Allele Frequencies of 163А/С Polymorphism of the CYP1A2 gene in the Selected Ukrainian Population
AbstractBackground: CYP1A2 is a very important gene for a potential genotyping. The objective of this work was to study the population frequencies of the corresponding 163A/C single nucleotide polymorphism of the CYP1A2 gene in the sampling of the Ukrainian population. Methods: Total sampling of genetic material (buccal epithelium) was collected in 102 subjects (48 males, 54 females) not related to each other. Genotype test of the participants of the study for CYP1A2 polymorphism (rs762551) was performed using the polymerase chain reaction. In accordance with the findings of genotyping the allele frequencies (р and q) were calculated. Results: The following distribution of genotypes in a sampling of the Ukrainian population under the 163A/C polymorphism of the CYP1A2 gene: AA - 36%, AC - 49% and CC - 15% in the subjects was revealed. The population allele frequencies of the 163A/C polymorphism of the CYP1A2 gene totaled pА = 0.6 and qС = 0.4. The population structure of the individuals does not deviate from the Hardy-Weinberg equilibrium, as may be seen from the lack of difference between the theoretically expected and the observed frequencies of the three genotypes. Conclusion: The genetic polymorphism found in the Ukrainian population is the basis for the recommendation of the genetic testing of 163A/C polymorphism of the CYP1A2 gene in the prescribing drugs - substrates of this gene.
Ikeya K, Jaiswal AK, Owens RA, Jones JE, Nebert DW, Kimura S. Human CYP1A2: sequence, gene structure, comparison with the mouse and rat orthologous gene, and differences in liver 1A2 mRNA expression. Molecular Endocrinology, 1989; 3:1399-408.
Zhou SF, Yang LP, Zhou ZW, Liu YH, Chan E. Insights into the substrate specificity, inhibitors, regulation, and polymorphisms and the clinical impact of human cytochrome P450 1A2. The AAPS Journal, 2009; 11:481-94.
Soyama A, Saito Y, Hanioka N, Maekawa K, Komamura K, Kamakura S, Kitakaze M, Tomoike H, Ueno K, Goto Y, Kimura H, Katoh M, Sugai K, Saitoh O, Kawai M, Ohnuma T, Ohtsuki T, Suzuki C, Minami N, Kamatani N, Ozawa S, Sawada J. Single nucleotide polymorphisms and haplotypes of CYP1A2 in a Japanese population. Drug Metabolism and Pharmacokinetics, 2005; 20:24-33.
Chida M, Yokoi T, Fukui T, Kinoshita M, Yokota J, Kamataki T. Detection of three genetic polymorphisms in the 5'-flanking region and intron 1 of human CYP1A2 in the Japanese population. Japanese Journal of Cancer Research, 1999; 90:899-902.
Ghotbi R, Christensen M, Roh HK, Ingelman-Sundberg M, Aklillu E, Bertilsson L. Comparisons of CYP1A2 genetic polymorphisms, enzyme activity and the genotype-phenotype relationship in Swedes and Koreans. The European Journal of Clinical Pharmacology, 2007; 63:537-46.
Bock KW, Schrenk D, Forster A, Griese EU, Mörike K, Brockmeier D, Eichelbaum M. The influence of environmental and genetic factors on CYP2D6, CYP1A2 and UDP-glucuronosyltransferases in man using sparteine, caffeine, and paracetamol as probes. Pharmacogenetics, 1994; 4:209-18.
Eshkoor S, Ismail P, Rahman S, Moin S, Adon M. Role of the Gene Polymorphism on Early Ageing from Occupational Exposure. The Balkan Journal of Medical Genetics, 2013; 16:45-52.
Wang H, Zhang Z, Han S, Lu Y, Feng F, Yuan J. CYP1A2 rs762551 polymorphism contributes to cancer susceptibility: a meta-analysis from 19 case-control studies. BMC Cancer, 2012; 12:528.
Vukovic V., Ianuale C., Leoncini E., Pastorino R., Gualano MR, Amore R, Boccia S. Lack of association between polymorphisms in the CYP1A2 gene and risk of cancer: evidence from meta-analyses. BMC Cancer, 2016; 16:83.
Uslu A, Ogus C, Ozdemir T, Bilgen T, Tosun O, Keser I. The effect of CYP1A2 gene polymorphisms on Theophylline metabolism and chronic obstructive pulmonary disease in Turkish patients. BMB Reports, 2010; 43:530-4.
Korytina GF, Akhmadishina LZ, Kochetova OV, Zagidullin ShZ, Viktorova TV. Association of cytochrome P450 genes polymorphisms (CYP1A1 and CYP1A2) with the development of chronic obstructive pulmonary disease in Bashkortostan. Molecular Biology (Mosk). 2008; 42:32-41.
Mynushkyna LO, Horshkova ES, Mankhaeva BB, Savel'eva EH, Kochkyna MS, Brovkyn AN, Nykytyn AH, Zateyshchykova AA, Nosykov VV, Zateyshchykov DA. Henetycheskye aspekty indyvydual'noy chuvstvytel'nosty k betaksololu u bol'nykh hypertonycheskoy bolezn'yu y mertsatel'noy arytmyey. Kremlevskaya medytsyna. Klynycheskyy vestnyk. 2014; 2:20-5 (in Russian).
Bohanec Grabar P, Grabnar I, Rozman B, Logar D, Tomsic M, Suput D, Trdan T, Peterlin Masic L, Mrhar A, Dolzan V. Investigation of the influence of CYP1A2 and CYP2C19 genetic polymorphism on 2-Cyano-3-hydroxy-N-[4-(trifluoromethyl)phenyl]-2-butenamide (A77 1726) pharmacokinetics in leflunomide-treated patients with rheumatoid arthritis. Drug Metabolism and Disposition, 2009; 37:2061-8.
Filiptsova OV, Kobets MN, Kobets YuN. Some aspects of genetics and pharmacogenetics understanding by pharmacy students in Ukraine. The Egyptian Journal of Medical Human Genetics, 2015; 16:61-6.
Filiptsova O, Naboka O, Kobets M, Kobets Yu. Pharmacogenetic Tests in Ukraine: Economic Aspect. Gazi Medical Journal, 2017; 28:79-84.
Atramentova LA, Filiptsova OV. Genetic Demographic Processes in Ukrainian Urban Populations in 1990s: The Marriage Structure of the Kharkov Population. Russian Journal of Genetics, 1998; 34: 941-6.
Atramentova LA, Filiptsova OV. Genetic Demographic Processes in Ukrainian Urban Populations in the 1990s: The Marriage Structure of the Poltava Population. Russian Journal of Genetics, 1999; 35:1464-70.
Atramentova LA, Filiptsova OV, Mukhin VN, Osipenko SYu. Genetic Demography of Ukrainian Urban Populations in the 1990s: Ethnic Geographic Characteristics of Migration in the Donetsk Population. Genetika, 2002; 38:1402-8.
Garibyan L, Avashia N. Research Techniques Made Simple: Polymerase Chain Reaction (PCR). Journal of Investigative Dermatology, 2013; 133:e6.
Walsh PS, Metzger DA, Higuchi R. Chelex 100 as a medium for extraction of DNA for PCR-based typing from forensic material. BioTechniques, 1991; 10:506-13.
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