Common Variant at 16p11.2 Conferring Risk of Psychosis

Stacy Steinberg; Simone de Jong; Manuel Mattheisen; Javier Costas; Ditte Demontis; Stéphane Jamain; Olli P H Pietiläinen; Kuang Lin; Sergi Papiol; Johanna Huttenlocher; Engilbert Sigurdsson; Evangelos Vassos; Ina Giegling; René Breuer; Gillian Fraser; Nicholas Walker; Ingrid Melle; Srdjan Djurovic; Ingrid Agartz; Annamari Tuulio-Henriksson; Jaana Suvisaari; Jouko Lönnqvist; Tiina Paunio; Line Olsen; Thomas Hansen; Andres Ingason; Matti Pirinen; Eric Strengman; David M Hougaard; Torben Ørntoft; Michael Didriksen; Mads V Hollegaard; Merete Nordentoft; Lilia Abramova; Vasily Kaleda; Manuel Arrojo; Julio Sanjuán; Celso Arango; Bruno Etain; Frank Bellivier; Alexandre Méary; Franck Schürhoff; Andrei Szoke; Michele Ribolsi; Valentina Magni; Alberto Siracusano; Swetlana Sperling; Moritz Rossner; Claus Christiansen; Lambertus A Kiemeney; Barbara Franke; Leonard H van den Berg; Jan Veldink; Sarah Curran; Patrick Bolton; Martin Poot; Wouter Staal; Karola Rehnstrom; Helena Kilpinen; Christine M Freitag; Jobst Meyer; Pall Magnusson; Evald Saemundsen; Igor Martsenkovsky; Iana Bikshaieva; Inna Martsenkovska; Olesya Vashchenko; Marija Raleva; Kamka Paketchieva; Branislav Stefanovski; Naser Durmishi; Milica Pejovic Milovancevic; Dusica Lecic Tosevski; Teimuraz Silagadze; Nino Naneishvili; Nina Mikeladze; Simon Surguladze; John B Vincent; Anne Farmer; Philip B Mitchell; Adam Wright; Peter R Schofield; Janice M Fullerton; Grant W Montgomery; Nicholas G Martin; I Alex Rubino; Ruud van Winkel; Gunter Kenis; Marc De Hert; János M Réthelyi; István Bitter; Lars Terenius; Erik G Jönsson; Steven Bakker; Jim van Os; Assen Jablensky; Marion Leboyer; Elvira Bramon; John Powell; Robin Murray; Aiden Corvin; Michael Gill; Derek Morris; F Anthony O’Neill; Ken Kendler; Brien Riley; Nick Craddock; Michael J Owen; Michael C O’Donovan; Unnur Thorsteinsdottir; Augustine Kong; Hannelore Ehrenreich; Angel Carracedo; Vera Golimbet; Ole A Andreassen; Anders D Børglum; Ole Mors; Preben B Mortensen; Thomas Werge; Roel A Ophoff; Markus M Nöthen; Marcella Rietschel; Sven Cichon; Mirella Ruggeri; Sarah Tosato; Aarno Palotie; David St Clair; Dan Rujescu; David A Collier; Wellcome Trust Case Control Consor; Hreinn Stefansson; Kari Stefansson; Panos Deloukas

doi:10.1038/mp.2012.157

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Common Variant at 16p11.2 Conferring Risk of Psychosis

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Common Variant at 16p11.2 Conferring Risk of Psychosis

Stacy Steinberg, Simone de Jong, Manuel Mattheisen, Javier Costas, Ditte Demontis, Stéphane Jamain, Olli P H Pietiläinen, Kuang Lin, Sergi Papiol, Johanna Huttenlocher, …

