INSTITUTE
OF GENETICS & CYTOLOGY

Warfarin is the most common drug that belongs to indirect anticoagulants. In a number of cases, it is prescribed for long-term use. Pharmacogenetic testing for Warfarin allows individualizing the drug’s dose, predicting its effectiveness and safety both before and during its use. To achieve the drug effect and prevent possible risks to the health of patients, it is recommended to conduct the study on the CYP2C9 and VKORC1 genes.

Clopidogrel is an antiplatelet drug, which is widely used to treat and prevent a recurrent myocardial infarction and a stroke, and is also prescribed to patients who have undergone coronary interventions (coronary stent insertion). To achieve the effect of taking the drug and preventing possible health risks to patients, it is recommended to conduct a study on the CYP2C19 and ABC1 genes.

Methotrexate is a drug used to treat the acute forms of psoriasis, a number of autoimmune pathologies and oncological diseases. Methotrexate is a toxic drug that causes serious side-effects. The presence of unfavorable variants of the MTHRF gene leads to an increased risk of toxic reaction development in the course of drug administration. The MTHFR gene polymorphisms are analyzed.

Vasodilators from the group of nitrogen donors. Nitric oxide (NO) is a universal mediator in the regulation of cellular functions and intercellular communication. Drugs of the nitrogen donors’ group regulate the widening of blood vessels. The group includes such drugs as Vasoton, L-arginine. The identification of the eNOS gene variant will allow us to establish the efficacy of the use of pharmacological drugs from the group of nitrogen donors. The eNOS G894T polymorphism is analyzed.

Drugs’ efficacy (CYP2D6 gene analysis): β-adrenergic receptor antagonists, antiarrhythmic agents, analeptics, antidepressants and narcotic analgesics. To date, the International Pharmacogenetics Consortium has established the need for CYP2D6 gene testing for the safe use of at least 48 drugs. Gene mutations affect the metabolism of drugs used in a wide range of medical disciplines, including psychiatry, oncology and cardiology. The CYP2D6 gene is examined.

Neuroleptics and antipsychotics. Established genetic causes of poor tolerability and inefficacy of antipsychotics and antidepressants may be various mutations in the genes of metabolic enzymes and neurotransmitter transporters. To reduce the risk of severe side effects and select effective drugs, it is necessary to conduct a molecular analysis of the most common mutations in the GSTM1 and GSTT1 genes (deletions in the genes of glutathione S-transferases mu-1 and theta-1), MDR1 (locus rs1045642 of the P-glycoprotein gene), as well as the genes of cytochrome P450 isoenzymes ‒ CYP1A2*1F, CYP2D6*4, CYP2C9*2, CYP2C9*3, CYP2C19*2 and CYP2C19*17 loci.

Proton pump inhibitors (PPI) are medications prescribed in gastroenterology for the treatment of gastrointestinal diseases associated with increased gastric juice acidity (gastritis, peptic ulcer, reflux etc.). Omeprazole, lansoprazole, rabeprazole etc are among them. Variability of the CYP2C19 gene encoding the cytochrome P450 enzyme can produce a significant impact on the pharmacokinetics and pharmacodynamics of PPIs. This in turn affects the clinical efficacy of medications. Genotype identification by the CYP2C19 gene helps choose the optimal PPI dosage regimen, especially where initially prescribed therapy is unsuccessful. In the absence of CYP2C19 gene mutations, PPI metabolism proceeds normally. Where CYP2C19 gene mutations are detected, the dosage of medications should be changed depending on the mutations detected.