PMID- 27211292 OWN - NLM STAT- MEDLINE DCOM- 20170615 LR - 20170615 IS - 1466-447X (Electronic) IS - 0264-0414 (Linking) VI - 35 IP - 7 DP - 2017 Apr TI - The MMP3 gene in musculoskeletal soft tissue injury risk profiling: A study in two independent sample groups. PG - 655-662 LID - 10.1080/02640414.2016.1183806 [doi] AB - 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. FAU - Gibbon, A AU - Gibbon A AD - a Division of Exercise Science and Sports Medicine, Department of Human Biology, Faculty of Health Sciences , University of Cape Town , Cape Town , South Africa. FAU - Hobbs, H AU - Hobbs H AD - b Sports Science Orthopaedic Clinic , Sports Science Institute of South Africa , Cape Town , South Africa. FAU - van der Merwe, W AU - van der Merwe W AD - b Sports Science Orthopaedic Clinic , Sports Science Institute of South Africa , Cape Town , South Africa. FAU - Raleigh, S M AU - Raleigh SM AD - c Centre for Physical Activity and Chronic Disease, Institute of Health and Wellbeing, School of Health , University of Northampton , Northampton , UK. FAU - Cook, J AU - Cook J AD - d School of Primary Health Care, Faculty of Medicine, Nursing and Health Sciences , Monash University , Melbourne , Australia. FAU - Handley, C J AU - Handley CJ AD - e Department of Physiology, Anatomy and Microbiology , La Trobe University , Melbourne , Australia. FAU - Posthumus, M AU - Posthumus M AD - a Division of Exercise Science and Sports Medicine, Department of Human Biology, Faculty of Health Sciences , University of Cape Town , Cape Town , South Africa. FAU - Collins, M AU - Collins M AD - a Division of Exercise Science and Sports Medicine, Department of Human Biology, Faculty of Health Sciences , University of Cape Town , Cape Town , South Africa. FAU - September, A V AU - September AV AD - a Division of Exercise Science and Sports Medicine, Department of Human Biology, Faculty of Health Sciences , University of Cape Town , Cape Town , South Africa. LA - eng PT - Journal Article DEP - 20160521 PL - England TA - J Sports Sci JT - Journal of sports sciences JID - 8405364 RN - EC 3.4.24.17 (MMP3 protein, human) RN - EC 3.4.24.17 (Matrix Metalloproteinase 3) SB - IM MH - Achilles Tendon MH - Adult MH - Anterior Cruciate Ligament MH - Anterior Cruciate Ligament Injuries/*genetics MH - Australia MH - Chromosomes, Human, Pair 11 MH - Female MH - Genetic Association Studies MH - Genetic Predisposition to Disease MH - *Genetic Variation MH - *Genotype MH - Haplotypes MH - Humans MH - Male MH - Matrix Metalloproteinase 3/*genetics MH - Middle Aged MH - Soft Tissue Injuries/*genetics MH - South Africa MH - Tendinopathy/*genetics OTO - NOTNLM OT - Musculoskeletal soft tissue injuries OT - genetics association studies OT - matrix metalloproteinase-3 EDAT- 2016/05/24 06:00 MHDA- 2017/06/16 06:00 CRDT- 2016/05/24 06:00 PHST- 2016/05/24 06:00 [pubmed] PHST- 2017/06/16 06:00 [medline] PHST- 2016/05/24 06:00 [entrez] AID - 10.1080/02640414.2016.1183806 [doi] PST - ppublish SO - J Sports Sci. 2017 Apr;35(7):655-662. doi: 10.1080/02640414.2016.1183806. Epub 2016 May 21.