Fig. 3: Colocalizing e/sQTLs in GTEx tissues and retina with top POAG GWAS loci. | Nature Communications

Fig. 3: Colocalizing e/sQTLs in GTEx tissues and retina with top POAG GWAS loci.

From: Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma

Fig. 3

Genes with at least one significant colocalization result are shown for e/sQTLs tested across 49 GTEx tissues and peripheral retina for the top 21 POAG cross-ancestry GWAS loci. GWAS loci were ordered by absolute value of their effect size. Within each locus, genes were ordered based on their chromosome position. Bubble size is proportional to the maximum colocalization posterior probability of all e/sVariants tested for the given gene, QTL type and tissue combination. Points are color-coded by direction of effect (blue if increased expression or splicing increases POAG risk or vice versa; red if increased expression or splicing decreases POAG risk or vice versa). Shape of points indicates colocalization method used: circle (eCAVIAR), triangle (enloc), and square (tested in both methods; results shown for method with maximum posterior probability). Grey or black border denotes variant-gene-tissue-QTL combination that passed quality control (QC) filtering (Methods) and a colocalization posterior probability cutoff above 0.01/0.1 (CLPP/RCP) or 0.5 (higher confidence), respectively. White or black asterisk in the square indicates whether the second method tested passed a posterior probability cutoff 0.01/0.1 (CLPP/RCP) or 0.5, respectively.

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