Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia.

ABSTRACT: We sought to obtain novel insights into schizophrenia pathogenesis by exploiting the association between the disorder and chromosomal copy number (CNV) burden. We combined data from 5,745 cases and 10,675 controls with other published datasets containing genome-wide CNV data. In this much-enlarged sample of 11,355 cases and 16,416 controls, we show for the first time that case CNVs are enriched for genes involved in GABAergic neurotransmission. Consistent with non-genetic reports of GABAergic deficits in schizophrenia, our findings now show disrupted GABAergic signaling is of direct causal relevance, rather than a secondary effect or due to confounding. Additionally, we independently replicate and greatly extend previous findings of CNV enrichment among genes involved in glutamatergic sign

SUBMITTER: Pocklington AJ 

PROVIDER: S-EPMC4460187 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature