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The VEGFA gene and anterior cruciate ligament rupture risk in the Caucasian population.

ABSTRACT: The aim of the present study was to analyse VEGFA rs699947, rs1570360, and rs2010963 polymorphisms with susceptibility to anterior cruciate ligament rupture (ACLR) in a Polish population. The study included 412 physically active Caucasian participants. The study group consisted of 222 individuals with surgically diagnosed primary ACLR qualified for ligament reconstruction (ACLR group). The control group consisted of 190 apparently healthy participants without any history of ACLR (CON group). Three polymorphisms within the VEGFA (rs699947, rs1570360, and rs2010963) gene were chosen for investigation due to their significance in the angiogenesis signalling pathway and previous associations with risk of ACLRs. Both single-locus and haplotype-based analyses were conducted. No significant differences in the allele and genotype frequency distributions were noted for the rs699947 and rs1570360 polymorphisms. In contrast, rs2010963 was associated with risk of ACLR in the codominant (p=0.047) and recessive model (p=0.017). In the latter, the CC genotype was overrepresented among individuals with ACL rupture (23.4% vs 14.2%, OR=1.85 [1.11-3.08]). Two VEGFA haplotypes were associated with ACLR under the additive (global score=11.39, p=0.022) and dominant model (global score=11.61, p=0.020). The [C;G;G] haplotype was underrepresented in the ACLR group (52.2% vs. 60.3%), whereas the [C;G;C] haplotype was overrepresented (2.9% vs 0.5%). The results obtained suggest a potential correlation between the VEGFA rs2010963 polymorphism and ACLR risk, suggesting that harbouring this specific C allele may be an unfavourable risk factor for a knee injury in Caucasian participants from Poland.

SUBMITTER: Lulinska-Kuklik E

PROVIDER: S-EPMC6413576 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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The <i>VEGFA</i> gene and anterior cruciate ligament rupture risk in the Caucasian population.

Lulińska-Kuklik Ewelina E Leźnicka Katarzyna K Humińska-Lisowska Kinga K Moska Waldemar W Michałowska-Sawczyn Monika M Ossowski Zbigniew Z Maculewicz Ewelina E Cięszczyk Paweł P Kaczmarczyk Mariusz M Ratkowski Wojciech W Ficek Krzysztof K Zmijewski Piotr P Leońska-Duniec Agata A

Biology of sport 20181005 1

The aim of the present study was to analyse <i>VEGFA</i> rs699947, rs1570360, and rs2010963 polymorphisms with susceptibility to anterior cruciate ligament rupture (ACLR) in a Polish population. The study included 412 physically active Caucasian participants. The study group consisted of 222 individuals with surgically diagnosed primary ACLR qualified for ligament reconstruction (ACLR group). The control group consisted of 190 apparently healthy participants without any history of ACLR (CON grou ...[more]

PMID: 30899133

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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: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

The VEGFA gene and anterior cruciate ligament rupture risk in the Caucasian population.

Publications

The <i>VEGFA</i> gene and anterior cruciate ligament rupture risk in the Caucasian population.

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