zurniimtpeМедицина труда и промышленная экологияRussian Journal of Occupational Health and Industrial Ecology1026-94282618-8945FSBSI “Izmerov Research Institute of Occupational Health”10.31089/1026-9428-2025-65-6-393-404ciucvazurniimtpe-3860Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSОднонуклеотидные полиморфизмы, ассоциированные с повышенным риском развития или тяжести течения профессиональных заболеваний под воздействием вредных производственных факторовSingle nucleotide polymorphisms associated with an increased risk of development or severity of occupational diseases under the influence of harmful production factorshttps://orcid.org/0000-0002-7843-3290МаркеловМихаил ЛеонидовичMarkelovMikhail L.

Вед. науч. сотр. лаб. постгеномных технологий ФГБНУ «НИИ МТ», канд. биол. наук

e-mail: mikhailmarkelov@gmail.com

Leading Researcher, Laboratory of Postgenomic Technologies, Izmerov Research Institute of Occupational Health, Cand. of Sci. (Biol.)

e-mail: mikhailmarkelov@gmail.com

mikhailmarkelov@gmail.comhttps://orcid.org/0000-0003-3186-8024КузьминаЛюдмила ПавловнаKuzminaLyudmila P.

Зам. директора по научной работе ФГБНУ «НИИ МТ», заслуженный деятель науки РФ, д-р биол. наук, профессор

e-mail: lpkuzmina@mail.ru

Deputy Director for Research, Honored Scientist of the Russian Federation, Izmerov Research Institute of Occupational Health, Dr. of Sci. (Biol.), Professor

e-mail: lpkuzmina@mail.ru

lpkuzmina@mail.ruМаркеловКирилл МихайловичMarkelovKirill M.

Врач анестезиолог-реаниматолог, ФГБУ «Объединённая больница с поликлиникой» Управления делами Президента Российской Федерации

e-mail: kira-markelov@yandex.ru

Anesthesiologist-Resuscitator, United Hospital with Polyclinic of the Administration of the President of the Russian Federation

e-mail: kira-markelov@yandex.ru

kira-markelov@yandex.ruhttps://orcid.org/0000-0002-9199-6258ЮдинВладимир СергеевичYudinVladimir S.

Директор ФБНУ «ЦСП» ФМБА России, д-р мед. наук, профессор

e-mail: VYudin@cspfmba.ru

Director, Center for Strategic Planning and Management of Medical and Biological Health Risks, Dr. of Sci. (Med.), Professor

e-mail: VYudin@cspfmba.ru

VYudin@cspfmba.ruФГБНУ «Научно-исследовательский институт медицины труда имени академика Н.Ф. Измерова»РоссияIzmerov Research Institute of Occupational HealthRussian FederationФГБУ «Объединённая больница с поликлиникой» Управления делами Президента Российской ФедерацииРоссияUnited Hospital with Polyclinic of the Administration of the President of the Russian FederationRussian FederationФГБУ «Центр стратегического планирования и управления медико-биологическими рисками здоровью» ФМБА РоссииРоссияCenter for Strategic Planning and Management of Medical and Biological Health RisksRussian Federation202505082025656393404Copyright © Маркелов М.Л., Кузьмина Л.П., Маркелов К.М., Юдин В.С., 20252025Маркелов М.Л., Кузьмина Л.П., Маркелов К.М., Юдин В.С.Markelov M.L., Kuzmina L.P., Markelov K.M., Yudin V.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.journal-irioh.ru/jour/article/view/3860

