Inherited thrombophilia polymorphisms in first degree relatives of patients with venous thromboembolism

Introduction: Inherited thrombophilic gene polymorphisms have been linked to thepathogenesis of venous thromboembolism (VTE). First degree relatives of patients with VTEseems to be at a higher risk of thrombosis than others. As they are very limited data of thesepolymorphisms in Iranian population we aimed to investigate these polymorphisms in suchindividual.Methods: Ninety individuals from first degree relatives of patients with VTE and 306 healthycontrol subjects were recruited to the study. Genotyping for the factor V Leiden (FVL),prothrombin (FII) G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T andPLA2 polymorphism of platelet glycoprotein IIb/IIIa was under taken by PCR–RFLP.Results: A total number of 67 and 151 investigated polymorphisms were found in cases andcontrols respectively (p<0.01). FVL and FII G20210A were found in 3% and 1% of the casescompared with 2.3% and 1% of the controls respectively (p=NS). 38% 0f subjects werecarrier of MTHFR C677T polymorphism compared to 35.9% in control with no significantdifference. PLA2 polymorphism of GPIIb/IIIa was seen in 25% and 10.1% in patients andcontrols respectively (p<0.01).Discussion: The prevalence of these polymorphisms is different than some of the previouslypublished data in other populations. Higher prevalence of PLA2 polymorphism of GPIIa/IIIbin first degree relatives of VTE patients demonstrates the importance of this polymorphism inthis individuals. Because of the impact of this polymorphism on platelet aggregation theseindividuals may need to be monitored for the other risk factors.

Inherited thrombophilia polymorphisms in first degree relatives of patients with venous thromboembolism Keywords:

Inherited thrombophilia , PLA2 polymorphism , First degree relatives , venousthromboembolism