This study was conducted to investigate the genotype and allele distributions of COL3A1 (rs1800255) and COL5A1 (rs12722) polymorphisms of professional footballers who have suffered at least 2 anterior cruciate ligament (ACL) injuries non-contact and professional footballers who have never had a ligament injury. The research group consists of 108 professional men's football players ACL group (n=45), Control group (n=63) with at least 10 years of football background. The results ACL and control groups were compared by Chi-square or Fischer’s exact test. There were no significant differences noted neither in terms of genotype distribution of COL3A1 (rs1800255) nor A-allele frequency distribution between control (CON) and ACL group. A highly significant difference in the allele distribution was noted for COL5A1 (rs12722) with the T-allele significantly less frequent in CON than ACL. The TT genotype compared to the C alleles (TC + CC) showed significant relationship between the TT genotype and ACL injury potential in the dominant model. However, it was not showing significance in the recessive (TT + TC vs. CC). In conclusion, it can be said that professional football players who have the COL5A1 rs12722 C allele have about 2 times lower risk of anterior cruciate ligament injury. In the COL3A1 rs1800255 polymorphism, there is no relationship between the groups in terms of genotypes and allele distribution.
1 January 2025 in Revista da Associação Médica Brasileira
OBJECTIVE: This study aims to investigate the relationship between vascular endothelial growth factor gene polymorphisms and Crimean–Congo hemorrhagic fever
30 April 2025 in Frontiers in Life Sciences and Related Technologies
COVID-19 is an inflammatory disease characterized by a severe immune response, the pathogenesis of which is mediated by many cytokines. It was determined that the cytokine storm that occurs during severe infection may trigger coagulopathy by disrupting the interaction between platelets, endothelium, and leukocytes. Selectins (P-SELECTIN, L-SELECTIN, E-SELECTIN) are active in the mammalian immune system, especially in tissues. They are important adhesion molecules that play a part in the formation of the inflammatory response and the healing process. In this study, the probable effects of L-SELECTIN, P-SELECTIN, and E-SELECTIN gene variations on the pathogenesis of COVID-19 (on the severity and course of the disease) were investigated. In this direction, 44 controls and 129 patients (45 mild symptoms, 30 ward patients, and 54 intensive care patients) were included in the study. Genotyping of selectin polymorphisms was performed by the PCR-Restriction Fragment-Length Polymorphism (RFLP) techniques. In E-SELECTIN, CC genotype and C allele frequency were higher in inpatients than in the control group. The allele frequency and AA genotype were higher in the control group (p = 0.0001). No significant relationship was detected with P-SELECTIN and L-SELECTIN polymorphisms. In addition, the binary genotype distribution between the loci studied in our study and the control groups was also examined. Statistically significant differences were detected in P-SELECTIN/E-SELECTIN and E-SELECTIN/L-SELECTIN binary genotypes. Therefore, it was concluded that binary genotypes may affect disease severity or the course of the disease.