A scientific review of current data on the effect of the genetic polymorphism of the most studied and proven candidate genome pharmacological targets involved in the lipid-lowering and clinical effect of statins is presented. Such candidate genes as APOE, СЕТР, HMGCR, LDL receptor, LPA, and KIF6 are examined and the results of studies and meta-analyzes confirming their effect on statin efficacy, mainly LDL and HDL levels are shown. Polymorphism of these genes promotes variability of hypolipidemic effect in real clinical practice and has interethnic features. Genotyping by predictive markers of pharmacodynamic effectiveness of statins can represent the basis of personalized medicine.

This article discusses the metabolism of vitamin A, significant genes that play an important role in the metabolism of vitamin A and single-nucleotide substitutions in them, associated with a low concentration of vitamin A in the blood and various diseases. Also reviewed the current recommendations on nutrition and drug treatment of hypovitaminosis.

Recently in vitro fertilization (IVF) as a method of treatment of infertility gets the increasing popularity. However, it is necessary to state its low therapeutic effectiveness – only in 31.5 % of cases cycle IVF result in pregnancy, and in 22.8 % comes to the end with childbirth, and in recent years, these indicators considerably did not change. The major direction in fight against infertility is improvement of the IVF programs by the individualized approach to the choice of the effective protocol of controlled ovarian stimulation for obtaining necessary quantity of oocytes and embryos and reduction of risk of undesirable side reactions. It is supposed that the variability of response to introduction of exogenous gonadotrophins can define polymorphism of the genes coding biotransformation enzymes, in particular isoenzymes of P450 cytochrome, that have a key role in metabolism of estrogen and medicines. In the overview, we considered and systematized modern ideas of the system of P450 cytochrome, a role of its major isoforms in metabolism of steroid hormones, the clinical value of determination of polymorphism of genes of P450 cytochrome for forecasting of reaction of ovaries for stimulation by gonadotrophins in cycles IVF for increase in efficiency of the program discussed.

Objective: The effectiveness and safety of antidepressant therapy is a major problem. Only 25 % of patients with major depressive disorder (MDD) received adequate treatment, whereas only 20–30 % of patients whose symptoms were fully controlled by treatment relapsed. Trazodone is a triazolopyridine derivative can be used as monotherapy and as part of a combination strategy for addressing patients with treatment-resistant depression. Purpose: Systematization of data about the role of pharmacogenomics factors ontrazodone effectiveness and adverse trazodone reactions. Method: A literature search was conducted from Google Scholar, PubMed, Oxford academic, Scopus, PubChem, MedLine, Web of Science, e-LIBRARY and Pharm GKB databases from 1976 to 2018 using the combination of terms Trazodone AND Personalized Medicine OR SNP OR Pharmacogenetics. Results: 8 single-nucleotide polymorphisms (SNPs) cytochrome P450 (CYP2D6, CYP3A4, CYP1A2 and CYP3A5) and P-glycoprotein (ABCB1) genes were analyzed. Conclusions: The most promising markers of safety and efficacy of trazodone are SNP serotonin receptors genes, cytochrome P450 genes (CYP3A4 and CYP1A2) and ABCB1 gene. However, unambiguous results were obtained only for rs1045642 polymorphismsABCB1 gene and CYP3A5*3 СYP3A5 gene. Other genotype dSNPs not having any strong association with the therapeutic response. Future studies, including larger sample sizes, are needed.

Tamoxifen is the selective modulator of estrogen receptors. Nowadays, it is widely used for treatment of premenopausal women with ER(+) breast cancer likewise for postmenopausal women with treatment contraindications to aromatase inhibitors. Tamoxifen is a prodrug which is metabolized by cytochrome P450 (CYP): CYP2D6, CYP3A5, CYP2C9, CYP2C19 to active metabolites. There is high variability in the CYP genes therefore differences in Tamoxifen metabolism. This article presents preliminary results of genetic testing of 120 patients with breast cancer. Patients responded to the survey questionnaire, then samples of buccal epithelium were taken for genetic analysis of CYP2D6*4, CYP3A5*3, CYP2C9*2,3, CYP2C19*2,3, gene mutations by use of real time PCR. In addition, this article presents demographic features in the prevalence of the most significant polymorphisms of the studied genes. We suppose that routine genetic study before tamoxifen administration would help to predict individual intolerance and increase the efficacy of treatment.

To assess the risk of insufficient response or adverse reactions to standard doses of anti-TB drugs, it was proposed to use pharmacogenetic testing of genes of enzymes that metabolize these drugs. Since the frequency of genotypes varies depending on patients’ ethnicity, it is necessary to conduct studies among ethnic groups. The aim of this study was to identify the types of N-acetyltransferase 2 (NAT2) polymorphisms and phenotypes and their prevalence among Yakutian tuberculosis patients, as well as to conduct a comparative analysis with Russian patients. In total 158 patients were examined using real-time PCR: 50 – Yakutians, 41 – Russians (Yakutia), 67 – Russians (Moscow region). Six NAT2 polymorphisms were identified (*5, *6, *7, *11, *12, *13). Significant differences in the distribution of NAT2*5, *11, *12 between Yakutians and Russians were found: these polymorphisms prevail among Russian patients. The frequency of rapid phenotype among Yakutians is higher compared to Russians. The data obtained can contribute to the improvement of the antituberculosis therapy effectiveness in Yakutian patients.