title: The frequency of CYP2C9, VKORC1, and CYP4F2 polymorphisms in Russian patients with high thrombotic risk.
abstract: OBJECTIVE
  VKORC1, CYP2C9, and CYP4F2 are known to be responsible for the metabolism of warfarin. The aim was to explore the frequencies of these genotypes in the Russian population and compare the results with those for other populations.
  
  
  METHODS
  In total, 91 Caucasian subjects with a mean age of 66.17 years (SD, 10.9) were recruited into the study. Of them, 40 patients (48.2%) were men. In order to obtain necessary clinical data, the medical records of the patients were reviewed. Blood (5 mL) was taken from each subject, and DNA was isolated and used for identification of the CYP2C9 allele *1, *2, *3, -1639G/A VKORC1, and CYP4F2 V433M rs2108622 C>T, using the real-time polymerase chain reaction-restriction fragment length polymorphism assay.
  
  
  RESULTS
  The CYP2C9*1/*1 genotype was detected in 67.0%, CYP2C9*1/*2 in 9.9%, CYP2C9*1/*3 in 11.0%, CYP2C9*2/*2 in 2.2%, CYP2C9*2/*3 in 8.8%, and CYP2C9*3/*3 in 1.1% of the patients. The results for VKORC1 were as follows: 49.5% (GG), 28.6% (GA), and 22.0% (AA); meanwhile, those for the genotype CYP4F2 were 57.1% (CC), 34.1% (CT), and 7.7% (TT). No significant deviations from the Hardy-Weinberg equilibrium were observed. The frequency of the polymorphisms in the Russian population was found to differ from Asian and close to Caucasian. There were no significant interethnic variations in the frequency of CYP4F2 among Russian, Asian, and Caucasian populations.
  
  
  CONCLUSIONS
  The frequency of CYP2C9, CYP4F2, and VKORC1 polymorphisms in Russian patients is comparable with other European ethnic groups.
authors.affiliation: Malaya Pirogovskaya 16, 503-3, 119435 Moscow, Russia. dvi1991@yandex.ru.
authors.forename: Dmitriy
authors.initials: D
authors.lastname: Ivashchenko
authors.forename: Ilya
authors.initials: I
authors.lastname: Rusin
authors.forename: Dmitriy
authors.initials: D
authors.lastname: Sychev
authors.forename: Andrey
authors.initials: A
authors.lastname: Grachev
mesh_terms: D000368:Aged; D000483:Alleles; D000925:Anticoagulants / Q000493:pharmacokinetics / Q000627:therapeutic use; D065729:Cytochrome P-450 CYP2C9 / Q000235:genetics*; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D000072470:Cytochrome P450 Family 4; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D060888:Real-Time Polymerase Chain Reaction; D012306:Risk; D012426:Russia / Q000453:epidemiology; D020246:Venous Thrombosis / Q000188:drug therapy / Q000453:epidemiology* / Q000235:genetics*; D064417:Vitamin K Epoxide Reductases / Q000235:genetics*; D014859:Warfarin / Q000493:pharmacokinetics / Q000627:therapeutic use
chemical_list: D000925:Anticoagulants; D014859:Warfarin; D003577:Cytochrome P-450 Enzyme System; C450260:CYP2C9 protein, human; D065729:Cytochrome P-450 CYP2C9; D000072470:Cytochrome P450 Family 4; C117480:CYP4F2 protein, human; C578523:VKORC1 protein, human; D064417:Vitamin K Epoxide Reductases