دورية أكاديمية
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations.
| العنوان: | Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations. |
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| المؤلفون: | Liu D; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. dol31@pitt.edu., Meyer D; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Fennessy B; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Feng C; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Wellcome Sanger Institute, Hinxton, UK., Cheng E; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Johnson JS; Pamela Sklar Division of Psychiatric Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Park YJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Rieder MK; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Ascolillo S; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., de Pins A; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Dobbyn A; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Lebovitch D; Pamela Sklar Division of Psychiatric Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Moya E; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Nguyen TH; Virginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond, VA, USA., Wilkins L; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Hassan A; University of Peshawar, Peshawar, Pakistan., Burdick KE; Department of Psychiatry, Brigham and Women's Hospital, Boston, MA, USA.; Department of Psychiatry, Harvard Medical School, Boston, MA, USA., Buxbaum JD; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Domenici E; Centre for Computational and Systems Biology, Fondazione The Microsoft Research - University of Trento, Rovereto, Italy.; Department of Cellular, Computational and Integrative Biology, University of Trento, Trento, Italy., Frangou S; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, British Columbia, Canada., Hartmann AM; Department of Psychiatry and Psychotherapy, Medical University of Vienna, Vienna, Austria., Laurent-Levinson C; Faculté de Médecine Sorbonne Université, Groupe de Recherche Clinique n°15-Troubles Psychiatriques et Développement, Department of Child and Adolescent Psychiatry, Hôpital Universitaire de la Pitié-Salpêtrière, Paris, France.; Centre de Référence des Maladies Rares à Expression Psychiatrique, Department of Child and Adolescent Psychiatry, AP-HP Sorbonne Université, Hôpital Universitaire de la Pitié-Salpêtrière, Paris, France., Malhotra D; Department of Neuroscience and Rare Diseases, Roche Pharma Research and Early Development, F. Hoffmann-La Roche, Basel, Switzerland., Pato CN; Department of Psychiatry and Behavioral Sciences, SUNY Downstate College of Medicine, New York, NY, USA., Pato MT; Department of Psychiatry and Behavioral Sciences, SUNY Downstate College of Medicine, New York, NY, USA., Ressler K; Department of Psychiatry, Harvard Medical School, Boston, MA, USA.; Division of Depression and Anxiety Disorders, McLean Hospital, Belmont, MA, USA., Roussos P; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Pamela Sklar Division of Psychiatric Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Mental Illness Research, Education, and Clinical Center (VISN 2 South), James J. Peters VA Medical Center, New York, NY, USA., Rujescu D; Department of Psychiatry and Psychotherapy, Medical University of Vienna, Vienna, Austria., Arango C; Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón, Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Centro de Investigación Biomédica en Red de Salud Mental, Madrid, Spain., Bertolino A; Department of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy., Blasi G; Department of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy., Bocchio-Chiavetto L; Department of Theoretical and Applied Sciences, eCampus University, Novedrate, Italy.; Genetics Unit, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy., Campion D; INSERM U1245, Rouen, France.; Centre Hospitalier du Rouvray, Rouen, France., Carr V; Neuroscience Research Australia, Sydney, New South Wales, Australia.; School of Psychiatry, University of New South Wales, Sydney, New South Wales, Australia.; Department of Psychiatry, School of Clinical Sciences, Monash University, Melbourne, Victoria, Australia., Fullerton JM; Neuroscience Research Australia, Sydney, New South Wales, Australia.; School of Medical Sciences, University of New South Wales, Sydney, New South Wales, Australia., Gennarelli M; Genetics Unit, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy., González-Peñas J; Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón, Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Centro de Investigación Biomédica en Red de Salud Mental, Madrid, Spain., Levinson DF; Department of Psychiatry, Stanford University, Stanford, CA, USA., Mowry B; Queensland Brain Institute, The University of Queensland, Brisbane, Queensland, Australia.; Queensland Centre for Mental Health Research, The University of Queensland, Brisbane, Queensland, Australia., Nimgaokar VL; Department of Psychiatry, University of Pittsburgh School of Medicine, Western Psychiatric Hospital, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA., Pergola G; Department of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy., Rampino A; Department of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy., Cervilla JA; Institute of Neurosciences, Biomedical Research Centre, University of Granada, Granada, Spain.; Department of Psychiatry, San Cecilio University Hospital, University of Granada, Granada, Spain., Rivera M; Institute of Neurosciences, Biomedical Research Centre, University of Granada, Granada, Spain.; Department of Biochemistry and Molecular Biology II, Faculty of Pharmacy, University of Granada, Granada, Spain., Schwab SG; Molecular