Prevalence of genetic mutations that predispose to thrombophilia in a Greek Cypriot population

Several hereditary disorders, particularly those affecting the physiologica l anticoagulation systems, have been well established as risk factors for v enous thromboembolism. In the present study, we investigated the prevalence of the following thrombogenic mutations in a Greek-Cypriot population: the G1691 factor V Leiden mutation, the G20210A mutation in the prothrombin ge ne, and the C677T mutation in the methylenetetrahydrofolate reductase (MTHF R). All three variants have been documented to be significant risk factors for various cardiovascular conditions. Ninety unrelated subjects were scree ned. For the Leiden mutation, 11 subjects (12.2%) were heterozygous and one (1.1%) was homozygous. Seven subjects (7.8%) were heterozygous for the G20 210A variant in prothrombin; no homozygotes were identified. The C677T muta tion in MTHFR was found in 40 individuals in the heterozygous state (44.4%) , and in 16 individuals in the homozygous state (17.8%). These data demonst rate that Greek-Cypriots have an increased Frequency of thrombogenic mutati ons, and suggest that screening for these mutations should be seriously con sidered, especially when surgery or pregnancy is planned. This is the first study for the frequency of mutations in risk factors that predispose to th rombophilia on the island of Cyprus.