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Collagen gene variants previously associated with anterior cruciate ligament injury risk are also associated with joint laxity.

ABSTRACT: Genetic association studies demonstrate a relationship between several collagen gene variants and anterior cruciate ligament (ACL) injury, yet the mechanism of these relationships is still unclear. Joint laxity is a heritable trait; increased magnitudes of anterior knee laxity (AKL), genu recurvatum (GR), and general joint laxity (GJL) have been consistently associated with a greater risk of ACL injury. Joint laxity may constitute an important intermediate phenotype for the genetic association with ACL injury that can be measured clinically.To determine if genetic variants within the COL1A1, COL5A1, and COL12A1 genes, previously associated with ACL injury, were also associated with greater magnitudes of AKL, GR, and GJL.Descriptive laboratory study.Blood samples and measures of AKL, GR, and GJL were obtained from 124 (50 male, 74 female) healthy, recreationally active subjects. Genomic DNA was extracted from the blood samples and genotyped for single-nucleotide polymorphisms previously examined relative to ACL injury. Univariate analyses of variance compared the magnitude of each laxity variable across the 3 genotypes for each single-nucleotide polymorphism in both sex-combined and sex-specific models.Specific genotypes were associated with greater GR in all subjects. Some genotypes were associated with greater magnitudes of GR, AKL, and GJL in females only.Gene variants previously associated with ACL injury risk were in large part also associated with joint laxity. Sex-specific genetic associations with joint laxity were consistent with those previously reported for ACL injury.These data provide insight into potential pathways through which genotypic variants in collagen genes have the potential to alter ligament structure and behavior and, thus, ACL injury risk.

SUBMITTER: Bell RD

PROVIDER: S-EPMC3435918 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature

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Collagen gene variants previously associated with anterior cruciate ligament injury risk are also associated with joint laxity.

Bell Richard D RD Shultz Sandra J SJ Wideman Laurie L Henrich Vincent C VC

Sports health 20120701 4

<h4>Background</h4>Genetic association studies demonstrate a relationship between several collagen gene variants and anterior cruciate ligament (ACL) injury, yet the mechanism of these relationships is still unclear. Joint laxity is a heritable trait; increased magnitudes of anterior knee laxity (AKL), genu recurvatum (GR), and general joint laxity (GJL) have been consistently associated with a greater risk of ACL injury. Joint laxity may constitute an important intermediate phenotype for the ge ...[more]

PMID: 23016102

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Project description:Anterior cruciate ligament (ACL) injury predisposes individuals to early-onset knee joint osteoarthritis (OA). Abnormal joint loading is apparent after ACL injury and reconstruction. The relationship between altered joint biomechanics and the development of knee OA is unknown.Altered knee joint kinetics and medial compartment contact forces initially after injury and reconstruction are associated with radiographic knee OA 5 years after reconstruction.Case-control study; Level of evidence, 3.Individuals with acute, unilateral ACL injury completed gait analysis before (baseline) and after (posttraining) preoperative rehabilitation and at 6 months, 1 year, and 2 years after reconstruction. Surface electromyographic and knee biomechanical data served as inputs to an electromyographically driven musculoskeletal model to estimate knee joint contact forces. Patients completed radiographic testing 5 years after reconstruction. Differences in knee joint kinetics and contact forces were compared between patients with and those without radiographic knee OA.Patients with OA walked with greater frontal plane interlimb differences than those without OA (nonOA) at baseline (peak knee adduction moment difference: 0.00 ± 0.08 N·m/kg·m [nonOA] vs -0.15 ± 0.09 N·m/kg·m [OA], P = .014; peak knee adduction moment impulse difference: -0.001 ± 0.032 N·m·s/kg·m [nonOA] vs -0.048 ± 0.031 N·m·s/kg·m [OA], P = .042). The involved limb knee adduction moment impulse of the group with osteoarthritis was also lower than that of the group without osteoarthritis at baseline (0.087 ± 0.023 N·m·s/kg·m [nonOA] vs 0.049 ± 0.018 N·m·s/kg·m [OA], P = .023). Significant group differences were absent at posttraining but reemerged 6 months after reconstruction (peak knee adduction moment difference: 0.02 ± 0.04 N·m/kg·m [nonOA] vs -0.06 ± 0.11 N·m/kg·m [OA], P = .043). In addition, the OA group walked with lower peak medial compartment contact forces of the involved limb than did the group without OA at 6 months (2.89 ± 0.52 body weight [nonOA] vs 2.10 ± 0.69 body weight [OA], P = .036).Patients who had radiographic knee OA 5 years after ACL reconstruction walked with lower knee adduction moments and medial compartment joint contact forces than did those patients without OA early after injury and reconstruction.

Project description:BackgroundThe prevalence of patellofemoral joint (PFJ) osteoarthritis (OA) after anterior cruciate ligament (ACL) injury was inconsistently reported in the literature. This review summarises the reported prevalence of PFJ OA and risk factors of PFJ OA after ACL injury.MethodsPubMed, Embase, WoS, and MEDLINE (OVID) were searched up to 1 March 2019. A modified version of the Coleman methodology score was used to assess the methodological quality of the included studies. Prevalence of PFJ OA was pooled depended on different interventions in ACL injured populations.ResultsThirty-eight studies were included. Five different radiographic classification methods were used: the Kellgren and Lawrence Grade 2, IKDC Grade B, Fairbank Grade 1, joint space narrowing of Grade 2 based on OARSI, and Ahlbäck Grade 1. One included study used MRI Osteoarthritis Knee Score to evaluate PFJ degenerative changes. The overall prevalence of PFJ OA after ACL injury in included studies varied between 4.5% and 80%. The large variation of PFJ OA prevalence is mainly because of different follow-up period and surgical techniques. The pooled data showed that bone-patellar tendon-bone graft, single-bundle ACL reconstruction (ACLR), and delayed ACLR are likely associated with PFJ degenerative changes after ACL injury. ACLR, delayed ACLR, body mass index (BMI), meniscectomy, patellofemoral chondral lesions, age at surgery, and TFJ OA were identified in the literature inducing PFJ OA after ACL injury.ConclusionsLarge variations of PFJ OA after ACL injury are associated with different follow-up period and surgical techniques. ACL reconstructed population with bone-patellar tendon-bone graft, single-bundle reconstruction, and delayed operation time has a high prevalence of PFJ OA.The translational potential of this articleThis review focuses more on the effect of surgical technique factors on the degenerative changes on PFJ. The results reveal that BPTB, single-bundle reconstruction, and delayed ACLR are more likely associated with PFJ degenerative changes after ACL injury. These findings imply that awareness of PFJ problems after surgical intervention will remind of surgeons taking PFJ into consideration in operations, which is likely to reduce the incidences of anterior knee pain, patellar maltracking, and over-constrained patella in the early stage after surgery.

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Collagen gene variants previously associated with anterior cruciate ligament injury risk are also associated with joint laxity.

Publications

Collagen gene variants previously associated with anterior cruciate ligament injury risk are also associated with joint laxity.

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