Sequence variants within the 3′-UTR of the COL5A1 gene alters mRNA stability: Implications for musculoskeletal soft tissue injuries

Laguette, Mary-Jessica Nancy; Abrahams, Yoonus; Prince, Sharon; Collins, Malcolm

doi:10.1016/j.matbio.2011.05.001

Cited by 86 publications

(62 citation statements)

References 28 publications

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“…Tendinopathy is a common degenerative musculoskeletal disorder and is related to structural tissue changes, such as increased type III collagen content [23], which may adversely influence the mechanical and material properties of the tendon [24]. Recently, genetic variables have been suggested as intrinsic risk factors for tendinopathy in athletes [5, 7, 25, 26]. The genetic study applied to sport may suggest that specific measures targeted at athletes most likely to develop lesions, can be appropriate to reduce the risk of damage by controlling the training load and the exposure frequency in high mechanical stress actions on the joints.…”

Section: Discussionmentioning

confidence: 99%

Vascular Endothelial Growth Factor Receptor-2 Polymorphisms Have Protective Effect against the Development of Tendinopathy in Volleyball Athletes

et al. 2016

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The aim of the study was to investigate whether genetic variants in VEGF and KDR genes can be correlated with susceptibility of tendinopathy in volleyball athletes. This study was conducted at the Brazilian Volleyball Federation, and comprised 179 volleyball athletes: 88 had a confirmed diagnosis of tendinopathy (cases), whereas 91 had no evidence of the disease (controls). The VEGF (-2578C>A, -460T>C and +936C>T) and KDR (-604C>T, 1192G>A and 1719T>A) polymorphisms were determined by TaqMan real-time polymerase chain reaction. The odds ratio (OR) with their 95% confidence intervals (CI) were calculated using an unconditional logistic regression model. The evaluation of demographic and clinical characteristics revealed the athlete age (P < 0.001), years of practice in volleyball (P < 0.001) and presence of pain (P = 0.001) were risk factors for tendinopathy. KDR 1192 GA and GA + AA genotypes were associated with lower risk of tendinopathy (OR: 0.41, 95% CI: 0.19–0.88 and OR: 0.47, 95% CI: 0.23–0.98, respectively). The KDR (-604C>T, 1192G>A and 1719T>A) haplotypes CGA and CAT were associated with decreased tendinopathy risk (OR: 0.46, 95% CI: 0.21–0.99 and OR: 0.23, 95% CI: 0.07–0.76, respectively). With regards to pain, traumatic lesion and away from training due to injury, VEGF and KDR polymorphisms were not associated with clinical symptoms complaints. The present results provide evidence that the KDR polymorphisms were associated with development of tendinopathy, and can contribute to identify new therapeutic targets or personalized training programs to avoid tendinopathy development in athletes.

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Section: Discussionmentioning

confidence: 99%

Vascular Endothelial Growth Factor Receptor-2 Polymorphisms Have Protective Effect against the Development of Tendinopathy in Volleyball Athletes

et al. 2016

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“…According to previous findings (Birk, 2001; Roulet et al 2007), type V collagen expression levels are critical in determining fiber diameter and strength, although type V collagen is a quantitatively minor fibril-forming collagen. In addition, type V collagen gene expression can be, at least in part, determined by polymorphisms within the 3’-UTR of COL5A1 (Laguette et al 2011). Therefore, we may say that COL5A1 gene expression, and by implication type V collagen production, is one of the factors that determine the mechanical properties of human tendon structures.…”

Section: Discussionmentioning

confidence: 99%

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

2013

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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.

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“…22; 26 Classic EDS patients exhibit connective tissue hyperelasticity and laxity in a variety of tissues, suggesting that collagen V has a role in assembling the hierarchical structure responsible for the adequate function of soft connective tissues. In addition to generalized tissue hyperelasticity, mutations in the collagen V gene have been linked to injury, 27 performance deficiencies, 28 Achilles tendinopathy, 29 and anterior cruciate ligament (ACL) rupture. 30 Furthermore, classic EDS also is associated with a prevalence of joint problems, with the highest incidence of joint dislocations and surgeries occurring at the shoulder and knee joints, respectively.…”

Section: Introductionmentioning

confidence: 99%

Regulatory role of collagen V in establishing mechanical properties of tendons and ligaments is tissue dependent

Connizzo

Freedman

Fried

et al. 2015

Journal Orthopaedic Research

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Patients with classic (type I) Ehlers-Danlos Syndrome (EDS), characterized by heterozygous mutations in the Col5a1 and Col5a2 genes, exhibit connective tissue hyperelasticity and recurrent joint dislocations, indicating a potential regulatory role for collagen V in joint stabilizing soft tissues. This study asked whether the contribution of collagen V to the establishment of mechanical properties is tissue-dependent. We mechanically tested four different tissues from wild type and targeted collagen V-null mice: the flexor digitorum longus tendon (FDL), Achilles tendon (ACH), the anterior cruciate ligament (ACL) and the supraspinatus tendon (SST). Area was significantly reduced in the Col5a1ΔTen/ΔTen group in the FDL, ACH, and SST. Maximum load and stiffness were reduced in the Col5a1ΔTen/ΔTen group for all tissues. However, insertion site and midsubstance modulus were reduced only for the ACL and SST. This study provides evidence that the regulatory role of collagen V in extracellular matrix assembly is tissue-dependent and that joint instability in classic EDS may be caused in part by insufficient mechanical properties of the tendons and ligaments surrounding each joint.

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Sequence variants within the 3′-UTR of the COL5A1 gene alters mRNA stability: Implications for musculoskeletal soft tissue injuries

Cited by 86 publications

References 28 publications

Vascular Endothelial Growth Factor Receptor-2 Polymorphisms Have Protective Effect against the Development of Tendinopathy in Volleyball Athletes

Vascular Endothelial Growth Factor Receptor-2 Polymorphisms Have Protective Effect against the Development of Tendinopathy in Volleyball Athletes

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

Regulatory role of collagen V in establishing mechanical properties of tendons and ligaments is tissue dependent

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