دورية أكاديمية
Contribution of Rare Copy Number Variants to Bipolar Disorder Risk Is Limited to Schizoaffective Cases.
| العنوان: | Contribution of Rare Copy Number Variants to Bipolar Disorder Risk Is Limited to Schizoaffective Cases. |
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| المؤلفون: | Charney AW; Department of Psychiatry, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Neurosurgery, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Genetics and Genomic Sciences, Icahn Institute of Genomics and Multiscale Biology, New York, New York. Electronic address: alexander.charney@mssm.edu., Stahl EA; Department of Genetics and Genomic Sciences, Icahn Institute of Genomics and Multiscale Biology, New York, New York., Green EK; School of Biomedical and Health Sciences, Plymouth University Peninsula Schools of Medicine and Dentistry, Plymouth University, Portland Square, Plymouth, UK., Chen CY; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts; Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Boston, Massachusetts., Moran JL; Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts., Chambert K; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts., Belliveau RA Jr; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts., Forty L; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK., Gordon-Smith K; Department of Psychiatry, University of Birmingham, Birmingham, UK., Lee PH; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts; Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts; Department of Psychiatry, Brigham and Women's Hospital, Boston, Massachusetts., Bromet EJ; Department of Psychiatry, Stony Brook University, Stony Brook, New York., Buckley PF; School of Medicine, Virginia Commonwealth University, Richmond, Virginia; Department of Psychiatry, Georgia Regents University Medical Center, Augusta, Georgia., Escamilla MA; Center of Excellence in Neuroscience, Department of Psychiatry, Texas Tech University Health Sciences Center at El Paso, El Paso, Texas., Fanous AH; Department of Psychiatry and the Behavioral Sciences, State University of New York, Downstate Medical Center, New York, New York; Department of Psychiatry, VA New York Harbor Healthcare System, Brooklyn, New York., Fochtmann LJ; Department of Psychiatry, Stony Brook University, Stony Brook, New York., Lehrer DS; Department of Psychiatry, Wright State University, Dayton, Ohio., Malaspina D; Department of Psychiatry, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Genetics and Genomic Sciences, Icahn Institute of Genomics and Multiscale Biology, New York, New York; Department of Psychiatry, New York University, New York, New York., Marder SR; Semel Institute for Neuroscience, University of California, Los Angeles, California., Morley CP; Department of Psychiatry and Behavioral Science, State University of New York, Upstate Medical University, Syracuse, New York; Department of Family Medicine, State University of New York, Upstate Medical University, Syracuse, New York; Department of Public Health and Preventive Medicine, State University of New York, Upstate Medical University, Syracuse, New York., Nicolini H; Center for Genomic Sciences, Universidad Autónoma de la Ciudad de México, Mexico City, Mexico; Department of Psychiatry, Carracci Medical Group, Mexico City, Mexico., Perkins DO; Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina., Rakofsky JJ; Department of Psychiatry and Behavioral Sciences, Emory University, Atlanta, Georgia., Rapaport MH; Department of Psychiatry and Behavioral Sciences, Emory University, Atlanta, Georgia., Medeiros H; Department of Psychiatry and the Behavioral Sciences, State University of New York, Downstate Medical Center, New York, New York., Sobell JL; Department of Psychiatry and the Behavioral Sciences, University of Southern California, Keck School of Medicine, Los Angeles, California., Backlund L; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden., Bergen SE; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Juréus A; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Schalling M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Lichtenstein P; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Knowles JA; Department of Cell Biology, State University of New York, Downstate Medical Center, New York, New York., Burdick KE; Department of Psychiatry, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Psychiatry, Brigham and Women's Hospital, Boston, Massachusetts; Department of Psychiatry, Brigham and Women's Hospital, Boston, Massachusetts., Jones I; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK., Jones LA; Department of Psychiatry, University of Birmingham, Birmingham, UK., Hultman CM; Department of Psychiatry, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Perlis R; Center for Experimental Therapeutics, Massachusetts General Hospital, Boston, Massachusetts., Purcell SM; Department of Psychiatry, Brigham and Women's Hospital, Boston, Massachusetts; Department of Psychiatry, Brigham and Women's Hospital, Boston, Massachusetts., McCarroll