and lower NUP160 expression in macrophages (P=5.35×10−22). Each of these genes lies within the SPI1/CELF1 locus, suggesting complex regulation of gene expression in this region. Within the MS4A locus, which contains many gene family members, the minor allele (C) of rs7930318 was consistently associated with lower expression of MS4A4A in monocytes (P=8.20×10−28) and MS4A6A in monocytes (P=4.90×10−23) and macrophages (P=1.25×10−9, Fig. 1b). Among the novel AAOS-associated loci, rs5750677 was significantly associated with lower expression of SUN2 in both monocytes (P=3.66×10−58) and macrophages (P=3.15×10−36), rs10919252 was associated with lower expression of SELL in monocytes (P=7.33×10−35), and rs1625716 was associated with lower expression of CISD1 in macrophages (P=5.98×10−23, Table 3).
