Rare coding variants in ten genes confer substantial risk for schizophrenia

Singh, Tarjinder; Poterba, Timothy; Curtis, David; Akil, Huda; Eissa, Mariam Al; Barchas, Jack D.; Bass, Nicholas; Bigdeli, Tim B.; Breen, Gerome; Bromet, Evelyn J.; Buckley, Peter F.; Bunney, William E.; Bybjerg-Grauholm, Jonas; Byerley, William F.; Chapman, Sinéad B.; Chen, Wei J.; Churchhouse, Claire; Craddock, Nicholas; Cusick, Caroline M.; DeLisi, Lynn; Dodge, Sheila; Escamilla, Michael A.; Eskelinen, Saana; Fanous, Ayman H.; Faraone, Stephen V.; Fiorentino, Alessia; Francioli, Laurent; Gabriel, Stacey B.; Gage, Diane; Taliun, Sarah A. Gagliano; Ganna, Andrea; Genovese, Giulio; Glahn, David C.; Grove, Jakob; Hall, Mei-Hua; Hämäläinen, Eija; Heyne, Henrike O.; Holi, Matti; Hougaard, David M.; Howrigan, Daniel P.; Huang, Hailiang; Hwu, Hai-Gwo; Kahn, René S.; Kang, Hyun Min; Karczewski, Konrad J.; Kirov, George; Knowles, James A.; Lee, Francis S.; Lehrer, Douglas S.; Lescai, Francesco; Malaspina, Dolores; Marder, Stephen R.; McCarroll, Steven A.; McIntosh, Andrew M.; Medeiros, Helena; Milani, Lili; Morley, Christopher P.; Morris, Derek W.; Mortensen, Preben Bo; Myers, Richard M.; Nordentoft, Merete; O’Brien, Niamh L.; Olivares, Ana Maria; Ongur, Dost; Ouwehand, Willem H.; Palmer, Duncan S.; Paunio, Tiina; Quested, Digby; Rapaport, Mark H.; Rees, Elliott; Rollins, Brandi; Satterstrom, F. Kyle; Schatzberg, Alan; Scolnick, Edward; Scott, Laura J.; Sharp, Sally I.; Sklar, Pamela; Smoller, Jordan W.; Sobell, Janet L.; Solomonson, Matthew; Stahl, Eli A.; Stevens, Christine R.; Suvisaari, Jaana; Tiao, Grace; Watson, Stanley J.; Watts, Nicholas A.; Blackwood, Douglas H.; Børglum, Anders D.; Cohen, Bruce M.; Corvin, Aiden P.; Esko, Tõnu; Freimer, Nelson B.; Glatt, Stephen J.; Hultman, Christina M.; McQuillin, Andrew; Palotie, Aarno; Pato, Carlos N.; Pato, Michele T.; Pulver, Ann E.; Clair, David; Tsuang, Ming T.; Vawter, Marquis P.; Walters, James T.; Werge, Thomas M.; Ophoff, Roel A.; Sullivan, Patrick F.; Owen, Michael J.; Boehnke, Michael; O’Donovan, Michael C.; Neale, Benjamin M.; Daly, Mark J.

