Figure 4. Age Specificity of Brain eQTLs.
(A) Distribution of effect size for prenatal-specific eQTLs versus prenatal eQTLs shared in any GTEx tissue (Wilcoxon rank-sum p < 2.2 × 10−16).
(B) Distribution of pLI scores for prenatal-specific eQTLs versus prenatal eQTLs shared in any GTEx tissue (Wilcoxon rank-sum p = 0.0163).
(C) Effect size correlations (Spearman’s ρ) between significant nominal prenatal eQTLs and corresponding eQTL across tissues grouped by similarity. Tissues from GTEx are denoted as circles, PsychENCODE prefrontal cortex is denoted by a diamond. The size of each point corresponds to the dataset’s sample size.
(D) Venn diagram comparing eGenes discovered in prenatal versus adult cortex from GTEx.
(E) Venn diagram comparing eGenes discovered in prenatal versus adult cortex from PsychENCODE.
(F) Venn diagram comparing sGenes discovered in prenatal versus adult cortex (Takata et al., 2017).
(G) The number of prenatal single cell marker genes containing an eQTL in prenatal-specific eQTLs, GTEx adult brain-specific eQTLs, and those overlapping both datasets. Prenatal, prenatal-specific; adult, adult-specific; both, overlapping and found in both prenatal and adult.
(H) LD score regression enrichments where annotations of prenatal eQTLs and adult eQTLs and sQTLs were added to the baseline annotations. A bold annotation and asterisk indicate significance (PBonferroni < 0.05) for all annotation categories tested, with the proportion of heritability explained in parenthesis and error bars representing the SE.
(I) LD score regression enrichment of the prenatal cortex and GTEx adult cortex annotations with varying window size around the eSNP.
See also Figure S6.