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GWAS Study

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

Ellinghaus D, Baurecht H, Esparza-Gordillo J et al.

23727859 PubMed ID
GWAS Study Type
14424 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

ED
Ellinghaus D
BH
Baurecht H
EJ
Esparza-Gordillo J
RE
Rodríguez E
MA
Matanovic A
MI
Marenholz I
HN
Hübner N
SH
Schaarschmidt H
NN
Novak N
MS
Michel S
ML
Maintz L
WT
Werfel T
MU
Meyer-Hoffert U
HM
Hotze M
PH
Prokisch H
HK
Heim K
HC
Herder C
HT
Hirota T
TM
Tamari M
KM
Kubo M
TA
Takahashi A
NY
Nakamura Y
TL
Tsoi LC
SP
Stuart P
EJ
Elder JT
SL
Sun L
ZX
Zuo X
YS
Yang S
ZX
Zhang X
HP
Hoffmann P
NM
Nöthen MM
FR
Fölster-Holst R
WJ
Winkelmann J
IT
Illig T
BB
Boehm BO
DR
Duerr RH
BC
Büning C
BS
Brand S
GJ
Glas J
MM
McAleer MA
FC
Fahy CM
KM
Kabesch M
BS
Brown S
MW
McLean WH
IA
Irvine AD
SS
Schreiber S
LY
Lee YA
FA
Franke A
WS
Weidinger S
Chapter II

Abstract

Summary of the research findings

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.

2,425 European ancestry cases, 5,449 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

14424
Total Participants
GWAS
Study Type
Yes
Replicated
1,951 European ancestry cases, 4,599 European ancestry controls
Replication Participants
European
Ancestry
Germany, Republic of Ireland
Recruitment Country
Chapter IV

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