The SNP tagging the chromosome 17 inversion is a significant cis-eQTL for five genes in blood and is an eQTL in all 14 other tissues (Supplementary Table 24). It alone accounts for 151 out of the 169 significant associations identified in the 14 tissue-specific analyses. Additionally, the SNP is in near-perfect LD (R2 > 0.97) with 11 missense variants (Supplementary Table 23) in three different genes, one of which is MAPT. MAPT, which is also implicated in both the blood and the other tissue-specific analyses, encodes a protein important in the stabilization of microtubules in neurons. Associations have been previously reported between SNPs in MAPT (all of which are in strong LD with our inversion-tagging SNP) and neurodegenerative disorders, including Parkinson’s disease34 and progressive supranuclear palsy35, a rare disease whose symptoms include depression and apathy.
