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

O’Connell, Kevin Sean

dc.contributor.advisor	Collins, Malcolm	en_ZA
dc.contributor.advisor	Posthumus, Michael	en_ZA
dc.contributor.author	O’Connell, Kevin Sean	en_ZA
dc.date.accessioned	2015-05-28T04:15:23Z
dc.date.available	2015-05-28T04:15:23Z
dc.date.issued	2014	en_ZA
dc.identifier.citation	2014. Investigation of selected collagen genes in exercise-related musculoskeletal soft tissue phenotypes. Thesis. University of Cape Town ,Faculty of Health Sciences ,Department of Human Biology. http://hdl.handle.net/11427/12960	en_ZA
dc.identifier.uri	http://hdl.handle.net/11427/12960
dc.description	Includes bibliographical references.	en_ZA
dc.description.abstract	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.	en_ZA
dc.language.iso	eng	en_ZA
dc.subject.other	Exercise Science	en_ZA
dc.title	Investigation of selected collagen genes in exercise-related musculoskeletal soft tissue phenotypes	en_ZA
dc.type	Doctoral Thesis
uct.type.publication	Research	en_ZA
uct.type.resource	Thesis	en_ZA
dc.publisher.institution	University of Cape Town
dc.publisher.faculty	Faculty of Health Sciences	en_ZA
dc.publisher.department	Department of Human Biology	en_ZA
dc.type.qualificationlevel	Doctoral
dc.type.qualificationname	PhD	en_ZA
uct.type.filetype	Text
uct.type.filetype	Image
dc.identifier.apacitation	(2014). <i>Investigation of selected collagen genes in exercise-related musculoskeletal soft tissue phenotypes</i>. (Thesis). University of Cape Town ,Faculty of Health Sciences ,Department of Human Biology. Retrieved from http://hdl.handle.net/11427/12960	en_ZA
dc.identifier.chicagocitation	. <i>"Investigation of selected collagen genes in exercise-related musculoskeletal soft tissue phenotypes."</i> Thesis., University of Cape Town ,Faculty of Health Sciences ,Department of Human Biology, 2014. http://hdl.handle.net/11427/12960	en_ZA
dc.identifier.vancouvercitation	. Investigation of selected collagen genes in exercise-related musculoskeletal soft tissue phenotypes. [Thesis]. University of Cape Town ,Faculty of Health Sciences ,Department of Human Biology, 2014 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/12960	en_ZA
dc.identifier.ris	TY - Thesis / Dissertation AU - O’Connell, Kevin Sean AB - 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. DA - 2014 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 2014 T1 - Investigation of selected collagen genes in exercise-related musculoskeletal soft tissue phenotypes TI - Investigation of selected collagen genes in exercise-related musculoskeletal soft tissue phenotypes UR - http://hdl.handle.net/11427/12960 ER -	en_ZA