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Genome-wide association study identifies five new schizophrenia loci

Nature Genetics volume 43, pages 969–976 (2011)Cite this article

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Abstract

We examined the role of common genetic variation in schizophrenia in a genome-wide association study of substantial size: a stage 1 discovery sample of 21,856 individuals of European ancestry and a stage 2 replication sample of 29,839 independent subjects. The combined stage 1 and 2 analysis yielded genome-wide significant associations with schizophrenia for seven loci, five of which are new (1p21.3, 2q32.3, 8p23.2, 8q21.3 and 10q24.32-q24.33) and two of which have been previously implicated (6p21.32-p22.1 and 18q21.2). The strongest new finding (P = 1.6 × 10−11) was with rs1625579 within an intron of a putative primary transcript for MIR137 (microRNA 137), a known regulator of neuronal development. Four other schizophrenia loci achieving genome-wide significance contain predicted targets of MIR137, suggesting MIR137-mediated dysregulation as a previously unknown etiologic mechanism in schizophrenia. In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls), three loci reached genome-wide significance: CACNA1C (rs4765905, P = 7.0 × 10−9), ANK3 (rs10994359, P = 2.5 × 10−8) and the ITIH3-ITIH4 region (rs2239547, P = 7.8 × 10−9).

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Figure 1: Manhattan plot for stages 1 and 2.
Figure 2: Regional association plots for five new schizophrenia loci.

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Acknowledgements

We thank the study participants and the research staff at the many study sites. Over 40 US National Institutes of Health grants and similar numbers of government grants from other countries, along with substantial private and foundation support, enabled this work. We greatly appreciate the sustained efforts of T. Lehner (National Institute of Mental Health) on behalf of the Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (PGC). Detailed acknowledgments, including grant support, are listed in the Supplementary Note.

Author information

Author notes

  1. Maurice Jay, Virginia K Lasseter and Leena Peltonen: Deceased.

Authors and Affiliations

  1. Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA

    Stephan Ripke, Pamela Sklar, Lizzy Rossin, Douglas M Ruderfer, Sarah E Bergen & Mark J Daly

  2. Department of Psychiatry and Behavioral Sciences, NorthShore University HealthSystem, Evanston, Illinois, USA

    Alan R Sanders, Jubao Duan & Pablo V Gejman

  3. Department of Psychiatry and Behavioral Sciences, University of Chicago, Chicago, Illinois, USA

    Alan R Sanders, Jubao Duan & Pablo V Gejman

  4. Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA

    Kenneth S Kendler, Brion S Maher, Robert Ribble, Brien P Riley & Brandon Wormley

  5. Department of Psychiatry, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA

    Kenneth S Kendler, Ayman Fanous, Brion S Maher, Robert Ribble, Brien P Riley & Brandon Wormley

  6. Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA

    Kenneth S Kendler, Brion S Maher, Robert Ribble, Brien P Riley & Brandon Wormley

  7. Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USA

    Douglas F Levinson & Madeline Alexander

  8. Department of Psychiatry, Mount Sinai School of Medicine, New York, New York, USA

    Pamela Sklar & Jeremy M Silverman

  9. Medical Research Council (MRC) Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK

    Peter A Holmans, Nicholas Craddock, Sarah Dwyer, Lyudmila Georgieva, Marian Hamshere, George K Kirov, Valentina Moskvina, Ivan Nikolov, Nadine Norton, Michael J Owen, Hywel J Williams, Nigel M Williams, Stan Zammit & Michael C O'Donovan

  10. Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK

    Peter A Holmans, Nicholas Craddock, Sarah Dwyer, Lyudmila Georgieva, Marian Hamshere, George K Kirov, Valentina Moskvina, Ivan Nikolov, Nadine Norton, Michael J Owen, Hywel J Williams, Nigel M Williams, Stan Zammit & Michael C O'Donovan

  11. Department of Biostatistics, University of North Carolina, Chapel Hill, North Carolina, USA

    Dan-Yu Lin

  12. Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands

    Roel A Ophoff & Eric Strengman

  13. Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands

    Roel A Ophoff & Eric Strengman

  14. University of California at Los Angeles (UCLA) Center for Neurobehavioral Genetics, University of California at Los Angeles, Los Angeles, California, USA

