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Atopic dermatitis (AD) is a commonly occurring chronic skin disease with high heritability. Apart from filaggrin (FLG), the genes influencing atopic dermatitis are largely unknown. We conducted a genome-wide association meta-analysis of 5,606 affected individuals and 20,565 controls from 16 population-based cohorts and then examined the ten most strongly associated new susceptibility loci in an additional 5,419 affected individuals and 19,833 controls from 14 studies. Three SNPs reached genome-wide significance in the discovery and replication cohorts combined, including rs479844 upstream of OVOL1 (odds ratio (OR) = 0.88, P = 1.1 × 10(-13)) and rs2164983 near ACTL9 (OR = 1.16, P = 7.1 × 10(-9)), both of which are near genes that have been implicated in epidermal proliferation and differentiation, as well as rs2897442 in KIF3A within the cytokine cluster at 5q31.1 (OR = 1.11, P = 3.8 × 10(-8)). We also replicated association with the FLG locus and with two recently identified association signals at 11q13.5 (rs7927894; P = 0.008) and 20q13.33 (rs6010620; P = 0.002). Our results underline the importance of both epidermal barrier function and immune dysregulation in atopic dermatitis pathogenesis.

Original publication




Journal article


Nature genetics

Publication Date





187 - 192


Medical Research Council Centre for Causal Analyses in Translational Epidemiology, University of Bristol, Bristol, UK.


Australian Asthma Genetics Consortium (AAGC), Genetics of Overweight Young Adults (GOYA) Consortium, EArly Genetics & Lifecourse Epidemiology (EAGLE) Consortium, Epidermis, Chromosomes, Human, Pair 5, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 20, Humans, Dermatitis, Atopic, Genetic Predisposition to Disease, Intermediate Filament Proteins, Kinesin, DNA-Binding Proteins, Transcription Factors, Cytokines, Risk, Cell Differentiation, Polymorphism, Single Nucleotide, Female, Male, Genome-Wide Association Study, Genetic Loci