Allele Frequencies of CYP2D6, CYP3A5 and DPYD Genes Polymorphisms in the Healthy Yakut Population

Background: It is known that the distribution of polymorphism frequencies can vary greatly between different ethnic groups, resulting in variable percentages of poor, intermediate or extensive metabolizers in a given population. Objective: This study was carried out to estimate the genotype frequencies of common variants in the CYP2D6, CYP3A5 and DPYD genes in the Yakut population from North-Eastern Siberia. To compare the allelic distribution found with the frequencies reported for other ethnic groups. Method: Genotyping was carried out by real-time polymerase-chain reaction in a total of 100 healthy unrelated Yakut subjects (CYP2D6 c.100C>T, CYP3A5 g.6986G>A, DPYD c.1905+1G>A, DPYD c.1679T>G, DPYD c.2846T>A). Results: The allele frequencies for CYP3A5*3 and DPYD*13 in Yakuts were 0.08 and 0.01, respectively. No DPYD*2A and DPYD c.2846A alleles were detected. Conclusion: Our data on the distribution of frequencies of genotypes and alleles of polymorphisms of CYP2D6, CYP3A5 and DPYD genes in the Yakut population as a whole are more characteristic of the European populations.