    Roel A Ophoff, Rita M Cantor & Nelson B Freimer

  15. Department of Human Genetics, University of California at Los Angeles, Los Angeles, California, USA

    Roel A Ophoff & Rita M Cantor

  16. Psychiatry Section, Institute of Clinical Medicine, University of Oslo, Oslo, Norway

    Ole A Andreassen, Ingrid Agartz, Srdjan Djurovic, Morten Mattingsdal & Ingrid Melle

  17. Department of Psychiatry, Oslo University Hospital, Oslo, Norway

    Ole A Andreassen & Ingrid Melle

  18. Broad Institute, Cambridge, Massachusetts, USA

    Edward Scolnick, Shaun Purcell & Benjamin M Neale

  19. Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany

    Sven Cichon, Manuel Mattheisen & Markus M Nöthen

  20. Institute of Neuroscience and Medicine (INM-1), Research Center Juelich, Juelich, Germany

    Sven Cichon

  21. Institute of Human Genetics, University of Bonn, Bonn, Germany

    Sven Cichon, Manuel Mattheisen & Markus M Nöthen

  22. Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen, UK

    David St. Clair

  23. Neuropsychiatric Genetics Research Group, Trinity College Dublin, Dublin, Ireland

    Aiden Corvin, Paul Cormican, Gary Donohoe, Michael Gill, Elaine Kenny, Derek W Morris, Colm T O'Dushlaine & Emma M Quinn

  24. Research Department of Mental Health Sciences, Molecular Psychiatry Laboratory, University College London Medical School, Windeyer Institute of Medical Sciences, London, UK

    Hugh Gurling, Nicholas Bass, Khalid Choudhury, Susmita Datta, Robert Krasucki, Jacob Lawrence, Andrew McQuillin, Jonathan Pimm & Vinay Puri

  25. Institute of Biological Psychiatry, Mental Health Center (MHC) Sct. Hans, Copenhagen University Hospital, Roskilde, Denmark

    Thomas Werge, Linh Duong, Thomas Hansen, Andrés Ingason, Klaus D Jakobsen, Line Olsen, Henrik B Rasmussen & Johan H Thygesen

  26. Department of Psychiatry, Molecular and Clinical Neurobiology, Ludwig-Maximilians-University, Munich, Germany

    Dan Rujescu, Marion Friedl, Ina Giegling, Annette M Hartmann, Heike Konnerth & Bettina Konte

  27. Division of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, UK

    Douglas H R Blackwood, Alan W Maclean, Pat Malloy, Kevin A McGhee & Andrew McIntosh

  28. Keck School of Medicine, University of Southern California, Los Angeles, California, USA

    Carlos N Pato & Michele T Pato

  29. Department of Psychiatry, Division of Research, The Zucker Hillside Hospital Division of the North Shore-Long Island Jewish Health System, Glen Oaks, New York, USA

    Anil K Malhotra & Todd Lencz

  30. Center for Psychiatric Neuroscience, The Feinstein Institute for Medical Research, Manhasset, New York, USA

    Anil K Malhotra & Todd Lencz

  31. Department of Psychiatry and Behavioral Science, Albert Einstein College of Medicine of Yeshiva University, New York, New York, USA

    Anil K Malhotra & Todd Lencz

  32. Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK

    Frank Dudbridge

  33. Queensland Statistical Genetics Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland, Australia

    Peter M Visscher

  34. Department of Functional Genomics, Vrije Universiteit (VU), Center for Neurogenomics and Cognitive Research (CNCR), Amsterdam, The Netherlands

    Danielle Posthuma

  35. Department of Medical Genomics, VU Medical Centre, Amsterdam, The Netherlands

    Danielle Posthuma

  36. Washington Veteran's Affairs Medical Center, Washington, DC, USA

    Ayman Fanous & Richard L Amdur

  37. Department of Psychiatry, Georgetown University School of Medicine, Washington, DC, USA

    Ayman Fanous & Richard L Amdur

  38. deCODE Genetics, Reykjavik, Iceland

    Hreinn Stefansson, Stacy Steinberg & Kari Stefansson

  39. Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia

    Bryan J Mowry, John J McGrath & Deborah A Nertney

  40. Queensland Centre for Mental Health Research, University of Queensland, Brisbane, Queensland, Australia

    Bryan J Mowry, John J McGrath & Deborah A Nertney

  41. Mental Health Research Center, Russian Academy of Medical Sciences, Moscow, Russia

    Vera Golimbet

  42. University Psychiatric Centre, Catholic University Leuven, Kortenberg, Belgium

    Marc De Hert & Ruud van Winkel

  43. Department of Clinical Neuroscience, Human Brain Informatics (HUBIN) Project, Karolinska Institutet and Hospital, Stockholm, Sweden

