<i>Trans</i>-eQTLs colocalized in disease or trait-associated GWAS loci.

Abstract

(A) Significant trans-eQTLs in FF data (FDR trans-eSNP on Y-axis and trans-eQTL components on X-axis. The red colored boxes reflect the effect size for the trans-eQTLs while the horizontal colored header reflects the condition activity scores. Trans-eQTLs that are in Alzheimer’s or Parkinson’s disease-associated loci (right panel). Alzheimer’s disease includes GWAS susceptibility loci from Alzheimer’s related traits including the age of onset, age-related cognitive decline, and APOE ε4 carriers. (B) Colocalization of trans-eQTLs at Parkinson’s disease susceptibility locus CTSB (left panel) and Alzheimer’s disease-associated loci MS4A4A (middle panel) and CLU (right panel). The x-axis in each panel shows the physical position on the chromosome (Mb). The y-axis shows the -log10(P) association p-values for Parkinson’s disease [23–24] (left panel) and Alzheimer’s disease GWAS [20–22] (middle and right panels). Listed on top are ‘coloc’ posterior probability for hypothesis 3 (PP.H3) and 4 (PP.H4). PP.H3: Association with eQTL and GWAS, two independent causal SNPs. PP.H4: Association with eQTL and GWAS, one shared SNP. (C) Transcription factors whose binding sites occurrence is enriched in the target set of genes within each sparse component compared to the expected occurrence estimated from a background set.</p