The BstUI and Dpii variants of the COL5a1 gene are associated with tennis elbow
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Background: Tennis elbow entails pain and tenderness over the lateral epicondyle. The exact cause of the condition is not fully understood. Type V collagen is a minor fibrillar collagen that intercalates with type I collagen and forms collagen fibrils. It is encoded by the COL5A1 gene. Sequence variants within COL5A1 3-UTR have been implicated in musculoskeletal diseases. Purpose: To determine whether rs12722 (BstUI C414T polymorphism) and rs13946 (DpnII C230T polymorphism) of the COL5A1 gene are associated with an increased risk of tennis elbow. Study Design: Cohort study; Level of evidence, 3. Methods: A total of 152 patients with tennis elbow and 195 healthy participants were enrolled in this study. The rs12722 (BstUI C414T) and rs13946 (DpnII C230T) polymorphisms were investigated with the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: There was a significant difference in both BstUI and DpnII genotype frequencies between patients with tennis elbow and healthy participants. The A2 allele of BstUI and the B1 allele of DpnII were significantly underrepresented in the patient group. Conclusion: Individuals with the BstUI A1 allele and DpnII B2 allele of the COL5A1 gene have a high likelihood of developing symptoms of the tennis elbow. This is the first study reporting that rs12722 and rs13946 SNPs (single nucleotide polymorphisms) are genetic risk factors for tennis elbow.