Major and Potential Prothrombotic Genotypes in Patients with Venous Thrombosis and in Healthy Subjects from Slovenia

The objective of our study was to investigate the prevalence of the polymorphisms factor V Leiden (FVL), prothrombin G20210A (PT G20210A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), plasminogen activator inhibitor type 1 –675 4G/5G (PAI-1 4G/5G) and factor XII –4 C/T (FXII –4 C/T) in 295 Slovenian patients with venous thrombosis (VT) and 223 healthy controls in order to establish their contribution to the risk for VT. The major genetic risk factor was FVL, while PT G20210A, MTHFR 677 C/T, PAI-1 4G/5G and FXII –4 C/T polymorphisms were not. However, PT G20210A increased the risk of recurrent VT, MTHFR C677T increased the risk in older patients, while the FXII –4 T allele suggested a possible protective effect in younger patients. The risk of VT increased with increasing number of genetic defects.