A hallmark of polygenic inheritance is that individual SNPs confer small effects on risk. For some risk SNPs, perhaps the majority, their impact could be mediated through effects on gene expression. Indeed, GWAS SNPs associated with SCZ risk occur more often than expected by chance in cis-regulatory functional genomic elements, such as enhancers or eQTL SNPs3,21–24. Yet, GWAS loci typically contain many genes, and SNPs therein are often highly correlated via linkage disequilibrium, so that assigning a biological role for a particular risk SNP has been difficult. Here, we leverage CMC-derived eQTL to relate SCZ risk variants to expression of specific genes.
