Analysis of hereditary and medical risk factors in Achilles tendinopathy and Achilles tendon ruptures: a matched pair analysis.
ABSTRACT In Achilles tendon injuries, it is suggested that a pathological continuum might be evident from the healthy Achilles tendon to Achilles tendinopathy to Achilles tendon rupture. As such, risk factors for both tendinopathy and rupture should be the same.
Hereditary and medical risk factors for Achilles tendinopathy and Achilles tendon rupture are the same to a similar extent in a matched pair analysis.
Matched pair study; level of evidence: 3.
Recreational sportsmen as well as athletes on national level.
566 questionnaires were analysed. 310 subjects were allocated to 3 groups (A, B, C) after matching the pairs for age, weight, height and gender: (A) healthy Achilles tendons (n = 89, age 39 ± 11 years, BMI 25.1 ± 3.9, females 36%), (B) chronic Achilles tendinopathy (n = 161, age 41 ± 11 years, BMI 24.4 ± 3.7, females 34%), (C) acute Achilles tendon rupture (n = 60, age 40 ± 9 years, BMI 25.2 ± 3.2, females 27%).
We found a positive family history of Achilles tendinopathy as a risk factor for Achilles tendinopathy (OR: 4.8, 95% CI: 1.1-21.4; p = 0.023), but not for Achilles tendon rupture (OR: 4.0, 95% CI 0.7-21.1, p = 0.118). Smoking and cardiac diseases had a lower incidence in Achilles tendinopathy than in healthy subjects (both p = 0.001), while cardiovascular medication did not change the risk profile.
Identifying risk factors associated with Achilles tendon disorders has a high clinical relevance regarding the development and implementation of prevention strategies and programs. This cross-sectional study identified a positive family history as a significant solitary risk factor for Achilles tendinopathy, increasing the risk fivefold. However, in this matched pair analysis excluding age, weight, height and gender as risk factors no further factor necessarily increases the risk for either Achilles tendinopathy or Achilles tendon rupture.
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ABSTRACT: Three studies have suggested that the rare TT genotype of the functional Sp1 binding site polymorphism within intron 1 of COL1A1 is associated with cruciate ligament ruptures (CL), shoulder dislocations (SD) and/or Achilles tendon ruptures. Similar genotype distributions were reported for the control and the injury groups in all three studies. In this report, the data from these studies were combined and analyzed. The TT genotype, when compared to the control group (4.1%, n=24 of 581), was significantly under-represented in the (1) CL (0.3%, n=1 of 350, OR=15.0, P=0.0002), (2) CL and SD (0.4% TT genotype, n=2 of 476, OR=10.2, P<0.0001), and (3) CL, SD and Achilles tendon ruptures (0.4% TT genotype, n=2 of 517, OR=11.1, P<0.0001) groups. This combined analysis indicates that the TT genotype appears to be protective against acute soft tissue ruptures and should be incorporated into multifactorial models determining risk of acute soft tissue ruptures.British journal of sports medicine 02/2009; 44(14):1063-4. · 3.67 Impact Factor
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ABSTRACT: Procollagen chains assemble in a type-specific manner forming either homo- or heterotrimers. The molecular mechanisms underlying procollagen chain selectivity are unknown, although it is thought that the C-propeptide (COOH-terminal propeptide) is responsible for directing chain recognition and assembly. To define the processes involved in chain selection we reconstituted the initial stages of procollagen folding and assembly in a cell-free system. Using human pro-alpha 1(III) and pro-alpha 2(I) chains as prototypes of chains that are either capable or incapable of forming homotrimeric molecules, respectively, we constructed two minigenes (p alpha 1(III) delta 1 and p alpha 2(I) delta 1) that lacked most of the triple helical domains. The minigenes were transcribed in vitro and translated in a rabbit reticulocyte lysate supplemented with microsomal membranes under conditions that favored disulfide bond formation. Both pro-alpha 1(III) delta 1 and pro-alpha 2(I) delta 1 chains formed intrachain disulfide bonds within the C-propeptide. However, only pro-alpha 1(III) delta 1 chains were able to self-associate forming homotrimers stabilized by interchain disulfide bonds. The C-propeptide of the pro-alpha 1(III) chain contains 8 cysteine residues (Cys-1-8). We used a site-directed mutagenesis to investigate the role of specific cysteine residues in trimer formation and found that substitution of serine for Cys-1, Cys-2, Cys-3, and Cys-4 prevented interchain disulfide bonding and trimerization. Furthermore, mutations in Cys-1 and Cys-4 also prevented intrachain disulfide bond formation within the C-propeptide. The C-propeptide of the pro-alpha 2(I) chain contains only 7 cysteine residues, lacking cysteine at position 2. Substitution of the existing Ser residue with Cys did not produce a homotrimeric phenotype, indicating that additional recognition signals are required to determine chain selection.Journal of Biological Chemistry 10/1994; 269(39):24354-60. · 4.65 Impact Factor
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ABSTRACT: Although there is a high incidence of tendon injury as a result of participation in physical activity, the mechanisms responsible for such injuries are poorly understood. Investigators have suggested that some people may have a genetic predisposition to develop tendon injuries; in particular, genes on the tip of the long arm of chromosome 9 might, at least in part, be associated with this condition. The tenascin-C gene, which has been mapped to chromosome 9q32-q34, encodes for a structural component of tendons. The tenascin-C gene is associated with Achilles tendon injury. Case control study; Level of evidence, 3. A total of 114 physically active white subjects with symptoms of Achilles tendon injury and 127 asymptomatic, physically active white control subjects were genotyped for the guanine-thymine dinucleotide repeat polymorphism within the tenascin-C gene. A significant difference in the allele frequencies of this polymorphism existed between the 2 groups of subjects (chi(2) = 51.0, P = .001). The frequencies of the alleles containing 12 repeats (symptomatic group, 18.9% vs control group, 10.2%) and 14 repeats (symptomatic group, 9.2% vs control group, 0.8%) were significantly higher in the symptomatic group, while the frequencies of the alleles containing 13 repeats (symptomatic group, 8.8% vs control group, 24.0%) and 17 repeats (symptomatic group, 7.5% vs control group, 20.1%) were significantly lower in this same group. Subjects who were homozygous or heterozygous for the underrepresented alleles (13 and 17 repeats) but who did not possess an overrepresented allele (12 and 14 repeats) may have a lower risk of developing Achilles tendon injuries (odds ratio, 6.2; 95% confidence interval, 3.5-11.0; P < .001). The guanine-thymine dinucleotide repeat polymorphism within the tenascin-C gene is associated with Achilles tendon injury. Alleles containing 12 and 14 guanine-thymine repeats were overrepresented in subjects with tendon injuries, while the alleles containing 13 and 17 repeats were underrepresented. Persons who have variants of the tenascin-C gene with 12 and 14 guanine-thymine repeats appear to have a 6-fold risk of developing Achilles tendon injuries.The American Journal of Sports Medicine 07/2005; 33(7):1016-21. · 4.44 Impact Factor