Effect of gene polymorphisms on the mechanical properties of human tendon structures

Recent studies showed that polymorphisms in alpha 1 chains of types I (COL1A1) and V (COL5A1) collagen, growth and differentiation factor 5 (GDF5), and matrix metalloproteinase 3 (MMP3) genes were associated with injuries in tendons and ligaments (e.g., September et al. (Br J Sports Med 43: 357–365 2009)). In the present study, we aimed to investigate the effects of injury-associated polymorphisms within these four genes on the mechanical properties of human tendon structures in vivo. One hundred Japanese males participated in this experiment. The mechanical properties of tendon structures in knee extensors and plantar flexors were measured using ultrasonography. All subjects were genotyped for COL1A1 rs1800012, COL5A1 rs12722, GDF5 rs143383, and MMP3 rs679620 single nucleotide polymorphisms. For COL1A1, all subjects had a GG genotype. For COL5A1, maximal tendon elongation and strain of individuals with a CC genotype were significantly greater than individuals with other genotypes (combined TT and CT) for knee extensors, but not for plantar flexors. For GDF5 and MMP3, there were no differences in the mechanical properties of tendon structures in knee extensors and plantar flexors among the three genotypes. The present study demonstrated that subjects with a CC genotype of the COL5A1 gene had more extensible tendon structures than those of subjects with other genotypes (combined TT and CT) for knee extensors, but not for plantar flexors. The results presented in this study need to be confirmed in a larger cohort of subjects.