Although various intrinsic and extrinsic risk factors for anterior cruciate ligament (ACL) rupture have been identified, the exact aetiology of the injury is not yet fully understood. Type III collagen is an important factor in the repair of connective tissue, and certain gene polymorphisms may impair the tensile strength. The aim of this study was to examine the association of the COL3A1 rs1800255 polymorphism with ACL rupture in Polish male recreational skiers. A total of 321 male Polish recreational skiers were recruited for this study; 138 had surgically diagnosed primary ACL ruptures (ACL-injured group) and 183 were apparently healthy male skiers (control group - CON) who had no self-reported history of ligament or tendon injury. Both groups had a comparable level of exposure to ACL injury. Genomic DNA was extracted from the oral epithelial cells. All samples were genotyped on a real-time polymerase chain reaction instrument. The genotype distribution in the ACL-injured group was significantly different than in CON (respectively: AA=10.1 vs 2.2%, AG=22.5 vs 36.1, GG=67.4 vs 61.8%; p=0.0087). The AA vs AG+GG genotype of COL3A1 (odds ratio (OR)=5.05; 95% confidence interval (CI), 1.62-15.71, p=0.003) was significantly overrepresented in the ACL-injured group compared with CON. The frequency of the A allele was higher in the ACL-injured group (21.4%) compared with CON (20.2%), but the difference was not statistically significant (p=0.72). This study revealed an association between the COL3A1 rs1800255 polymorphism and ACL ruptures in Polish skiers.

Context: The most commonly injured body part for skiing has been found to be the knee. The rupture of the anterior cruciate ligament (ACL) was the most frequent diagnosis. ACL ruptures are determined by several extrinsic and intrinsic risk factors including those that are hormonal, neuromuscular, anatomical, or genetic.Objectives: To examine the association of both COL1A1 rs1800012 (+1245G/T) and COL1A1 rs1107946 (–1997G/T) polymorphisms, individually and as haplotypes, with ACL ruptures in recreational Polish skiers.Design: Genomic DNA was extracted from buccal cells donated by the subjects, and genotyping was carried out using real-time polymerase chain reaction.Settings: University laboratory.Participants: 138 male recreational skiers with surgically diagnosed primary ruptures and 183 apparently healthy male recreational skiers not differing markedly in age or level of exposure to ACL injury.Main Outcome Measures: COL1A1 rs1800012 and COL1A1 rs1107946 polymorphisms.Results: There were significant differences in genotype distribution of the COL1A1 rs1800012 polymorphism between the ACL rupture group and the control group. The GG homozygotes were underrepresented in the ACL rupture group compared with the control group. There were no significant differences in genotype distribution or allele frequency of COL1A1 rs1107946 polymorphisms between the ACL rupture group and the control group. The G-G (COL1A1 rs1800012G and COL1A1 rs1107946G) haplotype was the most common. There were no significant differences in haplotype distribution between the ACL-rupture and control groups.Conclusion: The study showed that GG homozygotes were underrepresented in the ACL-rupture group compared with the control group, which suggests an association with reduced risk of ACL injury.

Introduction: Substance use disorder (SUD) is a significant global clinical issue marked by the excessive consumption of alcohol, nicotine, and various psychoactive substances, leading to impaired social, cognitive, and occupational functioning. Individuals with SUD frequently experience depression and anxiety disorders, which exacerbate their prognosis and contribute to substantial health and social burdens. The pathophysiology of SUD and its associated conditions is multifaceted, involving multiple dysfunctions in the brain. This complexity underscores an urgent need for the development of noninvasive treatments that can directly target the brain. One of them is transcranial direct current stimulation (tDCS), an intensively studied technique for safely modulating cortical excitability. The aim of this study is to investigate the effectiveness of tDCS in treating symptoms of depression and anxiety in SUD. Methods: With an emphasis on the underlying mechanisms of action, this mechanistic review investigates the effectiveness of tDCS in treating anxiety and depression in SUD patients. Literature searches were conducted using the PubMed/Medline, ResearchGate, Cochrane, and Google Scholar databases. Results: The review identified 12 relevant studies. The results showed that left dorsolateral prefrontal cortex (DLPFC) stimulation is an effective treatment option for depression in SUD. In anxiety disorders, left and right DLPFC stimulation is effective, with better results observed with right DLPFC stimulation. However, the included studies differed in their methodology, sample characteristics, and measurement methods, which could have influenced the final results of the analysis. The central focus of this mechanistic review is to discuss the potential mechanisms of action of tDCS in treating depression and anxiety in SUD. These mechanisms include the modulation of brain networks, a reduction in neuroinflammation, an enhancement in neuroplasticity, and an increase in P300 amplitude. We also discuss the limitations of the included studies and propose ways to address them in future research. Conclusions: This review provides evidence that tDCS is an effective treatment option for anxiety and depression in SUD. Stimulation of the left DLPFC reduces symptoms of depression, while stimulation of the right DLPFC reduces symptoms of anxiety. However, future research is required to confirm these findings and to deepen our understanding of the mechanisms through which tDCS exerts its effects in this context. Neuroimaging methods (fMRI and EEG) and blood tests could be particularly useful.

Anterior cruciate ligament rupture is one of the most common knee injuries in sports. Although various intrinsic and extrinsic risk factors have been identified, the exact aetiology of the injury is not yet fully understood. Single nucleotide polymorphisms (SNPs) in the collagen type I (COL1A1) gene have been shown to be associated with several complex connective tissue disorders. The aim of this study was to examine the association of -1997G/T polymorphisms in the COL1A1 gene with ACL ruptures in Polish recreational skiers in a case-control study. A total of 180 male and female recreational skiers with surgically diagnosed with primary ACL ruptures were recruited for the study, all of whom qualified for ligament reconstruction. The control group was comprised of 245 apparently healthy male and female skiers with a comparable level of exposure to ACL injury, none of whom had any self-reported history of ligament or tendon injury. DNA samples extracted from the oral epithelial cells were genotyped for -1997G/T polymorphisms using PCR method. Genotype distribution in the cases (GG-82.2% GT-16.7%; TT-1.1%) showed significant difference (P=0.036) compared to controls (GG-71.4% GT-26.5%; TT-2.2%). The frequency of the GG genotype in the ACL rupture group was also statistically significant (p=0.011, Fisher's exact test recessive mode: GG vs GT+TT). The frequency of the G allele was higher in these cases (90.6%), and also statistically significant (p=0.012) when compared with controls (84.7%). The results obtained indicate that the -1997G/T COL1A1 gene is one of the genetic markers to be taken into the consideration in the identification of the risk of ACL injury.