234: Association of the porothrombin 20210GA variant with myocardial infarction in Tunisian population

Introduction The prothrombin is the precursor of the serine protease thrombin, a key enzyme in hemostasis and thrombosis. Prothrombin 20210GA polymorphism was described as a moderate risk factor for venous thrombosis because this mutation is associated with prothrombin elevated levels which may lead to an imbalance between the procoagulant, anticoagulant and fibrinolytic system. 20210GA curriers have an increased risk of thrombosis. In this study, we propsed to determine the prevalence of 20210GA prothrombin variant among Tunisian population, and to evaluate the potential relevance of this variant with myocardial infarction (MI). Methods This study included 1007 unrelated male Tunisians divided into 399 MI patients and 608 healthy controls. Both groups were aged between 35-70 years. The prothrombin 20210GA polymorphism was carried out by polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP) analysis. Results The distribution of genotypes was in accordance with Hardy-Weinberg equilibrium (P >0.05). A significant difference in genotype distribution and allele frequency was observed between patients and controls. Patients with MI had a frequency of 97% for GG genotype and 3% for GA + AA genotype. The control group had a frequency of 99% for the GG genotype and 1% for the GA + AA genotype (χ2=6.95, p=0.031). The MI patient group showed a significant higher frequency of the 20210A allele compared to the controls 0.02 vs. 0.01 [OR=3.60 (95% CI=1.29-10.53), p =0.005]. Conclusion Our work showed a significant association between the 20210GA polymorphism of the prothrombin gene and MI in the Tunisian population.