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Chunk #37 — Expression QTLs and complex disease associations

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Genetic effects on gene expression across human tissues.
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Genetic variants associated with complex traits have been suggested to be enriched for trans-eQTLs6,44–47. Accordingly, we performed trans-eQTL mapping, restricting it to variants associated with a complex trait in a GWAS (Extended Data Fig. 12b). In this analysis, across the 44 tissues, we found 29 trans-eQTL associations involving 24 unique variants and 25 unique genes (10% FDR; Fig. 4a), each specific to a single tissue. There were more trans-eVariants at 50% FDR with association in at least one tissue when testing was restricted to trait-associated variants compared with random variants matched by MAF and distance to TSS (Fisher’s exact test, P ≤1.3×10−3).