Fig. 2: SLE GWAS association at the USP18 locus is a trans-eQTL for interferon response genes. | Nature Communications

Fig. 2: SLE GWAS association at the USP18 locus is a trans-eQTL for interferon response genes.

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

Fig. 2

A Regional association plot for the SLE GWAS with POEMColoc imputed summary statistics and regional association plot for the lead trans-eQTL gene (HERC5) at the USP18 locus. The trans-eQTL lead and GWAS lead variants (rs4819670) are identical and in high LD with a missense variant (rs3180408) in the USP18 gene. The points represent two-sided p-values from inverse-variance weighted meta-analysis. The original regional association plot for the SLE GWAS is shown on Supplementary Fig. 4. B Volcano plot of the trans-eQTL target genes. Genes with FDR < 5% are highlighted in red. C USP18 down-regulates type I interferon signalling by restricting the access of Janus-associated kinase 1 (JAK1) to the type I interferon receptor42. Source data are provided as a Source Data file.

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