Rare coding variants in ten genes confer substantial risk for schizophrenia

Tarjinder Singh (), Timothy Poterba, David Curtis, Huda Akil, Mariam Al Eissa, Jack D. Barchas, Nicholas Bass, Tim B. Bigdeli, Gerome Breen, Evelyn J. Bromet, Peter F. Buckley, William E. Bunney, Jonas Bybjerg-Grauholm, William F. Byerley, Sinéad B. Chapman, Wei J. Chen, Claire Churchhouse, Nicholas Craddock, Caroline M. Cusick, Lynn DeLisi, Sheila Dodge, Michael A. Escamilla, Saana Eskelinen, Ayman H. Fanous, Stephen V. Faraone, Alessia Fiorentino, Laurent Francioli, Stacey B. Gabriel, Diane Gage, Sarah A. Gagliano Taliun, Andrea Ganna, Giulio Genovese, David C. Glahn, Jakob Grove, Mei-Hua Hall, Eija Hämäläinen, Henrike O. Heyne, Matti Holi, David M. Hougaard, Daniel P. Howrigan, Hailiang Huang, Hai-Gwo Hwu, René S. Kahn, Hyun Min Kang, Konrad J. Karczewski, George Kirov, James A. Knowles, Francis S. Lee, Douglas S. Lehrer, Francesco Lescai, Dolores Malaspina, Stephen R. Marder, Steven A. McCarroll, Andrew M. McIntosh, Helena Medeiros, Lili Milani, Christopher P. Morley, Derek W. Morris, Preben Bo Mortensen, Richard M. Myers, Merete Nordentoft, Niamh L. O’Brien, Ana Maria Olivares, Dost Ongur, Willem H. Ouwehand, Duncan S. Palmer, Tiina Paunio, Digby Quested, Mark H. Rapaport, Elliott Rees, Brandi Rollins, F. Kyle Satterstrom, Alan Schatzberg, Edward Scolnick, Laura J. Scott, Sally I. Sharp, Pamela Sklar, Jordan W. Smoller, Janet L. Sobell, Matthew Solomonson, Eli A. Stahl, Christine R. Stevens, Jaana Suvisaari, Grace Tiao, Stanley J. Watson, Nicholas A. Watts, Douglas H. Blackwood, Anders D. Børglum, Bruce M. Cohen, Aiden P. Corvin, Tõnu Esko, Nelson B. Freimer, Stephen J. Glatt, Christina M. Hultman, Andrew McQuillin, Aarno Palotie, Carlos N. Pato, Michele T. Pato, Ann E. Pulver, David Clair, Ming T. Tsuang, Marquis P. Vawter, James T. Walters, Thomas M. Werge, Roel A. Ophoff, Patrick F. Sullivan, Michael J. Owen, Michael Boehnke, Michael C. O’Donovan, Benjamin M. Neale () and Mark J. Daly ()
Additional contact information
Tarjinder Singh: Massachusetts General Hospital
Timothy Poterba: Massachusetts General Hospital
David Curtis: University College London
Huda Akil: University of Michigan
Mariam Al Eissa: University College London
Jack D. Barchas: Weill Cornell Medical College
Nicholas Bass: University College London
Tim B. Bigdeli: SUNY Downstate College of Medicine
Gerome Breen: Institute of Psychiatry, Psychology and Neuroscience, King’s College London
Evelyn J. Bromet: Health Sciences Center, Stony Brook University
Peter F. Buckley: Virginia Commonwealth University
William E. Bunney: University of California, Irvine
Jonas Bybjerg-Grauholm: Lundbeck Foundation Initiative for Integrative Psychiatric Research
William F. Byerley: University of California, San Francisco
Sinéad B. Chapman: Broad Institute of MIT and Harvard
Wei J. Chen: National Taiwan University
Claire Churchhouse: Massachusetts General Hospital
Nicholas Craddock: Cardiff University
Caroline M. Cusick: Broad Institute of MIT and Harvard
Lynn DeLisi: Cambridge Health Alliance, Cambridge Hospital
Sheila Dodge: Genomics Platform, Broad Institute of MIT and Harvard
Michael A. Escamilla: Texas Tech University Health Sciences Center
Saana Eskelinen: University of Helsinki and Helsinki University Hospital
Ayman H. Fanous: SUNY Downstate Medical Center
Stephen V. Faraone: SUNY Upstate Medical University
Alessia Fiorentino: University College London
Laurent Francioli: Massachusetts General Hospital
Stacey B. Gabriel: Genomics Platform, Broad Institute of MIT and Harvard
Diane Gage: Broad Institute of MIT and Harvard
Sarah A. Gagliano Taliun: Université de Montréal
Andrea Ganna: Massachusetts General Hospital
Giulio Genovese: Broad Institute of MIT and Harvard
David C. Glahn: Boston Children’s Hospital
Jakob Grove: Lundbeck Foundation Initiative for Integrative Psychiatric Research
Mei-Hua Hall: McLean Hospital, Harvard Medical School
Eija Hämäläinen: University of Helsinki
Henrike O. Heyne: Massachusetts General Hospital
Matti Holi: Helsinki University Hospital, University of Helsinki
