Применение фармакогенетического тестирования на статины в Республиканском медико-генетическом центре Республики Башкортостан

Abstract

Statins are a group of hypolipidemic drugs used to treat hypercholesterolemia. However undesirable drug reactions, such as an asymptomatic increase in transaminase activity; stomach ache; myalgia and myopathy, rhabdomyolysis is possible because of statins. The incidence of the development of myalgias and myopathies ranges from 2-3% to 10-25%. The variability of the pharmacological response depends on the polymorphic gene variants, the products of which are responsible for pharmacokinetic and pharmacodynamic processes. DNA testing of patients using statins was carried out at the Republican Medical Genetic Center. It was determined the polymorphic variant SLCO1B1 * 5 (rs4149056). DNA samples were examined from 42 patients, aged 6-73 years. As a result of DNA testing, a homozygous variant of the SLCO1B1 gene, the “wild” TT genotype, was detected in 28 (66.66%) patients. These patients have a low risk of liver and striated muscles damages. The maximum permissible dosage of drugs should not be exceeded. The heterozygous TC genotype of the SLCO1B1 gene, which promotes the production of a protein with reduced activity was found in 9 (21.43%) patients. It can be concluded that standard dosage of statins cause developing liver and striated muscle damage. The maximum permissible dose of drugs is reduced. A homozygous variant of the SLCO1B1 gene (genotype CC), was observed in 4 (9.52%) people. In this case the risk of developing myopathies reaches 60%, therefore, the dose of statins should be minimal. The results of the study indicate the need to use pharmacological DNA testing in clinical practice.