ADME Pharmacogenetics: Future Outlook for Russia

Мирзаев, К. Б.; Fedorinov, Denis S.; Ivashchenko, Dmitriy V.; Сычев, Д. А.

doi:10.2217/pgs-2019-0013

Cited by 12 publications

(5 citation statements)

References 69 publications

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“…Знание геногеографии клинически значимых биомаркеров позволяет выделять популяции, для которых проведение фармакогенетического тестирования (ФГТ) будет приоритетным и обоснованным; такой подход исключит необоснованное назначение ФГТ для всех пациентов. Во многих работах показано, что для народонаселения России характерна значительная этно-региональная изменчивость частот фармакогенетических маркеров [8][9][10][11][12][13][14], что приводит к необходимости адаптации фармакогенетических рекомендаций к конкретным популяциям и народам. Для выявления биомаркеров, требующих наибольшей адаптации ФГТ из-за значительных различий между популяциями, полезно использовать такой инструмент, как выявление эффектов отбора.…”

Section: Introductionunclassified

Genogeographic technologies of a population biobank as a tool for assessing selection effects (using the example of pharmacogenetic biomarkers of cardiovascular diseases)

Balanovskaya,

Gorin,

Ponomarev

et al. 2023

Cardiovasc Ther Prev

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Significant differences between the gene pools of Russian peoples require the development of ethno- regional adapted pharmacogenetic tests and the identification of priority regions for their implementation.Aim. To develop a genogeographic technology to identify selection effects using the example of biomarkers that are significant for pharmacotherapy of patients with cardiovascular diseases (CVD), using a population biobank and the Pharmacogenetics of Populations of Russia and Adjacent Countries database.Material and methods. Deoxyribonucleic acid (DNA) samples from the Biobank of Northern Eurasia from 20 metapopulations of the indigenous population of the European Russia were studied using two following data sets: 24 pharmacogenetic markers of CVDs (3170 samples); 1 276 191 polymorphic DNA markers of the autosomal genome (1293 samples). For each data set, estimates of interpopulation variability in the gene pool are provided — the difference between these estimates characterizes the selection pressure on each of the 24 CVD biomarkers. A genogeographic atlas has been created, the maps of which demonstrate the selection pressure on each biomarker according to the degree of deviation from the selective- neutral variability of the gene pool.Results. Twenty-four CVD biomarkers are divided into three following classes: those close to selective- neutral variability, those subject to stabilizing and differentiating selection. For each of the 24 CVD biomarkers, genogeographic maps were created that reveal selection effects in each of the 20 metapopulations. Most maps have identified populations that are under differential selection pressure and therefore a priority for the implementation of ethno- regionally adapted pharmacogenetic protocols.Conclusion. Pharmacogenetic markers and populations under differential selection require the development of ethno- regionally adapted pharmacogenetic tests. The created cartographic atlas of selection can serve as the basis for pharmacogenetic studies carried out using genogeographic methods.

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Section: Introductionunclassified

Genogeographic technologies of a population biobank as a tool for assessing selection effects (using the example of pharmacogenetic biomarkers of cardiovascular diseases)

Balanovskaya,

Gorin,

Ponomarev

et al. 2023

Cardiovasc Ther Prev

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“…В других работах показано, что анальгетический эффект НПВП может быть связан с уровнем экспрессии ЦОГ-2: продемонстрировано, что у пациентов с аллельными вариантами PTGS-2 отмечалось снижение анальгетического эффекта селективных ингибиторов ЦОГ-2 [23]. Северный Кавказ представляет собой наиболее этнически неоднородный регион России и является прекрасным примером изучения влияния географического фактора на генетическую структуру населения [24,25]. Исследования распространенности основных фармакогенетических маркеров показывают значительную генетическую неоднородность коренных этносов Кавказа между собой и в сравнении с русской этнической группой [24][25][26].…”

Section: Introductionunclassified

“…Северный Кавказ представляет собой наиболее этнически неоднородный регион России и является прекрасным примером изучения влияния географического фактора на генетическую структуру населения [24,25]. Исследования распространенности основных фармакогенетических маркеров показывают значительную генетическую неоднородность коренных этносов Кавказа между собой и в сравнении с русской этнической группой [24][25][26]. Отдельно стоит выделить Дагестан, где проживает 26 из 50 автохтонных кавказских этнических групп.…”

Section: Introductionunclassified

CYP2C8, PTGS-1, 2 gene polymorphisms prevalence associated with sensitivity to non-steroidal anti-inflammatory drugs among North Caucasus ethnic groups

