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JACI Highlights - June 2009Filaggrin polymorphisms are robust risk factors in allergic diseaseEczema (atopic dermatitis) is a highly pruritic, chronic, and relapsing inflammatory skin disease which affects up to 20% of children and 5% of adults in developed countries, and which is often associated with the development of asthma. Eczema and asthma are strongly genetic and result from the interplay of hereditary and environmental factors. Recent research has revealed a link between eczema and an absence or diminished amounts of filaggrin, a key protein in the skin, caused by mutations of the filaggrin gene (FLG). The significance of these mutations for eczema has been shown across multiple studies. However, there is notable heterogeneity between the studies, and the role of FLG mutations for the predisposition to asthma is hotly debated. In an upcoming issue of The Journal of Allergy and Clinical Immunology, Rodríguez and colleagues present results from a large-scale meta-analysis comprising more than 30 published studies on approximately 9,000 eczema and 4,600 asthma patients. Their analysis shows that common FLG mutations are carried by more than 7% of the general population, and confer a more than threefold increase in eczema risk. In addition, a hereditary deficiency of filaggrin is associated with more severe forms of eczema and eczema with allergic sensitizations. The authors also found that FLG mutations are significantly associated with asthma; however, there appears to be no association with “pure” asthma in the absence of eczema. These findings underline the importance of an inherited disturbance of the epidermal barrier for the development of eczema and suggest that FLG-related eczema may have a distinct phenotype. In addition, they could help to define the profile for the type of asthma that is linked with eczema. “Meta analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic disease” by Rodríguez et al. (JACI June 2009 Volume 123 No. 6) |
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