Using HaploReg34 to annotate the top AAOS-associated SNP (rs1057233) and its tagging SNPs (R2 >= 0.8, Supplementary Table 3), we identified multiple SNPs (e.g, rs10838699 and rs7928163) in tight LD with rs1057233 that changed the predicted DNA binding motif of SPI1 (PU.1), raising the possibility of altered self-regulation associated with the minor allele. Based on these results, one or more of these or other SNPs in very high LD with rs1057233, could explain the observed associations with SPI1 expression and AD-related phenotypes.
