medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2026.06.36-45medgen-3476Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHАнализ ассоциаций полиморфизмов генов IL4 (rs2243250), IL5 (rs2069812) и IL13 (rs1800925) с тяжестью бронхиальной астмы у детейAnalysis of associations of IL4 (rs2243250), IL5 (rs2069812) and IL13 (rs1800925) gene polymorphisms with asthma severity in childrenТерещенкоС. Ю.TereshchenkoS. Yu.

60022, г. Красноярск, ул. Партизана Железняка, д. 3г

3g Partizana Zheleznyaka str., Krasnoyarsk, 660022

МилейкоА. Г.MileykoA. G.

60022, г. Красноярск, ул. Партизана Железняка, д. 3г

3g Partizana Zheleznyaka str., Krasnoyarsk, 660022

ГорбачеваН. Н.GorbachevaN. N.

60022, г. Красноярск, ул. Партизана Железняка, д. 3г

3g Partizana Zheleznyaka str., Krasnoyarsk, 660022

ШубинаМ. В.ShubinaM. V.

60022, г. Красноярск, ул. Партизана Железняка, д. 3г

3g Partizana Zheleznyaka str., Krasnoyarsk, 660022

СмольниковаМ. В.SmolnikovaM. V.

60022, г. Красноярск, ул. Партизана Железняка, д. 3г

3g Partizana Zheleznyaka str., Krasnoyarsk, 660022

smarinv@yandex.ruНаучно-исследовательский институт медицинских проблем Севера – обособленное подразделение ФГБНУ Федеральный исследовательский центр «Красноярский научный центр Сибирского отделения Российской академии наук»РоссияScientific Research Institute of Medical Problems of the North – a separate division of Federal Research Center «Krasnoyarsk Science Center» of the Siberian Branch of the Russian Academy of SciencesRussian Federation2026100720262563645Copyright © Терещенко С.Ю., Милейко А.Г., Горбачева Н.Н., Шубина М.В., Смольникова М.В., 20262026Терещенко С.Ю., Милейко А.Г., Горбачева Н.Н., Шубина М.В., Смольникова М.В.Tereshchenko S.Y., Mileyko A.G., Gorbacheva N.N., Shubina M.V., Smolnikova M.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/3476

Введение. Бронхиальная астма (БА) у детей характеризуется выраженной клинической гетерогенностью, включая различия по степени тяжести. Генетические факторы, связанные с Th2-опосредованным воспалением, могут влиять не только на риск развития заболевания, но и на формирование его тяжёлых форм. Вклад отдельных полиморфных вариантов генов цитокинов в определение степени тяжести БА у детей остаётся недостаточно изученным.Цель: изучить связь полиморфных вариантов генов IL4 (rs2243250), IL5 (rs2069812) и IL13 (rs1800925) со степенью тяжести БА у детей.Методы. Проведено исследование типа «случай–контроль» с участием 384 детей: 160 пациентов с БА различной степени тяжести (GINA 2024) и 224 здоровых ребёнка. Генотипирование осуществляли методом ПЦР в реальном времени. Для анализа ассоциаций применяли порядковую логистическую регрессию с тестированием кодоминантной, доминантной, рецессивной, сверхдоминантной и аддитивной моделей наследования.Результаты. Из трёх исследованных полиморфизмов только rs1800925 (C-1112T) гена IL13 показал статистически значимую ассоциацию с тяжестью БА. Аддитивная модель наследования была наиболее оптимальной согласно информационному критерию Акаике (p = 0,0027), демонстрируя дозозависимый эффект: носители генотипа CC имели среднюю тяжесть БА 0,73 балла, CT – 0,95 балла, TT – 1,29 балла. Полиморфизмы генов IL4 и IL5 не показали значимой связи с тяжестью заболевания.Выводы. Полиморфизм rs1800925 гена IL13 является генетическим маркёром, ассоциированным с тяжестью БА у детей, и может использоваться для раннего прогнозирования течения заболевания.

Background. Asthma in children is characterized by pronounced clinical heterogeneity, including differences in disease severity. Genetic factors associated with Th2-mediated inflammation may influence not only susceptibility to the disease but also the development of severe forms of asthma. However, the contribution of individual cytokine gene polymorphisms to asthma severity in children remains insufficiently studied.Objective. To investigate the association of polymorphic variants of the IL4 (rs2243250), IL5 (rs2069812), and IL13 (rs1800925) genes with asthma severity in children.Methods. A case–control study was conducted including 384 children: 160 patients with asthma of varying severity, classified according to GINA 2024 criteria, and 224 healthy children. Genotyping was performed using real-time polymerase chain reaction. Associations between genotypes and asthma severity were analyzed using ordinal logistic regression with testing of codominant, dominant, recessive, overdominant, and additive inheritance models.Results. Among the three analyzed polymorphisms, only rs1800925 (C-1112T) of the IL13 gene showed a statistically significant association with asthma severity. The additive inheritance model was the most optimal according to the Akaike information criterion (p = 0.0027), demonstrating a dose-dependent effect: carriers of the C/C genotype had a mean asthma severity score of 0.73, C/T – 0.95, and T/T – 1.29. Polymorphisms of the IL4 and IL5 genes were not significantly associated with asthma severity.Conclusions. The rs1800925 polymorphism of the IL13 gene is a genetic marker associated with asthma severity in children and may be used for early prediction of disease course.

астмадетиген IL13полиморфизмгены IL4 и IL5Th2-воспалениетяжесть заболеваниягенетическая ассоциацияasthmachildrenIL13polymorphismIL4 and IL5 genesTh2 inflammationdisease severitygenetic associationРабота выполнена в рамках поискового научного исследования «Разработка технологий оценки факторов риска и маркеров неконтролируемого течения бронхиальной астмы у детей», (№ 1024070500020-3-3.2.3), выполняемой в НИИ медицинских проблем Севера ФИЦ КНЦ СО РАН в 2024-2026 гг.This study was carried out within the framework of the exploratory scientific research ‘Development of technologies for assessing risk factors and markers of uncontrolled course of bronchial asthma in children’ (№ 1024070500020-3-3.2.3), carried out at the Research Institute of Medical Problems of the North FRC KSC SB RAS in 2024-2026.ReferencesPijnenburg M.W., Frey U., De Jongste J.C., Saglani S. Childhood asthma: pathogenesis and phenotypes. 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The authors declare that there are no conflicts of interest present.