АА

А. А. Качанова

Russian Medical Academy of Continuous Professional Education

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ДА

Д. А. Сычев

Russian Medical Academy of Continuous Professional Education

ЕА

Е. А. Гришина

Russian Medical Academy of Continuous Professional Education

КА

К. А. Акмалова

Russian Medical Academy of Continuous Professional Education

НП

Н. П. Денисенко

Ministry of Health

КБ

К. Б. Мирзаев

Russian Medical Academy of Continuous Professional Education

Zhannet A. Sozaeva

Russian Medical Academy of Continuous Professional Education

Sh. P. Abdullaev

Russian Medical Academy of Continuous Professional Education

Dmitriy V. Ivashchenko

Russian Medical Academy of Continuous Professional Education

P.V. Shimanov Shimanov

Scientific Center of Children's Health

N. I. Buromskaya

Scientific Center of Children's Health

Cooperative Institutions

Russian Medical Academy of Continuous Professional Education

Ministry of Health of the Russian Federation

Sechenov University

Ministry of Health

City Clinical Hospital

Russian Academy of Sciences

Lomonosov Moscow State University

Peoples' Friendship University of Russia

Botkin Hospital

Scientific Center of Children's Health

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Clinically relevant pharmacogenetic markers in Tatars and Balkars

Molecular Biology Reports (2020)

Sh. P. Abdullaev К. Б. Мирзаев Irina Sergeevna Burashnikova А. А. Shikaleva А. А. Качанова

10.1007/s11033-020-05416-4

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CYP2D6 phenotype and ABCB1 haplotypes are associated with antipsychotic safety in adolescents experiencing acute psychotic episodes

Drug Metabolism and Personalized Therapy (2021)

Dmitriy V. Ivashchenko Daria A. Yudelevich N. I. Buromskaya P.V. Shimanov Shimanov Roman V. Deitch

Abstract Objectives To identify possible associations of CYP2D6, CYP3A4/5 , and ABCB1 gene polymorphisms with the efficacy and safety of antipsychotics in adolescents with acute psychotic episodes. Methods We examined the associations of pharmacogenetic factors with the efficacy and safety of antipsychotics in 101 adolescents with acute psychotic episodes. The diagnosis on admission was “Brief psychotic disorder” (F23.0–23.9 by ICD-10). All patients were administered antipsychotics for 14 days. Treatment efficacy and safety were assessed using the PANSS, CGAS, CGI-S(I), UKU SERS, BARS, and SAS scales. Pharmacokinetic genotyping was performed for the CYP2D6 * 4, * 10 , ABCB1 1236C>T, 2677G>T, and 3435C>T genes. Results CYP2D6 intermediate metabolisers had “Micturition disturbances” more often than extensive metabolisers (24.2 vs. 7.4%; p=0.026). “Wild” homozygote ABCB1 3435C>T CC was associated with more prominent akathisia. Haplotype analysis of three ABCB1 polymorphisms revealed that the “wild” alleles “C-G-C” (ABCB1 1236-2677-3435) were associated with higher risk of “Reduced salivation” (OR=2.95; 95% CI=1.35–6.45; p=0.0078). Conclusions CYP2D6 intermediate metabolism was associated with the risk of urinary difficulties under treatment with antipsychotics. We found that “wild” homozygotes ABCB1 1236C>T, 2677G>T, and 3435C>T were predictors of adverse drug effects caused by treatment with antipsychotics.

Akathisia

10.1515/dmpt-2021-0124

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ЭФФЕКТИВНОСТЬ И БЕЗОПАСНОСТЬ АНТИПСИХОТИКОВ У ПОДРОСТКОВ С ОСТРЫМ ПСИХОТИЧЕСКИМ ЭПИЗОДОМ В ЗАВИСИМОСТИ ОТ АКТИВНОСТИ ИЗОФЕРМЕНТОВ CYP3A И CYP2D6

Неврология, нейропсихиатрия, психосоматика (2020)

Иващенко Дмитрий Владимирович А. С. Осипов Е В Назарова M. A. Ovchinnikova Н И Буромская

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The rs11385942 and rs657152 variants are not associated with COVID-19 severity and outcomes in patients treated with favipiravir and remdesivir

Acta Biomedica Scientifica (East Siberian Biomedical Journal) (2024)

