SMR analysis with mQTLs from fetal brain and eQTLs from adult brain prioritized SPI1 and NUP160 respectively at 11p11.2 for association with DPW and AUD (Fig. 3). Both SPI1 and NUP160 are primarily expressed in myeloid cells. The predicted causal SPI1 mQTL (rs56030824) and NUP160 eQTL (rs10838753) were in fact in low LD (R2 = 0.31) with each other. rs56030824 (mQTL) showed a stronger association with both AUD (P = 8.91 × 10−6) and DPW (4.90 × 10−12) than rs10838753 (eQTL) (DPW P = 1.28 × 10−10; AUD p = 4.85 × 10−5). Adding rs56030824 as a covariate in conditional analyses had a larger effect on the association between rs10838753 and AUD (Porig = 4.85 × 10−5; Pcond = 0.09) than with DPW (Porig = 1.28 × 10−10; Pcond = 8.1 × 10−3). rs56030824 remained significantly associated with both AUD (Porig = 8.91 × 10−6; Pcond = 2.0 × 10−2) and DPW (Porig = 4.90 × 10−12; Pcond = 7.0 × 10−4) even after adding rs10838753 as a covariate. Rs56030824 overlapped the promoter marks (H3K27ac, H3K4me3) for SPI1 specifically in
