title: Eczema genetics: current state of knowledge and future goals.
abstract: Multiple genetic as well as environmental factors interact in the pathogenesis of eczema. Increased understanding of genetic predisposition in atopy and eczema has directed interest toward key pathogenic mechanisms including skin barrier dysfunction. This review provides a succinct update on the current state of knowledge regarding eczema genetics. We discuss the relevance of loss-of-function mutations in the filaggrin gene within the context of other candidate gene studies and suggest possible applications for future research. Knowledge of genetic factors in eczema may translate into a clearer understanding of pathogenic mechanisms and hence more focused therapeutic strategies, but this remains at present a distant possibility.
authors.affiliation: Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, UK. sara.brown@ncl.ac.uk
authors.forename: Sara J
authors.initials: SJ
authors.lastname: Brown
authors.forename: W H Irwin
authors.initials: WH
authors.lastname: McLean
mesh_terms: D000483:Alleles; D003872:Dermatitis / Q000235:genetics* / Q000378:metabolism; D004485:Eczema / Q000235:genetics*; D000091344:Filaggrin Proteins; D005838:Genotype; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics* / Q000378:metabolism; D008954:Models, Biological; D008957:Models, Genetic; D009154:Mutation; D016017:Odds Ratio; D010641:Phenotype; D053491:Proteinase Inhibitory Proteins, Secretory / Q000235:genetics* / Q000378:metabolism; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D012867:Skin / Q000276:immunology* / Q000473:pathology; D014560:Urocanic Acid / Q000378:metabolism
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins; D053491:Proteinase Inhibitory Proteins, Secretory; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D014560:Urocanic Acid