title: Frequency of selected single nucleotide polymorphisms influencing the warfarin pharmacogenetics in Slovak population.
abstract: OBJECTIVE
  Warfarin represents the most commonly prescribed oral anticoagulants, which functions as an antagonist of vitamin K, an essential factor of blood coagulation cascade. Warfarin has a narrow therapeutic index. An insufficient dose can cause failure of antithrombotic effect, and an overdose increases a risk of bleeding. It is known that variability in two genes (CYP2C9 and VKORC1) has a significant effect on individual response to warfarin dose. These polymorphisms influence more than one-third of known warfarin dose effect. Pharmacogenetics of warfarin is less affected by polymorphisms in the other genes such as CYP4F2, CYP2C19, and GGCX.
  
  
  METHODS
  The frequency of selected single nucleotide polymorphisms including CYP2C9*2 (430C > T), CYP2C9*3 (1075A > C), VKORC1*2 (-1639G > A/1173C > T), VKORC1*3 (3730G > A), GGCX (12970C > G, 8016G > A), CYP2C19*2 (681G > A), and CYP4F2*3 (1297G > A) was tested in a control group consisting of 112 randomly selected individuals by allele-specific real-time PCR, restriction fragment length polymorphism, and bidirectional PCR allele-specific amplification.
  
  
  CONCLUSIONS
  The current results were statistically evaluated and compared with other populations. The presented results in Slovak population which is in Hardy-Weinberg equilibrium were compared with the prevalence in different countries. The incidence of selected polymorphisms in Slovak population correlates with Caucasians.
authors.affiliation: 1st 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.
authors.forename: L'ubica
authors.initials: L
authors.lastname: Krajčíová
authors.forename: Robert
authors.initials: R
authors.lastname: Petrovič
authors.forename: L'udmila
authors.initials: L
authors.lastname: Déžiová
authors.forename: Ján
authors.initials: J
authors.lastname: Chandoga
authors.forename: Peter
authors.initials: P
authors.lastname: Turčáni
mesh_terms: D000328:Adult; D000483:Alleles; D000925:Anticoagulants / Q000494:pharmacology*; D065729:Cytochrome P-450 CYP2C9 / Q000235:genetics; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D008297:Male; D010597:Pharmacogenetics; D020641:Polymorphism, Single Nucleotide; D018154:Slovakia; D064417:Vitamin K Epoxide Reductases / Q000235:genetics; D014859:Warfarin / Q000494:pharmacology*; D044465:White People / Q000235:genetics*
chemical_list: D000925:Anticoagulants; D014859:Warfarin; D003577:Cytochrome P-450 Enzyme System; D065729:Cytochrome P-450 CYP2C9; C578523:VKORC1 protein, human; D064417:Vitamin K Epoxide Reductases
keywords: CYP2C9; CYP4F2; GGCX; Slovak population; VKORC1; pharmacogenetic; polymorphism; warfarin