Correlation of factor V G20210A (Leiden), prothrombin G20210A, and MTHFR C677T with thromboembolic events in the Lebanese population

Thrombophilia is a multifactorial disease state associated with both genetic and non-genetic risk factors. Our objective was to assess the prevalence of the factor V G1691A (Leiden), Prothrombin G20210A, and Methylenctetrahydrofolate Reductase C677T mutations and their contribution to the risk of disease causality in the Lebanese population. Assessment of this risk reflects upon the value of assaying for these genetic aberrations in thrombophilic patients and, hence, determination of the course of treatment required. We investigated the prevalence of the above-mentioned three mutations in two different groups. The first group consisted of 115 healthy Lebanese blood donors of balanced age, gender, religion and geographic distributions. The second group consisted of 106 Lebanese thrombosis patients whose demographic distributions matched those of the first group. The Factor V G1691A (Leiden), factor II G20210A and MTHFR C677T alleles were detected by PCR and digestion with Mn1 I, Hind III, and Hinf I respectively. The factor V Leiden mutation was detected in 14 healthy subjects compared to 37 thrombophilic ones (p < 0.001). The prothrombin G20210A mutation was detected in 6 healthy subjects as compared to 15 thrombophilic ones (p=0.02). The MTHFR C677T mutation was detected in 55 healthy subjects as compared to 49 thrombophilic ones (p=0.459). The Factor V G20210A (Leiden) and Prothrombin G20210A genetic aberrations displayed a significant association with thromboembolic disease occurrence in the Lebanese population; the MTHFR C677T mutation seemed to have no pertinence to the evolvement of thrombophilia.