    Erik G Jönsson & Lars Terenius

  44. Department of Psychiatry and Psychotherapy, Semmelweis University, Budapest, Hungary

    István Bitter & János M Réthelyi

  45. Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland

    Olli P H Pietiläinen & Leena Peltonen

  46. Department of Medical Genetics, University of Helsinki, Helsinki, Finland

    Olli P H Pietiläinen & Leena Peltonen

  47. Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College, London, UK

    David A Collier

  48. Section of Psychiatry and Clinical Psychology, University of Verona, Verona, Italy

    Sarah Tosato & Mirella Ruggeri

  49. Department of Research, Diakonhjemmet Hospital, Oslo, Norway

    Ingrid Agartz

  50. State Mental Hospital, Haar, Germany

    Margot Albus

  51. Department of Psychiatry and Behavioral Sciences, Emory University, Atlanta, Georgia, USA

    Farooq Amin

  52. Department of Psychiatry and Behavioral Sciences, Atlanta Veterans Affairs Medical Center, Atlanta, Georgia, USA

    Farooq Amin

  53. Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA

    Donald W Black

  54. Institute of Human Genetics, University of Aarhus, Aarhus, Denmark

    Anders D Børglum & Ditte Demontis

  55. Centre for Psychiatric Research, Aarhus University Hospital, Risskov, Denmark

    Anders D Børglum & Ole Mors

  56. University of Queensland Diamantina Institute, Princess Alexandra Hospital, University of Queensland, Brisbane, Queensland, Australia

    Matthew A Brown & Patrick A Danoy

  57. Department of Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands

    Richard Bruggeman & Durk Wiersma

  58. School of Nursing, Louisiana State University Health Sciences Center, New Orleans, Louisiana, USA

    Nancy G Buccola

  59. Department of Psychiatry, University of California at San Francisco, San Francisco, California, USA

    William F Byerley

  60. NCIRE (Northern California Institute for Research and Education), San Francisco, California, USA

    William F Byerley

  61. Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands

    Wiepke Cahn & René S Kahn

  62. School of Psychiatry, University of New South Wales and Schizophrenia Research Institute, Sydney, New South Wales, Australia

    Vaughan J Carr

  63. Department of Psychiatry, University of Queensland, Royal Brisbane Hospital, Brisbane, Australia

    Stanley V Catts

  64. Department of Psychiatry, Washington University, St. Louis, Missouri, USA

    C Robert Cloninger

  65. Department of Psychiatry, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands

    Lieuwe de Haan & Don H Linszen

  66. Department of Psychiatry, University of Athens Medical School, Athens, Greece

    Dimitris Dikeos & George Papadimitriou

  67. Department of Medical Genetics, Oslo University Hospital, Oslo, Norway

    Srdjan Djurovic

  68. Wellcome Trust Centre for Human Genetics, Oxford, UK

    Peter Donnelly, Chris C A Spencer & Amy Strange

  69. Department of Statistics, University of Oxford, Oxford, UK

    Peter Donnelly

  70. Mental Health Center Copenhagen, Copenhagen University Hospital, Copenhagen, Denmark

    Anders Fink-Jensen

  71. Department of Psychiatry, University of Colorado Denver, Aurora, Colorado, USA

    Robert Freedman & Ann Olincy

  72. Center for Clinical Intervention and Neuropsychiatric Schizophrenia Research, Mental Health Center Glostrup, Copenhagen University Hospital, Glostrup, Denmark

    Birte Glenthøj

  73. INSERM, Institut de Myologie, Hôpital de la Pitié-Salpêtrière, Paris, France

    Stephanie Godard

  74. Illumina, Inc., La Jolla, California, USA

    Mark Hansen

  75. School of Electrical Engineering and Computing Science, University of Newcastle, Newcastle, New South Wales, Australia

