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GWAS Study

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.

Dand N, Stuart PE, Bowes J et al.

40021644 PubMed ID
GWAS Study Type
494544 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

DN
Dand N
SP
Stuart PE
BJ
Bowes J
ED
Ellinghaus D
NJ
Nititham J
SJ
Saklatvala JR
TM
Teder-Laving M
TL
Thomas LF
TT
Traks T
US
Uebe S
AG
Assmann G
BD
Baudry D
BF
Behrens F
BA
Billi AC
BM
Brown MA
BH
Burkhardt H
CF
Capon F
CR
Chung R
CC
Curtis CJ
DM
Duckworth M
EE
Ellinghaus E
FO
FitzGerald O
GS
Gerdes S
GC
Griffiths CEM
GS
Gulliver S
HP
Helliwell PS
HP
Ho P
HP
Hoffmann P
HO
Holmen OL
HZ
Huang ZM
HK
Hveem K
JD
Jadon D
KM
Köhm M
KC
Kraus C
LC
Lamacchia C
LS
Lee SH
MF
Ma F
MS
Mahil SK
MN
McHugh N
MR
McManus R
ME
Modalsli EH
NM
Nissen MJ
NM
Nöthen M
OV
Oji V
OJ
Oksenberg JR
PM
Patrick MT
PW
Perez White BE
RA
Ramming A
RJ
Rech J
RC
Rosen C
SM
Sarkar MK
SG
Schett G
SB
Schmidt B
TT
Tejasvi T
TH
Traupe H
VJ
Voorhees JJ
WE
Wacker EM
WR
Warren RB
WR
Wasikowski R
WS
Weidinger S
WX
Wen X
ZZ
Zhang Z
BA
Barton A
CV
Chandran V
ET
Esko T
FJ
Foerster J
FA
Franke A
GD
Gladman DD
GJ
Gudjonsson JE
GW
Gulliver W
HU
Hüffmeier U
KK
Kingo K
KS
Kõks S
LW
Liao W
LM
Løset M
MR
Mägi R
NR
Nair RP
RP
Rahman P
RA
Reis A
SC
Smith CH
DM
Di Meglio P
BJ
Barker JN
TL
Tsoi LC
SM
Simpson MA
EJ
Elder JT
Chapter II

Abstract

Summary of the research findings

Psoriasis is a common, debilitating immune-mediated skin disease. Genetic studies have identified biological mechanisms of psoriasis risk, including those targeted by effective therapies. However, the genetic liability to psoriasis is not fully explained by variation at robustly identified risk loci. To refine the genetic map of psoriasis susceptibility we meta-analysed 18 GWAS comprising 36,466 cases and 458,078 controls and identified 109 distinct psoriasis susceptibility loci, including 46 that have not been previously reported. These include susceptibility variants at loci in which the therapeutic targets IL17RA and AHR are encoded, and deleterious coding variants supporting potential new drug targets (including in STAP2, CPVL and POU2F3). We conducted a transcriptome-wide association study to identify regulatory effects of psoriasis susceptibility variants and cross-referenced these against single cell expression profiles in psoriasis-affected skin, highlighting roles for the transcriptional regulation of haematopoietic cell development and epigenetic modulation of interferon signalling in psoriasis pathobiology.

36,466 European ancestry cases, 458,078 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

494544
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
Canada, U.S., Norway, U.K., Germany, Estonia
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

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