Central European Journal of Sport Sciences and Medicine

ISSN: 2300-9705     eISSN: 2353-2807
CC BY-SA   Open Access 

Lista wydań / Vol. 1, No. 1/2013
Collagen gene sequence variants in exercise-related traits

Rok wydania:2013
Liczba stron:15 (3-17)
Słowa kluczowe: ACL Achilles tendinopathy flexibility ligament performance
Autorzy: Malcolm Collins
South African Medical Research Council in Cape Town, South Africa; MRC/UCT Research Unit for Exercise Science and Sports Medicine of the Department of Human Biology, Faculty of Health Sciences, University of Cape Town, South Africa

Kevin O’Connell
MRC/UCT Research Unit for Exercise Science and Sports Medicine of the Department of Human Biology, Faculty of Health Sciences, University of Cape Town, South Africa

Colleen J. Saunders
MRC/UCT Research Unit for Exercise Science and Sports Medicine of the Department of Human Biology, Faculty of Health Sciences, University of Cape Town, South Africa


Collagens are major structural proteins of tendons, ligaments and other components of musculoskeletal tissues. Rare mutations in many of the genes, which encode for the collagen α-chains, result in serious musculoskeletal disorders, highlighting the importance of this protein family in the normal structure an d function of musculoskeletal tissues. Since these rare mutations cause severe disorders, it has been proposed that a lack of biological redundancy exists within the collagen fibril, and that collagen-encoding genes are therefore ideal candidates for association with less severe exercise-related traits. This review identifies a number of collagen gene variants which are associated with various exercise-related traits. Based on the evidence outlined in this review, we propose that a general genetic continuum exists for collagen genes and their associated traits. At one end of this general continuum model, a single mutation within one or more collagen genes will result in severe Mendelian disorders. At the other end of the continuum, functional variants within these collagen genes collectively contribute to the aetiology of anomalous multifactorial connective tissue traits, which arise as a result of the interaction of genetic and non-genetic factors which modulate physiological responses to environmental stimuli.
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