In conclusion, using a powerful within-subjects technique that detects cis-acting influences on gene expression, we have demonstrated an imbalanced allelic expression of ZNF804A in DLPFC. Our ASE assay detected a significant excess of the rs12476147 A allele in heterozygous subjects for the SZ risk SNP rs1344706. Further we confirmed a prior association of the SZ risk SNP rs12476147 in the CVCR isolated population. Although our data do not exclude the possibility of other functional variants in ZNF804A, they provide support for rs1344706 risk allele as the cis-regulatory variant directly responsible for ZNF804A allelic expression imbalance.
