T cells), but its expression is only associated with brain-specific eQTL SNPs (Figure 2D). NLRP1 is a member of the inflammasome complex that is implicated in inflammatory response in both immune cells (in particular myeloid cells) and in brain29. Interestingly, a few small-scale studies also linked polymorphisms in this gene with amyloid-beta secretion and Alzheimer’s disease (AD)30. In addition to the 2,416 eQTLs that are testable in both brain and blood, we identified 809 eQTL target genes from our brain eQTL analysis that were absent from the DGN blood eQTL analysis since these genes were not expressed in blood. As expected, this set of 809 brain-specific eQTL genes are enriched for brain-relevant functions (GSEA enrichment analysis, FDR<0.05, two-tailed) such as “Neuronal System”, “Potassium Channel Components”, and “Neurotransmitter Receptor Binding”.
