To assess how genetic risk for schizophrenia relates to brain function in the DLPFC at the molecular level, we tested for overlap between genes found in genetic loci previously associated with SCZ and the genes exhibiting expression differences between SCZ cases and controls in this study. To this end, we curated genetic associations with schizophrenia from the literature, including those derived from: a) 108 loci discovered in a common variant genome-wide association (GWAS) meta-analysis study of 36,989 SCZ cases and 113,075 controls3, b) a literature consensus of 12 copy number variant (CNV) regions collated from numerous rare CNV studies88, c) 756 nonsynonymous (NS; mostly missense, but also including 114 loss-of-function [LoF; nonsense, essential splice site, or frameshifting indels]) de novo mutations discovered from exome-sequencing across 1,024 schizophrenia trios [probands and their parents]7,89–92 and uniformly re-annotated using PLINK/Seq (http://atgu.mgh.harvard.edu/plinkseq), and d) rare variants in an exome-sequencing study of 2,536 SCZ cases and 2,543 matched controls from Sweden5.
