An autoimmune disease risk variant: A trans master regulatory effect mediated by IRF1 under immune stimulation?

doi:10.1371/journal.pgen.1009684

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Article

An autoimmune disease risk variant: A trans master regulatory effect mediated by IRF1 under immune stimulation?

PLoS genetics - 1 Jul 2021

Brandt Margot, Kim-Hellmuth Sarah, Ziosi Marcello, Gokden Alper, Wolman Aaron, Lam Nora, Recinos Yocelyn, Daniloski Zharko, Morris John A, Hornung Veit, Schumacher Johannes, Lappalainen Tuuli

Abstract excerpt

Functional mechanisms remain unknown for most genetic loci associated to complex human traits and diseases. In this study, we first mapped trans-eQTLs in a data set of primary monocytes stimulated with LPS, and discovered that a risk variant for autoimmune disease, rs17622517 in an intron of C5ORF56, affects the expression of the transcription factor IRF1 20 kb away. The cis-regulatory effect specific to IRF1 is...

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PMID: 34314424
DOI: 10.1371/journal.pgen.1009684
PMCID: PMC8345867

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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