ecodagЮг России: экология, развитиеSouth of Russia: ecology, development1992-10982413-0958State Institute of Applied Ecology of the Republic of Dagestan10.18470/1992-1098-2024-4-3ecodag-3295Research ArticleВИРУСОЛОГИЯVIROLOGYГенетические мутации, ассоциированные с тяжелым течением респираторных заболеванийGenetic mutations associated with severe respiratory diseaseshttps://orcid.org/0000-0002-1182-8247МошкинА. Д.MoshkinA. D.

Алексей Д. Мошкин, младший научный сотрудник, лаборатория геномики и эволюции Вирусов

630060 Россия, г. Новосибирск, ул. Тимакова 2. Тел. +7 (906) 908 82‐45

Alexey D. Moshkin, Junior Researcher, Laboratory of Virus Genomics and Evolution

2 Timakova St, Novosibirsk, 630060. Tel. +7 (906) 908 82‐45

alex.moshkin727@gmail.comhttps://orcid.org/0000-0003-3376-945XСтолбуноваК. А.StolbunovaK. A.

Кристина А. Столбунова

Новосибирск

Kristina A. Stolbunova

Novosibirsk

https://orcid.org/0000-0002-6301-9169МацвайА. Д.MatsvayA. D.

Алина Д.  Мацвай

Москва

Alina D. Matsvay

Moscow

https://orcid.org/0000-0002-8214-7828ОхлопковаО. В.OhlopkovaO. V.

Олеся В. Охлопкова

Новосибирск

Olesia V. Ohlopkova

Novosibirsk

НИИ вирусологии Федерального исследовательского центра фундаментальной и трансляционной медицины (ФИЦ ФТМ)Research Institute of Virology, Federal Research Centre of Fundamental and Translational MedicineЦентр стратегического планирования и управления медико‐биологическими рисками здоровью Федерального медико‐биологического агентства (ФГБУ «ЦСП» ФМБА России)Centre for Strategic Planning and Management of Biomedical Health Risks» of the Federal Medical and Biological Agency (Centre for Strategic Planning of the Federal Medical and Biological Agency)2024210120251942840Copyright © Мошкин А.Д., Столбунова К.А., Мацвай А.Д., Охлопкова О.В., 20252025Мошкин А.Д., Столбунова К.А., Мацвай А.Д., Охлопкова О.В.Moshkin A.D., Stolbunova K.A., Matsvay A.D., Ohlopkova O.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://ecodag.elpub.ru/ugro/article/view/3295

Цель: выполнить анализ существующих данных о влиянии мутаций в геноме человека на патогенез респираторных вирусных инфекций и обсуждение их значимости для клинической практики. Основные задачи включают описание механизмов генетических мутаций, рассмотрение примеров генов и мутаций, влияющих на восприимчивость и тяжесть заболеваний, а также оценку перспектив генетического тестирования и персонализированной медицины.Исследование генетических факторов, влияющих на вирусные респираторные инфекции, показывает значительное влияние мутаций на течение и исход заболеваний. Например, ген IFITM3, важный для ограничения репликации вируса гриппа, и его полиморфизм rs12252‐C ассоциируются с тяжелыми формами гриппа. Аналогично, мутации в TLR7 связаны с тяжелыми формами COVID‐19, особенно у мужчин.Такие данные подтверждают важность генетического тестирования для выявления лиц с повышенным риском тяжелых инфекций и подчеркивают потенциал персонализированной медицины в улучшении исходов лечения. Важно также учитывать взаимодействие генетических факторов с экологическими и социальными детерминантами здоровья.В обзоре рассмотрены генетические факторы, влияющие на восприимчивость к вирусным респираторным инфекциям и тяжесть течения заболеваний. Показано, что генетические мутации могут существенно влиять на патогенез и течение инфекций. Подчеркнута важность интеграции генетических данных в клиническую практику для повышения эффективности диагностики, прогнозирования и лечения.

Aim. To analyze existing data on the impact of mutations in the human genome on the pathogenesis of respiratory viral infections and to discuss their relevance to clinical practice. The primary objectives include describing the mechanisms of genetic mutations, reviewing examples of genes and mutations that affect susceptibility and disease severity and evaluating the prospects for genetic testing and personalized medicine.Research on genetic factors influencing viral respiratory infections demonstrates the significant impact of mutations on disease progression and outcomes. For instance, the IFITM3 gene, which plays a crucial role in limiting influenza virus replication, along with its rs12252‐C polymorphism, is linked to severe cases of influenza. Similarly, mutations in the TLR7 gene are associated with severe manifestations of COVID‐19, particularly in males. These findings underscore the importance of genetic testing to identify individuals at heightened risk for severe infections and emphasize the potential of personalized medicine to enhance patient outcomes. Additionally, it is essential to consider the interplay between genetic factors and environmental as well as social determinants of health.This review examines the genetic factors that influence susceptibility to viral respiratory infections and the severity of disease progression. It demonstrates that genetic mutations can significantly affect the pathogenesis and course of these infections. The importance of integrating genetic data into clinical practice to enhance the efficiency of diagnosis, prognosis and treatment is emphasized.

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