BD’s Polygenic Genetic Architecture

A genome-wide study of bipolar disorder (BD) revealed an extensive polygenic genetic architecture of the disease, implicate brain calcium channels and neurotransmitter function in BD etiology, and confirmed that BD is part of a spectrum of highly correlated psychiatric and mood disorders. The study included 20,352 cases and 31,358 controls of European descent, with follow-up analysis of 822 variants in an additional 9,412 cases and 137,760 controls. In the combined analysis, 30 loci were genome-wide significant, including 20 newly identified loci. The significant loci contain genes encoding ion channels, neurotransmitter transporters and synaptic components. Pathway analysis revealed nine significantly enriched gene sets, including regulation of insulin secretion and endocannabinoid signaling. BD is a multifactorial disorder characterized by recurrent episodes of mania and depression that affect thought, perception, emotion and social behavior, and has two main clinical subtypes, BD1 is strongly genetically correlated with schizophrenia, driven by psychosis, whereas BD2 is more strongly correlated with major depressive disorder. Source: https://www.nature.com/