vavilovВавиловский журнал генетики и селекцииVavilov Journal of Genetics and Breeding2500-3259Institute of Cytology and Genetics of Siberian Branch of the RAS10.18699/vjgb-25-76vavilov-4758Research ArticleПОПУЛЯЦИОННАЯ ГЕНЕТИКА ЧЕЛОВЕКАHUMAN POPULATION GENETICSПопуляционная транскриптомика: новый инструмент исследования генетического разнообразия популяций человека в норме и при патологииPopulation transcriptomics: a novel tool for studying genetic diversity in human populations under normal and pathologicalhttps://orcid.org/0000-0002-1193-5579БабовскаяА. А.BabovskayaA. A.

Томск

Tomsk

anastasia.babovskaya@medgenetics.ruhttps://orcid.org/0000-0003-1311-7403ТрифоноваЕ. А.TrifonovaE. A.

Томск

Tomsk

https://orcid.org/0000-0002-5166-331XСтепановВ. А.StepanovV. A.

Томск

Tomsk

Научно-исследовательский институт медицинской генетики Томского национального исследовательского медицинского центра Российской академии наукРоссияResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of SciencesRussian Federation202504092025295693703Copyright © Бабовская А.А., Трифонова Е.А., Степанов В.А., 20252025Бабовская А.А., Трифонова Е.А., Степанов В.А.Babovskaya A.A., Trifonova E.A., Stepanov V.A.This work is licensed under a Creative Commons Attribution 4.0 License.https://vavilov.elpub.ru/jour/article/view/4758

   Генетические механизмы, регулирующие экспрессию генов, включают в себя сложные процессы: транскрипцию, трансляцию, эпигенетические модификации и взаимодействие регуляторных элементов. Они играют ключевую роль в формировании фенотипического разнообразия человека. Благодаря внедрению высокопроизводительных технологий, таких как экспрессионные микрочипы и массовое параллельное секвенирование (NGS), стало возможным с высокой точностью анализировать транскрипты на уровне тысяч генов по всему геному. Эти методы позволили ученым не только определять уровни экспрессии генов в различных тканях и клетках, но и глубже изучать биологические процессы и феномены, которые ранее оставались недоступными для анализа. Так, многочисленные работы подтвердили, что, несмотря на преобладание индивидуальных различий в уровне экспрессии генов, существуют также значимые вариации между популяциями, принадлежащими к разным континентальным группам, обусловленные генетическими, эпигенетическими и средовыми факторами и действием естественного отбора. Кроме того, важным фактором, влияющим на активность генов, являются заболевания, которые могут существенно изменять транскриптом отдельных клеток. В этом контексте сравнительные популяционно-генетические исследования позволяют раскрыть молекулярные механизмы, лежащие в основе сложных фенотипических признаков, и идентифицировать популяционно-специфические особенности транскриптомных профилей как в норме, так и при патологических состояниях. Несмотря на значительный прогресс в этой области, многие аспекты остаются недостаточно изученными. В частности, распределение вариабельности экспрессии генов между популяциями, степень исследованности отдельных этнических групп, спектр используемого биологического материала, а также вклад популяционной принадлежности в наблюдаемые различия экспрессии генов при патологических состояниях требуют дальнейшего изучения. В настоящей статье представлен обзор современных исследований, посвященных анализу вариабельности экспрессионных профилей в различных популяциях человека. Обобщены результаты отдельных экспериментов, описаны преимущества и ограничения используемых методов, выделены основные направления работ в области популяционной транскриптомики, а также обозначены перспективы практического применения полученных данных.

   Genetic mechanisms regulating gene expression encompass complex processes such as transcription, translation, epigenetic modifications, and interactions of regulatory elements. These mechanisms play a crucial role in shaping phenotypic diversity in humans. High-throughput technologies, such as expression microarrays and next-generation sequencing (NGS), have enabled precise analysis of transcripts for thousands of genes genome-wide. These methods have enabled researchers to measure gene expression levels in various tissues and cells and to gain deeper insights into previously inaccessible biological processes. Numerous studies show that gene expression varies significantly among individuals. However, there are also notable differences between populations from different continental groups, driven by genetic, epigenetic, environmental factors, and natural selection. Furthermore, disease states represent an important factor influencing gene activity, as they can significantly alter the transcriptomic profiles of individual cells. In this context, comparative population genetic studies help uncover the molecular mechanisms underlying complex phenotypic traits and identify population-specific features of transcriptomic profiles in both health and disease. However, despite significant progress in this field, many aspects remain underexplored. Specifically, the distribution of gene expression variability among populations, the degree of research coverage for specific ethnic groups, the spectrum of biological materials used, and the contribution of population affiliation to observed differences in gene expression during pathological conditions require further investigation. This review presents an overview of contemporary research focused on analyzing variability in expression profiles across different human populations. It summarizes findings from individual studies, outlines the advantages and limitations of the methods employed, highlights key research directions in population transcriptomics, and discusses potential practical applications of the data obtained.

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The authors declare that there are no conflicts of interest present.