Detection of Plasminogen Activator Inhibitor-1 Gene Mutation 4G/5G among Deep Venous Thrombosis Sudanese Adult Patients in Khartoum State

Abstract

A number of prothrombotic and fibrinolytic disorders may lead to venous thromboembolism(VTE). Venous thrombo embolism(VTE) includes deep vein thrombosis (DVT)and pulmonary embolism(PE).The disease is caused by many factors some of which are congenital and others are acquired. A 4G/5G polymorphism located in the promoter region of plasminogen activator inhibitor-1 (PAI-1) gene has been found to be commonly associated with the high levels of PAI-1 and might be a risk factor for deep vein thrombosis (DVT).In this study we aimed to investigate the relationship between genetic mutation in PAI-1 and the association with deep venous thrombosis. This is a cross sectional study which was conducted in Khartoum state during the period from April 2018 to March 2019. Eighty individuals were included in this study. Forty are represent the patient group. Nine males and Thirty one were females ;median age 36.5 years ranging from 18 to 55 years. The control group (healthy volunteers) included twenty three men and seventeen women; median age 34.5 years; ranging from 18 to 51 years. Among study group 20 %(16/40) were pregnant women, 32.5%(26/40) women tacking contraceptive pills, 5%(4/40) smokers and 6.2 %(5/40) Were obese. Blood samples were collected under sterile condition. Two milliliter of whole blood poured in ethylene di amine tetra acetic acid (EDTA) anticoagulant container which used for the molecular techniques. Analysis done in Research lab of Sudan University of Science and Technology, and the genetic mutation detected by using Allele Specific Polymerase Chain Reaction(ASPCR). The results of genetic analysis showed that: plasminogen activator inhibitor-1(PAI-1) 4G/4G allele had the highest prevalence in the all individuals participate in this study(17(21.2%)) , the 5G/5G , 4G/5G alleles had less prevalence(6(7.5%), 8(10.0%)) respectively. in patient group 10 had the 4G/4G allele, 3 had 5G/5G allele,4 had 4G/5G allele and 23 had wild type allele. The difference between patient group and control group was statistically insignificant ( X2= 0.713 / P=0.870). In conclusion: The non-significant relation indicated that the investigated polymorphism was not main risk factor four DVT in our population. Future work should focus on association of other polymorphisms and genes that contributing to DVT.