title: High-density genotyping study identifies four new susceptibility loci for atopic dermatitis.
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.
authors.affiliation: Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.
authors.forename: David
authors.initials: D
authors.lastname: Ellinghaus
authors.forename: Hansjörg
authors.initials: H
authors.lastname: Baurecht
authors.forename: Jorge
authors.initials: J
authors.lastname: Esparza-Gordillo
authors.forename: Elke
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authors.lastname: Rodríguez
authors.forename: Anja
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authors.lastname: Matanovic
authors.forename: Ingo
authors.initials: I
authors.lastname: Marenholz
authors.forename: Norbert
authors.initials: N
authors.lastname: Hübner
authors.forename: Heidi
authors.initials: H
authors.lastname: Schaarschmidt
authors.forename: Natalija
authors.initials: N
authors.lastname: Novak
authors.forename: Sven
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authors.lastname: Michel
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authors.lastname: Maintz
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authors.lastname: Werfel
authors.forename: Ulf
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authors.lastname: Meyer-Hoffert
authors.forename: Melanie
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authors.lastname: Hotze
authors.forename: Holger
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authors.lastname: Prokisch
authors.forename: Katharina
authors.initials: K
authors.lastname: Heim
authors.forename: Christian
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authors.lastname: Herder
authors.forename: Tomomitsu
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authors.lastname: Hirota
authors.forename: Mayumi
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authors.forename: Michiaki
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authors.forename: Atsushi
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authors.lastname: Takahashi
authors.forename: Yusuke
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authors.lastname: Nakamura
authors.forename: Lam C
authors.initials: LC
authors.lastname: Tsoi
authors.forename: Philip
authors.initials: P
authors.lastname: Stuart
authors.forename: James T
authors.initials: JT
authors.lastname: Elder
authors.forename: Liangdan
authors.initials: L
authors.lastname: Sun
authors.forename: Xianbo
authors.initials: X
authors.lastname: Zuo
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
authors.forename: Xuejun
authors.initials: X
authors.lastname: Zhang
authors.forename: Per
authors.initials: P
authors.lastname: Hoffmann
authors.forename: Markus M
authors.initials: MM
authors.lastname: Nöthen
authors.forename: Regina
authors.initials: R
authors.lastname: Fölster-Holst
authors.forename: Juliane
authors.initials: J
authors.lastname: Winkelmann
authors.forename: Thomas
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authors.lastname: Illig
authors.forename: Bernhard O
authors.initials: BO
authors.lastname: Boehm
authors.forename: Richard H
authors.initials: RH
authors.lastname: Duerr
authors.forename: Carsten
authors.initials: C
authors.lastname: Büning
authors.forename: Stephan
authors.initials: S
authors.lastname: Brand
authors.forename: Jürgen
authors.initials: J
authors.lastname: Glas
authors.forename: Maeve A
authors.initials: MA
authors.lastname: McAleer
authors.forename: Caoimhe M
authors.initials: CM
authors.lastname: Fahy
authors.forename: Michael
authors.initials: M
authors.lastname: Kabesch
authors.forename: Sara
authors.initials: S
authors.lastname: Brown
authors.forename: W H Irwin
authors.initials: WH
authors.lastname: McLean
authors.forename: Alan D
authors.initials: AD
authors.lastname: Irvine
authors.forename: Stefan
authors.initials: S
authors.lastname: Schreiber
authors.forename: Young-Ae
authors.initials: YA
authors.lastname: Lee
authors.forename: Andre
authors.initials: A
authors.lastname: Franke
authors.forename: Stephan
authors.initials: S
authors.lastname: Weidinger
mesh_terms: D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D003876:Dermatitis, Atopic / Q000208:ethnology / Q000235:genetics*; D005260:Female; D000091344:Filaggrin Proteins; D056426:Genetic Loci / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D055106:Genome-Wide Association Study; D060005:Genotyping Techniques; D005858:Germany; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics; D007564:Japan; D008297:Male; D015201:Meta-Analysis as Topic; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins