Figure 3.
Cell type- and region-specificity of AMD risk genes. (A) Heatmap showing expression levels of AMD risk genes by cell type. Color in the heatmap represents expression intensity with red signifying higher expression in units of z-score. Left panel: AMD associated genes identified by loss- or gain-of-function mutations or by GWAS3. Right panel: target genes based on TWAS analysis listed34.Three AMD risk genes in the complement pathway, CFH, C3 and CFI, were highlighted. (B) boxplot shows expression level of CFH, C3 and CFI across cell types and retina regions. The pie chart show the percentage of cells expressing the gene in a particular region and cell type.