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Association Between IL-4 (rs2243250) and IL-13 (rs20541) Gene Polymorphisms and Total IgE Levels in Bronchial Asthma:
Amgad A Ezzat1, A Sadek2, Shazly B Ali3
1Department of Medical Microbiology and Immunology, Faculty of Medicine, Al-Azhar University, Assuit, Egypt.
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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