Loss-of-function variants of the filaggrin gene are associated with atopic eczema and associated phenotypes in Swedish families

Elisabeth Ekelund, Agne Lieden, Jenny Link, Simon P. Lee, Mauro D'Amato, Colin N. A. Palmer, Ingrid Kockum, Maria Bradley

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    Abstract

    Recent studies have identified 2 loss-of-function variants, R501X and 2282del4, in the filaggrin gene as predisposing factors in the development of eczema. In this study, representing the first analysis of the variants in a Swedish population, we analysed transmission in 406 multiplex eczema families with mainly adult patients. In accordance with previous studies we found association between the filaggrin gene variants and atopic eczema (p=9.5x10(-8)). The highest odds ratio for the combined alllele, 4.73 (1.98-11.29), p=3.6x10(-8), was found for the subgroup with a severe eczema phenotype, and association was also found with raised allergen-specific IgE, allergic asthma and allergic rhinoconjunctivitis occurring in the context of eczema. Our results support an important role for the filaggrin gene variants R501 X and 2282del4 in the development and severity of atopic eczema and indicate a possible role for the subsequent progression into eczema-associated phenotypes.

    Original languageEnglish
    Pages (from-to)15-19
    Number of pages5
    JournalActa Dermato-Venereologica
    Volume88
    Issue number1
    DOIs
    Publication statusPublished - 2008

    Keywords

    • eczema
    • atopic dermatitis
    • genetic association
    • filaggrin
    • R501X
    • 2282del4
    • ICHTHYOSIS VULGARIS
    • SUSCEPTIBILITY LOCI
    • FUNCTION MUTATIONS
    • DERMATITIS
    • PREDISPOSE
    • POPULATION
    • ORGANIZATION
    • LINKAGE
    • PROTEIN

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