title: Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients.
abstract: 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.
authors: Department of Human Genetics, Ruhr University, Universitätsstrasse 150, Bochum, Germany. susanne.stemmler@rub.de
authors: S
authors: S
authors: Stemmler
authors: M
authors: M
authors: Nothnagel
authors: Q
authors: Q
authors: Parwez
authors: E
authors: E
authors: Petrasch-Parwez
authors: J T
authors: JT
authors: Epplen
authors: S
authors: S
authors: Hoffjan
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D002454:Cell Differentiation / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics / Q000276:immunology; D003876:Dermatitis, Atopic / Q000453:epidemiology / Q000235:genetics*; D004817:Epidermis / Q000276:immunology* / Q000473:pathology; D000091344:Filaggrin Proteins; D005787:Gene Frequency / Q000235:genetics* / Q000276:immunology; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005838:Genotype; D005858:Germany / Q000453:epidemiology; D006239:Haplotypes / Q000235:genetics / Q000276:immunology; D006801:Humans; D007223:Infant; D007381:Intermediate Filament Proteins / Q000235:genetics* / Q000276:immunology; D015810:Linkage Disequilibrium / Q000235:genetics / Q000276:immunology; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins