Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients

Int J Immunogenet. 2009 Aug;36(4):217-22. doi: 10.1111/j.1744-313X.2009.00858.x.


The filaggrin (FLG) gene is one of the most widely replicated susceptibility genes for atopic dermatitis (AD) so far. Yet, FLG mutations cannot fully account for the original linkage peak on chromosome 1q21, a region comprising the so-called epidermal differentiation complex (EDC). Since the EDC contains numerous genes relevant for epidermal differentiation, we sought to evaluate variation in other genes located in this region in a German AD case-control cohort. Thirty-two single nucleotide polymorphisms (SNPs) in 21 genes across the EDC were genotyped in 402 unrelated AD patients and 325 non-atopic controls by means of restriction enzyme digestion or TaqMan assays. Allele and genotype frequencies were tested for differences between patients and controls by logistic regression. Haplotype frequencies were evaluated using the famhap software. Except for the already known association with FLG, we did not identify any additional significant associations of EDC genes with AD. Thus, in this German cohort, there is no evidence that additional genes in the EDC region apart from FLG contribute substantially to AD pathogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Case-Control Studies
  • Cell Differentiation / genetics*
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 1 / genetics
  • Chromosomes, Human, Pair 1 / immunology
  • Dermatitis, Atopic / epidemiology
  • Dermatitis, Atopic / genetics*
  • Epidermis / immunology*
  • Epidermis / pathology
  • Gene Frequency / genetics*
  • Gene Frequency / immunology
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Germany / epidemiology
  • Haplotypes / genetics
  • Haplotypes / immunology
  • Humans
  • Infant
  • Intermediate Filament Proteins / genetics*
  • Intermediate Filament Proteins / immunology
  • Linkage Disequilibrium / genetics
  • Linkage Disequilibrium / immunology
  • Polymorphism, Single Nucleotide
  • Young Adult


  • Intermediate Filament Proteins
  • filaggrin