SA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts; Department of Genetics, Harvard Medical School, Brigham and Women's Hospital, Boston, Massachusetts., Pato CN; Department of Psychiatry and the Behavioral Sciences, State University of New York, Downstate Medical Center, New York, New York., Pato MT; Department of Psychiatry and the Behavioral Sciences, State University of New York, Downstate Medical Center, New York, New York., Di Florio A; Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK., Craddock N; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK., Landén M; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; Institute of Neuroscience and Physiology, Sahlgenska Academy at the Gothenburg University, Gothenburg, Sweden., Smoller JW; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts; Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Boston, Massachusetts., Ruderfer DM; Division of Genetic Medicine, Departments of Medicine, Biomedical Informatics, and Psychiatry, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tennessee. Electronic address: douglas.ruderfer@vanderbilt.edu., Sklar P; Department of Psychiatry, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Genetics and Genomic Sciences, Icahn Institute of Genomics and Multiscale Biology, New York, New York. |
| المصدر: | Biological psychiatry [Biol Psychiatry] 2019 Jul 15; Vol. 86 (2), pp. 110-119. Date of Electronic Publication: 2018 Dec 20. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: United States NLM ID: 0213264 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2402 (Electronic) Linking ISSN: 00063223 NLM ISO Abbreviation: Biol Psychiatry Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: New York, NY : Elsevier Original Publication: New York, Plenum Pub. Corp. |
| مواضيع طبية MeSH: | Bipolar Disorder/*genetics , DNA Copy Number Variations/*genetics , Psychotic Disorders/*genetics, Bipolar Disorder/psychology ; Case-Control Studies ; Cohort Studies ; Gene Duplication/genetics ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Multifactorial Inheritance ; Psychotic Disorders/psychology ; Schizophrenia/genetics |
| مستخلص: | Background: Genetic risk for bipolar disorder (BD) is conferred through many common alleles, while a role for rare copy number variants (CNVs) is less clear. Subtypes of BD including schizoaffective disorder bipolar type (SAB), bipolar I disorder (BD I), and bipolar II disorder (BD II) differ according to the prominence and timing of psychosis, mania, and depression. The genetic factors contributing to the combination of symptoms among these subtypes are poorly understood. Methods: Rare large CNVs were analyzed in 6353 BD cases (3833 BD I [2676 with psychosis, 850 without psychosis, and 307 with unknown psychosis history], 1436 BD II, 579 SAB, and 505 BD not otherwise specified) and 8656 controls. CNV burden and a polygenic risk score (PRS) for schizophrenia were used to evaluate the relative contributions of rare and common variants to risk of BD, BD subtypes, and psychosis. Results: CNV burden did not differ between BD and controls when treated as a single diagnostic entity. However, burden in SAB was increased relative to controls (p = .001), BD I (p = .0003), and BD II (p = .0007). Burden and schizophrenia PRSs were increased in SAB compared with BD I with psychosis (CNV p = .0007, PRS p = .004), and BD I without psychosis (CNV p = .0004, PRS p = 3.9 × 10 -5 ). Within BD I, psychosis was associated with increased schizophrenia PRSs (p = .005) but not CNV burden. Conclusions: CNV burden in BD is limited to SAB. Rare and common genetic variants may contribute differently to risk for psychosis and perhaps other classes of psychiatric symptoms. (Copyright © 2019 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.) |
| التعليقات: | Comment in: Biol Psychiatry. 2019 Jul 15;86(2):78-80. doi: 10.1016/j.biopsych.2019.05.010. (PMID: 31272529) |
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| معلومات مُعتمدة: | R01 MH106547 United States MH NIMH NIH HHS; K99 MH101367 United States MH NIMH NIH HHS; R01 MH104964 United States MH NIMH NIH HHS; MR/L010305/1 United Kingdom MRC_ Medical Research Council; U01 MH109536 United States MH NIMH NIH HHS; R01 MH085548 United States MH NIMH NIH HHS; R00 MH101367 United States MH NIMH NIH HHS; United Kingdom WT_ Wellcome Trust; R01 MH123451 United States MH NIMH NIH HHS; R01 MH106531 United States MH NIMH NIH HHS; R01 MH119243 United States MH NIMH NIH HHS; R01 MH085542 United States MH NIMH NIH HHS |
| فهرسة مساهمة: | Keywords: Bipolar disorder; Copy number variant; Genetics; Polygenic risk score; Rare variant burden; Schizophrenia |
| تواريخ الأحداث: | Date Created: 20190129 Date Completed: 20200612 Latest Revision: 20240717 |
| رمز التحديث: | 20240717 |
| مُعرف محوري في PubMed: | PMC6586545 |
| DOI: | 10.1016/j.biopsych.2018.12.009 |
| PMID: | 30686506 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1873-2402 |
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| DOI: | 10.1016/j.biopsych.2018.12.009 |