Molecular psychiatry, Vol.19(1), pp.108-14

01/01/2014

DOI: https://doi.org/10.1038/mp.2012.157

PMCID: PMC3872086

PMID: 23164818

Abstract

16p11.2

association

bipolar disorder

cross-disorder

schizophrenia

Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association (GWA) study, meta-analysis and follow-up (totaling as many as 18,206 cases and 42,536 controls), we identified four loci showing genome-wide significant association with schizophrenia. Here we consider a mixed schizophrenia and bipolar disorder (psychosis) phenotype (addition of 7,469 bipolar disorder cases, 1,535 schizophrenia cases, 333 other psychosis cases, 808 unaffected family members and 46,160 controls). Combined analysis reveals a novel variant at 16p11.2 showing genome-wide significant association (rs4583255[T], OR = 1.08, P = 6.6 × 10 −11 ). The new variant is located within a 593 kb region that substantially increases risk of psychosis when duplicated. In line with the association of the duplication with reduced body mass index (BMI), rs4583255[T] is also associated with lower BMI ( P = 0.0039 in the public GIANT consortium dataset; P = 0.00047 in 22,651 additional Icelanders).

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Title: Common Variant at 16p11.2 Conferring Risk of Psychosis
Creators - without role: Stacy Steinberg - deCODE Genetics
Simone de Jong - Neurobehavioral Research
Manuel Mattheisen - Brigham and Women's Hospital
Javier Costas - Complejo Hospitalario Universitario de Santiago
Ditte Demontis - Aarhus University
Stéphane Jamain - Fondation FondaMental
Olli P H Pietiläinen - Institute for Molecular Medicine Finland
Kuang Lin - South London and Maudsley NHS Foundation Trust
Sergi Papiol - Nanoscale Microscopy and Molecular Physiology of the Brain Cluster of Excellence 171 — DFG Research Center 103
Johanna Huttenlocher - deCODE Genetics
Engilbert Sigurdsson - National University Hospital of Iceland
Evangelos Vassos - King's College London
Ina Giegling - Ludwig-Maximilians-Universität München
René Breuer - Central Institute of Mental Health
Gillian Fraser - Royal Cornhill Hospital
Nicholas Walker - University of Rome Tor Vergata
Ingrid Melle - Oslo University Hospital
Srdjan Djurovic - Oslo University Hospital
Ingrid Agartz - Oslo University Hospital
Annamari Tuulio-Henriksson - University of Helsinki
Jaana Suvisaari - University of Helsinki
Jouko Lönnqvist - University of Helsinki
Tiina Paunio - Helsinki University Hospital
Line Olsen - University of Rome Tor Vergata
Thomas Hansen - University of Rome Tor Vergata
Andres Ingason - University of Rome Tor Vergata
Matti Pirinen - Wellcome Centre for Human Genetics
Eric Strengman - University Medical Center Utrecht
David M Hougaard - Statens Serum Institut
Torben Ørntoft - Aarhus University Hospital
Michael Didriksen - Lundbeck
Mads V Hollegaard - Statens Serum Institut
Merete Nordentoft - Lundbeck Foundation
Lilia Abramova - Mental Health Research Center of Russian Academy of Medical Sciences
Vasily Kaleda - Mental Health Research Center of Russian Academy of Medical Sciences
Manuel Arrojo - Complejo Hospitalario Universitario de Santiago
Julio Sanjuán - Universitat de València
Celso Arango - Hospital General Universitario Gregorio Marañón
Bruno Etain - Fondation FondaMental
Frank Bellivier - Université Paris-Est Créteil
Alexandre Méary - Fondation FondaMental
Franck Schürhoff - Fondation FondaMental
Andrei Szoke - Fondation FondaMental
Michele Ribolsi - University of Rome Tor Vergata
Valentina Magni - University of Rome Tor Vergata
Alberto Siracusano - University of Rome Tor Vergata
Swetlana Sperling - Max Planck Institute of Experimental Medicine
Moritz Rossner - Nanoscale Microscopy and Molecular Physiology of the Brain Cluster of Excellence 171 — DFG Research Center 103
Claus Christiansen - Nordic Bioscience
Lambertus A Kiemeney - Radboud University Medical Center
