study of the association of interleukin-13 gene polymorphism R130Q with childhood bronchial asthma

ABSTRACT

Asthma is the most common chronic childhood disease in developed nations and is a complex has high social and economic costs. Asthma and its associated intermediate phenotypes are under a substantial degree of genetic control. Identifying the genes underlying asthma offers a means of better understanding its pathogenesis.IL-13 is a critical mediator of asthma and allergy. Recent attention has focused on the mechanisms that it uses to induce tissue alterations. IL-13 is a potent stimulator of eosinophilic inflammation, airway fibrosis, mucus metaplasia and airway hyperresponsiveness, Common single-nucleotide polymorphisms in IL-13 are associated with allergic phenotypes in several ethnically diverse populations. In particular, IL13+2044G-A is expected to result in the nonconservative replacement of arginine 130 [R130] with glutamine [Q]. IL-13 variant was able to engage T cells, which depends on enhanced IL-13 mediated Th2 differentiation. Data indicate that natural variation in the coding region of IL-13 may be an important genetic determinant of susceptibility to allergy. Increased serum IgE levels have been found in carriers of IL13+2044A in several populations, raising the possibility that expression of IL-13 R130Q and increased IgE class switching might be mechanistically linked]