    Frans A Henskens

  76. Department of Clinical Chemistry and Immunology, Section of Neonatal Screening and Hormones, The State Serum Institute, Copenhagen, Denmark

    David M Hougaard

  77. Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden

    Christina M Hultman, Paul Lichtenstein & Patrick F Sullivan

  78. Centre for Clinical Research in Neuropsychiatry, School of Psychiatry and Clinical Neurosciences, The University of Western Australia, Perth, Western Australia, Australia

    Assen V Jablensky

  79. Department of Child and Adolescent Psychiatry, Pierre and Marie Curie Faculty of Medicine, Paris, France

    Maurice Jay & Claudine Laurent

  80. Department of Clinical Pharmacology, Bispebjerg University Hospital, Copenhagen, Denmark

    Gesche Jürgens

  81. Department of Psychology, University of Colorado, Boulder, Boulder, Colorado, USA

    Matthew C Keller

  82. Department of Psychiatry and Psychology, School of Mental Health and Neuroscience, European Graduate School of Neuroscience (EURON), South Limburg Mental Health Research and Teaching Network (SEARCH), Maastricht University Medical Centre, Maastricht, The Netherlands

    Gunter Kenis & Ruud van Winkel

  83. Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA

    Yunjung Kim & Patrick F Sullivan

  84. Maastricht University Medical Centre, South Limburg Mental Health Research and Teaching Network, Maastricht, The Netherlands

    Lydia Krabbendam, Inez Myin-Germeys & Jim van Os

  85. Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

    Virginia K Lasseter, Gerald Nestadt & Ann E Pulver

  86. Department of Psychiatry, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

    F Bernard Lerer

  87. Department of Biostatistics, Johns Hopkins University Bloomberg School of Public Health, Baltimore, Maryland, USA

    Kung-Yee Liang

  88. Department of Psychiatry, Columbia University, New York, New York, USA

    Jeffrey A Lieberman & T Scott Stroup

  89. Department of Mental Health and Substance Abuse Services, National Institute for Health and Welfare, Helsinki, Finland

    Jouko Lönnqvist & Jaana Suvisaari

  90. Schizophrenia Research Institute, Sydney and Centre for Brain and Mental Health Research, University of Newcastle, Newcastle, New South Wales, Australia

    Carmel M Loughland

  91. Department of Psychiatry, University of Bonn, Bonn, Germany

    Wolfgang Maier & Marcella Rietschel

  92. Laboratoire de Génétique Moléculaire de la Neurotransmission et des Processus Neurodégénératifs, Centre National de la Recherche Scientifique, Hôpital de la Pitié Salpêtrière, Paris, France

    Jacques Mallet

  93. Institute of Medical Biometry, Informatics and Epidemiology (IMBIE), University of Bonn, Bonn, Germany

    Manuel Mattheisen

  94. Department of Research, Sørlandet Hospital, Kristiansand, Norway

    Morten Mattingsdal

  95. Queensland Centre for Mental Health Research, The Park Centre for Mental Health, Wacol, Queensland, Australia

    Duncan E McLean

  96. Functional NeuroImaging Laboratory, School of Psychology, University of Newcastle, Sydney, New South Wales, Australia

    Patricia T Michie

  97. Schizophrenia Research Institute, Sydney, New South Wales, Australia

    Patricia T Michie & Ulrich Schall

  98. Department of Psychiatry, First Psychiatric Clinic, Alexander University Hospital, Sofia, Bulgaria

    Vihra Milanova

  99. National Centre for Register-Based Research, University of Aarhus, Aarhus, Denmark

    Preben B Mortensen

  100. Department of Psychiatry, University of Toronto, Toronto, Canada

    Pierandrea Muglia

  101. NeuroSearch A/S, Ballerup, Denmark

    Pierandrea Muglia

  102. Unit for Psychiatric Research, Aalborg Psychiatric Hospital, Aalborg, Denmark

    Jimmi Nielsen

  103. Psychiatric Centre Copenhagen, Copenhagen University Hospital, Copenhagen, Denmark

    Merete Nordentoft

  104. Department of Psychiatry, Queens University, Belfast, Ireland

    F Anthony O'Neill

  105. ARoS Applied Biotechnology A/S, Skejby, Denmark

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  106. Department of Molecular Medicine, Aarhus University Hospital, Skejby, Denmark

