ABSTRACT

Few genes appear to be as critical for the pathogenesis of allergic inflamma-

tion in humans and animal models as interleukin (IL)-13, and even fewer appear to determine susceptibility to allergy and asthma across human

populations as consistently as IL-13. The reason behind the central role

of this cytokine in disease pathogenesis probably lies in the properties of

IL-13, the frequency with which the human IL-13 locus is targeted by nat-

ural genetic variation, and the functional consequences of this variation.

Here we will discuss the properties of IL-13 relevant to allergic lung inflam-

mation; we will review the results of genetic association studies investigating

the relationship between IL-13 polymorphisms and allergic phenotypes; and we will propose a blueprint for functional studies of genetic variation

based on the experience gained through the analysis of a common IL-13

coding variant.