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Chunk #13 — Results — Conditional and SMR analysis of the SPI1/CELF1 locus

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A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.
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of a mouse model of AD19. It should be noted that rs1057233 is a functional variant that has been shown to directly affect SPI1 expression by changing the target sequence and binding of miR-56933. Rs1057233 and rs10838698 remained significantly associated with SPI1 expression when adjusting for either of the other two SNPs in both monocytes and macrophages (P < 8.33×10−3). However, conditioning for either of these two SNPs abolished the associations of rs1377416 and rs10838725 with SPI1 expression (Supplementary Table 9). Thus, the functional variant(s) mediating the effect on SPI1 expression and AD risk likely reside(s) in the LD block that includes rs1057233 and rs10838698 but not rs10838725 and rs1377416 (Supplementary Fig. 5).