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Chunk #14 — RESULTS — eQTL signatures at SCZ risk loci point to specific genes

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Gene expression elucidates functional impact of polygenic risk for schizophrenia.
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Repeating the analyses using isoform-level eQTLs (isoQTL) identified nine genes in eight GWAS loci, with all but three genes already identified in the gene-level analysis (Supplementary data file 2). Combining the gene and isoform data, 20 of 108 GWAS loci (19%) had evidence suggesting that mis-regulated gene expression could, in part, explain the genetic association with schizophrenia: 18 cis-QTL loci (cis-eQTL for 33 genes + 2 genes with cis-isoQTL), one locus implicated only by cis-isoQTL (SNX19), and one trans-eQTL association for IMMP1L at a GWAS locus on chr7. We discuss other genes identified by Sherlock in the Supplement.