Multiple disease-associated GWAS SNPs have been identified as cis-eQTLs of disease genes in disease-relevant tissues/cell types23. We investigated cis-eQTL effects of the 22 AAOS-associated SNPs and their tagging SNPs (R2 ≥ 0.8, listed in Supplementary Table 3) in the BRAINEAC dataset. We identified 4 significant associations (Bonferroni-corrected threshold: P=0.05/292,000 probes = 1.7×10−7): rs1057233 was associated with MTCH2 expression in the cerebellum (P=1.20×10−9); rs7445192 was associated with SRA1 expression averaged across brain regions (P=7.0×10−9, 1.6×10−7 for two probes respectively), and rs2093761 was associated with CR1/CR1L expression in white matter (P=1.30×10−7, Supplementary Table 4). Further analysis using the GTEx dataset24 identified 50 unique, associated snp-gene pairs across 44 tissues, including 11 snp-gene pairs in various brain regions (Supplementary Table 5).
