Wednesday, April 27, 2022

Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia

A model for the regulation of the Hippo pathway by Vgll3 and Akap11. By...  | Download Scientific Diagram

According to the article, results from the bipolar exome (BipEX) collaboration analysis of whole-exome sequencing of 13,933 individuals diagnosed with bipolar disorder (BD), matched with 14,422 controls. We find an excess of ultra-rare protein-truncating variants (PTVs) in BD patients among genes under strong evolutionary constraint, a signal evident in both major BD subtypes, bipolar 1 disorder (BD1) and bipolar 2 disorder (BD2). We also find an excess of ultra-rare PTVs within genes implicated in a recent schizophrenia exome meta-analysis (SCHEMA: 24,248 SCZ cases and 97,322 controls) and among binding targets of CHD8. Genes implicated from GWAS of BD, however, are not significantly enriched for ultra-rare PTVs. Combining BD Gene level results with SCHEMA, AKAP 11 emerges as a definite risk gene.  

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