Raleigh, S. M., van der Merwe, L., Ribbans, W. J., Smith, R. K., Schwellnus, M. P. and Collins, M. (2009) Variants within the MMP3 gene are associated with achilles tendinopathy: possible interaction with the COL5A1 gene. British Journal of Sports Medicine. 43(7), pp. 514-520. 0306-3674.
Untitled (460kB) |
| Item Type: | Article |
|---|---|
| Abstract: | Objectives: Sequence variation within the COL5A1 and TNC genes are known to associate with Achilles tendinopathy. The primary aim of this case-control genetic association study was to investigate whether variants within the matrix metalloproteinase 3 (MMP3) gene also contributed to both Achilles tendinopathy and Achilles tendon rupture in a Caucasian population. A secondary aim was to establish whether variants within the MMP3 gene interacted with the COL5A1 rs12722 variant to raise risk of these pathologies. Methods: 114 subjects with symptoms of Achilles tendon pathology and 98 healthy controls were genotyped for MMP3 variants rs679620, rs591058 and rs650108. Results: As single markers, significant associations were found between the GG genotype of rs679620 (OR = 2.5, 95% CI 1.2 to 4.90, p = 0.010), the CC genotype of rs591058 (OR = 2.3, 95% CI 1.1 to 4.50, p = 0.023) and the AA genotype of rs650108 (OR = 4.9, 95% CI 1.0 to 24.1, p = 0.043) and risk of Achilles tendinopathy. The ATG haplotype (rs679620, rs591058, and rs650108) was under-represented in the tendinopathy group when compared to the control group (41% vs 53%, p = 0.038). Finally, the G allele of rs679620 and the T allele of COL5A1 rs12722 significantly interacted to raise risk of AT (p = 0.006). No associations were found between any of the MMP3 markers and Achilles tendon rupture. Conclusion: Variants within the MMP3 gene are associated with Achilles tendinopathy. Furthermore, the MMP3 gene variant rs679620 and the COL5A1 marker rs12722 interact to modify the risk of tendinopathy. These data further support a genetic contribution to a common sports related injury |
| Subjects: |
R Medicine > RC Internal medicine > RC1200 Sports Medicine R Medicine > RB Pathology > RB151 Theories of disease. Etiology. Pathogenesis > RB155 Medical genetics |
| Creators: | Raleigh, Stuart M, van der Merwe, L, Ribbans, William J, Smith, R K, Schwellnus, M P and Collins, M |
| Funders or Sponsors: | National Research Council (NRC) of South Africa, University of Cape Town, University of Northampton, South African Medical Research Council (MRC) |
| Publisher: | BMJ Publishing Group |
| Northamptonshire and East Midlands: | Health |
| Faculties, Divisions and Institutes: |
University Faculties, Divisions and Research Centres - OLD > Faculty of Health & Society > Sports, Exercise & Life Sciences University Faculties, Divisions and Research Centres - OLD > Research Centre > Institute of Health and Wellbeing > Centre for Physical Activity and Chronic Disease Faculties > Faculty of Health & Society > Sports, Exercise & Life Sciences Research Centres > Centre for Health Sciences and Services Research Centres > Centre for Physical Activity and Life Sciences |
| Date: | July 2009 |
| Date Type: | Publication |
| Page Range: | pp. 514-520 |
| Journal or Publication Title: | British Journal of Sports Medicine |
| Volume: | 43 |
| Number: | 7 |
| Language: | English |
| DOI: | https://doi.org/10.1136/bjsm.2008.053892 |
| ISSN: | 0306-3674 |
| Status: | Published / Disseminated |
| Refereed: | Yes |
| URI: | http://nectar.northampton.ac.uk/id/eprint/2121 |
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