Disease-associated cis-eQTLs specific to cell subpopulations
SNP-by-disease interactions were tested for all SNPs within one MBP of each gene for each cell subpopulation.
(A) p values of significant eQTL (x axis) in RGC subpopulations RGC1, RGC2, and RGC3 were plotted against the p values of SNP-by-disease interactions (y axis). The dotted red line represents the p value threshold of 0.05 for the SNP-by-disease interactions. Points and labels in red represent interactions that are significant in only the RGC subpopulations.
(B) Expression profile of CDKN2B, based on the rs28368130 genotype for POAG cases and controls. Expression is displayed in Z scores.
(C) Boxplots displaying the Z scores of the following genes: IGFBPL1, SAR1A, and VAMP2 were grouped by disease and genotype. Regression lines for each condition represent the relationship between genotype and expression. Table S8 contains full details of significant loci.