title: Combined occurrence of filaggrin mutations and IL-10 or IL-13 polymorphisms predisposes to atopic dermatitis.
abstract: BACKGROUND
  Although filaggrin mutations are presently believed to play a key role in the development of atopic dermatitis (AD), obviously also immunological factors involved in acquired immune response are important for the development of allergic inflammation.
  
  
  OBJECTIVE
  To assess the frequency of FLG mutations and the polymorphisms 590 C/T in the IL-4 gene, -1082A/G in the IL-10 gene and -1055C/T in the IL-13 gene in patients with AD and their correlations between severity of AD and asthma.
  
  
  METHODS
  R501X and 2282del4 FLG mutations and IL-4, IL-10 and IL-13 polymorphisms were assayed in 163 patients with AD of Polish origin.
  
  
  RESULTS
  In the Polish patients with AD, the prevalence of FLG mutations was higher in patients with AD than in the controls and 2282del4 FLG mutation was more frequent than R501X, and it was associated with a 6-fold higher risk for AD development (P < 0.001; OR: 5.76), moderate or severe disease course, early onset of asthma and palmar hyperlinearity. Significant interactions between the 2282del4 FLG mutation and the CT genotype for IL-13 or GG genotype for IL-10 and a higher risk for developing AD were demonstrated.
  
  
  CONCLUSIONS
  FLG mutation, alone and in combination with certain IL-10 or IL-13 polymorphisms, enhances the risk for the development of AD in the Polish population.
authors.affiliation: Department of Dermatology, Medical University of Lodz, Lodz, Poland.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Lesiak
authors.forename: Piotr
authors.initials: P
authors.lastname: Kuna
authors.forename: Marcin
authors.initials: M
authors.lastname: Zakrzewski
authors.forename: Michael
authors.initials: M
authors.lastname: van Geel
authors.forename: Reno S
authors.initials: RS
authors.lastname: Bladergroen
authors.forename: Karolina
authors.initials: K
authors.lastname: Przybylowska
authors.forename: Iwona
authors.initials: I
authors.lastname: Stelmach
authors.forename: Pawel
authors.initials: P
authors.lastname: Majak
authors.forename: Tomasz
authors.initials: T
authors.lastname: Hawro
authors.forename: Anna
authors.initials: A
authors.lastname: Sysa-Jedrzejowska
authors.forename: Joanna
authors.initials: J
authors.lastname: Narbutt
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003876:Dermatitis, Atopic / Q000235:genetics* / Q000276:immunology*; D005260:Female; D000091344:Filaggrin Proteins; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D007223:Infant; D016753:Interleukin-10 / Q000235:genetics*; D018793:Interleukin-13 / Q000235:genetics*; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; C508609:IL10 protein, human; D018793:Interleukin-13; D007381:Intermediate Filament Proteins; D016753:Interleukin-10