The primary aim was to determine frequencies of mutations related to risk of venous thrombosis in healthy Caucasians in Central Bohemia. In a cohort of 1527 healthy individuals the frequency of risk alleles for the mutations FV Leiden and FII 20210G>A was 4.5% and 1.3%, respectively. Frequency of 4G PAI-1 allele was 55.5%. Genotype frequencies were: GG 91.03%, GA 8.91%, and AA 0.07% for FV Leiden; GG 97.45%, GA 2.49%, and AA 0.07% for FII 20210G>A; 4G/4G 30.26%, 4G/5G 50.56%, and 5G/5G 19.19% for PAI-1. Frequency of the risk allele A in polymorphism SERPINC1 (IVS +141G >A) was 11.3%, and frequencies of genotypes were as follows: GG 78.36%, GA 20.66%, and AA 0.98%. Frequency of the risk allele T for polymorphism GP6 13254T>C was 87.7%, and frequencies of genotypes were as follows: TT 77.14%, TC 21.15%, and CC 1.70%. Frequency of the risk allele A in polymorphism CYP4V2 (Lys259Gln) was 65.2%, and frequencies of genotypes were: CC 12.25%, CA 45.12 %, and AA 42.63%. All observed genotypes and alleles frequencies were without gender differences. Their occurrences confirm a relatively high prevalence of hereditary thrombophilia predisposition in the Czech Republic.

1st Surgical Department General University Hospital and 1st Faculty of Medicine Charles University Prague Czech Republic

Department of Blood Transfusion General University Hospital and 1st Faculty of Medicine Charles University Prague Czech Republic

Thrombotic Center and Central Hematological Laboratory Institute of Medical Biochemistry and Laboratory Diagnostics Prague Czech Republic

Thrombotic Center Institute of Medical Biochemistry and Laboratory Diagnostics General University Hospital Charles University Prague Czech Republic

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