Post-GWAS era in genetics of schizophrenia

Abstract

Genome-wide association studies (GWASs) discovered multiple genetic variants associated with schizophrenia. Te next step (post-GWAS analysis) is aimed at identifying the causal genetic variants and biological mechanisms underlying the associations with disease risk. Te following strategies are considered: the study of transcriptional regulation in neuronal human cells and the use of epigenomic information for searching for regulatory elements involved in the pathogenesis of schizophrenia. Te frst strategy includes identifcation of neuronal enhancers, mapping of potential target genes and functional confrmation of enhancer-promoter interactions. Te second approach is focused on the identifcation of transcriptional factors, which appear to be master regulators of expression.

Keywords

• schizophrenia, gwas, causal variants, enhancer, expression, master-regulator