ArticleIranian journal of pathology2026
Association Between IL-4 (rs2243250) and IL-13 (rs20541) Gene Polymorphisms and Total IgE Levels in Bronchial Asthma: A Study from Aswan Governorate, Egypt.
Article in Iranian journal of pathology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background & Objective: Bronchial asthma is a persistent inflammatory disorder of the respiratory system, characterised by the involvement of numerous immune cells and mediators. Interleukin-4 (IL-4) and interleukin-13 (IL-13) are Th2 cytokines involved in asthma pathophysiology. This study aimed to assess the impact of IL-4 rs2243250 and IL-13 rs20541 genetic variants, in combination with total blood IgE levels, on asthma patients from Aswan governorate, Egypt. Methods: This case-control study included 50 patients with asthma and 30 healthy controls matched for age and environment. Serum levels of IL-4, IL-13, and IgE were quantified using ELISA. IL-4 and IL-13 polymorphisms were identified using PCR-RFLP genotyping. Results: Serum IgE levels showed strong correlations with IL-4 and IL-13 levels (Spearman r = 0.742 and 0.937, respectively; p = 0.001). Genotype distributions of IL-4 rs2243250 and IL-13 rs20541 differed significantly between asthma cases and controls (p < 0.05), with enrichment of the IL-13 rs20541 A allele among cases. IL-13 rs20541 genotype distribution did not differ significantly across asthma severity categories; however, severity-stratified analyses were underpowered. After Benjamini-Hochberg FDR adjustment for the prespecified genetic family (m = 4), IL-4 genotype distribution (p = 0.0027, q = 0.0107) and T-allele enrichment (p = 0.0185, q = 0.037) remained significant. For IL-13 rs20541, genotype distribution (p = 0.009, q = 0.0105) and A-allele enrichment (p = 0.0005, q = 0.0035) were also significant. Conclusion: This study supports Th2-skewed immune activation in bronchial asthma, with higher serum IgE, IL-4, and IL-13 levels in cases. Genetic analyses suggest associations between IL-4 rs2243250 and IL-13 rs20541 polymorphisms and asthma susceptibility. Given the modest control sample and absence of A/A cells among controls, the rs20541 finding should be interpreted as suggestive and hypothesis-generating. Larger, ancestry-matched cohorts with objective phenotyping and standardized treatment sampling are warranted.
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