title: Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis.
abstract: BACKGROUND
  Recently, mutations in the filaggrin gene (FLG) have been shown to be a major predisposing factor for atopic dermatitis (AD).
  
  
  OBJECTIVE
  In this study, we evaluated the influence of four prevalent mutations (R501X, 2282del4, R2447X and S3247X) in a large cohort of 462 Austrian and German AD patients and in 402 control individuals.
  
  
  RESULTS
  We found a strong association of the FLG mutations with AD. Subgroup analysis revealed a significantly higher proportion of patients with an early age of disease onset and significantly higher median serum IgE levels among mutation carriers. Furthermore, we observed an overrepresentation of null alleles in AD patients with concomitant asthma compared with those without this co-morbidity.
  
  
  CONCLUSIONS
  Our data confirm and extend the knowledge of the influence of FLG mutations in AD.
authors.affiliation: Department of Dermatology, Division of Immunology, Allergy and Infectious Diseases, Medical University of Vienna, Vienna, Austria.
authors.forename: Ek
authors.initials: E
authors.lastname: Greisenegger
authors.forename: N
authors.initials: N
authors.lastname: Novak
authors.forename: L
authors.initials: L
authors.lastname: Maintz
authors.forename: T
authors.initials: T
authors.lastname: Bieber
authors.forename: F
authors.initials: F
authors.lastname: Zimprich
authors.forename: D
authors.initials: D
authors.lastname: Haubenberger
authors.forename: A
authors.initials: A
authors.lastname: Gleiss
authors.forename: G
authors.initials: G
authors.lastname: Stingl
authors.forename: T
authors.initials: T
authors.lastname: Kopp
authors.forename: A
authors.initials: A
authors.lastname: Zimprich
mesh_terms: D000328:Adult; D001317:Austria; D015331:Cohort Studies; D003876:Dermatitis, Atopic / Q000235:genetics*; D005260:Female; D000091344:Filaggrin Proteins; D005858:Germany; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins