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  • Palmer, Duncan S.Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, MA, Boston, United States; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, MA, Cambridge, United States (författare)

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

  • Artikel/kapitelEngelska2022

Förlag, utgivningsår, omfång ...

  • 2022-04-11
  • Nature Publishing Group,2022
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:umu-193973
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-193973URI
  • https://doi.org/10.1038/s41588-022-01034-xDOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:149277892URI
  • https://gup.ub.gu.se/publication/316048URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

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Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • 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 × 10−9). 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.

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Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Howrigan, Daniel P.Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, MA, Boston, United States; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, MA, Cambridge, United States (författare)
  • Chapman, Sinéad B.Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, MA, Cambridge, United States (författare)
  • Adolfsson, RolfUmeå universitet,Psykiatri(Swepub:umu)road0001 (författare)
  • Bass, NickDivision of Psychiatry, University College London, London, United Kingdom (författare)
  • Blackwood, DouglasDivision of Psychiatry, University of Edinburgh, Edinburgh, United Kingdom (författare)
  • Boks, Marco P. M.Department of Psychiatry, Brain Center UMC Utrecht, Utrecht, Netherlands (författare)
  • Chen, Chia-YenAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, MA, Boston, United States; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, MA, Cambridge, United States; Biogen, MA, Cambridge, United States (författare)
  • Churchhouse, ClaireAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, MA, Boston, United States; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, MA, Cambridge, United States; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, MA, Cambridge, United States (författare)
  • Corvin, Aiden P.Trinity College Dublin, Dublin, Ireland (författare)
  • Craddock, NicholasMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom (författare)
  • Curtis, DavidUCL Genetics Institute, University College London, London, United Kingdom; Centre for Psychiatry, Queen Mary University of London, London, United Kingdom (författare)
  • Di Florio, AriannaDivision of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom (författare)
  • Dickerson, FaithSheppard Pratt, MD, Baltimore, United States (författare)
  • Freimer, Nelson B.Department of Psychiatry and Biobehavioral Science, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, CA, Los Angeles, United States; Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, CA, Los Angeles, United States (författare)
  • Goes, Fernando S.Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, MD, Baltimore, United States (författare)
  • Jia, XiaomingWeill Institute for Neurosciences, University of California, San Francisco, CA, San Francisco, United States (författare)
  • Jones, IanMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom; National Centre for Mental Health, Division of Psychiatry and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom (författare)
  • Jones, LisaDepartment of Psychological Medicine, University of Worcester, Worcester, United Kingdom (författare)
  • Jonsson, Lina,1982Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Pharmacology,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry(Swepub:gu)xjliny (författare)
  • Kahn, Rene S.Division of Psychiatry, Icahn School of Medicine at Mount Sinai, NY, New York, United States (författare)
  • Landén, MikaelKarolinska Institutet (författare)
  • Locke, Adam E.Division of Genomics & Bioinformatics and McDonnell Genome Institute, Washington University School of Medicine, MO, St. Louis, United States (författare)
  • McIntosh, Andrew M.Division of Psychiatry, University of Edinburgh, Edinburgh, United Kingdom (författare)
  • McQuillin, AndrewDivision of Psychiatry, University College London, London, United Kingdom (författare)
  • Morris, Derek W.Centre for Neuroimaging, Cognition and Genomics, Discipline of Biochemistry, National University of Ireland Galway, Galway, Ireland (författare)
  • O’Donovan, Michael C.MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom (författare)
  • Ophoff, Roel A.Department of Psychiatry and Biobehavioral Science, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, CA, Los Angeles, United States; Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, CA, Los Angeles, United States; Department of Psychiatry, Erasmus Medical Center, Erasmus University, Rotterdam, Netherlands (författare)
  • Owen, Michael J.MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom (författare)
  • Pedersen, Nancy L.Karolinska Institutet (författare)
  • Posthuma, DanielleDepartment of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU Amsterdam, Amsterdam, Netherlands (författare)
  • Reif, AndreasDepartment of Psychiatry, Psychosomatic Medicine and Psychiatry, University Hospital Frankfurt - Goethe University, Frankfurt, Germany (författare)
  • Risch, NeilInstitute for Human Genetics, University of California, San Francisco, CA, San Francisco, United States; Division of Research, Kaiser Permanente Northern California, CA, Oakland, United States (författare)
  • Schaefer, CatherineDivision of Research, Kaiser Permanente Northern California, CA, Oakland, United States (författare)
  • Scott, LauraDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, MI, Ann Arbor, United States (författare)
  • Singh, TarjinderAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, MA, Boston, United States; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, MA, Cambridge, United States (författare)
  • Smoller, Jordan W.Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, MA, Boston, United States; Department of Psychiatry, Harvard Medical School, MA, Boston, United States (författare)
  • Solomonson, MatthewProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, MA, Cambridge, United States (författare)
  • Clair, David St.Institute for Medical Sciences, University of Aberdeen, Aberdeen, United Kingdom (författare)
  • Stahl, Eli A.Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, NY, New York, United States (författare)
  • Vreeker, AnnabelDepartment of Child and Adolescent Psychiatry/Psychology, Erasmus MC Sophia Children Hospital, Erasmus University, Rotterdam, Netherlands (författare)
  • Walters, James T. R.MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom (författare)
  • Wang, WeiqingDivision of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, NY, New York, United States (författare)
  • Watts, Nicholas A.Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, MA, Boston, United States; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, MA, Cambridge, United States (författare)
  • Yolken, RobertStanley Division of Developmental Neurovirology, Johns Hopkins University, MD, Baltimore, United States (författare)
  • Zandi, Peter P.Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, MD, Baltimore, United States (författare)
  • Neale, Benjamin M.Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, MA, Boston, United States; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, MA, Cambridge, United States; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, MA, Cambridge, United States (författare)
  • Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, MA, Boston, United States; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, MA, Cambridge, United StatesStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, MA, Cambridge, United States (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Nature Genetics: Nature Publishing Group54:5, s. 541-5471061-40361546-1718

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