Includes bibliographical references. / Previous findings have suggested that functional variants within collagen encoding genes are associated with several musculoskeletal soft tissue injuries and other exercise-related phenotypes. Specifically variants within the functional COL5A1 3’- untranslated region (UTR) have previously been associated with (1) chronic Achilles tendinopathy, (2) Anterior Cruciate Ligament (ACL) ruptures in females, (3) endurance running performance and (4) range of motion (ROM). Since this gene encodes for an important structural component of the collagen fibril it has been hypothesised that variants within other collagen fibril encoding genes, such as COL3A1, COL6A1 and COL12A1, will also be associated with these and/or other musculoskeletal soft tissue injuries and exercise-related phenotypes. The COL5A1 rs12722 and COL12A1 rs970547 gene variants have been previously associated with risk of ACL ruptures in females [153;154] and/or chronic Achilles tendinopathy [131;181]. The first aim of this thesis was therefore to investigate the COL3A1 rs1800255 and COL6A1 rs35796750 gene variants as risk factors for these musculoskeletal soft tissue injuries.
| Identifer | oai:union.ndltd.org:netd.ac.za/oai:union.ndltd.org:uct/oai:localhost:11427/12960 |
| Date | January 2014 |
| Creators | O’Connell, Kevin Sean |
| Contributors | Collins, Malcolm, Posthumus, Michael |
| Publisher | University of Cape Town, Faculty of Health Sciences, Department of Human Biology |
| Source Sets | South African National ETD Portal |
| Language | English |
| Detected Language | English |
| Type | Doctoral Thesis, Doctoral, PhD |
| Format | application/pdf |
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