Fig. 4: Functional validation of the MTAG-identified PSC-specific candidate genes. | Nature Communications

Fig. 4: Functional validation of the MTAG-identified PSC-specific candidate genes.

From: Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis

Fig. 4

a, c, e eQTL signals in GTEx v8 small intestine terminal ileum (n = 174) for MANBA (a), liver (n = 208) for IRF5 (c), and thyroid (n = 574) for NKX2-3 (e) colocalize with those of the MTAG-identified PSC-specific GWAS by coloc (posterior probability for the same causal variant shared between MTAG-identified GWAS and a tissue-specific eQTL (PP4) = 0.918 for rs228614, PP4 = 1.00 for rs3757387, and PP4 = 0.995 for rs7911680), respectively. Pearson correlation (r) is shown between the Z-score of eQTL (y-axis) and MTAG_PSC (x-axis). Variants are color-coded based on the LD r2 (1000 Genomes phase 3, EUR) with the candidate variants (red dot in a diamond shape). Variants with imputation quality scores >0.6 were plotted in this region. b, d, f Regional association plots of eQTL and MTAG_PSC within ±100kb of rs228614 (b), rs3757387 (d), and rs7911680 (f) are displayed.

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