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

Includes bibliographical references.

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Bibliographic Details
Main Author: O’Connell, Kevin Sean
Other Authors: Collins, Malcolm
Format: Thesis
Language:English
Published: Department of Human Biology 2015
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access_status_str Open Access
author O’Connell, Kevin Sean
author2 Collins, Malcolm
author_browse Collins, Malcolm
O’Connell, Kevin Sean
author_facet Collins, Malcolm
O’Connell, Kevin Sean
author_sort O’Connell, Kevin Sean
collection Thesis
description Includes bibliographical references.
format Thesis
id oai:open.uct.ac.za:11427/12960
institution University of Cape Town (South Africa)
language eng
last_indexed 2026-06-10T12:33:54.099Z
license_str Not specified — see source repository
provenance_str_mv Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository
publishDate 2015
publishDateRange 2015
publishDateSort 2015
publisher Department of Human Biology
publisherStr Department of Human Biology
record_format dspace
source_str UCTD — University of Cape Town Open Access Repository
spelling oai:open.uct.ac.za:11427/12960 Investigation of selected collagen genes in exercise-related musculoskeletal soft tissue phenotypes O’Connell, Kevin Sean Collins, Malcolm Posthumus, Michael Exercise Science 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. 2015-05-28T04:15:23Z 2015-05-28T04:15:23Z 2014 Doctoral Thesis Doctoral PhD http://hdl.handle.net/11427/12960 eng application/pdf Department of Human Biology Faculty of Health Sciences University of Cape Town
spellingShingle Exercise Science
O’Connell, Kevin Sean
Investigation of selected collagen genes in exercise-related musculoskeletal soft tissue phenotypes
thesis_degree_str Doctoral
title Investigation of selected collagen genes in exercise-related musculoskeletal soft tissue phenotypes
title_full Investigation of selected collagen genes in exercise-related musculoskeletal soft tissue phenotypes
title_fullStr Investigation of selected collagen genes in exercise-related musculoskeletal soft tissue phenotypes
title_full_unstemmed Investigation of selected collagen genes in exercise-related musculoskeletal soft tissue phenotypes
title_short Investigation of selected collagen genes in exercise-related musculoskeletal soft tissue phenotypes
title_sort investigation of selected collagen genes in exercise related musculoskeletal soft tissue phenotypes
topic Exercise Science
url http://hdl.handle.net/11427/12960
work_keys_str_mv AT oconnellkevinsean investigationofselectedcollagengenesinexerciserelatedmusculoskeletalsofttissuephenotypes