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

Paternoster, Lavinia
Standl, Marie
CollaborationWith : Dermitzakis, Emmanouil / Montgomery, Stephen
Published in Nature genetics. 2012, vol. 44, no. 2, p. 187-92
Abstract 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.
Keywords Cell Differentiation/geneticsChromosomes, Human, Pair 11/geneticsChromosomes, Human, Pair 20/geneticsChromosomes, Human, Pair 5Cytokines/geneticsDNA-Binding Proteins/geneticsDermatitis, Atopic/genetics/immunologyEpidermis/immunologyFemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIntermediate Filament Proteins/geneticsKinesin/geneticsMalePolymorphism, Single NucleotideRiskTranscription Factors/genetics
PMID: 22197932
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Article (Published version) (1.3 MB) - public document Free access
Research group Population Genomics and Genetics of Complex Traits (892)
Autre: Jeantet
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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. 187-92. doi: 10.1038/ng.1017 https://archive-ouverte.unige.ch/unige:32198

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Deposited on : 2013-12-16

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