Sh. P. Abdullaev Н. П. Денисенко И. И. Темирбулатов А. А. Качанова С. Н. Тучкова

Background . There is a mounting evidence in the scientific literature that susceptibility to SARS-CoV-2 infection could vary. The severity of COVID-19 symptoms can range from asymptomatic to severe respiratory failure, requiring prolonged artificial ventilation. The underlying causes of this range of clinical manifestations remain unclear. Identification of the risk factors that may cause this variation in clinical symptoms is important for identifying the most susceptible populations at highest risk. This should help improve prevention measures, reduce hospitalizations, and decrease the mortality rate of the disease. Previously, an association has been found between the severity of COVID-19 and the genetic markers rs11385942 G>GA and rs657152 A>C. The aim . To assess the impact of carrying polymorphic markers rs11385942 G>GA and rs657152 A>C on the severity of COVID-19 in patients undergoing specific therapy. Materials and methods. A total of 240 patients hospitalized with a coronavirus infection were included in the study. All patients received therapy with favipiravir or remdesivir. The presence of the rs11385942 G>GA and rs657152 A>C variants was determined in all patients. The study compared the length of hospital stays, frequency of patient transfers to the intensive care unit (ICU), and frequency of clinical outcomes (recovery or death) among carriers of allelic variants of the markers under investigation. Results . There were no significant associations between the carriage of variants rs11385942 G>GA and rs657152 A>C and the duration of patients’ hospitalization, frequency of patient transfers to the ICU, and patient outcomes. Conclusion . The carriage of rs11385942 G>GA and rs657152 A>C variants did not affect the severity or type of clinical outcomes in patients with COVID-19.

Favipiravir

10.29413/abs.2023-8.6.3

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Effect of CYP2D6*4, CYP2D6*10 polymorphisms on the safety of treatment with timolol maleate in patients with glaucoma

Drug Metabolism and Personalized Therapy (2022)

Л К Мошетова M.M. Soshina К.I. Turkina Е. А. Гришина Zhannet A. Sozaeva

Abstract Objectives Timolol maleate is used for the treatment of glaucoma and metabolized by cytochrome CYP2D6 in the liver. The aim of this study was the evaluation of the influence of CYP2D6*4 and CYP2D6*10 gene polymorphisms on the safety of medications containing 0.5% of timolol maleate as glaucoma treatment in patients with primary open-angle glaucoma (POAG). Methods 105 patients with POAG were prescribed glaucoma medications, containing 0.5% timolol maleate. The safety of glaucoma treatment was determined by electrocardiography (ECG) (to assess heart rate (HR) and PQ interval) and blood pressure (BP) measurements. The real-time polymerase chain reaction method was used for the detection of single nucleotide polymorphisms (SNP). Results The risk of adverse drug reactions was higher in patients with the CYP2D6*4 GA genotype compared with GG: mean HR change at 1 month (2.88 ± 4.68 and 6.44 ± 5.57, p<0.001) and 6 months (5.14 ± 8.93 and 7.88 ± 5.65, p<0.001), mean PQ interval change at 1 (0.01 ± 0.031 and 0.02 ± 0.022, p=0.003) and 6 months (0.01 ± 0.032 and 0.02 ± 0.024, p=0.003). The risk of adverse drug reactions was higher in patients with the CYP2D6*10 CT genotype compared with CC: mean HR change at 1 month (2.94 ± 4.65 and 6.34 ± 5.66, p<0.001) and 6 months (5.20 ± 8.90 and 7.78 ± 5.75, p<0.001), mean PQ interval change at 1 (0.01 ± 0.032 and 0.02 ± 0.021, p=0.014) and 6 months (0.01 ± 0.033 and 0.02 ± 0.022, p=0.014). Conclusions CYP2D6*4 and CYP2D6*10 gene polymorphisms may affect a higher risk of timolol-induced bradycardia and increased PQ interval of treatment medications containing 0.5% of timolol maleate in patients with POAG.

10.1515/dmpt-2022-0117

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Evaluation of the association of CES1 (rs2244613) polymorphisms with the safety of remdesivir in hospitalized patients with COVID-19

Meditsinskiy sovet = Medical Council (2023)

