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https://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 DNA-Binding Proteins Transcription Factors Cytokines Risk Cell Differentiation Polymorphism, Single Nucleotide Female Male Genome-Wide Association Study Genetic Loci Filaggrin Proteins Kinesins |
Rights: | © 2012 Macmillan Publishers Limited. All Rights Reserved. |
DOI: | 10.1038/ng.1017 |
Published version: | http://dx.doi.org/10.1038/ng.1017 |
Appears in Collections: | Aurora harvest 2 Translational Health Science publications |
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