Dataset Information

Influence of type I collagen polymorphisms and risk of anterior cruciate ligament rupture in athletes: a case-control study.

ABSTRACT:

Background

Anterior cruciate ligament (ACL) rupture is a common and severe knee injury in sports and occurs mostly due to noncontact injuries. There is an increasing amount of evidence associating ACL rupture to single nucleotide polymorphisms (SNPs), and SNPs in the collagen type I genes can change its expression and tissue mechanical features. This study aimed to investigate the association between SNPs in COL1A1 and COL1A2 with sports-related ACL tears.

Methods

A total of 338 athletes from multiple sports modalities were analyzed: 146 were diagnosed with ACL rupture or underwent an ACL reconstruction surgery and 192 have no musculoskeletal injuries. SNPs were genotyped using validated TaqMan assays. The association of the polymorphisms with ACL rupture was evaluated by a multivariable logistic regression model, using odds ratios (OR) and 95% confidence intervals (CI).

Results

The age, sport modality, and training location were associated with an increased risk of a non-contact ACL tear. COL1A2 SNPs (rs42524 CC and rs2621215 GG) were associated with an increased risk of non-contact ACL injury (6 and 4-fold, respectively). However, no significant differences were detected in the distribution of COL1A1 rs1107946 and COL1A2 rs412777 SNPs between cases and controls. There was a protective association with ACL rupture (OR = 0.25; 95% CI = 0.07-0.96) between COL1A1 rs1107946 (GT or TT) and the wildtype genotypes of the three COL1A2 (rs412777, rs42524, rs2621215). COL1A2 rs42524 and rs2621215 SNPs were associated with non-contact ACL risk.

Conclusion

The combined analysis of COL1A1-COL1A2 genotypes suggests a gene-gene interaction in ACL rupture susceptibility.

SUBMITTER: Perini JA

PROVIDER: S-EPMC8848903 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature

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Publications

Influence of type I collagen polymorphisms and risk of anterior cruciate ligament rupture in athletes: a case-control study.

Perini Jamila Alessandra JA Lopes Lucas Rafael LR Guimarães João Antonio Matheus JAM Goes Rodrigo Araújo RA Pereira Luiz Fernando Alves LFA Pereira Camili Gomes CG Mandarino Marcelo M Villardi Alfredo Marques AM de Sousa Eduardo Branco EB Cossich Victor Rodrigues Amaral VRA

BMC musculoskeletal disorders 20220216 1

<h4>Background</h4>Anterior cruciate ligament (ACL) rupture is a common and severe knee injury in sports and occurs mostly due to noncontact injuries. There is an increasing amount of evidence associating ACL rupture to single nucleotide polymorphisms (SNPs), and SNPs in the collagen type I genes can change its expression and tissue mechanical features. This study aimed to investigate the association between SNPs in COL1A1 and COL1A2 with sports-related ACL tears.<h4>Methods</h4>A total of 338 a ...[more]

PMID: 35172811

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Project description:BackgroundAnterior cruciate ligament (ACL) graft rupture occurs at a high rate, especially in young athletes. The geometries of the tibial plateau and femoral intercondylar notch are risk factors for first-time ACL injury; however, little is known about the relationship between these geometries and risk of ACL graft rupture.HypothesisThe geometric risk factors for noncontact graft rupture are similar to those previously identified for first-time noncontact ACL injury, and sex-specific differences exist.Study designCase-control study; Level of evidence, 3.MethodsEleven subjects who suffered a noncontact ACL graft rupture and 44 subjects who underwent ACL reconstruction but did not experience graft rupture were included in the study. Using magnetic resonance imaging, the geometries of the tibial plateau subchondral bone, articular cartilage, meniscus, tibial spines, and femoral notch were measured. Risk factors associated with ACL graft rupture were identified using Cox regression.ResultsThe following were associated with increased risk of ACL graft injury in males: increased posterior-inferior-directed slope of the articular cartilage in the lateral tibial plateau measured at 2 locations (hazard ratio [HR] = 1.50, P = .029; HR = 1.39, P = .006), increased volume (HR = 1.45, P = .01) and anteroposterior length (HR = 1.34, P = .0023) of the medial tibial spine, and increased length (HR = 1.18, P = .0005) and mediolateral width (HR = 2.19, P = .0004) of the lateral tibial spine. In females, the following were associated with increased risk of injury: decreased volume (HR = 0.45, P = .02) and height (HR = 0.46, P = .02) of the medial tibial spine, decreased slope of the lateral tibial subchondral bone (HR = 0.72, P = .01), decreased height of the posterior horn of the medial meniscus (HR = 0.09, P = .001), and decreased intercondylar notch width at the anterior attachment of the ACL (HR = 0.72, P = .02).ConclusionThe geometric risk factors for ACL graft rupture are different for males and females. For females, a decreased femoral intercondylar notch width and a decreased height of the posterior medial meniscus were risk factors for ACL graft rupture that have also been found to be risk factors for first-time injury. There were no risk factors in common between ACL graft injury and first-time ACL injury for males.

