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Chunk #10 — Characterization of Associated Loci

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Biological insights from 108 schizophrenia-associated genetic loci.
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To try to identify eQTLs that could explain associations with schizophrenia, we merged the credible causal set of SNPs defined above with eQTLs from a meta-analysis of human brain cortex eQTL studies (N=550) and an eQTL study of peripheral venous blood (N=3754)40 (Supplementary Text). Multiple schizophrenia loci contained at least one eQTL for a gene within 1 Mb of the locus (Supplementary Table 4). However, in only 12 instances was the eQTL plausibly causal (two in brain, and nine in peripheral blood, one in both). This low proportion suggests that if most risk variants are regulatory, available eQTL catalogs do not yet provide power, cellular specificity, or developmental diversity to provide clear mechanistic hypotheses for follow-up experiments.