title: Trying to understand the genetics of atopic dermatitis.
abstract: Atopic dermatitis (AD) is a common and complex skin disease associated with both genetic and environmental factors. Loss-of-function mutations in the filaggrin gene, encoding a structural protein with an important role in epidermal barrier function, constitutes a well recognised susceptibility locus for AD. Further, genome-wide association studies (GWAS), including large meta-analyses, have discovered 38 additional susceptibility loci with genome-wide significance. However, the reported variations only explain a fraction of the overall heritability of AD. Here, we summarize the current knowledge of the role of filaggrin and the epidermal differentiation complex as well as the results of GWAS, with an emphasis on novel findings and observations made in the past two years. Additionally, we present first results of exome sequencing for AD and discuss novel therapeutic strategies.
authors.affiliation: Department of Human Genetics, Ruhr-University, Bochum, Germany. Electronic address: susanne.stemmler@rub.de.
authors.forename: Susanne
authors.initials: S
authors.lastname: Stemmler
authors.affiliation: Department of Human Genetics, Ruhr-University, Bochum, Germany.
authors.forename: Sabine
authors.initials: S
authors.lastname: Hoffjan
mesh_terms: D003876:Dermatitis, Atopic / Q000235:genetics*; D004817:Epidermis / Q000378:metabolism / Q000473:pathology; D059472:Exome / Q000235:genetics; D000091344:Filaggrin Proteins; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D055106:Genome-Wide Association Study / Q000379:methods*; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics; D009154:Mutation; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins
keywords: Association; Atopic dermatitis; Eczema; Epigenetics; Filaggrin; GWAS; Next-generation sequencing