    Torben F Ørntoft

  107. Department of Psychiatry, Melbourne Neuropsychiatry Centre, The University of Melbourne and Melbourne Health, Melbourne, Victoria, Australia

    Christos Pantelis

  108. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK

    Leena Peltonen

  109. Department of Psychiatry, National University Hospital, Reykjavik, Iceland

    Hannes Petursson & Engilbert Sigurdsson

  110. Strathclyde Institute of Pharmacy and Biomedical Sciences, The John Arbuthnott Building, University of Strathclyde, Glasgow, UK

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  111. Department of Psychiatry, University of Oxford, Warneford Hospital, Headington, Oxford, UK

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  112. Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, University of Heidelberg, Mannheim, Germany

    Marcella Rietschel & Thomas G Schulze

  113. Priority Centre for Brain and Mental Health Research, University of Newcastle, Sydney, New South Wales, Australia

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  114. Department of Psychiatry and Psychotherapy, Georg-August-University, Göttingen, Germany

    Thomas G Schulze

  115. School of Psychiatry and Clinical Neurosciences, University of Western Australia, Perth, Western Australia, Australia

    Sibylle G Schwab & Dieter B Wildenauer

  116. Department of Psychiatry, University of Erlangen-Nuremberg, Erlangen, Germany

    Sibylle G Schwab

  117. Centre for Medical Research, Western Australian Institute for Medical Research, University of Western Australia, Perth, Western Australia, Australia

    Sibylle G Schwab

  118. Centre for Information Based Medicine, University of Newcastle, Hunter Medical Research Institute, Newcastle and Schizophrenia Research Institute, Sydney, New South Wales, Australia

    Rodney J Scott

  119. Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA

    Jianxin Shi

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  121. Department of Psychiatry, Veterans Affairs Medical Center, New York, New York, USA

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  122. West Berkshire National Health Service (NHS) Trust, Reading, UK

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  123. Mental Health Center Frederiksberg, Copenhagen University Hospital, Copenhagen, Denmark

    Sally Timm

  124. Department of Medical Genetics, University Hospital Maichin Dom, Sofia, Bulgaria

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  125. Department of Pharmacy, Virginia Commonwealth University, Richmond, Virginia, USA

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  126. Department of Neurology, Rudolf Magnus Institute of Neuroscience, Universitair Medisch Centrum (UMC) Utrecht, Utrecht, The Netherlands

    Jan Veldink

  127. The Health Research Board, Dublin, Ireland

    Dermot Walsh

  128. Mental Health Center Amager, Copenhagen University Hospital, Copenhagen, Denmark

    August G Wang

  129. Centre for Clinical Research in Neuropsychiatry, Graylands Hospital, Mt Claremont, Western Australia, Australia

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  130. Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA

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  131. Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA

