Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.

Thrombotic and microangiopathic effects have been reported in COVID-19 patients. This study examined the contribution of the hereditary thrombophilia factors Prothrombin (FII) and Factor V Leiden (FVL) genotypes to the severity of COVID-19 disease and the development of thrombosis. This study investigated FII and FVL alleles in a cohort of 9508 patients (2606 male and 6902 female) with thrombophilia. It was observed that 930 of these patients had been infected by SARS-CoV-2 causing COVID-19. The demographic characteristics of the patients and their COVID-19 medical history were recorded. Detailed clinical manifestations were analyzed in a group of cases (n = 4092). This subgroup was age and gender-matched. FII and FVL frequency data of healthy populations without thrombophilia risk were obtained from Bursa Uludag University Medical Genetic Department's Exome Databank. The ratio of males (31.08%; 27.01%) and the mean age (36.85 ± 15.20; 33.89 ± 14.14) were higher among COVID-19 patients compared to non-COVID-19 patients. The prevalence of FVL and computerized tomography (CT) positivity in COVID-19 patients was statistically significant in the thrombotic subgroup (p < 0.05). FVL prevalence, CT positivity rate, history of thrombosis, and pulmonary thromboembolism complication were found to be higher in deceased COVID-19 patients (p < 0.05). Disease severity was mainly affected by FVL and not related to genotypes at the Prothrombin mutations. Overall, disease severity and development of thrombosis in COVID-19 are mainly affected by the variation within the FVL gene. Possible FVL mutation should be investigated in COVID-19 patients and appropriate treatment should be started earlier in FVL-positive patients.

Relationship of Plasminogen Activator Inhibitor 1 4G/5G Gene Polymorphism and Nontraumatic Lunatum Avascular Necrosis.

PURPOSE: Plasminogen activator inhibitor 1 (PAI-1) is a critical enzyme that regulates coagulation and fibrinolytic systems. The aim of this study was to determine the role of PAI-1 4G/5G polymorphism in nontraumatic avascular necrosis of the lunate. METHODS: The study included 45 patients with Kienböck disease and 45 healthy individuals as a control group. In both groups, genomic DNA was extracted from peripheral blood samples to determine the distributions of PAI-1 4G/5G polymorphism using allele-specific polymerase chain reaction and sequencing. RESULTS: No statistically significant difference was determined in the distribution of the gene polymorphism between the patient and control groups. We found the 5G/5G genotype to be 1.7 times higher in the control group compared with the patient group. A 1.6-fold increase in the 4G homozygote genotype was identified in the patient group. The patient and control groups were also evaluated for 4G/4G plus 4G/5G and 5G/5G in terms of genotype distribution. No statistically significant difference was found. CONCLUSIONS: The findings suggest that the PAI-1 4G/4G polymorphism is not a genetic risk for Kienböck disease. CLINICAL RELEVANCE: This study aimed to reveal the genetic etiology of Kienböck disease.