Analysis of the cytochrome P450 1A1 (CYP1A1) gene polymorphism in the ethnic groups of the republic of Bashkortostan

In three ethnic groups from the Republic of Bashkortostan, Russians ( N = 451), Tatars ( N = 333), and Bashkirs ( N = 171), allele, genotype, and haplotype frequency distribution patterns of the CYP1A1 gene single nucleotide polymorphisms, A2455G and T33801C, were investigated. Substantial interethnic differences in the allele frequency distribution patterns of the CYP1A1 polymorphisms A2455G and T3801C (chi(2) = 15.61, d. f. = 2, P = 0.0001; and chi(2) = 22.10, d. f. = 2, P = 0.0001, respectively) were observed. Pairwise comparison showed that ethnic groups of Tatars and Russians were similar in the A2455G allele frequencies (chi(2) = 1.10, d. f. = 1, P = 0.30). However, in case of the T3801C marker, statistically significant differences were revealed (chi(2) = 4.56, d. f. = 1, P = 0.032). At the same time, Bashkir ethnic group was found to be statistically significantly different from Russians and Tatars in the CYP1A1 polymorphic allele frequency distribution patterns (chi(2) = 15.74, d. f. = 2, P = 0.0001; and chi(2) = 7.47, d. f. = 1, P = 0.024, for A2455G, and chi(2) = 6.46, d. f. = 1, P = 0.011; and chi(2) = 21.36, d. f. = 1, P = 0.0001, for T3801C). Analysis of the CYP1A1 haplotype diversity showed that in terms of the CYP1A1 haplotype frequency distribution patterns, Bashkir ethnic group was statistically significantly different from both Russians (chi(2) = 30.07, d. f. = 3, P = 0.0001) and Tatars (chi(2) = 11.28, d. f. = 3, P = 0.013). The differences observed were caused by the high frequency of haplotype CYP1A1* 2B, which was represented by a combination of rare alleles of the CYP1A1 polymorphisms A2455G and T3801C in Bashkirs ( 5.81%). On the other hand, the ethnic groups of Russians and Tatars residing in the Republic of Bashkortostan were characterized by similar frequencies of the CYP1A1 haplotypes (chi(2) = 6.322, d. f. = 3, P = 0.127). The data obtained could be used in further investigations of the genetic bases of ecology dependant diseases and in the risk groups in the Republic of Bashkortostan.