Distribution of Common Thrombophilia Mutations in Healthy South-East Serbian Population

Introduction Thrombophilia represents an underlying ground for thrombotic conditions that are leading cause of mortality in European populations. Our study objective was to determine the frequency of genotypes and alleles of coagulation factor V G1691A (Leiden), factor II G20210A mutations, and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in general, healthy, population of south-east region of Serbia. Methods The study enrolled 210 healthy Caucasian subjects. The G1691A and G20210A mutations were determined using a multiplexed allele-specific PCR method, while C677T MTHFR was detected separately using allele-specific PCR method. Results We determined 4.10% heterozygous factor V G1691A mutation carriers (A allele frequency 2.05%), G20210A mutation was present in 3.17% also in heterozygous form (A allele frequency 2.11%), while MTHFR 677TT genotype was present in 11.11% of subjects (T allele frequency 34.30%). All tested alterations were in Hardy-Weinberg equilibrium, without distribution difference between genders. Conclusion The determined prevalence of factor V G1691A and prothrombin G20210A mutations are slightly higher than average in Europe, but consistent with the prevalences in the neighbouring countries. The MTHFR C677T genotypes rates are similar to the average rate in Europe and mostly similar to those in the neighbouring countries, but lower than European trend of the higher southern T allele distribution. Our results are applicable in assessing the health risk of the local population, especially if associated with acquired thrombotic risk factors.