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@ARTICLE{Konieczny:275888,
author = {Konieczny, Marek J and Omarov, Murad and Zhang, Lanyue and
Malik, Rainer and Richardson, Tom G and Baumeister,
Sebastian-Edgar and Bernhagen, Jürgen and Dichgans, Martin
and Georgakis, Marios K},
title = {{T}he genomic architecture of circulating cytokine levels
points to drug targets for immune-related diseases.},
journal = {Communications biology},
volume = {8},
number = {1},
issn = {2399-3642},
address = {London},
publisher = {Springer Nature},
reportid = {DZNE-2025-00123},
pages = {34},
year = {2025},
abstract = {Circulating cytokines orchestrate immune reactions and are
promising drug targets for immune-mediated and inflammatory
diseases. Exploring the genetic architecture of circulating
cytokine levels could yield key insights into causal
mediators of human disease. Here, we performed genome-wide
association studies (GWAS) for 40 circulating cytokines in
meta-analyses of 74,783 individuals. We detected 359
significant associations between cytokine levels and
variants in 169 independent loci, including 150 trans- and
19 cis-acting loci. Integration with transcriptomic data
point to key regulatory mechanisms, such as the buffering
function of the Atypical Chemokine Receptor 1 (ACKR1) acting
as scavenger for multiple chemokines and the role of tumor
necrosis factor receptor-associated factor 1 (TRAFD1) in
modulating the cytokine storm triggered by TNF signaling.
Applying Mendelian randomization (MR), we detected a network
of complex cytokine interconnections with TNF-b, VEGF, and
IL-1ra exhibiting pleiotropic downstream effects on multiple
cytokines. Drug target cis-MR using 2 independent proteomics
datasets paired with colocalization revealed G-CSF/CSF-3 and
CXCL9/MIG as potential causal mediators of asthma and
Crohn's disease, respectively, but also a potentially
protective role of TNF-b in multiple sclerosis. Our results
provide an overview of the genetic architecture of
circulating cytokines and could guide the development of
targeted immunotherapies.},
keywords = {Humans / Cytokines: blood / Cytokines: genetics /
Cytokines: metabolism / Genome-Wide Association Study /
Immune System Diseases: genetics / Immune System Diseases:
drug therapy / Immune System Diseases: blood / Immune System
Diseases: immunology / Mendelian Randomization Analysis /
Polymorphism, Single Nucleotide / Genomics: methods /
Genetic Predisposition to Disease / Cytokines (NLM
Chemicals)},
cin = {AG Dichgans},
ddc = {570},
cid = {I:(DE-2719)5000022},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:39794498},
pmc = {pmc:PMC11724035},
doi = {10.1038/s42003-025-07453-w},
url = {https://pub.dzne.de/record/275888},
}