Given prior reports21,30, we evaluated whether our sQTLs from the aging brain were enriched for Alzheimer’s disease susceptibility variants (Figs. 3e and 3f). We also assessed enrichment of Alzheimer’s disease SNPs (GWAS P < 1 × 10−5) in splicing, methylation or expression QTLs from DLFPC29, monocytes15,31, neutrophils31 and T-cells15,31. We found that DLFPC sQTLs are more likely to be enriched for Alzheimer’s disease GWAS SNPs, followed by sQTL and eQTL from monocytes (Fig. 3f). These findings highlight (1) the important role of RNA splicing on variation in Alzheimer’s disease susceptibility, (2) the prominent role of myeloid cells in Alzheimer’s disease susceptibility15 but also (3) the fact that a number of Alzheimer’s disease variants have mechanisms that may be mediated through non-myeloid effects.
