Filaggrin (FLG) mutations increase risk of severe atopic dermatitis and asthma

Filaggrins are filament-associated proteins which bind to keratin fibers in epithelial cells.

The discovery of filaggrin (FLG) null mutations as a major risk factor for eczema represents a milestone toward the understanding of this complex disease.

A meta-analysis of 24 studies on FLG mutations and eczema included 5,791 cases, as well as 17 studies on asthma involving 3,138 cases.

FLG haploinsufficiency strongly increases the eczema risk (odds ratio [OR]) and is associated with more severe and dermatologist-diagnosed disease. FLG mutations are also significantly associated with asthma (OR, 1.48). There appears to be no association with asthma in the absence of eczema.

The authors concluded that there is strong evidence for a high eczema risk conferred by FLG mutations suggesting an association with more severe and secondary care disease. FLG mutations are also a robust risk factor for asthma in patients with eczema.

Early food sensitization and FLG mutation in infants with early eczema increase the risk for later asthma (JACI, 2011).

Filaggrin mutations increase the risk for persistent dry skin and eczema independent of sensitization (JACI, 2012).

References

Meta-analysis of filaggrin polymorphisms in eczema and asthma: Robust risk factors in atopic disease. Elke Rodríguez et al. JACI, Volume 123, Issue 6, Pages 1361-1370.e7 (June 2009).
Early food sensitization and presence of FLG mutation in infants with eczema increase the risk for later asthma. JACI, 2011.
Early food sensitization and FLG mutation in infants with early eczema increase the risk for later asthma (JACI, 2011).
Treatment of Exacerbation of Moderately Severe Atopic Dermatitis
Atopic Dermatitis: A Short Review
Loss-of-function mutations in filaggrin gene are associated with atopic dermatitis, and now with peanut allergy too. JACI, 2011.
Gene defect can triple risk of peanut allergy - filaggrin has already been shown to be a factor in eczema and asthma. BBC, 2011.
Filaggrin gene mutations are associated with atopic asthma http://goo.gl/5mQlj
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