engleski

Polymorphisms of some coagulation factor genes in healthy Croatian subjects

Complex diseases are influenced by variation at multiple genetic loci and environmental factors. Different risks for such diseases can be seen in different ethnic and racial groups. Gene polymorphisms of factors involved in coagulation and fibrinolysis are potentially important in development of arterial and venous thrombosis. In our study we investigated the incidence of mutated alleles for Factor V Leiden, Prothrombin G20210A, Fibrinogen -455 G/A, -148 C/T and PAI-1 4G/5G in healthy population. Sequence variation in Factor V causes the resistance to activated protein C and variations in Prothrombin, Fibrinogen and PAI-1 are associated with increased gene transcription and may lead to their increased plasma levels and hypercoagulability. A 120 subjects were studied (aged between 20-75 years). Genotypes were determined by PCR-RFLP (Prothrombin G20210A and Fibrinogen 455 G/A, -148 C/T) and PCR-SSCP (Factor V Leiden and PAI-1 4G/5G) analysis. The observed genotype frequencies were: Factor V 92.7% wild type, 7.3% heterozygotes ; Prothrombin 98% wild type, 2% heterozygous ; Fibrinogen 46.7% wild type, 38.5% heterozygotes and 4.4% homozygotes for mutated allele ; the same distribution was observed for the Fibrinogen -148 C/T polymorphism ; PAI-1 29.2% 5G homozygotes, 45.2% 4G/5G heterozygotes and 25.6% 4G homozygotes. Two polymorphisms of fibrinogen gene showed to be in complete linkage disequilibrium. The observed distribution of genotypes was consistent with that predicted by the Hardy-Weinberg equilibrium. The results were consistent with reported genotype and allele frequencies for other white populations.

coagulation and fibrinolysis; arterial and venous thrombosis; Factor V Leiden; Prothrombin; Fibrinogen; PAI-1

nije evidentirano