Horizons, Faculty of Science, Medicine and Health, University of Wollongong, Wollongong, New South Wales, Australia., Wildenauer DB; The University of Western Australia, Perth, Western Australia, Australia., Daly M; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland., Neale B; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Singh T; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Donovan MC; MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Owen MJ; MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Walters JT; MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK., Ayub M; University College London, London, UK.; Department of Psychiatry, Queen's University, Kingston, Ontario, Canada., Malhotra AK; Department of Psychiatry, Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY, USA.; Institute for Behavioral Science, Feinstein Institutes for Medical Research, Manhasset, NY, USA.; Division of Psychiatry Research, The Zucker Hillside Hospital, Northwell Health, New York, NY, USA., Lencz T; Department of Psychiatry, Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY, USA.; Institute for Behavioral Science, Feinstein Institutes for Medical Research, Manhasset, NY, USA.; Division of Psychiatry Research, The Zucker Hillside Hospital, Northwell Health, New York, NY, USA., Sullivan PF; Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill, NC, USA.; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Sklar P; Pamela Sklar Division of Psychiatric Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Stahl EA; Pamela Sklar Division of Psychiatric Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Regeneron Pharmaceuticals, Tarrytown, NY, USA., Huckins LM; Pamela Sklar Division of Psychiatric Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. laura.huckins@mssm.edu., Charney AW; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. alexander.charney@mssm.edu.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA. alexander.charney@mssm.edu. |
| مؤلفون مشاركون: | Psychiatric Genomics Consortium Phase 3 Targeted Sequencing of Schizophrenia Study Team |
| المصدر: | Nature genetics [Nat Genet] 2023 Mar; Vol. 55 (3), pp. 369-376. Date of Electronic Publication: 2023 Mar 13. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S. |
| اللغة: | English |
| بيانات الدورية: | Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: New York, NY : Nature Pub. Co., c1992- |
| مواضيع طبية MeSH: | Schizophrenia*/genetics , Autistic Disorder*/genetics, Humans ; Alleles ; Genetic Predisposition to Disease ; Genome-Wide Association Study/methods |
| مستخلص: | Schizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions encountered in medical practice. A recent landmark SCZ study of the protein-coding regions of the genome identified a causal role for ten genes and a concentration of rare variant signals in evolutionarily constrained genes 1 . This recent study-and most other large-scale human genetics studies-was mainly composed of individuals of European (EUR) ancestry, and the generalizability of the findings in non-EUR populations remains unclear. To address this gap, we designed a custom sequencing panel of 161 genes selected based on the current knowledge of SCZ genetics and sequenced a new cohort of 11,580 SCZ cases and 10,555 controls of diverse ancestries. Replicating earlier work, we found that cases carried a significantly higher burden of rare protein-truncating variants (PTVs) among evolutionarily constrained genes (odds ratio = 1.48; P = 5.4 × 10 -6 ). In meta-analyses with existing datasets totaling up to 35,828 cases and 107,877 controls, this excess burden was largely consistent across five ancestral populations. Two genes (SRRM2 and AKAP11) were newly implicated as SCZ risk genes, and one gene (PCLO) was identified as shared by individuals with SCZ and those with autism. Overall, our results lend robust support to the rare allelic spectrum of the genetic architecture of SCZ being conserved across diverse human populations. (© 2023. The Author(s).) |
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| معلومات مُعتمدة: | MR/L010305/1 United Kingdom MRC_ Medical Research Council; R01 MH104964 United States MH NIMH NIH HHS; R01 MH113619 United States MH NIMH NIH HHS; R01 MH123451 United States MH NIMH NIH HHS |
| فهرسة مساهمة: | Investigator: HS Aghanwa; M Ansari; A Asif; R Aslam; JL Ayuso; T Bigdeli; S Bignotti; J Bobes; B Bradley; P Buckley; MJ Cairns; SV Catts; AR Chaudhry; D Cohen; BL Collins; A Consoli; J Costas; B Crespo-Facorro; NP Daskalakis; M Davidson; KL Davis; F Dickerson; IA Dogar; E Drapeau; L Fañanás; A Fanous; W Fatima; M Fatjo; C Filippich; J Friedman; JF Fullard; P Georgakopoulos; M Giannitelli; I Giegling; MJ Green; O Guillin; B Gutierrez; HY Handoko; SK Hansen; M Haroon; V Haroutunian; FA Henskens; F Hussain; AV Jablensky; J Junejo; BJ Kelly; SA Khan; MNS Khan; A Khan; HR Khawaja; B Khizar; SP Kleopoulos; J Knowles; B Konte; AAAA Kusumawardhani; N Leghari; X Liu; A Lori; CM Loughland; K Mahmood; S Mahmood; D Malaspina; D Malik; A McNaughton; PT Michie; V Michopolous; E Molina; MD Molto; A Munir; G Muntané; F Naeem; DJ Nancarrow; A Nasar; T Nasr; JU Ohaeri; J Ott; C Pantelis; S Periyasamy; AG Pinto; A Powers; B Ramos; NH Rana; M Rapaport; A Reichenberg; S Saker-Delye; U Schall; PR Schofield; RJ Scott; M Shanahan; CS Weickert; C Sjaarda; HJ Smith; JJ Suárez-Rama; M Tariq; F Thibaut; PA Tooney; M Umar; E Vilella; M Weiser; JQ Wu; R Yolken |
| تواريخ الأحداث: | Date Created: 20230314 Date Completed: 20230315 Latest Revision: 20240221 |
| رمز التحديث: | 20240221 |
| مُعرف محوري في PubMed: | PMC10011128 |
| DOI: | 10.1038/s41588-023-01305-1 |
| PMID: | 36914870 |
| قاعدة البيانات: | MEDLINE |
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| DOI: | 10.1038/s41588-023-01305-1 |