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

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=9.5 x 10(-8)). The highest odds ratio for the combined allele, 4.73 (1.98-11.29), p=3.6 x 10(-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 R501X and 2282del4 in the development and severity of atopic eczema and indicate a possible role for the subsequent progression into eczema-associated phenotypes.
Authors	Elisabeth Ekelund, Agne Liedén, Jenny Link, Simon P Lee, Mauro D'Amato, Colin N A Palmer, Ingrid Kockum, Maria Bradley
Journal	Acta dermato-venereologica (Acta Derm Venereol) Vol. 88 Issue 1 Pg. 15-9 ( 2008) ISSN: 0001-5555 [Print] Sweden
PMID	18176743 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References	FLG protein, human Filaggrin Proteins Intermediate Filament Proteins Immunoglobulin E
Topics	Adolescent Adult Asthma (genetics) Child Child, Preschool Dermatitis, Atopic (diagnosis, genetics, physiopathology) Eczema (diagnosis, genetics, physiopathology) Female Filaggrin Proteins Gene Frequency Genetic Predisposition to Disease Genotype Humans Immunoglobulin E (blood) Infant Intermediate Filament Proteins (genetics, physiology) Male Mutation Pedigree Phenotype Polymerase Chain Reaction Polymorphism, Genetic Rhinitis, Allergic, Seasonal (genetics) Sweden

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