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Exome sequencing in...
Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia
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- Palmer, Duncan S. (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 States
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- Howrigan, Daniel P. (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 States
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- Chapman, Sinéad B. (författare)
- Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, MA, Cambridge, United States
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visa fler...
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- Adolfsson, Rolf (författare)
- Umeå universitet,Psykiatri
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- Bass, Nick (författare)
- Division of Psychiatry, University College London, London, United Kingdom
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- Blackwood, Douglas (författare)
- Division of Psychiatry, University of Edinburgh, Edinburgh, United Kingdom
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- Boks, Marco P. M. (författare)
- Department of Psychiatry, Brain Center UMC Utrecht, Utrecht, Netherlands
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- Chen, Chia-Yen (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 States; Biogen, MA, Cambridge, United States
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- Churchhouse, Claire (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 States; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, MA, Cambridge, United States
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- Corvin, Aiden P. (författare)
- Trinity College Dublin, Dublin, Ireland
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- Craddock, Nicholas (författare)
- MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom
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- Curtis, David (författare)
- UCL Genetics Institute, University College London, London, United Kingdom; Centre for Psychiatry, Queen Mary University of London, London, United Kingdom
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- Di Florio, Arianna (författare)
- Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom
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- Dickerson, Faith (författare)
- Sheppard Pratt, MD, Baltimore, United States
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- Freimer, Nelson B. (författare)
- 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
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- Goes, Fernando S. (författare)
- Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, MD, Baltimore, United States
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- Jia, Xiaoming (författare)
- Weill Institute for Neurosciences, University of California, San Francisco, CA, San Francisco, United States
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- Jones, Ian (författare)
- MRC 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
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- Jones, Lisa (författare)
- Department of Psychological Medicine, University of Worcester, Worcester, United Kingdom
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- Jonsson, Lina, 1982 (författare)
- Gothenburg 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
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- Kahn, Rene S. (författare)
- Division of Psychiatry, Icahn School of Medicine at Mount Sinai, NY, New York, United States
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- Landén, Mikael (författare)
- Karolinska Institutet
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- Locke, Adam E. (författare)
- Division of Genomics & Bioinformatics and McDonnell Genome Institute, Washington University School of Medicine, MO, St. Louis, United States
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- McIntosh, Andrew M. (författare)
- Division of Psychiatry, University of Edinburgh, Edinburgh, United Kingdom
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- McQuillin, Andrew (författare)
- Division of Psychiatry, University College London, London, United Kingdom
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- Morris, Derek W. (författare)
- Centre for Neuroimaging, Cognition and Genomics, Discipline of Biochemistry, National University of Ireland Galway, Galway, Ireland
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- O’Donovan, Michael C. (författare)
- MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom
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- Ophoff, Roel A. (författare)
- 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
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- Owen, Michael J. (författare)
- MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom
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- Pedersen, Nancy L. (författare)
- Karolinska Institutet
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- Posthuma, Danielle (författare)
- Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU Amsterdam, Amsterdam, Netherlands
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- Reif, Andreas (författare)
- Department of Psychiatry, Psychosomatic Medicine and Psychiatry, University Hospital Frankfurt - Goethe University, Frankfurt, Germany
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- Risch, Neil (författare)
- Institute for Human Genetics, University of California, San Francisco, CA, San Francisco, United States; Division of Research, Kaiser Permanente Northern California, CA, Oakland, United States
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- Schaefer, Catherine (författare)
- Division of Research, Kaiser Permanente Northern California, CA, Oakland, United States
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- Scott, Laura (författare)
- Department of Biostatistics and Center for Statistical Genetics, University of Michigan, MI, Ann Arbor, United States
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- Singh, Tarjinder (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 States
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- Smoller, Jordan W. (författare)
- Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, MA, Boston, United States; Department of Psychiatry, Harvard Medical School, MA, Boston, United States
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- Solomonson, Matthew (författare)
- Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, MA, Cambridge, United States
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- Clair, David St. (författare)
- Institute for Medical Sciences, University of Aberdeen, Aberdeen, United Kingdom
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- Stahl, Eli A. (författare)
- Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, NY, New York, United States
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- Vreeker, Annabel (författare)
- Department of Child and Adolescent Psychiatry/Psychology, Erasmus MC Sophia Children Hospital, Erasmus University, Rotterdam, Netherlands
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- Walters, James T. R. (författare)
- MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom
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- Wang, Weiqing (författare)
- Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, NY, New York, United States
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- Watts, Nicholas A. (författare)
- 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
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- Yolken, Robert (författare)
- Stanley Division of Developmental Neurovirology, Johns Hopkins University, MD, Baltimore, United States
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- Zandi, Peter P. (författare)
- Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, MD, Baltimore, United States
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- Neale, Benjamin M. (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 States; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, MA, Cambridge, United States
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(creator_code:org_t)
- 2022-04-11
- 2022
- Engelska.
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 54:5, s. 541-547
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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https://gup.ub.gu.se...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Psykiatri (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Psychiatry (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Nyckelord
- psykiatri
- Psychiatry
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Palmer, Duncan S ...
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Howrigan, Daniel ...
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Chapman, Sinéad ...
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Adolfsson, Rolf
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Bass, Nick
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Blackwood, Dougl ...
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Boks, Marco P. M ...
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Chen, Chia-Yen
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Churchhouse, Cla ...
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Corvin, Aiden P.
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Craddock, Nichol ...
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Curtis, David
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Di Florio, Arian ...
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Dickerson, Faith
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Freimer, Nelson ...
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Goes, Fernando S ...
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Jia, Xiaoming
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Jones, Ian
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Jones, Lisa
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Jonsson, Lina, 1 ...
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Kahn, Rene S.
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Landén, Mikael
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Locke, Adam E.
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McIntosh, Andrew ...
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McQuillin, Andre ...
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Morris, Derek W.
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O’Donovan, Micha ...
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Ophoff, Roel A.
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Owen, Michael J.
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Pedersen, Nancy ...
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Posthuma, Daniel ...
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Reif, Andreas
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Risch, Neil
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Schaefer, Cather ...
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Scott, Laura
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Singh, Tarjinder
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Smoller, Jordan ...
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Solomonson, Matt ...
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Clair, David St.
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Stahl, Eli A.
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Vreeker, Annabel
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Walters, James T ...
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Wang, Weiqing
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Watts, Nicholas ...
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Yolken, Robert
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Zandi, Peter P.
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Neale, Benjamin ...
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