Determination of the frequency of ABCB1 gene polymorphisms (C1236T, C3435T) in the population of the Tashkent region of Uzbekistan

Abstract

This work aimed to determine the frequency of 2 polymorphisms in the ABCB1 gene (С1236T, С3435T) in healthy volunteers from the population of Tashkent region of Uzbekistan to assess their prevalence and improve the quality of personalized therapy and treatment efficacy. The study included 121 conditionally healthy volunteers from the Tashkent region of Uzbekistan aged 18 to 54 years. Genotyping was performed by polymerase chain reaction (PCR) and restriction fragment length polymorphism. It was found that for C1236T, the T allele had a higher frequency (0.63) than the C allele (0.37). Regarding genotypes, CT and TT were found significantly more often than CC. The frequency of the С3435Т C allele was 41%, and that of the T allele was 59%; the CT and TT genotypes were detected equally and had a frequency higher than that of CC. In conclusion, we observed a high frequency of altered alleles of C1236T and C3435T polymorphisms of the ABCB1 gene among healthy volunteers of the Uzbek population. Thus, such research needs to be scaled up to select the optimal individual therapy for many diseases. Keywords: P-glycoprotein, SNP, genotype.