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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
The guanine-thymine dinucleotide repeat polymorphism within the tenascin-C gene is associated with Achilles tendon injuries
American Journal of Sports Medicine, Volume 33, No. 7, Year 2005
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Description
Background: Although there is a high incidence of tendon injury as a result of participation in physical activity, the mechanisms responsible for such injuries are poorly understood. Investigators have suggested that some people may have a genetic predisposition to develop tendon injuries; in particular, genes on the tip of the long arm of chromosome 9 might, at least in part, be associated with this condition. The tenascin-C gene, which has been mapped to chromosome 9q32-q34, encodes for a structural component of tendons. Hypothesis: The tenascin-C gene is associated with Achilles tendon injury. Study Design: Case control study; Level of evidence, 3. Methods: A total of 114 physically active white subjects with symptoms of Achilles tendon injury and 127 asymptomatic, physically active white control subjects were genotyped for the guanine-thymine dinucleotide repeat polymorphism within the tenascin-C gene. Results: A significant difference in the allele frequencies of this polymorphism existed between the 2 groups of subjects (χ2 = 51.0, P = .001). The frequencies of the alleles containing 12 repeats (symptomatic group, 18.9% vs control group, 10.2%) and 14 repeats (symptomatic group, 9.2% vs control group, 0.8%) were significantly higher in the symptomatic group, while the frequencies of the alleles containing 13 repeats (symptomatic group, 8.8% vs control group, 24.0%) and 17 repeats (symptomatic group, 7.5% vs control group, 20.1%) were significantly lower in this same group. Subjects who were homozygous or heterozygous for the underrepresented alleles (13 and 17 repeats) but who did not possess an overrepresented allele (12 and 14 repeats) may have a lower risk of developing Achilles tendon injuries (odds ratio, 6.2; 95% confidence interval, 3.5-11.0; P < .001). Conclusions: The guanine-thymine dinucleotide repeat polymorphism within the tenascin-C gene is associated with Achilles tendon injury. Alleles containing 12 and 14 guanine-thymine repeats were overrepresented in subjects with tendon injuries, while the alleles containing 13 and 17 repeats were underrepresented. Clinical Relevance: Persons who have variants of the tenascin-C gene with 12 and 14 guanine-thymine repeats appear to have a 6-fold risk of developing Achilles tendon injuries. © 2005 American Orthopaedic Society for Sports Medicine.
Authors & Co-Authors
Mokone, Gaonyadiwe George
South Africa, Cape Town
Faculty of Health Sciences
Gajjar, Mamta
South Africa, Cape Town
Faculty of Health Sciences
September, Alison Victoria
South Africa, Cape Town
Faculty of Health Sciences
Schwellnus, MP Peter
South Africa, Cape Town
Faculty of Health Sciences
Greenberg, Jacquie L.
South Africa, Cape Town
Faculty of Health Sciences
Noakes, Timothy D.
South Africa, Cape Town
Faculty of Health Sciences
Collins, Malcolm R.
South Africa, Tygerberg
South African Medical Research Council
South Africa, Cape Town
University of Cape Town
Statistics
Citations: 196
Authors: 7
Affiliations: 3
Identifiers
Doi:
10.1177/0363546504271986
ISSN:
03635465
Research Areas
Genetics And Genomics
Health System And Policy
Violence And Injury
Study Design
Randomised Control Trial
Cohort Study
Case-Control Study