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The COL5A1 gene and Achilles tendon pathology
G G Mokone1, M P Schwellnus, T D Noakes
1UCT/MRC Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Scandinavian Journal of Medicine & Science in Sports
|January 25, 2006
Summary
Genetic variations in the alpha 1 type V collagen (COL5A1) gene are linked to Achilles tendon pathology (ATP). Specifically, the A2 allele of the COL5A1 BstUI RFLP may offer protection against chronic Achilles tendinopathy.
Area of Science:
- Genetics
- Orthopedics
- Sports Medicine
Background:
- Increased incidence of Achilles tendon injuries with physical activity.
- Potential genetic predisposition to Achilles tendon pathology (ATP).
Purpose of the Study:
- Investigate the association between the COL5A1 gene and ATP symptoms.
- Determine if COL5A1 gene variations predispose individuals to Achilles tendon issues.
Main Methods:
- Genotyping of 111 Caucasian ATP subjects and 129 Caucasian controls.
- Analysis of BstUI and DpnII restriction fragment length polymorphisms (RFLPs) in the COL5A1 gene.
Main Results:
- Significant difference in COL5A1 BstUI RFLP allele frequencies between ATP and control groups (P=0.006).
- Higher frequency of the protective A2 allele in controls (29.8%) vs. ATP group (18.0%).
- A2 allele showed a stronger protective role in chronic Achilles tendinopathy (OR 2.6).
Conclusions:
- The COL5A1 BstUI RFLP is associated with Achilles tendon pathology.
- The A2 allele of COL5A1 BstUI RFLP is linked to a reduced likelihood of developing chronic Achilles tendinopathy.
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