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Chunk #39 — Expression QTLs and complex disease associations

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Genetic effects on gene expression across human tissues.
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another cis-eGene in 9q22, TRMO, for both trans-eGenes43 (posterior probability >0.99). Mendelian randomization analysis of the PEER-corrected data supported the idea that TRMO regulates TMEM253 (P ≤1.3×10−9) and ARFGEF3 (P ≤2.1×10−11) based on trans-eVariant rs1867277. By contrast, FOXE1 had weak Mendelian randomization support in the PEER-corrected data. Despite the ambiguity of cis-mediation, the locus is one of the strongest trans-eQTL signals in GTEx. We further replicated both the broad regulatory effect and specific target genes of this locus in 498 primary thyroid cancer RNA-seq samples from The Cancer Genome Atlas50 (TCGA; Fig. 6b, Supplementary Information 18).