Filaggrin mutations, atopic eczema, hay fever, and asthma in children

Our results suggest that filaggrin gene mutations are key organ specific factors predominantly affecting the development of eczema and confer significant risks of allergic sensitization and allergic rhinitis as well as asthma in the context of eczema

Stephan Weidinger

2008

Scholarcy highlights

  • Mutations in the filaggrin gene have been shown to play a significant role in ichthyosis vulgaris and eczema, 2 common chronic skin diseases
  • Our results suggest that FLG mutations are key organ specific factors predominantly affecting the development of eczema and confer significant risks of allergic sensitization and allergic rhinitis as well as asthma in the context of eczema
  • Further rare FLG mutations reported in Irish subjects have been shown to be functional null alleles. These initial family-based and case-control studies were all centered on the effect of FLG in patients with eczema, whereas so far, the incidence of FLG null alleles in the general population and their role in atopic diseases other than eczema has not been determined sufficiently
  • The expression of filaggrin in the skin and other keratinizing epithelia such as the oral cavity and the conjunctiva may suggest that organs in addition to the skin could be affected by FLG mutations
  • 5 FLG mutations previously identified to result in a deficiency of filaggrin expression were genotyped in 3099 German children
  • The association with allergic rhinitis was independent from the presence or absence of concomitant asthma, and could be observed in both subpopulations when analyzed independently
  • On the basis of these results, FLG must be considered to be a major gene in the development of eczema, atopic sensitization, and allergic rhinitis, with a significant effect in asthma that is restricted to patients with a history of eczema
  • The expression of filaggrin in the skin and other keratinizing epithelia such as the oral cavity and the conjunctiva may suggest that organs in addition to the skin could be affected by filaggrin gene mutations

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