title: Genotype-phenotype associations in filaggrin loss-of-function mutation carriers.
abstract: BACKGROUND
  Loss-of-function mutations in the filaggrin gene (FLG) have been reported to be associated with specific phenotypic characteristics such as hyperlinearity and keratosis pilaris.
  
  
  OBJECTIVE
  To study phenotypic features in patients with occupational irritant contact eczema of the hands in relation to FLG loss-of-function mutations.
  
  
  METHODS
  In a prospective cohort study, genotype was determined for 459 study subjects for four FLG null alleles, and investigated for selected history, clinical and laboratory features.
  
  
  RESULTS
  Overall, 68 patients showed a mutation in the FLG alleles R501X, R2447X, S3247X, and/or 2282del4. Flexural eczema, xerosis cutis, pityriasis alba, dirty neck, pulpitis sicca, hyperlinear palms, keratosis pilaris and family history of eczema were positively associated with FLG mutations (p < 0.05). Although we observed a statistically significant correlation with higher serum IgE in FLG mutation carriers, allergic rhinoconjunctivitis and allergic asthma were not over-represented in this group.
  
  
  CONCLUSIONS
  This study shows further genotype-phenotype correlations in patients with occupational irritant contact eczema and FLG mutation carrier status. These features may help to identify those with FLG mutations on a specific phenotype basis.
authors: Department of Dermatology, Environmental Medicine and Health Theory, University of Osnabrück, 49090 Osnabrück, Germany. llandeck@uos.de
authors: Lilla
authors: L
authors: Landeck
authors: Maaike
authors: M
authors: Visser
authors: Sanja
authors: S
authors: Kezic
authors: Swen M
authors: SM
authors: John
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000368:Aged; D015331:Cohort Studies; D007644:Darier Disease / Q000235:genetics; D017453:Dermatitis, Irritant / Q000235:genetics*; D009783:Dermatitis, Occupational / Q000235:genetics*; D005138:Eyebrows / Q000002:abnormalities; D005260:Female; D000091344:Filaggrin Proteins; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics; D017496:Hypopigmentation / Q000235:genetics; D007073:Immunoglobulin E / Q000097:blood; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011446:Prospective Studies; D055815:Young Adult
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins; D007073:Immunoglobulin E