevier BV
2025
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| Online Access: |
Check full text
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| URI: | https://cronfa.swan.ac.uk/Record/cronfa69517 |
| 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. |
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| Keywords: |
Genetics; Rugby; Tendon; Ligament; Soft Tissue; Elite |
| College: |
Faculty of Science and Engineering |
| Funders: |
This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors. |
| Issue: |
9 |
| Start Page: |
720 |
| End Page: |
726 |

