The Association of Variants within Types V and XI Collagen Genes with Knee Joint Laxity Measurements.

Joint laxity is a multifactorial phenotype with a heritable component. Mutations or common polymorphisms within the α1(V) (COL5A1), α1(XI) (COL11A1) and α2(XI) (COL11A2) collagen genes have been reported or proposed to associate with joint hypermobility, range of motion and/or genu recurvatum. The aim of this study was to investigate whether polymorphisms within these collagen-encoding genes are associated with measurements of knee joint laxity and computed ligament length changes within the non-dominant leg. One hundred and six healthy participants were assessed for genu recurvatum (knee hyperextension), anterior-posterior tibial translation, external-internal tibial rotation and ligament length changes during knee rotation of their non-dominant leg. Participants were genotyped for COL5A1 rs12722 (T/C), COL11A1 rs3753841 (C/T), COL11A1 rs1676486 (T/C) and COL11A2 rs1799907 (A/T). The genotype-genotype combination of any two or more of the four COL5A1 rs12722 CC, COL11A1 rs3753841 CC, COL11A1 rs1676486 TT and COL11A2 rs1799907 AA genotypes was associated with decreased active and passive knee hyperextension. These genotype-genotype combinations, including sex (male), increased age and decreased body mass collectively, also contributed to decreased passive knee hyperextension. These findings suggest that COL5A1, COL11A1 and COL11A2 gene-gene interactions are associated with knee hyperextension measurements of the non-dominant leg of healthy individuals.

Investigating the association between COL1A1 and COL3A1 gene variants and knee joint laxity and ligament measurements.

BACKGROUND: Joint laxity is a multifactorial phenotype with a heritable component. Type I collagen gene (COL1A1) mutations cause connective tissue disorders with joint hypermobility as a clinical feature, while variants within COL1A1 and type III collagen gene (COL3A1) are associated with musculoskeletal injuries. The aim of this study was to investigate whether COL1A1 and COL3A1 variants are associated with measurements of non-dominant knee joint laxity and computed ligament length changes. METHODS: 106 moderately active uninjured participants were assessed for genu recurvatum, anterior-posterior tibial translation, external-internal tibial rotation and calculated ligament length changes during knee rotation. Participants were genotyped for COL1A1 rs1107946, rs1800012 and COL3A1 rs1800255. FINDINGS: The COL1A1 rs1107946 GG genotype had significantly larger external rotation [GG: 5.7° (4.9°;6.4°) vs GT: 4.6° (4.2°;5.5°), adjusted P = 0.014], internal rotation [GG: 5.9° (5.3°;6.6°) vs GT: 5.4° (4.7°;6.2°), adjusted P = 0.014], and slack [GG: 18.2° ± 3.2° vs GT: 16.1° ± 3.1°, adjusted P = 0.014]. The GG genotype at both COL1A1 variants had significantly larger active displacement [GG + GG: 6.0 mm (3.8 mm;8.0 mm) vs other genotype combinations: 4.0 mm (2.5 mm;6.0 mm), P < 0.001] and maximum displacement [GG + GG: 8.0 mm (6.9 mm;10.6 mm) vs other genotype combinations: 6.0 mm (5.0 mm;9.0 mm), P = 0.003]. COL1A1 rs1107946 significantly contributed to increased external and internal rotation in multilinear regression models, while both COL1A1 variants, significantly contributed to increased active displacement and slack. Larger medial and lateral cruciate ligament length changes were reported in participants with GG genotypes at both COL1A1 variants. INTERPRETATION: These findings suggest that the COL1A1 variants are associated with knee rotational laxity and changes in ligament length.

Reliability of a Robotic Knee Testing Tool to Assess Rotational Stability of the Knee Joint in Healthy Female and Male Volunteers.

BACKGROUND: Several clinical tests exist to assess knee laxity. Although these assessments are the predominant tools of diagnosis, they are subjective and rely on the experience of the clinician. The robotic knee testing (RKT) device has been developed to quantitatively and objectively measure rotational knee laxity. The purpose of this study was primarily to determine the intra-tester reliability of rotational knee laxity and slack, the amount of rotation occurring between the two turning points of the load deformation curve, measured by the RKT device and investigate the differences between female and male measurements. METHODS: Ninety-one healthy and moderately active volunteers took part in the study, of which twenty-five participated in the reliability study. Tibial rotation was performed using a servomotor to a torque of 6 N m, while measurements of motion in all 6° of freedom were collected. Reliability measurements were collected over 5 days at similar times of the day. Intra-class correlation coefficient (ICC) values and standard error of measurement (SEM) were determined across the load deformation curves. Linear mixed effects modelling was used to further assess the reliability of the measurement of external and internal tibial rotation using features of the curve (internal/external rotational laxity and slack). Measurements of internal/external rotational laxity and slack were compared between the sexes using the Student t test. RESULTS: Pointwise axial rotation measurements of the tibia had good reliability [ICC (2,1) 0.83-0.89], while reliability of the secondary motions ranged between poor and good [ICC (2,1) 0.31-0.89]. All SEMs were less than 0.3°. Most of the variation of the curve features were accounted for by inter-subject differences (56.2-77.8%) and showed moderate to good reliability. Comparison of the right legs of the sexes revealed that females had significantly larger amounts of internal rotation laxity (females 6.1 ± 1.3° vs males 5.6 ± 0.9°, p = 0.037), external rotation laxity (females 6.0 ± 1.6° vs males 5.0 ± 1.2°, p = 0.002) and slack (females 19.2 ± 4.2° vs males 16.6 ± 2.9°, p = 0.003). Similar results were seen within the left legs. CONCLUSIONS: Overall, the RKT is a reliable and precise tool to assess the rotational laxity of the knee joint in healthy individuals. Finally, greater amounts of laxity and slack were also reported for females.

Kinematic and kinetic gait deviations in males long after anterior cruciate ligament reconstruction.

BACKGROUND: Biomechanical deviations long (approx. 5years) after anterior cruciate ligament reconstruction have not been quantified in males, despite their distinct risk profile as compared to females. These deviations can indicate altered joint loading during chronic, repetitive motions. METHODS: Cross-sectional study, comparing kinematic and kinetic variables between 15 male anterior cruciate ligament reconstructed patients and 15 healthy controls. During walking and running gait, measurements were taken of impact dynamics, knee and hip sagittal plane angles and moments, and knee varus angles and adduction moments. FINDINGS: Comparing affected limbs to control limbs, significantly lower maximum (P=0.001) and initial (P=0.003) loading rates were found during running, but not in walking. Hip angles were lower for affected limbs of patients compared to the control group (P=0.039) in walking, but not during running. Between-limb comparisons showed important differences in symmetry of the affected patients. Maximum force during running was higher in the unaffected limb (P=0.015), which was linked with a higher loading rate (P=0.008). Knee flexion angle was reduced by 2° on average for the affected limb during running (P=0.010), and both walking and running knee and hip moments showed differences. Knee varus angle showed a 1° difference during walking (P<0.001), but not during running. Knee adduction moment was significantly lower (more valgus) during both walking and running. INTERPRETATION: Male anterior cruciate ligament reconstructed patients demonstrate persistent, clinically important gait asymmetries and differences from healthy controls long after surgery in kinematics, kinetics, and impact biomechanics.