Investigation of selected collagen genes in exercise-related musculoskeletal soft tissue phenotypes

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.

Grantor dc:publisher.institution

Department of Human Biology

Year dc:date.issued

2014

Author dc:creator

• O’Connell, Kevin Sean

Advisors dc:contributor.advisor

• Collins, Malcolm
• Posthumus, Michael

Language dc:language.iso

eng

Handle dc:identifier.uri

http://hdl.handle.net/11427/12960

OAI identifier oai:identifier

oai:open.uct.ac.za:11427/12960