By Andrej Čretnik (ed.)
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Extra info for Achilles Tendon
2000). Differential expression of lumican and fibromodulin regulate collagen fibrillogenesis in developing mouse tendons. The Journal of cell biology, 151(4), 779–788. Fichard A, Kleman, J. , & Ruggiero, F. (1995). Another look at collagen V and XI molecules. Matrix biology : journal of the International Society for Matrix Biology, 14(7), 515–531. Fletcher JR, Esau SP, and MacIntosh BR. (2010) Changes in tendon stiffness and running economy in highly trained distance runners. European Journal of Applied Physiology110: 1037-1046.
1993). New members of the collagen superfamily. Current opinion in cell biology, 5: 883-890. , & Fox, P. L. (2003). Translational control by the 3'-UTR: the ends specify the means. Trends in Biochemical Sciences, 28(2), 91–98. Meeuwisse WH. (1994). Assessing causation in sport injury: a multifactorial model. Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine, 4:166–170. Mokone GG, Schwellnus, M. , Noakes, T. , & Collins, M. (2006). The COL5A1 gene and Achilles tendon pathology.
Genetic association studies do not prove cause and effect but highlight genetic regions, proteins or biological pathways that should be further investigated using other biological techniques. This rs12722 SNP is however probably tightly linked to the as yet unknown phenotype-causing polymorphism(s) either within the 3’-UTR of the COL5A1 gene, other regions of COL5A1 or a neighboring gene. The results do however indicate that SNP rs12722 is a representative genetic marker for the genetic region (locus) within or surrounding the COL5A1 gene, which may potentially cause these reported phenotypes.