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@ARTICLE{Zhang:303377,
author = {Z. Zhang and W. Li and Q. Zhan and M. Aillaud and J.
Botey-Bataller and M. Zoodsma and R. Ter Horst and L. A. B.
Joosten and C. Bock and L. N. Schulte and C.-J. Xu and M. G.
Netea and M. J. Bonder$^*$ and Y. Li},
title = {{U}nveiling genetic signatures of immune response in
immune-related diseases through single-cell e{QTL} analysis
across diverse conditions.},
journal = {Nature Communications},
volume = {16},
number = {1},
issn = {2041-1723},
address = {[London]},
publisher = {Springer Nature},
reportid = {DKFZ-2025-01626},
pages = {7134},
year = {2025},
abstract = {Deciphering the intricate regulatory mechanisms underlying
biological processes holds promise for elucidating how
genetic variants contribute to immune-related disorders. We
map genetic effects on gene expression (expression
quantitative trait locus, eQTL) using single-cell
transcriptomes of 152 samples from 38 healthy individuals,
covering baseline state and lipopolysaccharide challenge
either before or after Bacillus Calmette-Guerin vaccination.
Interestingly, we uncover a monocyte eQTL linked to the
LCP1, shedding light on inter-individual variations in
trained immunity. Furthermore, we elucidate genetic and
epigenetic regulatory networks of CD55 and SLFN5. Of note,
our results support the pivotal roles of SLFN5 in COVID-19
pathogenesis by incorporating disease-associated loci,
chromatin accessibility, and transcription factor binding
affinities, aligning with the established functions of SLFN5
in restricting virus replication during viral infection. Our
study provides a paradigm to decipher genetic underpinnings
of complex traits by integrating single-cell eQTLs with
multi-omics data from patients and public databases.},
keywords = {Humans / Quantitative Trait Loci: genetics / Single-Cell
Analysis: methods / COVID-19: immunology / COVID-19:
genetics / COVID-19: virology / SARS-CoV-2: immunology /
Transcriptome / Male / Female / Gene Regulatory Networks /
Monocytes: immunology / Monocytes: metabolism / Immune
System Diseases: genetics / Immune System Diseases:
immunology / Adult / Immunity: genetics / Genetic
Predisposition to Disease},
cin = {B260},
ddc = {500},
cid = {I:(DE-He78)B260-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40759647},
doi = {10.1038/s41467-025-61192-4},
url = {https://inrepo02.dkfz.de/record/303377},
}