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Freimann, K.* ; Brümmer, A.* ; Warmerdam, R.* ; Rupall, T.S.* ; Hernández-Ledesma, A.L.* ; Chiou, J.* ; Holzinger, E.R.* ; Maranville, J.C.* ; Nakić, N.* ; Ongen, H.* ; Stefanucci, L.* ; Turchin, M.C.* ; Franke, L.* ; Võsa, U.* ; Jones, C.P.* ; Medina-Rivera, A.* ; Trynka, G.* ; Kisand, K.* ; Bergmann, S.* ; PRECISESADS Clinical Consortium (Farzeen, A.) ; PRECISESADS Clinical Consortium (Prokisch, H.) ; PRECISESADS Clinical Consortium (Gieger, C.) ; PRECISESADS Clinical Consortium (Peters, A.) ; PRECISESADS Clinical Consortium (Stumvoll, M.)

Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus.

Nat. Commun. 16:8795 (2025)
Verlagsversion Forschungsdaten DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
Although genome-wide association studies have provided valuable insights into the genetic basis of complex traits and diseases, translating these findings to causal genes and their downstream mechanisms remains challenging. We performed trans expression quantitative trait locus (trans-eQTL) meta-analysis in 3734 lymphoblastoid cell line samples, identifying four robust loci that replicated in an independent multi-ethnic dataset of 682 individuals. The trans-eQTL signal at the ubiquitin specific peptidase 18 (USP18) locus colocalised with a GWAS signal for systemic lupus erythematosus (SLE). USP18 is a known negative regulator of interferon signalling and the SLE risk allele increased the expression of 50 interferon-inducible genes, suggesting that the risk allele impairs USP18's ability to effectively limit the interferon response. Intriguingly, the USP18 trans-eQTL signal would not have been discovered in a meta-analysis of up to 43,301 whole blood samples, reaffirming the importance of capturing context-specific genetic effects for GWAS interpretation.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Sprache englisch
Veröffentlichungsjahr 2025
HGF-Berichtsjahr 2025
ISSN (print) / ISBN 2041-1723
e-ISSN 2041-1723
Zeitschrift Nature Communications
Quellenangaben Band: 16, Heft: 1, Seiten: , Artikelnummer: 8795 Supplement: ,
Verlag Nature Publishing Group
Verlagsort London
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
Institute of Epidemiology (EPI)
Helmholtz Institute for Metabolism, Obesity and Vascular Research (HI-MAG)
POF Topic(s) 30205 - Bioengineering and Digital Health
30202 - Environmental Health
30201 - Metabolic Health
Forschungsfeld(er) Genetics and Epidemiology
Helmholtz Diabetes Center
PSP-Element(e) G-503292-001
G-504091-004
G-504000-010
G-506500-001
G-504091-002
DOI 10.1038/s41467-025-63856-7
PubMed ID 41038828
Erfassungsdatum 2025-10-15
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