title: Prevalence of genetic mutations that predispose to thrombophilia in a Greek Cypriot population.
abstract: Several hereditary disorders, particularly those affecting 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 population: the G1691 factor V Leiden mutation, the G20210A mutation in the prothrombin gene, and the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR). All three variants 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 mutation 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 demonstrate that Greek-Cypriots have an increased frequency of thrombogenic mutations, and suggest that screening for these mutations should be seriously considered, especially when surgery or pregnancy is planned. This is the first study for the frequency of mutations in risk factors that predispose to thrombophilia on the island of Cyprus.
authors.affiliation: Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Nicosia.
authors.forename: K
authors.initials: K
authors.lastname: Angelopoulou
authors.forename: A
authors.initials: A
authors.lastname: Nicolaides
authors.forename: C
authors.initials: C
authors.lastname: Constantinou Deltas
mesh_terms: D003535:Cyprus; D005006:Ethnicity / Q000235:genetics; D005165:Factor V / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006115:Greece / Q000208:ethnology; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D017354:Point Mutation; D011247:Pregnancy; D011516:Prothrombin / Q000235:genetics*; D015183:Restriction Mapping; D019851:Thrombophilia / Q000453:epidemiology* / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)