Article

An autoimmune disease risk variant has a <i>trans</i> master regulatory effect mediated by IRF1 under immune stimulation

2020-02-24

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 on IRF1 is acti...

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Literature Corpus work: 34000d4c-01b6-5b5d-a731-14e00570de8f
DOI: 10.1101/2020.02.21.959734

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