Northampton Electronic Collection of Theses and Research

The MMP3 gene in musculoskeletal soft tissue injury risk profiling: a study in two independent sample groups

Gibbon, A., Hobbs, H., Van der Merwe, W., Raleigh, S. M., Cook, J., Handley, C. J., Posthumus, M., Collins, M. and September, A. V. (2016) The MMP3 gene in musculoskeletal soft tissue injury risk profiling: a study in two independent sample groups. Journal of Sports Sciences. 35(7), pp. 655-662. 0264-0414.

Item Type: Article
Abstract: Matrix metalloproteinase-3 (MMP3) is a mediator of matrix remodelling and a proposed susceptibility locus in the genetic profile of musculoskeletal soft tissue injuries. Therefore, this study aimed to validate the MMP3 gene as a risk marker for these injuries by conducting a case control genetic association study in two independent samples groups. Three previously investigated MMP3 variants (rs679620, rs591058 and rs650108) in addition to the functional promoter variant (rs3025058) were genotyped in 195 Australian control participants and 79 Australian individuals with chronic Achilles tendinopathy. Similarly, 234 South African individuals with acute anterior cruciate ligament ruptures and 232 matched control participants were also analysed. Based on high linkage with the previously associated MMP3 variant rs679620, rs3025058 was inferred and found to be associated with increased risk for Achilles tendinopathy within the South African group (P = 0.012; OR: 2.88; 95% CI: 1.4 to 6.1). Lastly, the 6A-G-C-G haplotype, constructed from the investigated variants, was significantly associated with reduced risk for Achilles tendinopathy (29% CON vs. 20% TEN, P = 0.037) in the Australian group. In conclusion, a signal surrounding MMP3 is apparent with respect to Achilles tendinopathy. However, whether the investigated variants are contributing to injury susceptibility or whether they are merely linked to the risk conferring variants mapping elsewhere within the MMP gene cluster on chromosome 11, still requires refining.
Uncontrolled Keywords: Musculoskeletal soft tissue injuries, genetics association studies, matrix metalloproteinase-3
Subjects: R Medicine > RC Internal medicine > RC1200 Sports Medicine
R Medicine > RB Pathology > RB151 Theories of disease. Etiology. Pathogenesis > RB155 Medical genetics
Creators: Gibbon, A, Hobbs, H, Van der Merwe, W, Raleigh, Stuart M, Cook, J, Handley, C J, Posthumus, Michael, Collins, M and September, A V
Publisher: Taylor & Francis
Faculties, Divisions and Institutes: University Faculties, Divisions and Research Centres - OLD > Faculty of Health & Society > Sports, Exercise & Life Sciences
Faculties > Faculty of Health & Society > Sports, Exercise & Life Sciences
Date: 21 May 2016
Date Type: Published Online
Page Range: pp. 655-662
Journal or Publication Title: Journal of Sports Sciences
Volume: 35
Number: 7
Language: English
ISSN: 0264-0414
Status: Published / Disseminated

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