Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/88470
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Type: Journal article
Title: Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis
Author: Paternoster, L.
Palmer, L.
Citation: Nature Genetics, 2012; 44(2):187-192
Publisher: Nature Publishing Group
Issue Date: 2012
ISSN: 1061-4036
1546-1718
Statement of
Responsibility: 
Lavinia Paternoster ... Lyle J. Palmer ... et al.
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: 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
Rights: © 2012 Macmillan Publishers Limited. All Rights Reserved.
RMID: 0020136615
DOI: 10.1038/ng.1017
Appears in Collections:Translational Health Science publications

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