A functional variant within the MMP3 gene does not associate with human range of motion

Abstract

A recent heritability study has demonstrated that human range of motion (ROM) has a substantial genetic component. Furthermore, the COL5A1 BstUI RFLP has now been identified as the first gene variant to be associated with human ROM. Interestingly, this variant is known to interact with a functional variant within the MMP3 gene (rs679620) to increase risk of Achilles tendinopathy. We sought to determine whether the MMP3 rs679620 variant was associated with ROM both as a single marker and as an interacting marker with the COL5A1 BstUI RFLP. One hundred and twenty one participants were included in this study. All participants were genotyped for the MMP3 rs679620 variant, and performed passive straight leg raise (SLR) and sit and reach (SR) measurements. There were no significant differences in left leg SLR (L-SLR), right leg SLR (R-SLR), or SR measurements between the genotype groups (L-SLR, P = 0.494; R-SLR, P = 0.435; SR, P = 0.266). Furthermore, there was no evidence of an interaction between the COL5A1 BstUI RFLP and the MMP3 rs679620 variant. Our study suggests that the MMP3 rs679620 variant does not associate with passive ROM.