Analysis of associations of IL4 (rs2243250), IL5 (rs2069812) and IL13 (rs1800925) gene polymorphisms with asthma severity in children

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.

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