Article
Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia.
Nature genetics - 1 May 2022
Palmer Duncan S, Howrigan Daniel P, Chapman Sinéad B, Adolfsson Rolf, Bass Nick, Blackwood Douglas, Boks Marco P M, Chen Chia-Yen, Churchhouse Claire, Corvin Aiden P, Craddock Nicholas, Curtis David, Di Florio Arianna, Dickerson Faith, Freimer Nelson B, Goes Fernando S, Jia Xiaoming, Jones Ian, Jones Lisa, Jonsson Lina, Kahn Rene S, Landén Mikael, Locke Adam E, McIntosh Andrew M, McQuillin Andrew, Morris Derek W, O'Donovan Michael C, Ophoff Roel A, Owen Michael J, Pedersen Nancy L, Posthuma Danielle, Reif Andreas, Risch Neil, Schaefer Catherine, Scott Laura, Singh Tarjinder, Smoller Jordan W, Solomonson Matthew, Clair David St, Stahl Eli A, Vreeker Annabel, Walters James T R, Wang Weiqing, Watts Nicholas A, Yolken Robert, Zandi Peter P, Neale Benjamin M
Abstract excerpt
We report results from the Bipolar Exome (BipEx) collaboration analysis of whole-exome sequencing of 13,933 patients with bipolar disorder (BD) matched with 14,422 controls. We find an excess of ultra-rare protein-truncating variants (PTVs) in patients with BD among genes under strong evolutionary constraint in both major BD subtypes. We find enrichment of ultra-rare PTVs within genes implicated from a recent...
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