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Chunk #20 — Results — Identification of brain cisSNPs among PSP GWAS loci

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Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.
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The recent PSP GWAS by Hoglinger et al. [27] included eQTL analysis for the significant loci using brain expression levels from 387 subjects without clinical neurologic diseases. In addition to associations between MAPT locus cisSNPs with brain MAPT and LRRC37A4 levels, they also detected signals for the nearby ARL17A and PLEKHM1 genes, neither of which were detectable in our eGWAS. They also identified cisSNP associations with brain MOBP levels but even stronger influence on the nearby SLC25A38 levels. We did not identify significant cisSNP/SLC25A38 brain expression associations. Although some of the significant probes for MOBP and MAPT harbor variants within their probe sequence, which may potentially confound associations with expression levels, these genes had other significant probes without any sequence variants (Text S1).