Association of the <em>COL27A1</em> rs946053 and <em>TNC</em> rs2104772s with Tendinopathies: Case-Control Study in High-Level Athletes

Background/Objectives: Increased risk of developing tendinopathies in athlete population has led to investigations of several genes associated with tendon properties, suggesting some individuals have greater genetic predisposition for developing tendinopathies. The main purpose of this study was to investigate how the functional polymorphisms within the COL5A1, COL27A1 and TNC genes impact risk of developing tendinopathies in Croatian high-level athletes. Methods: For this case-control genetic study we have recruited sixty-three high-level athletes with diagnosed tendinopathies and ninety-two asymptomatic healthy controls, all being unrelated Caucasians. Participants were genotyped for three single nucleotide polymorphisms (SNP) within COL5A1, COL27A1 and TNC genes using the pyrosequencing method. Results: TNC rs2104772 TT (P=0.0089) and T-T-T haplotype (P=0.0234) constructed of rs12722, rs946053 and rs2104772 were significantly over-represented in cases versus controls, implicating predisposition for tendinopathies. COL27A1 rs946053 GG (P=0. 0118) and G-A-C haplotype (P=0.0424) constructed of rs12722, rs946053 and rs2104772 were significantly over-represented in controls implicating protective role. Conclusions: These results further support associations between functional polymorphisms within the COL27A1 and TNC genes and risk of tendinopathies in high-level athletes. Further research is needed to replicate these results in various populations and in larger cohorts.