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Frequency of selected single nucleotide polymorphisms influencing the warfarin pharmacogenetics in Slovak population

L'ubica Krajčíová1, Robert Petrovič, L'udmila Déžiová

  • 11st Department of Neurology, University Hospital, Bratislava, Slovakia; Institute of Medical Biology, Genetics and Clinical Genetics, Comenius University Faculty of Medicine and University Hospital, Bratislava, Slovakia.

European Journal of Haematology
|April 23, 2014
PubMed
Abstract

Insights

Genetic variations in CYP2C9 and VKORC1 significantly impact warfarin dosing. This study analyzed these gene polymorphisms in the Slovak population, finding correlations with Caucasian prevalence.

Area of Science:

  • Pharmacogenetics
  • Genetics
  • Clinical Pharmacology

Background:

  • Warfarin, a vitamin K antagonist, is a widely used oral anticoagulant with a narrow therapeutic index.
  • Individual response to warfarin varies significantly due to genetic factors, primarily affecting its efficacy and safety.
  • Polymorphisms in CYP2C9 and VKORC1 genes are known to influence over one-third of the variability in warfarin dosage requirements.

Purpose of the Study:

  • To investigate the frequency of specific single nucleotide polymorphisms (SNPs) in CYP2C9, VKORC1, GGCX, CYP2C19, and CYP4F2 genes.
  • To analyze the pharmacogenetics of warfarin response in the Slovak population.
  • To compare the prevalence of these genetic variants with other global populations.

Main Methods:

  • Genotyping of selected SNPs including CYP2C9*2, CYP2C9*3, VKORC1*2, VKORC1*3, GGCX, CYP2C19*2, and CYP4F2*3.
  • Utilized allele-specific real-time PCR, restriction fragment length polymorphism, and bidirectional PCR allele-specific amplification techniques.
  • Studied a control group of 112 randomly selected individuals from the Slovak population.

Main Results:

  • Determined the allele frequencies of the investigated polymorphisms in the Slovak population.
  • Established that the Slovak population is in Hardy-Weinberg equilibrium for the studied genetic markers.
  • Observed that the incidence of selected polymorphisms in the Slovak population aligns with that of Caucasian populations.

Conclusions:

  • The genetic profile of the Slovak population regarding warfarin-related gene polymorphisms is consistent with other Caucasian groups.
  • These findings contribute to understanding population-specific pharmacogenetics of warfarin.
  • Supports the potential for genotype-guided warfarin dosing in the Slovak population, similar to other Caucasian cohorts.
Keywords:
CYP2C9CYP4F2GGCXSlovak populationVKORC1pharmacogeneticpolymorphismwarfarin

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