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.
[Show abstract][Hide abstract] ABSTRACT: Spinal range of motion is evaluated in assessing patients with back problems and monitoring outcomes, as well as in general fitness assessments. Yet, determinants of the substantial interindividual variation in spinal range of motion are not well understood. Substantial genetic effects on global measures of range of motion and hypermobility have been suggested from earlier studies, but genetic influences specifically on spinal range of motion have not been previously studied. The objectives of the present study were to investigate the relative role of genetic and environmental influences on lumbar range of motion in adult men and the pathways through which genes may influence range of motion. Thus we conducted a classic twin study of 300 monozygotic and dizygotic male twin pairs with consideration of covariates, using standard statistical methods. All subjects underwent a clinical examination, including general anthropometrics, lumbar range of motion, and lumbar MRI to assess disc degeneration, as well as an extensive interview on environmental and behavioral exposures and back pain history. We found the proportion of variance in lumbar range of motion attributable to genetic influences (heritability estimate) to be 47%. The extent of lumbar range of motion in flexion was predominantly determined by genetic influences (64%), while extension was influenced to a somewhat greater degree by environmental and behavioral factors. Statistically significant age-adjusted genetic correlations were found between lumbar extension and disc degeneration variables (r(a) = -0.38 to -0.43) and between flexion and body weight (r(a) = -0.33), suggesting two pathways through which genes influence lumbar range of motion.
[Show abstract][Hide abstract] ABSTRACT: There is an interest in identifying the intrinsic risk factors, including altered musculotendinous flexibility, that may be associated with musculotendinous injuries. We have recently shown that a sequence variant, namely the BstUI restriction fragment length polymorphism (RFLP), within the COL5A1 gene is associated with chronic Achilles tendinopathy. Mutations within COL5A1 have been implicated in Ehlers Danlos syndrome, a condition that is characterized by joint hypermobility. The aim of this study was to investigate the association of sequence variants within COL5A1 and musculotendinous range of motion (ROM). The sit and reach (SR) and the passive straight leg raise (SLR) were measured on 119 Caucasian subjects with either a past, current or no history of Achilles tendon injuries. The subjects were genotyped for four sequence variants within the 3'-UTR of the COL5A1 gene. Gender (P=0.016), age (P=0.011) and the BstUI RFLP (P=0.010) jointly contributed significantly to the optimal SLR model which accounted for 19.3% of the variance. The factors contributing significantly to SR, which accounted for 28.8% of the variance, were weight (P=0.004), age (P<0.001) and the BstUI RFLP (P=0.001). These data suggest that the COL5A1 BstUI RFLP is independently associated with lower limb ROM within the cohort investigated in this study.
Scandinavian Journal of Medicine and Science in Sports 04/2009; 19(6):803-10. DOI:10.1111/j.1600-0838.2009.00915.x · 2.90 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: A COL5A1 gene variant was shown to be associated with chronic Achilles tendinopathy in a South African population. The aim of this case-control genetic association study was to investigate the BstUI and DpnII restriction fragment length polymorphisms (RFLP) in a second population from Australia and to identify a predisposing haplotype for Achilles tendinopathy in both populations.
85 Australian and 93 South African patients with tendinopathy, as well as 210 Australian and 132 white South African control subjects were genotyped for the BstUI (rs12722) and DpnII (rs13946) RFLP, as well as markers rs10858286, rs3196378, rs11103544, rs4504708 and rs3128575.
The BstUI RFLP (p<0.001) and marker rs3196378 (p = 0.016) were associated with chronic Achilles tendinopathy in Australian subjects. Individuals within both populations with a CC genotype for the BstUI RFLP had a significantly decreased risk of developing tendinopathy versus any other genotypes (Australian odds ratio 0.42, 95% CI 0.20 to 0.86, p = 0.017). The TC inferred haplotype (rs12722, rs3196378) was found to be overrepresented (global p = 0.008) in the South African tendinopathy group compared with all other haplotypes.
The BstUI RFLP is associated with chronic Achilles tendinopathy in a second population and a region within the COL5A1 3' untranslated region may predispose individuals to an increased risk of developing chronic Achilles tendinopathy.
British Journal of Sports Medicine 05/2008; 43(5):357-65. DOI:10.1136/bjsm.2008.048793 · 5.03 Impact Factor
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