Background: Acute lower respiratory infection (ALRI) is the leading cause of child
mortality, especially in the developing world. Polymorphisms in the interleukin 4 (IL-4)
gene have been linked to a variety of human diseases.
Objectives: To investigate whether the IL-4 -590C/T (rs2243250) polymorphism could
be a genetic marker for susceptibility to ALRIs in young Egyptian children.
Methods: This was a multicenter study conducted on 480 children diagnosed with
pneumonia or bronchiolitis, and 480 well-matched healthy control children. Using PCRRFLP analysis, we genotyped a -590C/T (rs2243250) single nucleotide polymorphism of
the IL-4 gene promoter, meanwhile the serum IL-4concentration was measured by ELISA.
Results: The frequency of the IL-4 -590 T/T genotype and T allele were overrepresented
in patients with ALRIs in comparison to the control group (OR = 2.0; [95% confidence
interval [CI]: 1.38-2.96]; for the T/T genotype) and (OR: 1.3; [95%CI: 1.07-1.56]; for the
T allele; P < 0.01). The IL-4 -590 T/T genotype was associated with significantly higher
mean serum IL-4 concentration (58.7 ± 13.4 pg/mL) compared to the C/T genotype
(47.6 ± 11 pg/mL) and the C/C genotype (34.8 ± 9.6 pg/mL); P < 0.01.
Conclusion: The IL-4 −590C/T (rs2243250) polymorphism may contribute to
susceptibility to ALRIs in young Egyptian children.