title: Microarray-based detection of CYP1A1, CYP2C9, CYP2C19, CYP2D6, GSTT1, GSTM1, MTHFR, MTRR, NQO1, NAT2, HLA-DQA1, and AB0 allele frequencies in native Russians.
abstract: Xenobiotic-metabolizing genes (e.g., Cytochromes P450, GST, NAT2, and NQO1), folate metabolism genes (e.g., MTHFR and MTRR), and major histocompatibility complex genes (e.g., HLA-DQA1) play multiple roles in the organism functioning. In addition, AB0 is the most clinically significant high-polymorphic gene in transfusion and transplantation medicine. Epidemiological data show that allele frequencies of these genes exhibit ethnic and geographic diversity. Besides, little is known about frequency distribution of the major polymorphic variants in native Russians. We developed biological microchips that allow us to analyze a spectrum of allelic variants in 12 different genes: CYP1A1, CYP2D6, CYP2C9, CYP2C19, GSTT1, GSTM1, MTHFR, MTRR, NQO1, NAT2, HLA-DQA1, and AB0. Using this composite methodological platform we have studied 352 DNA samples from healthy native Russian volunteers. The allelic frequencies of gene polymorphisms obtained are close to allelic frequencies observed in some European populations, as published earlier. These data were used in comparative studies to determine predisposition to tuberculosis, lymphoma, and leukemia in adults and to childhood acute leukemia. The HLA-DQA1 and AB0 allele frequencies were used to estimate forensic population parameters for these loci.
authors.affiliation: Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russian Federation. olgagra@gmail.com
authors.forename: Olga
authors.initials: O
authors.lastname: Gra
authors.forename: Olga
authors.initials: O
authors.lastname: Mityaeva
authors.forename: Iryna
authors.initials: I
authors.lastname: Berdichevets
authors.forename: Zhanna
authors.initials: Z
authors.lastname: Kozhekbaeva
authors.forename: Denis
authors.initials: D
authors.lastname: Fesenko
authors.forename: Olga
authors.initials: O
authors.lastname: Kurbatova
authors.forename: Irina
authors.initials: I
authors.lastname: Goldenkova-Pavlova
authors.forename: Tatyana
authors.initials: T
authors.lastname: Nasedkina
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics; D001191:Arylamine N-Acetyltransferase / Q000235:genetics; D019363:Cytochrome P-450 CYP1A1 / Q000235:genetics; D065731:Cytochrome P-450 CYP2C19; D065729:Cytochrome P-450 CYP2C9; D019389:Cytochrome P-450 CYP2D6 / Q000235:genetics; D005260:Female; D005287:Ferredoxin-NADP Reductase / Q000235:genetics; D005787:Gene Frequency; D005828:Genetics, Population; D005982:Glutathione Transferase / Q000235:genetics; D006683:HLA-DQ Antigens / Q000235:genetics*; D059848:HLA-DQ alpha-Chains; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D006899:Mixed Function Oxygenases / Q000235:genetics*; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D010088:Oxidoreductases / Q000235:genetics*; D011110:Polymorphism, Genetic; D012426:Russia / Q000453:epidemiology; D044465:White People / Q000235:genetics*; D015262:Xenobiotics / Q000378:metabolism; D055815:Young Adult
chemical_list: D000017:ABO Blood-Group System; D001189:Aryl Hydrocarbon Hydroxylases; D001191:Arylamine N-Acetyltransferase; D019363:Cytochrome P-450 CYP1A1; D065731:Cytochrome P-450 CYP2C19; D065729:Cytochrome P-450 CYP2C9; D019389:Cytochrome P-450 CYP2D6; D005287:Ferredoxin-NADP Reductase; D005982:Glutathione Transferase; D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D006899:Mixed Function Oxygenases; D016660:NAD(P)H Dehydrogenase (Quinone); D010088:Oxidoreductases; D015262:Xenobiotics; C069050:HLA-DQA1 antigen; C450260:CYP2C9 protein, human; C045793:CYP2C19 protein, human; C111241:methionine synthase reductase; C447479:NQO1 protein, human; C478900:NAT2 protein, human; C413545:glutathione S-transferase T1