Figure 7. ICV TWAS.

(A) Manhattan plot ofTWAS results from genes and intron ICV associations, highlighting the 7 genes and 8 introns significant at P_bonferroni < 0.05, overlaid with ICV GWAS significant loci. Key depicts significant GWAS loci (gray), prenatal brain TWAS genes (magenta), and introns (purple).

(B) Overlap of TWAS genes from prenatal brain, adult brain from GTEx, and adult brain from CMC.

(C) Overlap of TWAS introns from prenatal brain and adult brain from CMC (Gusev et al., 2018).

(D and F) Illustration of two genomic regions on chromosome 17 (D) and on chromosome 10 (F) harboring at least one prenatal TWAS loci. The y axis shows Ensembl gene ID, LD, TWAS results overlapped with GWAS loci – log₁₀(P); prenatal brain TWAS genes and introns are magenta dots, high-confident adult brain TWAS genes are blue dots, adult brain TWAS introns are green dots, and GWAS SNPs are gray dots) and ICV GWAS loci (yellow line). Ensembl gene names and gene models are colored by significance in datasets; prenatal brain gene and intron associations(magenta), adult brain intron associations(green), high-confident adult brain gene associations(blue). If the gene is implicated by more than one dataset there is an asterisk colored by the datasets. The ICV GWAS locus is shown in yellow with the LD block in purple defined by r² > 0.8.

(E and G) Corresponding BrainSpan (BrainSpan, 2013) gene expression trajectories throughout human lifespan of highlighted TWAS genes (E corresponds to significant genes from D and G corresponds to significant genes from F).x axis corresponds to developmental periods defined in Kang et al. (2011), where the red line represents period 8, corresponding to birth.

See also Table S4.