Figure 5  Identification and Validation of a trans pQTL for DIDO1
(A–C) Protein discovery (A), replication cohort (B), and transcriptome sequencing expression (C) measurements (y axis) for each sample plotted by SNP genotype for a replicated trans pQTL for DIDO1.
(D) Regional association plot of the genic region associated with DIDO1. The –log10(p value) for SNVs in this region (left y axis) and recombination rate (right y axis) are depicted with respect to genomic position (x axis) using LocusZoom.45 SNVs in LD with the most associated SNP are plotted according to the color scale.
(E) KARS protein levels versus genotype in the replication cohort of 17 YRI LCLs.
(F) DIDO1 protein, but not mRNA, expression levels were significantly reduced 24 hr after siRNA knockdown of KARS. Error bars indicate the SEM of three technical replicates for each condition.