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GWAS Study

Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci.

Tsoi LC, Spain SL, Ellinghaus E et al.

25939698 PubMed ID
GWAS Study Type
42873 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

TL
Tsoi LC
SS
Spain SL
EE
Ellinghaus E
SP
Stuart PE
CF
Capon F
KJ
Knight J
TT
Tejasvi T
KH
Kang HM
AM
Allen MH
LS
Lambert S
SS
Stoll SW
WS
Weidinger S
GJ
Gudjonsson JE
KS
Koks S
KK
Kingo K
ET
Esko T
DS
Das S
MA
Metspalu A
WM
Weichenthal M
EC
Enerback C
KG
Krueger GG
VJ
Voorhees JJ
CV
Chandran V
RC
Rosen CF
RP
Rahman P
GD
Gladman DD
RA
Reis A
NR
Nair RP
FA
Franke A
BJ
Barker JNWN
AG
Abecasis GR
TR
Trembath RC
EJ
Elder JT
Chapter II

Abstract

Summary of the research findings

Psoriasis is a chronic autoimmune disease with complex genetic architecture. Previous genome-wide association studies (GWAS) and a recent meta-analysis using Immunochip data have uncovered 36 susceptibility loci. Here, we extend our previous meta-analysis of European ancestry by refined genotype calling and imputation and by the addition of 5,033 cases and 5,707 controls. The combined analysis, consisting of over 15,000 cases and 27,000 controls, identifies five new psoriasis susceptibility loci at genome-wide significance (P<5 × 10(-8)). The newly identified signals include two that reside in intergenic regions (1q31.1 and 5p13.1) and three residing near PLCL2 (3p24.3), NFKBIZ (3q12.3) and CAMK2G (10q22.2). We further demonstrate that NFKBIZ is a TRAF3IP2-dependent target of IL-17 signalling in human skin keratinocytes, thereby functionally linking two strong candidate genes. These results further integrate the genetics and immunology of psoriasis, suggesting new avenues for functional analysis and improved therapies.

3,994 European ancestry cases, 7,699 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

42873
Total Participants
GWAS
Study Type
Yes
Replicated
6,268 European ancestry cases, 14,172 European ancestry controls, 5,033 cases, 5,707 controls
Replication Participants
European
Ancestry
Chapter IV

AI-Generated Summary

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