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

Publication

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

Journal Paper/Review - Jun 2, 2013

Weidinger Stephan, Duerr Richard H, Boehm Bernhard O, Illig Thomas, Winkelmann Juliane, Fölster-Holst Regina, Nöthen Markus M, Hoffmann Per, Zhang Xuejun, Yang Sen, Zuo Xianbo, Büning Carsten, Brand Stephan, Franke Andre, Lee Young-Ae, Schreiber Stefan, Irvine Alan D, McLean W H Irwin, Brown Sara, Kabesch Michael, Fahy Caoimhe M, McAleer Maeve A, Glas Jürgen, Sun Liangdan, Elder James T, Stuart Philip, Maintz Laura, Michel Sven, Novak Natalija, Schaarschmidt Heidi, Hübner Norbert, Marenholz Ingo, Matanovic Anja, Rodríguez Elke, Esparza-Gordillo Jorge, Baurecht Hansjörg, Werfel Thomas, Meyer-Hoffert Ulf, Tsoi Lam C, Nakamura Yusuke, Takahashi Atsushi, Kubo Michiaki, Tamari Mayumi, Hirota Tomomitsu, Herder Christian, Heim Katharina, Prokisch Holger, Hotze Melanie, Ellinghaus David

Citation

Weidinger S, Duerr R, Boehm B, Illig T, Winkelmann J, Fölster-Holst R, Nöthen M, Hoffmann P, Zhang X, Yang S, Zuo X, Büning C, Brand S, Franke A, Lee Y, Schreiber S, Irvine A, McLean W, Brown S, Kabesch M, Fahy C, McAleer M, Glas J, Sun L, Elder J, Stuart P, Maintz L, Michel S, Novak N, Schaarschmidt H, Hübner N, Marenholz I, Matanovic A, Rodríguez E, Esparza-Gordillo J, Baurecht H, Werfel T, Meyer-Hoffert U, Tsoi L, Nakamura Y, Takahashi A, Kubo M, Tamari M, Hirota T, Herder C, Heim K, Prokisch H, Hotze M, Ellinghaus D. High-density genotyping study identifies four new susceptibility loci for atopic dermatitis. Nat Genet 2013; 45:808-12.

Type

Journal Paper/Review (English)

Journal

Nat Genet 2013; 45

Publication Date

Jun 2, 2013

Issn Electronic

1546-1718

Pages

808-12

Brief description/objective

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.