David M. Hougaard: Lundbeck Foundation Initiative for Integrative Psychiatric Research
Daniel P. Howrigan: Massachusetts General Hospital
Hailiang Huang: Massachusetts General Hospital
Hai-Gwo Hwu: National Taiwan University
René S. Kahn: Icahn School of Medicine at Mount Sinai
Hyun Min Kang: University of Michigan
Konrad J. Karczewski: Massachusetts General Hospital
George Kirov: Cardiff University
James A. Knowles: SUNY Downstate Medical Center
Francis S. Lee: Weill Cornell Medical College
Douglas S. Lehrer: Wright State University
Francesco Lescai: Lundbeck Foundation Initiative for Integrative Psychiatric Research
Dolores Malaspina: Icahn School of Medicine at Mount Sinai
Stephen R. Marder: Icahn School of Medicine at Mount Sinai
Steven A. McCarroll: Broad Institute of MIT and Harvard
Andrew M. McIntosh: University of Edinburgh
Helena Medeiros: SUNY Downstate Medical Center
Lili Milani: University of Tartu
Christopher P. Morley: SUNY Upstate Medical University
Derek W. Morris: National University of Ireland
Preben Bo Mortensen: Aarhus University
Richard M. Myers: HudsonAlpha Institute for Biotechnology
Merete Nordentoft: Lundbeck Foundation Initiative for Integrative Psychiatric Research
Niamh L. O’Brien: University College London
Ana Maria Olivares: Broad Institute of MIT and Harvard
Dost Ongur: McLean Hospital, Harvard Medical School
Willem H. Ouwehand: University of Cambridge
Duncan S. Palmer: Massachusetts General Hospital
Tiina Paunio: University of Helsinki
Digby Quested: Oxford Health NHS Foundation Trust
Mark H. Rapaport: Emory University
Elliott Rees: Cardiff University
Brandi Rollins: University of California, Irvine
F. Kyle Satterstrom: Massachusetts General Hospital
Alan Schatzberg: Massachusetts General Hospital
Edward Scolnick: Broad Institute of MIT and Harvard
Laura J. Scott: University of Michigan
Sally I. Sharp: University College London
Pamela Sklar: Icahn School of Medicine at Mount Sinai
Jordan W. Smoller: Massachusetts General Hospital
Janet L. Sobell: University of Southern California
Matthew Solomonson: Broad Institute of Harvard and MIT
Eli A. Stahl: Icahn School of Medicine at Mount Sinai
Christine R. Stevens: Broad Institute of MIT and Harvard
Jaana Suvisaari: Finnish Institute for Health and Welfare
Grace Tiao: Broad Institute of Harvard and MIT
Stanley J. Watson: University of Michigan
Nicholas A. Watts: Broad Institute of Harvard and MIT
Douglas H. Blackwood: University of Edinburgh
Anders D. Børglum: Lundbeck Foundation Initiative for Integrative Psychiatric Research
Bruce M. Cohen: McLean Hospital, Harvard Medical School
Aiden P. Corvin: Trinity College Dublin
Tõnu Esko: University of Tartu
Nelson B. Freimer: Karolinska Institutet
Stephen J. Glatt: SUNY Upstate Medical University
Christina M. Hultman: Johns Hopkins University
Andrew McQuillin: University College London
Aarno Palotie: Massachusetts General Hospital
Carlos N. Pato: SUNY Downstate College of Medicine
Michele T. Pato: SUNY Downstate College of Medicine
Ann E. Pulver: Johns Hopkins University
David Clair: University of Aberdeen
Ming T. Tsuang: University of California, San Diego
Marquis P. Vawter: University of California, Irvine
James T. Walters: Cardiff University
Thomas M. Werge: Lundbeck Foundation Initiative for Integrative Psychiatric Research
Roel A. Ophoff: University of California, Los Angeles
Patrick F. Sullivan: Karolinska Institute
Michael J. Owen: Cardiff University
Michael Boehnke: University of Michigan
Michael C. O’Donovan: Cardiff University
Benjamin M. Neale: Massachusetts General Hospital
Mark J. Daly: Massachusetts General Hospital

Nature, 2022, vol. 604, issue 7906, 509-516

Abstract: Abstract Rare coding variation has historically provided the most direct connections between gene function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 schizophrenia cases and 97,322 controls, we implicate ultra-rare coding variants (URVs) in 10 genes as conferring substantial risk for schizophrenia (odds ratios of 3–50, P

Date: 2022
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DOI: 10.1038/s41586-022-04556-w

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