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High-density genotyping study identifies four new susceptibility loci for atopic dermatitis

Item Type:Article
Title:High-density genotyping study identifies four new susceptibility loci for atopic dermatitis
Creators Name:Ellinghaus, D. and Baurecht, H. and Esparza-Gordillo, J. and Rodriguez, E. and Matanovic, A. and Marenholz, I. and Huebner, N. and Schaarschmidt, H. and Novak, N. and Michel, S. and Maintz, L. and Werfel, T. and Meyer-Hoffert, U. and Hotze, M. and Prokisch, H. and Heim, K. and Herder, C. and Hirota, T. and Tamari, M. and Kubo, M. and Takahashi, A. and Nakamura, Y. and Tsoi, L.C. and Stuart, P. and Elder, J.T. and Sun, L. and Zuo, X. and Yang, S. and Zhang, X. and Hoffmann, P. and Noethen, M.M. and Foelster-Holst, R. and Winkelmann, J. and Illig, T. and Boehm, B.O. and Duerr, R.H. and Buening, C. and Brandt, S. and Glas, J. and McAleer, M.A. and Fahy, C.M. and Kabesch, M. and Brown, S. and McLean, W.H.I. and Irvine, A.D. and Schreiber, S. and Lee, Y.A. and Franke, A. and Weidinger, S.
Abstract:Atopic dermatitis is a common inflammatory skin disease with a strong heritable component. Pathogenetic models consider keratinocyte differentiation defects and immune alterations as scaffolds, and recent data indicate a role for autoreactivity in at least a subgroup of patients. FLG (encoding filaggrin) has been identified as a major locus causing skin barrier deficiency. To better define risk variants and identify additional susceptibility loci, we densely genotyped 2,425 German individuals with atopic dermatitis (cases) and 5,449 controls using the Immunochip array followed by replication in 7,196 cases and 15,480 controls from Germany, Ireland, Japan and China. We identified four new susceptibility loci for atopic dermatitis and replicated previous associations. This brings the number of atopic dermatitis risk loci reported in individuals of European ancestry to 11. We estimate that these susceptibility loci together account for 14.4% of the heritability for atopic dermatitis.
Keywords:Asian Continental Ancestry Group, Atopic Dermatitis, Case-Control Studies, European Continental Ancestry Group, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotyping Techniques, Germany, High-Throughput Nucleotide Sequencing, Intermediate Filament Proteins, Japan, Meta-Analysis as Topic, Single Nucleotide Polymorphism
Source:Nature Genetics
ISSN:1061-4036
Publisher:Nature Publishing Group (U.S.A.)
Volume:45
Number:7
Page Range:808-812
Date:July 2013
Official Publication:https://doi.org/10.1038/ng.2642
PubMed:View item in PubMed

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