Combined occurrence of filaggrin mutations and IL-10 or IL-13 polymorphisms predisposes to atopic dermatitis

Exp Dermatol. 2011 Jun;20(6):491-5. doi: 10.1111/j.1600-0625.2010.01243.x. Epub 2011 Mar 23.

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.

Conclusion: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Substitution
  • Base Sequence
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Dermatitis, Atopic / genetics*
  • Dermatitis, Atopic / immunology*
  • Female
  • Filaggrin Proteins
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Infant
  • Interleukin-10 / genetics*
  • Interleukin-13 / genetics*
  • Intermediate Filament Proteins / genetics*
  • Male
  • Mutation*
  • Polymorphism, Single Nucleotide
  • Sequence Deletion
  • Young Adult

Substances

  • FLG protein, human
  • Filaggrin Proteins
  • IL10 protein, human
  • Interleukin-13
  • Intermediate Filament Proteins
  • Interleukin-10