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European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation.

Budu-Aggrey A, Kilanowski A, Sobczyk MK et al.

37794016 PubMed ID
GWAS Study Type
4690421 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

BA
Budu-Aggrey A
KA
Kilanowski A
SM
Sobczyk MK
SS
Shringarpure SS
MR
Mitchell R
RK
Reis K
RA
Reigo A
MR
Mägi R
NM
Nelis M
TN
Tanaka N
BB
Brumpton BM
TL
Thomas LF
SP
Sole-Navais P
FC
Flatley C
EA
Espuela-Ortiz A
HE
Herrera-Luis E
LJ
Lominchar JVT
BJ
Bork-Jensen J
MI
Marenholz I
AA
Arnau-Soler A
JA
Jeong A
FK
Fawcett KA
BH
Baurecht H
RE
Rodriguez E
AA
Alves AC
KA
Kumar A
SP
Sleiman PM
CX
Chang X
MC
Medina-Gomez C
HC
Hu C
XC
Xu CJ
QC
Qi C
ES
El-Heis S
TP
Titcombe P
AE
Antoun E
FJ
Fadista J
WC
Wang CA
TE
Thiering E
WB
Wu B
KS
Kress S
KD
Kothalawala DM
KL
Kadalayil L
DJ
Duan J
ZH
Zhang H
HS
Hadebe S
HT
Hoffmann T
JE
Jorgenson E
CH
Choquet H
RN
Risch N
NP
Njølstad P
AO
Andreassen OA
JS
Johansson S
AC
Almqvist C
GT
Gong T
UV
Ullemar V
KR
Karlsson R
MP
Magnusson PKE
SA
Szwajda A
BE
Burchard EG
TJ
Thyssen JP
HT
Hansen T
KL
Kårhus LL
DT
Dantoft TM
JA
Jeanrenaud ACSN
GA
Ghauri A
AA
Arnold A
HG
Homuth G
LS
Lau S
NM
Nöthen MM
HN
Hübner N
IM
Imboden M
VA
Visconti A
FM
Falchi M
BV
Bataille V
HP
Hysi P
BN
Ballardini N
BD
Boomsma DI
HJ
Hottenga JJ
MM
Müller-Nurasyid M
AT
Ahluwalia TS
SJ
Stokholm J
CB
Chawes B
SA
Schoos AM
EA
Esplugues A
BM
Bustamante M
RB
Raby B
AS
Arshad S
GC
German C
ET
Esko T
ML
Milani LA
MA
Metspalu A
TC
Terao C
AK
Abuabara K
LM
Løset M
HK
Hveem K
JB
Jacobsson B
PM
Pino-Yanes M
SD
Strachan DP
GN
Grarup N
LA
Linneberg A
LY
Lee YA
PN
Probst-Hensch N
WS
Weidinger S
JM
Jarvelin MR
ME
Melén E
HH
Hakonarson H
IA
Irvine AD
JD
Jarvis D
NT
Nijsten T
DL
Duijts L
VJ
Vonk JM
KG
Koppelmann GH
GK
Godfrey KM
BS
Barton SJ
FB
Feenstra B
PC
Pennell CE
SP
Sly PD
HP
Holt PG
WL
Williams LK
BH
Bisgaard H
BK
Bønnelykke K
CJ
Curtin J
SA
Simpson A
MC
Murray C
ST
Schikowski T
BS
Bunyavanich S
WS
Weiss ST
HJ
Holloway JW
MJ
Min JL
BS
Brown SJ
SM
Standl M
PL
Paternoster L
Chapter II

Abstract

Summary of the research findings

Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery N = 1,086,394, replication N = 3,604,027), combining previously reported cohorts with additional available data. We identified 81 loci (29 novel) in the European-only analysis (which all replicated in a separate European analysis) and 10 additional loci in the multi-ancestry analysis (3 novel). Eight variants from the multi-ancestry analysis replicated in at least one of the populations tested (European, Latino or African), while two may be specific to individuals of Japanese ancestry. AD loci showed enrichment for DNAse I hypersensitivity and eQTL associations in blood. At each locus we prioritised candidate genes by integrating multi-omic data. The implicated genes are predominantly in immune pathways of relevance to atopic inflammation and some offer drug repurposing opportunities.

60,653 European ancestry cases, 804,329 European ancestry controls, 368 Latino cases, 3,976 Latino controls, 863 mixed ancestry cases, 1,273 mixed ancestry controls, 2,385 Japanese ancestry cases, 209,651 Japanese ancestry controls, 838 African American cases, 2,058 African American controls

Chapter III

Study Statistics

Key metrics and study information

4690421
Total Participants
GWAS
Study Type
Yes
Replicated
387,407 European ancestry cases, 2,517,257 European ancestry controls, 25,813 African ancestry cases, 148,202 African ancestry controls, 58,909 Latino cases, 466,439 Latino controls
Replication Participants
European, Hispanic or Latin American, Other admixed ancestry, East Asian, African American or Afro-Caribbean, African unspecified
Ancestry
Sweden, Netherlands, U.S., Norway, Finland, Denmark, U.K., Australia, Switzerland, Germany, Estonia, Spain, Japan
Recruitment Country
Chapter IV

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