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Consortia

The Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium

  • Stephan Ripke
  • , Alan R Sanders
  • , Kenneth S Kendler
  • , Douglas F Levinson
  • , Pamela Sklar
  • , Peter A Holmans
  • , Dan-Yu Lin
  • , Jubao Duan
  • , Roel A Ophoff
  • , Ole A Andreassen
  • , Edward Scolnick
  • , Sven Cichon
  • , David St. Clair
  • , Aiden Corvin
  • , Hugh Gurling
  • , Thomas Werge
  • , Dan Rujescu
  • , Douglas H R Blackwood
  • , Carlos N Pato
  • , Anil K Malhotra
  • , Shaun Purcell
  • , Frank Dudbridge
  • , Benjamin M Neale
  • , Lizzy Rossin
  • , Peter M Visscher
  • , Danielle Posthuma
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  • , Ayman Fanous
  • , Hreinn Stefansson
  • , Stacy Steinberg
  • , Bryan J Mowry
  • , Vera Golimbet
  • , Marc De Hert
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  • , István Bitter
  • , Olli P H Pietiläinen
  • , David A Collier
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  • , Ingrid Agartz
  • , Margot Albus
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  • , Dimitris Dikeos
  • , Srdjan Djurovic
  • , Peter Donnelly
  • , Gary Donohoe
  • , Linh Duong
  • , Sarah Dwyer
  • , Anders Fink-Jensen
  • , Robert Freedman
  • , Nelson B Freimer
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  • , Lyudmila Georgieva
  • , Ina Giegling
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  • , Mark Hansen
  • , Thomas Hansen
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  • , Christina M Hultman
  • , Andrés Ingason
  • , Assen V Jablensky
  • , Klaus D Jakobsen
  • , Maurice Jay
  • , Gesche Jürgens
  • , René S Kahn
  • , Matthew C Keller
  • , Gunter Kenis
  • , Elaine Kenny
  • , Yunjung Kim
  • , George K Kirov
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  • , Robert Krasucki
  • , Virginia K Lasseter
  • , Claudine Laurent
  • , Jacob Lawrence
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  • , Paul Lichtenstein
  • , Jeffrey A Lieberman
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  • , Wolfgang Maier
  • , Jacques Mallet
  • , Pat Malloy
  • , Manuel Mattheisen
  • , Morten Mattingsdal
  • , Kevin A McGhee
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  • , Andrew McIntosh
  • , Duncan E McLean
  • , Andrew McQuillin
  • , Ingrid Melle
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  • , Pierandrea Muglia
  • , Inez Myin-Germeys
  • , Deborah A Nertney
  • , Gerald Nestadt
  • , Jimmi Nielsen
  • , Ivan Nikolov
  • , Merete Nordentoft
  • , Nadine Norton
  • , Markus M Nöthen
  • , Colm T O'Dushlaine
  • , Ann Olincy
  • , Line Olsen
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  • , Torben F Ørntoft
  • , Michael J Owen
  • , Christos Pantelis
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  • , Ann E Pulver
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  • , Emma M Quinn
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  • , Robert Ribble
  • , Marcella Rietschel
  • , Brien P Riley
  • , Mirella Ruggeri
  • , Ulrich Schall
  • , Thomas G Schulze
  • , Sibylle G Schwab
  • , Rodney J Scott
  • , Jianxin Shi
  • , Engilbert Sigurdsson
  • , Jeremy M Silverman
  • , Chris C A Spencer
  • , Kari Stefansson
  • , Amy Strange
  • , Eric Strengman
  • , T Scott Stroup
  • , Jaana Suvisaari
  • , Lars Terenius
  • , Srinivasa Thirumalai
  • , Johan H Thygesen
  • , Sally Timm
  • , Draga Toncheva
  • , Edwin van den Oord
  • , Jim van Os
  • , Ruud van Winkel
  • , Jan Veldink
  • , Dermot Walsh
  • , August G Wang
  • , Durk Wiersma
  • , Dieter B Wildenauer
  • , Hywel J Williams
  • , Nigel M Williams
  • , Brandon Wormley
  • , Stan Zammit
  • , Patrick F Sullivan
  • , Michael C O'Donovan
  • , Mark J Daly
  •  & Pablo V Gejman