Abdullaev

Denisenko

Мирзаев

et al. 2021

Terapevticheskii arkhiv

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Aim. Find the prevalence of CYP2C8*3 (rs10509681; rs11572080), PTGS-1 (rs10306135; rs12353214) and PTGS-2 (rs20417) alleles and genotypes in four ethnic groups among Laks, Avars, Dargins and Kumyks. Materials and methods. The study involved 400 volunteers from four ethnic groups living in Republic of Dagestan: 100 participants from each group. Carriage of polymorphic markers was determined by reverse transcription polymerase chain reaction. Results. Minor allele frequency of the CYP2C8 (rs10509681) was 5.5% in Avars, 10% in Dargins, Laks and Kumyks 6.5% both; CYP2C8 (rs11572080) was 5.5% in Avars, 9.5% in Dargins, 6.5% in Laks, 8.5% in Kumyks; PTGS-1 (rs10306135) in Avars 10.5%, in Dargins 13.0%, in Laks 9.5% and Kumyks 7.5%; PTGS-1 (rs12353214) in Avars 9.0%, in Dargins 4.5%, in Laks 7.5%, in Kumyks 8.0%; PTGS-2 (rs20417) in Avars 1.0%, in Dargins 2.5%, in Laks 3.5%, in Kumyks 5.0%. There were no significant differences between groups. Conclusion. The study of CYP2C8 and PTGS-1 and 2 gene polymorphisms is promising for predicting the effectiveness and safety of non-steroidal anti-inflammatory drug therapy, due to the high prevalence of these polymorphisms in ethnic groups in the North Caucasus.

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“…Определение частот клинически значимых генетических полиморфизмов у населения является обычной задачей для популяционных биобанков [1]. Данная информация полезна для фармакогенетических работ, поскольку разные этнические группы значительно различаются по частоте ключевых аллелей [2,3]. При большом объеме выборок таких данные важны и для диагностики наследственных болезней, поскольку одним из основных критериев патогенности/непатогенности обнаруженных у пациента мутаций являются данные о частотах этих полиморфизмов в популяции.…”

Section: Introductionunclassified

Population-based biobank for analyzing the frequencies of clinically relevant DNA markers in the Russian population: bioinformatic aspects

Gorin

Петрушенко

Записецкая

et al. 2020

Cardiovasc Ther Prev

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One of the tasks of population-based biobanks is to determine the frequencies of clinically relevant genetic polymorphisms in the population. The population of Russia is very heterogeneous both ethnically and genetically. Therefore, the frequencies of genetic markers are in demand not in one sample, but in a series of samples reflecting the heterogeneity of the gene pool of different peoples and regions.Aim. To divide the population of Russia and neighboring countries into population groups meeting certain conditions, as well as having a representative sample in existing data and biobanks.Material and methods. We developed a method for combining populations into larger groups with maintaining intragroup homogeneity based on the principal components analysis with K-means clustering, followed by refinement of clustering for higher homogeneity and a more equal distribution of group sizes using FST distances. The technology has been adjusted using the example of the Biobank of Northern Eurasia. Therefore, the material was the genome-wide data on 4.5 million genetic markers for 1,883 samples representing 247 populations of Russia and neighboring countries from this biobank. The developed approach, the resulting set of populations and related map can be applied for other collections of biomaterials from Russian populations.Results. Application of this approach made it possible to divide the entire population of Russia and neighboring countries into 29 ethnogeographic groups, characterized by relative genetic homogeneity. This set of populations is recommended as a baseline for population screenings to identify the frequency of any genetic markers among the population of Russia. A map has been constructed showing the division of population into 29 ethnogeographic areas.Conclusion. On the basis of a reliable genome-wide data, the zoning of gene pool of the Russian population was carried out. We identified ethnogeographic groups with intergroup contrasting allele frequencies, but at the same time with relatively homogeneous intragroup parameters. The resulting map and register of groups can be used in population genetic, medical genetic and pharmacogenetic studies.

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ADME Pharmacogenetics: Future Outlook for Russia

Cited by 12 publications

References 69 publications

Genogeographic technologies of a population biobank as a tool for assessing selection effects (using the example of pharmacogenetic biomarkers of cardiovascular diseases)

Genogeographic technologies of a population biobank as a tool for assessing selection effects (using the example of pharmacogenetic biomarkers of cardiovascular diseases)

CYP2C8, PTGS-1, 2 gene polymorphisms prevalence associated with sensitivity to non-steroidal anti-inflammatory drugs among North Caucasus ethnic groups

Population-based biobank for analyzing the frequencies of clinically relevant DNA markers in the Russian population: bioinformatic aspects

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