The Association of the COL27A1 rs946053 and TNC rs2104772s with Tendinopathies: A Case–Control Study in High-Level Croatian Athletes

<b>Background/Objectives:</b> The increased risk of developing tendinopathies in athlete populations has led to investigations of several genes associated with tendon properties, suggesting that some individuals have a greater genetic predisposition for developing tendinopathies. The main purpose of this study was to investigate how the functional polymorphisms within the <i>COL5A1</i>, <i>COL27A1</i> and <i>TNC</i> genes impact the risk of developing tendinopathies in high-level Croatian athletes. <b>Methods</b>: For this case-control genetic study, we recruited 63 high-level athletes with a diagnosis of tendinopathies and 92 healthy asymptomatic individuals as controls. All individuals were genotyped for three single-nucleotide polymorphisms (SNPs) within the <i>COL5A1</i>, <i>COL27A1</i> and <i>TNC</i> genes using the pyrosequencing method. <b>Results:</b><i>TNC</i> rs2104772 TT (<i>p</i> = 0.0089) and the T-T-T haplotype (<i>p</i> = 0.0234), constructed from rs12722, rs946053 and rs2104772, were significantly overrepresented in cases versus controls, implicating a predisposition for tendinopathies. <i>COL27A1</i> rs946053 GG (<i>p</i> = 0.0118) and the G-A-C haplotype (<i>p</i> = 0.0424), constructed from rs12722, rs946053 and rs2104772, were significantly overrepresented in controls, implicating a protective role. <b>Conclusions:</b> These results further support associations between functional polymorphisms within the <i>COL27A1</i> and <i>TNC</i> genes and the risk of tendinopathies in high-level athletes. Further research is needed to replicate these results in various populations and larger cohorts.