Prevalence of Genetic Mutations That Predispose to Thrombophilia in a Greek Cypriot Population

Summary: Several hereditary disorders, particularly those af-fecting the physiological anticoagulation systems, have been well established as risk factors for venous thromboembolism. In the present study, we investigated the prevalence of the following thrombogenic mutations in a Greek-Cypriot popula-tion: the G1691 factor V Leiden mutation, the G20210A mu-tation in the prothrombin gene, and the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR). All three vari-ants have been documented to be significant risk factors for various cardiovascular conditions. Ninety unrelated subjects were screened. For the Leiden mutation, 11 subjects (12.2%) were heterozygous and one (1.1%) was homozygous. Seven subjects (7.8%) were heterozygous for the G20210A variant in prothrombin; no homozygotes were identified. The C677T mu-tation in MTHFR was found in 40 individuals in the heterozy