title: The COL12A1 and COL14A1 genes and Achilles tendon injuries.
abstract: Genes encoding for tenascin C and a subunit of type V collagen have previously been reported to be associated with Achilles tendon injuries. Types XII and XIV collagen may be involved in similar biological processes as these proteins in tendons. The aim of this study was therefore to test the association between polymorphisms within COL12A1 and COL14A1 and Achilles tendon injuries. Restriction fragment length polymorphism (RFLP) analysis was used to identify the relative frequencies of two polymorphisms within each of the COL12A1 and COL14A1 genes within 137 subjects with clinical symptoms of Achilles tendon injuries, consisting of 93 with Achilles tendinopathy and 44 with Achilles tendon rupture, and 131 asymptomatic control subjects. No statistically significant differences were identified in the genotype, allele or haplotype distributions between the affected and control subjects. The findings from this study suggest that although COL12A1 and COL14A1 are involved in similar biological processes as TNC and COL5A1, the polymorphisms tested are not associated with clinical symptoms of Achilles tendon injury within the investigated population.
authors.affiliation: UCT/MRC Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town, Cape Town, South Africa.
authors.forename: A V
authors.initials: AV
authors.lastname: September
authors.forename: M
authors.initials: M
authors.lastname: Posthumus
authors.forename: L
authors.initials: L
authors.lastname: van der Merwe
authors.forename: M
authors.initials: M
authors.lastname: Schwellnus
authors.forename: T D
authors.initials: TD
authors.lastname: Noakes
authors.forename: M
authors.initials: M
authors.lastname: Collins
mesh_terms: D000125:Achilles Tendon / Q000293:injuries*; D000328:Adult; D016022:Case-Control Studies; D003094:Collagen / Q000235:genetics*; D024082:Collagen Type XII / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D012421:Rupture; D013708:Tendon Injuries / Q000235:genetics*
chemical_list: C054447:COL14A1 protein, human; D024082:Collagen Type XII; D006023:Glycoproteins; D003094:Collagen