Fig. 4: Effects of individual eQTLs for MX1, on MX1 expression level (x-axis) and on SLE risk (y-axis). | Genes & Immunity

Fig. 4: Effects of individual eQTLs for MX1, on MX1 expression level (x-axis) and on SLE risk (y-axis).

From: Discovery of core genes for systemic lupus erythematosus via genome-wide aggregated trans-effects analysis

Fig. 4

Blue points show effects of trans-eQTLs, labeled by nearby genes. Red point shows effects of the cis-eQTL. The size of the marker is inversely proportional to the standard error of the Wald ratio estimate for the effect of MX1 expression level on SLE based on each individual eQTL. The slope of the line is the causal effect estimate of MX1 expression (exposure) on SLE risk (outcome) using all trans-eQTLs as instrumental variables. The red shaded area contains all possible lines passing through the origin whose slope is within one standard error of the estimate. Estimation is performed by marginalizing over the posterior distribution of (unobserved) pleiotropic effects of the trans-eQTLs. IFIH1, IKZF1 and WDFY4 are known GWAS hits for SLE. Rare variants in IFIH1, IKZF1 and RIGI (also known as DDX58) are known to cause monogenic forms of lupus.

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