Contributions

The Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (PGC): overall coordination: P.V.G. Coordination of statistical analyses: M.J.D. Coordination of phenotypic analyses: K.S.K. Statistical analyses: S.R., M.J.D., P.A.H., D.-Y.L., S.P., F.D., B.M.N., L.R., P.M.V., D.P., D.M.R. Manuscript preparation: P.V.G. (primary), M.J.D. (primary), A.R.S. (primary), S.R. (primary), M.C.O. (primary), K.S.K., D.F.L., P.S., P.A.H., P.F.S. (primary), D.-Y.L., J.D., R.A.O., O.A.A., E. Scolnick. Phenotypic analyses: K.S.K., A.F., A.C., R.L.A. Stage 1 GWAS sample 1–Cardiff, UK: M.C.O., N.C., P.A.H., M. Hamshere, H.J.W., V. Moskvina, S. Dwyer, L.G., S.Z., M.J.O. Stage 1 GWAS sample 2–Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE): P.F.S., D.-Y.L., E.v.d.O., Y.K., T.S.S., J.A.L. Stage 1 GWAS sample 3–International Schizophrenia Consortium (ISC)–Aberdeen: D.St.C. Stage 1 GWAS sample 4–ISC–Cardiff: G.K.K., M.C.O., P.A.H., L.G., I.N., H.J.W., D.T., V. Milanova, M.J.O. Stage 1 GWAS sample 5–ISC–Dublin: D.W.M., C.T.O., E.K., E.M.Q., M.G., A.C. Stage 1 GWAS sample 6–ISC–Edinburgh: D.H.R.B., K.A.M., B.P., P. Malloy, A.W.M., A. McIntosh. Stage 1 GWAS sample 7–ISC–London: A. McQuillin, K.C., S. Datta, J.P., S. Thirumalai, V.P., R.K., J. Lawrence, D.Q., N.B., H.G. Stage 1 GWAS sample 8–ISC–Portugal: M.T.P., C.N.P., A.F. Stage 1 GWAS sample 9–ISC–SW1–Sweden, stage 1 GWAS sample 10–ISC–SW2–Sweden, stage 2 replication follow-up sample 16–SW3–Sweden, stage 2 replication follow-up sample 17–SW4–Sweden: C.M.H., P.L., S.E.B., S.P., E. Scolnick, P.S., P.F.S. Stage 1 GWAS sample 11–Molecular Genetics of Schizophrenia (MGS): J. Shi, D.F.L., J.D., A.R.S., M.C.K., B.J.M., A.O., F.A., C.R.C., J.M.S., N.G.B., W.FB., D.W.B., K.S.K., R.F., P.V.G. Stage 1 GWAS sample 12–Schizophrenia Genetics Consortium (SGENE)–Bonn: S.C., M. Rietschel, M.M.N., W.M., T.G.S., M. Mattheisen. Stage 1 GWAS sample 13–SGENE–Copenhagen, stage 2 replication follow-up sample 5–SGENE–Copenhagen: T.H., A.I., K.D.J., L.D., G.J., H.B.R., B.G., J.N., S. Timm, L.O., A.G.W., A.F.-J., J.H.T., T.W. Stage 1 GWAS sample 14–SGENE–Munich, stage 2 replication follow-up sample 12–SGENE–Munich, stage 2 replication follow-up sample 13–SGENE–Munich: I.G., A.M.H., H.K., M.F., B.K., P. Muglia, D.R. Stage 1 GWAS sample 15–SGENE–Thematic Organized Psychoses Research 3 (TOP3): S. Djurovic, M. Mattingsdal, I.A., I.M., O.A.A. Stage 1 GWAS sample 16–SGENE–UCLA: R.A.O., R.M.C., N.B.F., R.S.K., D.H.L., J.v.O., D. Wiersma, R.B., W.C., L.d.H., L.K., I.M.-G., E. Strengman. Stage 1 GWAS sample 1–Zucker Hillside A.K.M., T.L.Stage 2 replication follow-up sample –multicenter pedigree P.A.H., B.P.R., A.E.P., M.J.O., D.B.W., P.V.G., B.J.M., C.L., K.S.K., G.N., N.M.W., S.G.S., A.R.S., M. Hansen, D.A.N., J.M., B.W., V.K.L., M.C.O., J.D., M. Albus, M. Alexander, S.G., R.R., K.-Y.L., N.N., W.M., G.P., D. Walsh, M.J., F.A.O., F.B.L., D. Dikeos, J.M.S., D.F.L.Stage 2 replication follow-up sample –SGEN–Aarhus A.D.B., D. Demontis, P.B.M., D.M.H., T.FØ., O.M.Stage 2 replication follow-up sample –SGEN–Aarhus O.M., M.N., A.D.B.Stage 2 replication follow-up sample –SGEN–Belgium R.v.W., G.K., M.D.H., J.V.Stage 2 replication follow-up sample –SGEN–Iceland H.S., S.S., E. Sigurdsson, H.P., K.S.Stage 2 replication follow-up sample –SGEN–England D.A.C.Stage 2 replication follow-up sample –SGEN–Helsinki, stage 2 replication follow-up sample 1–SGEN–Kuusamo L.P., O.P.H.P., J. Suvisaari, J. önnqvist.Stage 2 replication follow-up sample –SGEN–Hungary I.B., J.M.R.Stage 2 replication follow-up sample 1–SGEN–Italy M. Ruggeri, S. Tosato.Stage 2 replication follow-up sample 1–SGEN–Russia V.G.Stage 2 replication follow-up sample 1–SGEN–Sweden E.G.J., I.A., L.T.Stage 2 replication follow-up sample 1–University of Queensland B.J.M., M.A.B., P.A.D., J.J.M., D.E.M.Stage 2 replication follow-up sample 1–Australian Schizophrenia Research Bank B.J.M., V.J.C., R.J.S., S.V.C., F.A.H., A.V.J., C.M.L., P.T.M., C.P., U.S.Stage 2 replication follow-up sample 1–Irish Schizophrenia Genomics Consortium (ISGC) A.C., D.W.M., P.C., B.S.M., C.T.O., G.D., F.A.O., M.G., K.S.K., B.P.R., ISGC (see the Acknowledgments in theSupplementary Not for additional contributors not listed above).Stage 2 replication follow-up sample 1–Wellcome Trust Case Control Consortium 2 (WTCCC2) P.D. (Chair of Management Committee; Data and Analysis Group), C.C.A.S. (Data and Analysis Group; Publications Committee), A.S. (Data and Analysis Group), WTCCC2 (see Acknowledgments in theSupplementary Not for additional contributors not listed above). All authors contributed to the current version of the paper

