Scientific article
Open access

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

Published inNature genetics, vol. 44, no. 2, p. 187-192
Publication date2012

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.

  • Cell Differentiation/genetics
  • Chromosomes, Human, Pair 11/genetics
  • Chromosomes, Human, Pair 20/genetics
  • Chromosomes, Human, Pair 5
  • Cytokines/genetics
  • DNA-Binding Proteins/genetics
  • Dermatitis, Atopic/genetics/immunology
  • Epidermis/immunology
  • Female
  • Genetic Loci
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Intermediate Filament Proteins/genetics
  • Kinesin/genetics
  • Male
  • Polymorphism, Single Nucleotide
  • Risk
  • Transcription Factors/genetics
  • Autre - Jeantet
Citation (ISO format)
PATERNOSTER, Lavinia, STANDL, Marie. Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. In: Nature genetics, 2012, vol. 44, n° 2, p. 187–192. doi: 10.1038/ng.1017
Main files (1)
Article (Published version)
ISSN of the journal1061-4036

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