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

Nature Genetics, ISSN: 1546-1718, Vol: 54, Issue: 5, Page: 541-547
2022
  • 88
    Citations
  • 0
    Usage
  • 175
    Captures
  • 70
    Mentions
  • 1
    Social Media
Metric Options:   Counts1 Year3 Year

Metrics Details

  • Citations
    88
  • Captures
    175
  • Mentions
    70
    • News Mentions
      68
      • 68
    • Blog Mentions
      2
      • 2
  • Social Media
    1
    • Shares, Likes & Comments
      1
      • Facebook
        1

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

According to articles speculating, "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

Most Recent News

Bipolar disorder: What it is, symptoms and treatments

More than 10 million people in the United States are living with bipolar disorder, according to the National Alliance on Mental Illness (NAMI). It’s characterized

Article Description

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 schizophrenia exome meta-analysis (SCHEMA; 24,248 cases and 97,322 controls) and among binding targets of CHD8. Genes implicated from genome-wide association studies (GWASs) of BD, however, are not significantly enriched for ultra-rare PTVs. Combining gene-level results with SCHEMA, AKAP11 emerges as a definitive risk gene (odds ratio (OR) = 7.06, P = 2.83 × 10). At the protein level, AKAP-11 interacts with GSK3B, the hypothesized target of lithium, a primary treatment for BD. Our results lend support to BD’s polygenicity, demonstrating a role for rare coding variation as a significant risk factor in BD etiology.

Bibliographic Details

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

Springer Science and Business Media LLC

Biochemistry, Genetics and Molecular Biology

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