Fig. 7: Cell type enrichment of e/sQTL-mapped genes to IOP GWAS loci in the anterior segment of the eye.

a Cell type specificity fold-enrichment (x-axis) in the anterior segment cell types ranked in descending order for e/sQTL-mapped genes to IOP GWAS loci (N = 37). Points: fold-enrichment estimates from ECLIPSER. Error bars: 95% confidence intervals. Red: tissue-wide significant (Benjamini-Hochberg (BH) FDR < 0.1). Grey: nominal significant (P < 0.05). Blue: non-significant (P ≥ 0.05). The exact p-values (one-sided) for the fold-enrichment of all cell types and GWAS are provided in Supplementary Data 35. b Heatmap of fraction of genes that overlap between the e/sGenes driving the enrichment signal for top ranked cell types (P < 0.05) in the anterior segment for IOP GWAS loci. Numbers refer to fraction of e/sGenes driving the cell type enrichment on each row that overlaps with the genes driving the cell type enrichment on the corresponding column. Hierarchical clustering was performed on both rows and columns using the Euclidean distance between fractions. Red asterisks: tissue-wide cell type enrichment BH FDR < 0.1 from ECLIPSER. c Differential gene expression (log₂(Fold-change), y axis) in the most strongly enriched cell type in the anterior segment compared to all other cell types is shown for the set of genes (x axis) driving the enrichment signal of IOP GWAS loci in pericytes (cluster 2). The horizontal dashed line represents log₂(Fold-change) of 0.375 (FC = 1.3) and FDR < 0.1 used as the cell type-specificity enrichment cutoff. Blue asterisks denote genes in IOP loci not associated with POAG risk. d Bubble map displaying the expression of e/sGenes driving the IOP enrichment in pericytes (red box) across all cell types in the anterior segment. The colorbar represents gene expression z-scores computed by comparing each gene’s average expression in a given cell type to its average expression across all cell types divided by the standard deviation of all cell type expression averages. Bubble size is proportional to the percentage of cells expressing the given gene (log(TPK + 1) > 1). Cell type abbreviations are described in Supplementary Data 35.