2020 Forstner Andreas 0114
© Andreas Stein, Institut für Humangenetik, Universitätsklinikum Bonn

Talk by Jun-Prof. Dr. Andreas Forstner, Universität Bonn

Abstract
Bipolar disorder (BD) is a common mood disorder with an estimated heritability of 60-85%. Genomic analyses have provided important insights into the molecular factors and mechanisms underlying BD. A recent genome-wide association study meta-analysis comprised over 158,000 patients with BD and 2.7 million controls, and identified 298 genome-wide significant loci (O’Connell et al., medRxiv, 2023). At the level of rare variants, Palmer and colleagues (Nat Genet, 2022) conducted exome sequencing of 13,933 patients with BD and 14,422 controls. In this study, no gene with an exome-wide significant association was identified. However, the authors found a significant enrichment of ultra-rare protein-truncating variants in genes that have been implicated in a recent exome sequencing study of schizophrenia.
The findings of the genomic analyses could be important for the future treatment of BD, as the identified factors and mechanisms represent potential targets for new preventive, diagnostic and therapeutic approaches.