Corresponding author

Correspondence to Pablo V Gejman.

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Competing interests

Eli Lilly funded portions of the genotyping for CATIE and TOP. P.F.S. received research funding from Eli Lilly in connection with CATIE. T.S.S. received research funding from Eli Lilly and consulting fees from Janssen Pharmaceutica, GlaxoSmithKline and Bristol-Myers Squibb. J.A.L. received research funding from AstraZeneca Pharmaceuticals, Bristol-Myers Squibb, GlaxoSmithKline, Janssen Pharmaceutica and Pfizer and consulting and educational fees from AstraZeneca Pharmaceuticals, Bristol-Myers Squibb, Eli Lilly, Forest Pharmaceuticals, GlaxoSmithKline, Janssen Pharmaceutica, Novartis, Pfizer and Solvay. D.St.C. received research funding from GlaxoSmithKline and Generation Scotland, Genetics Health Initiative. F.A. received funds from Pfizer, Organon and the Foundation for the National Institutes of Health. D.W.B. has received research support from Shire and Forest, has been on the speakers' bureau for Pfizer and has received consulting honoraria from Forest and Jazz. T.W. has received consulting and lecture fees from H. Lundbeck A/S. O.A.A. has received Speaker's honorarium from AstraZeneca, Janssen, Bristol-Myers Squibb and GlaxoSmithKline. I.M. has received a Speaker's honorarium from Janssen and AstraZeneca. A.K.M. has received consulting fees or honoraria from Eli Lilly & Company, Janssen Pharmaceutica, Merck, Bristol-Meyers Squibb, Pfizer, PGxHealth (a division of Clinical Data, Inc.), Roche Diagnostics and Vanda Pharmaceuticals and has received research support from Eli Lilly & Company. T.L. has received consulting fees or honoraria from Merck, Eli Lilly & Company, Golden Helix, Inc., InforMed Insights and PGxHealth (a division of Clinical Data, Inc.). I.B. has been an advisory board member, consultant and lecturer for AstraZeneca, Bristol-Myers Squibb, Eli Lilly, EGIS, Janssen, H. Lundbeck A/S, Novartis, Pfizer, Richter and Schering-Plough and received a grant for an investigator-initiated study from H. Lundbeck A/S. J.J.M. has received consulting and speaker's fees from Johnson & Johnson, Schering-Plough and Eli Lilly. C.P. has received grant support from Janssen-Cilag, Eli Lilly, Hospira (Mayne) and AstraZeneca, provided consultancy to Janssen-Cilag, Eli Lilly, Hospira (Mayne), AstraZeneca, Pfizer and Schering-Plough and has undertaken investigator-initiated studies supported by Eli Lilly, Hospira, Janssen Cilag and AstraZeneca. The Denmark-Aarhus group (The GEMS Stud with principal investigators A.D.B., O.M. and P.B.M.) received research funding from H. Lundbeck A/S. E.G.J. has served as an unpaid consultant for Eli Lilly.

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The Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium. Genome-wide association study identifies five new schizophrenia loci. Nat Genet 43, 969–976 (2011). https://doi.org/10.1038/ng.940

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