in the ADGC dataset. Further, the cis-eQTL association between rs1057233 and SPI1 expression remained significant after conditioning for either of these SNPs, whereas conditioning for rs1057233 abolished their cis-eQTL associations with SPI1 (Supplementary Table 9). Thus, rs1057233 and its tagging SNPs likely represent the underlying disease locus and may modulate AD risk through variation in SPI1 expression. Interestingly, rs1057233 was previously found to be associated with systemic lupus erythematosus33, body mass index40 and proinsulin levels41 and may contribute to the connection between AD, immune cell dysfunction, obesity and diabetes.
