Abstract
The distribution of allele and genotype frequencies of alcohol biotransformation genes of rs 1229984 ADH1B (G → A polymorphism in exon 3, Arg47His substitution), rs 671 ALDH2 (G → A polymorphism in exon 12, Glu487Lys substitution) and rs 3813867 CYP2E1 (G → C polymorphism in the 5’ region) was studied in the Shors of Tashtagol, Kemerovo region. The study involved two groups of Shors (221 people total): a group of patients suffering from chronic alcoholism genes and a population control group. The article shows that the distribution of allele frequencies of ADH1B, ALDH2 and CYP2E1 in the Shors control group generally corresponds to the distribution of frequencies in the peoples of East Asia. Statistically significant differences in the frequencies of ADH1B and CYP2E1 genes genotypes and alleles between the two groups were found. The ADH1B*АА, CYP2E1*СС and ALDH2*АА homozygous genotypes of of ADH1B, ALDH2 and CYP2E1 alcohol biotransformation genes are more frequently detected in patients with chronic alcoholism than in the control group (OR = 4.81; OR = 2.03 and OR = 4.18, respectively).
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