Project description:BackgroundDespite good physical function, many athletes do not return to sports after an anterior cruciate ligament reconstruction (ACLR). One important reason for this is fear of new injury. The aim of this study was to investigate young athletes' experiences of knee-related fear after an ACLR and how they perceive this fear to affect them in their sporting and everyday life.MethodsA qualitative interview study was conducted, using semi-structured interviews. Athletes who were active in contact or pivoting sport before an ACL injury, with the goal of returning to the same sport and who scored highly on fear of new injury at six months post-ACLR, were asked to participate. Ten athletes (six women and four men, aged 17-25 years), were interviewed by an independent researcher, 7-9 months after ACLR. Content analysis employing an abductive approach was used.ResultsThe analysis resulted in three categories with associated subcategories: 1. The expressions of fear; (i) reason for fear, (ii) changes in fear over time, and (iii) injury situation. 2. Reactions, consequences, and adaptations; (i) reactions, (ii) behavioural adaptation and influence on rehabilitation and daily life, (iii) present consequences, and (iv) consequences for the future. 3. Fear and adaptations related to returning to sports; (i) fear related to returning to sports and, (ii) adaptations in sports and life due to fear. Fear was described in broad and complex ways, with fear of a new injury being expressed as one of several aspects. Various reasons (e.g., seeing others getting injured in the past, previous experience of injury, failed rehabilitation, perceived knee instability) were given to explain the fear, and athletes reacted both physically and mentally to fear. Both positive and negative adaptations to fear were described, in both daily life and sports.ConclusionThe results contribute to an increased understanding of fear as an essential psychological factor to consider during rehabilitation and leaves the way open for research to investigate how physiotherapists can work to manage fear better among ACLR patients.

Project description:PurposeCertain types of repetitive sub-maximal knee loading cause microfatigue damage in the human anterior cruciate ligament (ACL) that can accumulate to produce macroscopic tissue failure. However, monitoring the progression of that ACL microfatigue damage as a function of loading cycles has not been reported. To explore the fatigue process, a confocal laser endomicroscope (CLEM) was employed to capture sub-micron resolution fluorescence images of the tissue in situ. The goal of this study was to quantify the in situ changes in ACL autofluorescence (AF) signal intensity and collagen microstructure as a function of the number of loading cycles.MethodsThree paired and four single cadaveric knees were subjected to a repeated 4 times bodyweight landing maneuver known to strain the ACL. The paired knees were used to compare the development of ACL microfatigue damage on the loaded knee after 100 consecutive loading cycles, relative to the contralateral unloaded control knee, through second harmonic generation (SHG) and AF imaging using confocal microscopy (CM). The four single knees were used for monitoring progressive ACL microfatigue damage development by AF imaging using CLEM.ResultsThe loaded knees from each pair exhibited a statistically significant increase in AF signal intensity and decrease in SHG signal intensity as compared to the contralateral control knees. Additionally, the anisotropy of the collagen fibers in the loaded knees increased as indicated by the reduced coherency coefficient. Two out of the four single knee ACLs failed during fatigue loading, and they exhibited an order of magnitude higher increase in autofluorescence intensity per loading cycle as compared to the intact knees. Of the three regions of the ACL - proximal, midsubstance and distal - the proximal region of ACL fibers exhibited the highest AF intensity change and anisotropy of fibers.ConclusionsCLEM can capture changes in ACL AF and collagen microstructures in situ during and after microfatigue damage development. Results suggest a large increase in AF may occur in the final few cycles immediately prior to or at failure, representing a greater plastic deformation of the tissue. This reinforces the argument that existing microfatigue damage can accumulate to induce bulk mechanical failure in ACL injuries. The variation in fiber organization changes in the ACL regions with application of load is consistent with the known differences in loading distribution at the ACL femoral enthesis.

Project description:CONTEXT:Manual perturbation training improves knee functional performance and mitigates abnormal gait in patients with anterior cruciate ligament (ACL) rupture. However, manual perturbation training is time- and labor-intensive for therapists. OBJECTIVE:To investigate whether perturbation training administered using a mechanical device can provide effects similar to manual training on clinical measures and knee biomechanics after ACL rupture. DESIGN:Prospective cohort (therapeutic) study. A 2?×?2 analysis of variance was used for statistical analysis. SETTING:A clinical and biomechanical laboratory. PATIENTS:Eighteen level I/II patients with acute ACL ruptures participated in this preliminary study. INTERVENTION:Nine patients received mechanical perturbation training on an automated mechanical device (mechanical group), and 9 patients received manual perturbation training (manual group). OUTCOME MEASURES:Patients completed performance-based testing (quadriceps strength and single-legged hop tests), patient-reported questionnaires (Knee Outcome Survey-Activities of Daily Living Scale, Global Rating Score, and International Knee Documentation Committee 2000), and 3-dimensional gait analysis before (pretesting) and after (posttesting) training. RESULTS:There was no significant group-by-time interaction found for all measures (P???.18). Main effects of time were found for International Knee Documentation Committee 2000 (pretesting: 69.10 [10.95], posttesting: 75.14 [7.19]), knee excursion during weight-acceptance (pretesting: 16.01° [3.99°]; posttesting: 17.28° [3.99°]) and midstance (pretesting: 14.78° [4.13°]; posttesting: 16.92° [4.53°]) and external knee-flexion moment (pretesting: 0.43 [0.11] N m/kg/m; posttesting: 0.48 [0.11] N m/kg/m) (P???.04). After accounting for pretesting groups' differences, the mechanical group scored significantly higher on triple hops (mechanical: 96.73% [6.65%]; manual: 84.97% [6.83%]) and 6-m timed hops (mechanical: 102.07% [9.50%]; manual: 91.21 [9.42%]) (P???.047) compared with manual group. CONCLUSION:The clinical significance of this study is the mechanical perturbation training produced effects similar to manual training, with both training methods were equally effective at improving patients' perception of knee function and increasing knee excursion and external flexion moment during walking after acute ACL rupture. Mechanical perturbation training is a potential treatment to improve patients' functional and biomechanical outcomes after ACL rupture.

Dataset Information

Influence of type I collagen polymorphisms and risk of anterior cruciate ligament rupture in athletes: a case-control study.

Background

Methods

Results

Conclusion

Publications

Influence of type I collagen polymorphisms and risk of anterior cruciate ligament rupture in athletes: a case-control study.

Similar Datasets

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