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

The Division of Health and Life Sciences, University of Northampton, Northampton, United Kingdom.
Journal of science and medicine in sport / Sports Medicine Australia 03/2010; 13(6):630-2. DOI: 10.1016/j.jsams.2010.01.006
Source: PubMed


A recent heritability study has demonstrated that human range of motion (ROM) has a substantial genetic component. Furthermore, the COL5A1BstUI 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.

Download full-text


Available from: Malcolm Collins, Feb 01, 2016
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Background: Posterior tibial tendinopathy (PTT) is the most common cause of acquired (progressive) flatfoot deformity in adults. To date, PTT research has mainly focused on management rather than on causal mechanisms. The etiology of PTT is likely to be multifactorial because both intrinsic and extrinsic risk factors have been reported. We sought to critically evaluate reported etiologic factors for PTT and consider the concept of genetic risk factors. Methods: A detailed review of the literature published after 1936 was undertaken using English-language medical databases. Results: No clear consensus exists as to the relative importance of the risk factors reported, and neither has any consideration been given to a possible genetic basis for PTT. Conclusions: To date, studies have examined various intrinsic and extrinsic risk factors implicated in the etiology of PTT. The interaction of these factors with an individual's genetic background may provide valuable data and help offer a more complete risk profile for PTT. A properly constructed genetic association study to determine the genetic basis of PTT would provide a novel and alternative approach to understanding this condition.
    Full-text · Article · Sep 2014 · Journal of the American Podiatric Medical Association