We used ASE to assess cis-regulatory variation of ZNF804A expression, and to what extent the SZ risk SNP rs1344706 accounts for ASE, in the DLPFC of postmortem human brains. The DLPFC was chosen since this brain region has been consistently implicated in the pathogenesis of SZ. Moreover, functional imaging genetic studies have shown an association between rs1344706 and altered connectivity of DLPFC with other cortical regions (Esslinger et al., 2009; Paulus et al., 2013; Rasetti et al., 2011). We observed significant allelic expression imbalance of ZNF804A, indicating heterozygous cis effects on ZNF804A expression in the DLPFC. In contrast with previously published results (Hill and Bray, 2012; Williams et al., 2011), genotype at rs1344706 was found to have a significant effect on ZNF804A allelic expression in adults, with the SZ risk allele associated with increased ZNF804A allelic expression. Our data provide evidence for a possible functional role of the rs1344706 SNP, thus suggesting that this variant may be the cis-regulatory element directly responsible for ZNF804A allelic expression imbalance. Our results fit reasonably well with the previously published study showing rs1344706 as