Научное направление, связанное с изучением генетической и эпигенетической предрасположенности к развитию профессиональных заболеваний под воздействием вредных производственных факторов, на современном этапе опирается на использование высокопроизводительных молекулярно-биологические методов анализа геномной ДНК. Особый интерес представляют новые методы определения первичной структуры геномной ДНК с применением технологий массового параллельного секвенирования или секвенирования нового поколения (Next Generation Sequencing, NGS) и гибридизационного анализ ДНК с помощью микрочипов высокой плотности (микроматричный анализ). Указанные выше технологии в совокупности с применением статистических методов обработки метаданных и возможностей искусственного интеллекта открываются новые перспективы в оценке, прогнозировании рисков развития социально-значимых заболеваний. Получаемый массив данных может иметь определяющее значение при решении задач управления профессиональными рисками и профилактики профессиональных заболеваний под воздействием вредных производственных факторов. Целью данного обзора явилось ретроспективное представление работ по поиску функциональных однонуклеотидных полиморфизмов, являющихся маркёрами повышенного риска развития некоторых онкологических заболеваний и развития профессиональных респираторных заболеваний у работников промышленных предприятий под воздействием канцерогенов, ксенобиотиков, тяжёлых металлов, VGDF (vapors, gases, dust and fumes, пары, газы, пыль и дым). Особое внимание в обзоре уделено описанию выявленных генетических маркёров предрасположенности к развитию хронической обструктивной болезни лёгких (ХОБЛ, COPD, chronic obstructive pulmonary disease) – одной из самых распространённых респираторных патологий. В ряде случаев продемонстрировано влияние этнической принадлежности изучаемых групп работников на степень риска развития профессиональных заболеваний при наличии того или иного варианта полиморфизма. Для дальнейших скрининговых исследований целесообразно использовать технологические платформы (диагностические системы) для мультиплексного анализа в пределах не более чем несколько десятков выявленных генетических маркеров, для которых достоверно показана ассоциация с развитием профессиональных заболеваний.

Этика

Этика. Данное исследование не требовало заключения этического комитета.

Участие авторов

Участие авторов:Маркелов М.Л.— дизайн обзора, сбор, анализ и интерпретация данных (литературных источников), написание текста;Кузьмина Л.П. — концепция и дизайн обзора, написание текста, редактирование;|Маркелов К.М. — анализ и интерпретация данных (литературных источников), перевод и валидация представления материалов медицинской направленности, написание текста, редактирование;Юдин В.С. — концепция и дизайн обзора, написание текста, редактирование.

Финансирование

Финансирование. Исследование не имело спонсорской поддержки.

Конфликт интересов

Конфликт интересов. Авторы заявляют об отсутствии конфликта интересов.

Дата поступления

Дата поступления: 05.06.2025 / Дата принятия к печати: 24.06.2025 / Дата публикации: 05.08.2025

The scientific field related to the study of the genetic and epigenetic predisposition to the development of occupational diseases under the influence of harmful industrial factors is currently based on the use of high-performance molecular biological methods of genomic DNA analysis. Of particular interest are new methods for determining the primary structure of genomic DNA using technologies of mass parallel sequencing or Next Generation sequencing (NGS) and hybridization analysis of DNA using high-density microarrays (micromatrix analysis). The above technologies, combined with the use of statistical metadata processing methods and artificial intelligence capabilities, open up new perspectives in assessing and predicting the risks of developing socially significant diseases. The resulting data set can be crucial in solving the tasks of occupational risk management and prevention of occupational diseases under the influence of harmful industrial factors. The study aims to present the works on the search for functional single-nucleotide polymorphisms that are markers of an increased risk of developing certain cancers and occupational respiratory diseases in industrial workers exposed to carcinogens, xenobiotics, heavy metals, VGDF (vapors, gases, dust and fumes, vapors, gases, dust and smoke). The review pays special attention to the description of the identified genetic markers of predisposition to the development of chronic obstructive pulmonary disease (COPD, chronic obstructive pulmonary disease), one of the most common respiratory pathologies. In a number of cases, the influence of the ethnicity of the studied groups of workers on the risk of developing occupational diseases in the presence of one or another variant of polymorphism has been demonstrated. For further screening studies, it is advisable to use technological platforms (diagnostic systems) for multiplex analysis within no more than a few dozen identified genetic markers for which an association with the development of occupational diseases has been reliably shown.

Ethics

Ethics. This study did not require the conclusion of an Ethics Committee.

Contributions

Contributions:Kuzmina L.P. — concept and design of the review, writing, editing;Markelov M.L. — review design, collection, analysis and interpretation of data (literary sources), text writing;Markelov K.M. — analysis and interpretation of data (literary sources), translation and validation of presentation of medical materials, writing, editing;Yudin V.S. — concept and design of the review, writing, editing.

Funding

Funding. The study had no funding.

Conflict of interest

Conflict of interest. The authors declare no conflict of interest.

Received

Received: 05.06.2025 / Accepted: 24.06.2025 / Published: 05.08.2025

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