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GWAS Study

Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets.

Zhao JH, Stacey D, Eriksson N et al.

37563310 PubMed ID
GWAS Study Type
16321 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

ZJ
Zhao JH
SD
Stacey D
EN
Eriksson N
ME
Macdonald-Dunlop E
Hedman ÅK
KA
Kalnapenkis A
ES
Enroth S
CD
Cozzetto D
DJ
Digby-Bell J
MJ
Marten J
FL
Folkersen L
HC
Herder C
JL
Jonsson L
BS
Bergen SE
GC
Gieger C
NE
Needham EJ
SP
Surendran P
PD
Paul DS
PO
Polasek O
TB
Thorand B
GH
Grallert H
RM
Roden M
VU
Võsa U
ET
Esko T
HC
Hayward C
Johansson Å
GU
Gyllensten U
PN
Powell N
HO
Hansson O
MN
Mattsson-Carlgren N
JP
Joshi PK
DJ
Danesh J
PL
Padyukov L
KL
Klareskog L
LM
Landén M
WJ
Wilson JF
SA
Siegbahn A
WL
Wallentin L
MA
Mälarstig A
BA
Butterworth AS
PJ
Peters JE
Chapter II

Abstract

Summary of the research findings

Circulating proteins have important functions in inflammation and a broad range of diseases. To identify genetic influences on inflammation-related proteins, we conducted a genome-wide protein quantitative trait locus (pQTL) study of 91 plasma proteins measured using the Olink Target platform in 14,824 participants. We identified 180 pQTLs (59 cis, 121 trans). Integration of pQTL data with eQTL and disease genome-wide association studies provided insight into pathogenesis, implicating lymphotoxin-α in multiple sclerosis. Using Mendelian randomization (MR) to assess causality in disease etiology, we identified both shared and distinct effects of specific proteins across immune-mediated diseases, including directionally discordant effects of CD40 on risk of rheumatoid arthritis versus multiple sclerosis and inflammatory bowel disease. MR implicated CXCL5 in the etiology of ulcerative colitis (UC) and we show elevated gut CXCL5 transcript expression in patients with UC. These results identify targets of existing drugs and provide a powerful resource to facilitate future drug target prioritization.

14,736 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

16321
Total Participants
GWAS
Study Type
Yes
Replicated
1,585 European or unknown ancestry individuals
Replication Participants
European, European, NR
Ancestry
Sweden, Denmark, U.K., Germany, Estonia, Croatia
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

Our analysis of this publication is currently being prepared. Please check back soon for comprehensive insights into the health and genetic findings discussed in this research.