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

abstract: ...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: 357365 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.

... 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

... al. 2009 ). On the other hand, the mechanical properties of tendons and ligaments would be expected to be one of the risk factors for these injuries. More recently, Collins et al. ( 2009 ) and Brown et al. ( 2011 ) demonstrated that the COL5A1 rs12722 single nucleotide polymorphism was related to range of motion in the lower limb. Furthermore, Kato et al. ( 2010 ) suggested that an increase in range of motion due to static stretching was attributable to a change in tendon, not muscle, stiffness

... variation was 5.8% for maximal strain and 6.3% for stiffness. DNA extraction and genotyping Total DNA was isolated from saliva (2 ml) using Orangene DNA (DNA Genotek, Ottawa, Ontario, Canada). Saliva samples were stored at room temperature until total DNA extraction. Genotypes of four polymorphisms { COL1A1 rs1800012 (G/T), COL5A1 rs12722 (T/C), GDF5 rs143383 (T/C), and MMP3 rs679620 (G/A)} were determined at G&G Science (Fukushima, Japan) by a method that combines PCR and sequence-specific

... value was significant, a Tukeys honest significance post hoc test was used to determine specific differences. The level of significance was set at p<0.05. Results For COL1A1 rs1800012 (G/T), all subjects had a GG genotype. For COL5A1 rs12722 (T/C), GDF5 rs143383 (T/C), and MMP3 rs679620 (G/A), there were no significant differences in age, height, or body mass between the three genotype groups of each single nucleotide polymorphism (Table 2 ). Table 2 Age and physical characteristics of all subjects according to genotypes of polymorphisms Mean (SD) COL1A1 rs1800012 GG GT TT p value n 100 0 0 Age (yr) 22.0 (3.3) - - - Height (cm) 172.6 (5.5) - - - Body mass (kg) 67.9 (10.4) - - - COL5A1 rs12722 TT CT CC p value n 2 22 76 Age (yr) 21.0 (2.3) 22.1 (4.0) 22.1 (3.1) 0.894 Height (cm) 172.8 (2.4) 172.4 (4.8) 172.7 (5.8) 0.976 Body mass (kg) 66.1 (6.7) 70.2 (11.1) 67.4 (10.2) 0.771 GDF5 rs 143383 CC CT TT p value n 8 35 57 Age (yr) 21.6 (2.6) 21.3 (2.8) 22.5 (3.6) 0.214 Height (cm) 170.7 (8.3) 173.0 (4.8

... TT and CT) in knee extensors only (p=0.013). For GDF5 (Table 4 ) and MMP3 (Table 5 ), there were no significant differences (p>0.05) in the mechanical properties of tendon structures among the three genotype groups of each single nucleotide polymorphism. Table 3 Mechanical properties of tendon structures in COL5A1 rs12722 genotype groups Mean (SD) TT + CT CC n = 24 n = 76 p value Knee extensors MVC (Nm) 191 (55) 189 (57) 0.822 Maximal elongation (mm) 21.1 (5.4) 24.5 (5.4) 0.012 Maximal strain

... Discussion The main finding of this study was that subjects with a CC genotype of the COL5A1 gene had more extensible tendon structures compared to subjects with other genotypes (combined TT and CT) for knee extensors, but not for plantar flexors. To our knowledge, this is the first study to demonstrate the relationship between any mechanical properties of tendon structures and a gene polymorphism in vivo . This study suggested the possibility that tendon structures of individuals with a COL5A1 rs12722

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