И. И. Темирбулатов А. V. Kryukov К. Б. Мирзаев Н. П. Денисенко Sh. P. Abdullaev

Introduction . An outbreak of novel COVID-19 infection has become a real challenge for the entire human society, and first of all for the healthcare services. The development of new drugs is a complex and lengthy process. At the beginning of the pandemic, it forced an intensive study of well-known drugs for the therapy. Remdesivir was first investigated as a potential treatment for Ebola virus. After beginning of the COVID-19 pandemic, in vitro evaluations demonstrated its activity against SARS-CoV-2. Subsequent clinical studies showed the efficacy of remdesivir in shortening the time to recovery. Aim . To evaluate the effect of the carriage of polymorphic alleles of the CES1 gene (A > C, rs2244613) on the safety profile of remdesivir therapy. Materials and methods . A total of 154 patients hospitalized with coronavirus infection were included in the study. All patients received remdesivir as etiotropic therapy in the standard regimen: 200 mg on the first day followed by 100 mg daily for 5-10 days. In the course of observations, clinical and laboratory signs of adverse events were reported. Venous blood samples were collected from each patient for pharmacogenetic studies. Genotyping was performed using the real-time polymerase chain reaction technique. Statistical analysis: вata were analysed by using IBM SPSS Statistics, Version 23.0. Results . There were no significant associations of carriage of various CES1 variants with the frequency of adverse reactions (bradycardia, nausea, vomiting) and laboratory markers of adverse events (ALT, AST, creatinine levels). Conclusion . In our study, no association was found between the carriage of CES1 gene polymorphisms and the safety parameters of remdesivir in hospitalized patients with COVID-19. Further research into the possibilities of personalizing COVID-19 therapy through pharmacogenetic testing is needed.

Pandemic

10.21518/2079-701x-2022-16-23-304-309

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Carriage of the COMT rs4680 polymorphic variant is associated with better tolerance to antipsychotics in adolescents with an acute psychotic episode: a prospective observational clinical study

Фарматека (2021)

Dmitriy V. Ivashchenko M.V. Ivanyuta Ivanyuta N. I. Buromskaya P.V. Shimanov Shimanov Roman V. Deitch

rs4680

10.18565/pharmateca.2021.3.62-67

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CRT-100.25 MicroRNAs as Novel Biomarkers to Guide DAPT After PCI – Preliminary Assessment

КАРДИОЛОГИЯ УЗБЕКИСТАНА (2023)

Eric Rytkin К. Б. Мирзаев Irina V. Bure К. А. Акмалова Sherzod Abdullaev

Irreversible Electroporation

10.1016/j.jcin.2023.01.062

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The polymorphic variants DRD2, DRD3, and DRD4 are associated with early efficacy and safety of antipsychotics in adolescents with an acute psychotic episode

Clinical pharmacology and therapy (2021)

D. V. Ivaschenko Lisa Fedina D.A. Yudelievich N. I. Buromskaya P.V. Shimanov Shimanov

The prospective observational study included 101 adolescents diagnosed with acute polymorphic psychotic disorder at the time of admission. Patients were followed up for 14 days. All patients received an antipsychotic as their main therapy. The following scales were used to assess the efficacy and safety of therapy on day 14: CGAS, PANSS, CGI-S, CGI-I, UKU SERS, SAS, BARS. The determination of polymorphic variants of DRD2 (rs1800497, C>T), DRD3 (rs6280, C>T), DRD3 (rs324026, C>T), and DRD4 (rs1800955, C>T) genes was performed by real-time polymerase chain reaction (PCR).

10.32756/0869-5490-2021-2-75-80

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New Pharmacogenetic Markers to Predict the Risk of Bleeding During Taking of Direct Oral Anticoagulants

Rational Pharmacotherapy in Cardiology (2020)

К. Б. Мирзаев Dmitriy V. Ivashchenko Ilya V. Volodin Е. А. Гришина К. А. Акмалова

Aim . To search for new pharmacogenetic biomarkers of bleeding risk in patients taking rivaroxaban and dabigatran for different indications: atrial fibrillation, endoprosthesis of large joints of lower limbs. Material and methods . The study enrolled 29 patients (17 patients received dabigatran and 12 –rivaroxaban), who had hemorrhagic complications during taking direct oral anticoagulants. To find new pharmacogenetic biomarkers of bleeding risk, a next generation sequencing (NGS) was performed for selected candidate genes. Results . Among the patients with bleeding who received dabigatran, 13 variants of the nucleotide sequence showed statistically significant deviation from the population values: 11 in the CES1 gene and 2 in the ABCB1 gene. Among the patients with bleeding who received rivaroxaban, 7 variants of nucleotide sequence showed significant deviation: 4 in the ABCG2 gene, 2 in the CYP3A4 gene, and 1 in the ABCB1 gene. Conclusion . The identified in this study polymorphisms of candidate genes ABCB1, ABCG2, CES1, CYP3A4 were associated with the risk of bleeding in patients taking rivaroxaban and dabigatran. It makes an important contribution to the pharmacogenetics of direct oral anticoagulants and require additional assessment of clinical significance in further studies.

10.20996/1819-6446-2020-10-05

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