Fig. 6: Functional characterization of prioritized AD keratinocyte-linked gene candidates.

1st panel, Keratinocyte subtype differential expression (x-axis) by gene (y-axis). Differential expression values correspond to expression log fold change (FC) between a total of 96,194 keratinocyte and 178,640 non-keratinocyte cells, mean-averaged across body sites (n = 7 sites, Methods), and whiskers represent the standard deviation of the mean. 2nd panel, Differential expression (x-axis) of gene (y-axis) as a function of epidermal raft differentiation. Differential expression values correspond to log expression fold change as a function of differentiation timepoints (n = 7 timepoints, Methods), and whiskers represent the 95% confidence interval of the value. 3rd panel, Differential expression of pathway (x-axis) proxy genes by candidate gene (y-axis). Differential expression values correspond to the standardized mean difference (SMD) of the expression of genes that are proxies of IL-22 and IL-13 pathways between the presence or absence of siRNA targeting corresponding gene candidate. SMD values were derived from across-proxy-genes per-pathway meta-analysis (n = 3 proxies, Methods). Whiskers represent the 95% confidence interval of the value. 4th panel, Keratinocyte eQTL effect size (x-axis) by candidate gene (y-axis) (n  =  50 subjects). Effects are mapped to AD risk alleles of the corresponding GWAS locus lead variants. Whiskers represent the 95% confidence interval of the value. CEBPA effect size is not shown due to insufficient AD risk allele frequency (Methods).