Prothrombotic heritable risk factors for cerebral ischemic infarction, acute myocardial infarction and venous thrombosis in young adult Turkish patients

Purpose: Recently there are numerous reports demonstrating environmental and genetic factors in the pathogenesis of thrombotic events. In this case-control study we investigated the relation between genetic and other risk factors and thrombotic events in patients with venous thromboembolism (VTE), cerebral ischemic infarction (CI) and acute myocardial infarction (AMI). Methods: We have investigated the prevalence of the factor V G1691A (FV Leiden) mutation, prothrombin (PT) G20210A, C677T methylene tetrahydrofolate reductase (MTHFR) gene single nucleotide polymorphism in 35 patients with VTE, 21 cases with CI and 63 patients with AMI. Results: FVL carrier rate was found as 37.1% in VTE, 12.7% in AMI and, 14.3% in CI patients. The frequency of PT G20210A mutation was 8.6% in VTE, 6.3% in AMI and 4.8% in CI patients. FVG1691A and PT G20210A mutations were found as significant risk factors for VTE patients compared to controls (P < 0.001). In the control group consisting 81 healthy subjects, protein C deficiency was demonstrated in 1.2% of the subjects. None of the controls had antithrombin or protein S deficiency whereas carrier rate for FVL was 4.9% with an allele frequency of 3.1%. MTHFR C677T mutation was detected in 43 of the healthy controls and one individual was heterozygous for prothrombin gene mutation. Risk assessment of prothrombotic factors revealed only hyperhomocysteinemia as a risk factor for AMI (P