Clinical significance of PAI-1 and FV gene polymorphisms and venous thrombosis
Objective To develop a new technology for detecting the gene polymorphism and expression levels of venous thrombosis-related gene plasminogen activator inhibitor-1(PAI-1)and coagulation factor Ⅴ(FV)loci,and to analyze the distribution of gene frequencied in the Qingyuan area and provide guidance for the clinical drug treatment of venous thrombosis. Methods DNA was extracted from 2281 patients who underwent venous thrombosis gene testing at Qingyuan People ' s Hospital from April 2020 to August 2021. Digital fluorescence molecular hybridization was used to detect the polymorphisms of venous thrombosis-related genes PAI-1 and FV. Sanger sequencing was performed for verification. Big data analysis was conducted at our hospital to determine the frequency of genotype distribution in the patient population. This analysis also assessed the risk of venous thrombosis in males,females,and patients with heart,cerebrovascular disease and cancer,with or without venous thrombosis genotype mutation. The findings of this analysis will guide the selection of antithrombotic drug types and concentrations. Results The results of digital fluorescence molecular hybridization and Sanger sequencing were completely consistent (100%). The big data analysis revealed that the PAI-1 gene in the population of this region exhibited polymorphism with frequencies of 19.33%, 50.33%,30.34%. However,the FV genotype mutation was rare,with the majority being wild homozygous (99.91%). The genotype frequency and allele frequency of PAI-1 and FV loci differed between males and females,but these differences were not statistically significant in patients with heart,cerebrovascular diseases and tumors(P>0.05). Furthermore,there was no significant correlation found between PAI-1 gene polymorphism and disease progression. Conclusion The detection of PAI-1 is of great clinical significance for the application of drugs for venous thrombosis. By assessing the genotype of venous thrombosis ,patients can be evaluated for the high and low risk of drug use,enabling precise individual treatment. Importantly,its polymorphism is not associated with other diseases and gender.