title: Genetic polymorphisms of biotransformation enzymes: allele frequencies in the population of the Czech Republic.
abstract: Polymerase chain reaction-restriction fragment length polymorphism based genotyping assays were used to determine the frequency of polymorphisms in CYP1A1 (3'-flanking region), CYP2E1 (5'-flanking region and intron 6), EPHX (exon 3 and exon 4), GSTM1 (deletion), GSTP1 (exon 5) and GSTT1 (deletion) in a group of 416 Czech individuals. A comprehensive overview of the methodology is also presented. We have found the following frequencies of mutated alleles: CYP1A1-m2, 0.097; CYP2E1-C, 0.077; CYP2E1-c2, 0.023; EPHX(exon 3)-His, 0.381; EPHX(exon 4)-Arg, 0.198; GSTM1-null, 0.51; GSTP1-Val, 0.3; GSTT1-null, 0.164. These values are similar to those presented in the majority of studies on European Caucasians, although a few cases of significant differences in the distribution of genotypes were found. These differences were most probably caused by methodological variations or statistical bias in the analyses of low numbers of samples in the control groups of some authors. Based on the results of EPHX genotyping, the activity of its protein product was deduced and the Czech population was divided into three subgroups with low, medium and high EPHX activity. We found that 43% of the Czech population would fall into the low, 44% into the medium and 13% into the high EPHX activity group. The data obtained may prove to be very useful for epidemiological studies on the influence of genetic polymorphisms of biotransformation enzymes on carcinogenesis or other environment-related diseases.
authors.affiliation: Biotransformations Group, Center of Occupational Diseases, National Institute of Public Health, Praha, Czech Republic.
authors.forename: J
authors.initials: J
authors.lastname: Sarmanová
authors.forename: L
authors.initials: L
authors.lastname: Tynková
authors.forename: S
authors.initials: S
authors.lastname: Süsová
authors.forename: I
authors.initials: I
authors.lastname: Gut
authors.forename: P
authors.initials: P
authors.lastname: Soucek
mesh_terms: D000483:Alleles; D001711:Biotransformation / Q000235:genetics; D019363:Cytochrome P-450 CYP1A1 / Q000235:genetics; D019392:Cytochrome P-450 CYP2E1 / Q000235:genetics; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D018153:Czech Republic; D021901:DNA, Intergenic; D004851:Epoxide Hydrolases / Q000235:genetics*; D005006:Ethnicity; D005091:Exons; D005787:Gene Frequency; D005838:Genotype; D005982:Glutathione Transferase / Q000235:genetics*; D007438:Introns; D011110:Polymorphism, Genetic
chemical_list: D021901:DNA, Intergenic; D003577:Cytochrome P-450 Enzyme System; D019392:Cytochrome P-450 CYP2E1; D019363:Cytochrome P-450 CYP1A1; D005982:Glutathione Transferase; D004851:Epoxide Hydrolases