Sulphation, catalysed by members of the sulphotransferase (SULT) enzyme family, is an important component of the body's chemical defence mechanism, but also acts to bioactivate mutagens such as hydroxylated aryl and heterocyclic amines. A major human sulphotransferase, SULT1A1 (P-PST), metabolizes and/or bioactivates many drugs, iodothyronines and hydroxylated aromatic amines. The enzyme activity varies widely within the population and is under genetic control. We have developed an assay detecting a G-->A transition in SULT1A1 that causes an Arg213-->His substitution associated with low SULT activity and altered enzyme properties, and have used it to assess the SULT1A1 genotype in Caucasian (n=293) and African (Nigerian, n=52) populations. We show that the mutant SULT1A1*2 allele is present at frequencies of 0.321 and 0.269 in the Caucasian and African populations respectively. We also demonstrate a significant age-related difference in SULT1A1 genotype within our Caucasian population, with increasing incidence of SULT1A1*1 homozygosity and decreasing incidence of SULT1A1*2 homozygosity with increasing age, indicating a potential association of SULT1A1*1 allozyme(s) with protection against cell and/or tissue damage during aging.

The aim of the research. To study the possible influence of polymorphism of the genes CYP3A5 (6986A> G), CYP2C9 (430C> T), CYP2C9 (1075A> C), SLCO1B1 (521T> C) and BCRP (ABCG2, 421C> A) on the occurrence of muscle symptoms in the treatment of simvastatin in patients with coronary heart disease, ethnic Uzbeks. Material and methods. In the "case-control" study, 63 patients with chronic coronary heart disease (CHD) were included. The "case" group was consisted of 13 patients who had clinical signs of myopathy, and 4 of them simultaneously showed an increase in the level of transaminases > 3 times. The "control" group included 50 patients with chronic coronary heart disease, without side effects when treated with simvastatin. Genotyping was performed by the PCR-RFLP method. Results. When comparing the prevalence of the most common homozygous genotypes with variant, it turned out that the genotype * 3 / * 3 of the CYP3A5 gene was prevailed in the "case" group (OSh 8.56, 95% DI 2.14-34.1, P = 0.003). When comparing the distribution frequency of alleles the SLCO1B1 gene in the group "case" the carriage of allele C was prevailed (OSh 3.54, 95%, DI 1.35-9.27, χ² = 5.7, P = 0.017). Conclusion. In patients with CHD, ethnic Uzbeks, the carriage of the genotype *3/*3 of the CYP3A5 gene and the C allele of SLCO1B1 gene is associated with muscular symptoms caused by simvastatin.