Barbara Franke - Radboud University Medical Center
Leonard H van den Berg - University Medical Center Utrecht
Jan Veldink - University Medical Center Utrecht
Sarah Curran - King's College London
Patrick Bolton - King's College London
Martin Poot - University Medical Center Utrecht
Wouter Staal - Radboud University Nijmegen
Karola Rehnstrom - Wellcome Sanger Institute
Helena Kilpinen - Institute for Molecular Medicine Finland
Christine M Freitag - University of Rome Tor Vergata
Jobst Meyer - Universität Trier
Pall Magnusson - National University Hospital of Iceland
Evald Saemundsen - Icelandic Heart Association
Igor Martsenkovsky - University of Rome Tor Vergata
Iana Bikshaieva - University of Rome Tor Vergata
Inna Martsenkovska - University of Rome Tor Vergata
Olesya Vashchenko - University of Rome Tor Vergata
Marija Raleva - University of Rome Tor Vergata
Kamka Paketchieva - University of Rome Tor Vergata
Branislav Stefanovski - University of Rome Tor Vergata
Naser Durmishi - University of Rome Tor Vergata
Milica Pejovic Milovancevic - Institute of Mental Health
Dusica Lecic Tosevski - Institute of Mental Health
Teimuraz Silagadze - Tbilisi State Medical University
Nino Naneishvili - Tbilisi State Medical University
Nina Mikeladze - Tbilisi State Medical University
Simon Surguladze - Ilia State University
John B Vincent - Centre for Addiction and Mental Health
Anne Farmer - King's College London
Philip B Mitchell - UNSW Sydney
Adam Wright - Black Dog Institute
Peter R Schofield - Neuroscience Research Australia
Janice M Fullerton - Neuroscience Research Australia
Grant W Montgomery - QIMR Berghofer Medical Research Institute
Nicholas G Martin - QIMR Berghofer Medical Research Institute
I Alex Rubino - University of Rome Tor Vergata
Ruud van Winkel - European Graduate School of Neuroscience
Gunter Kenis - European Graduate School of Neuroscience
Marc De Hert - University of Rome Tor Vergata
János M Réthelyi - Semmelweis University
István Bitter - Semmelweis University
Lars Terenius - Karolinska Institutet
Erik G Jönsson - Karolinska Institutet
Steven Bakker - University Medical Center Utrecht
Jim van Os - Maastricht University Medical Centre
Assen Jablensky - University of Western Australia
Marion Leboyer - Fondation FondaMental
Elvira Bramon - University College London
John Powell - South London and Maudsley NHS Foundation Trust
Robin Murray - King's College London
Aiden Corvin - University of Rome Tor Vergata
Michael Gill - University of Rome Tor Vergata
Derek Morris - University of Rome Tor Vergata
F Anthony O’Neill - University of Rome Tor Vergata
Ken Kendler - University of Rome Tor Vergata
Brien Riley - University of Rome Tor Vergata
Nick Craddock - University of Rome Tor Vergata
Michael J Owen - University of Rome Tor Vergata
Michael C O’Donovan - University of Rome Tor Vergata
Unnur Thorsteinsdottir - University of Rome Tor Vergata
Augustine Kong - University of Rome Tor Vergata
Hannelore Ehrenreich - University of Rome Tor Vergata
Angel Carracedo - University of Rome Tor Vergata
Vera Golimbet - University of Rome Tor Vergata
Ole A Andreassen - University of Rome Tor Vergata
Anders D Børglum - University of Rome Tor Vergata
Ole Mors - University of Rome Tor Vergata
Preben B Mortensen - University of Rome Tor Vergata
Thomas Werge - University of Rome Tor Vergata
Roel A Ophoff - University of Rome Tor Vergata
Markus M Nöthen - University of Rome Tor Vergata
Marcella Rietschel - University of Rome Tor Vergata
Sven Cichon - University of Rome Tor Vergata
Mirella Ruggeri - University of Rome Tor Vergata
Sarah Tosato - University of Rome Tor Vergata
Aarno Palotie - University of Rome Tor Vergata
David St Clair - University of Rome Tor Vergata
Dan Rujescu - University of Rome Tor Vergata
David A Collier - University of Rome Tor Vergata
Wellcome Trust Case Control Consor
Hreinn Stefansson - University of Rome Tor Vergata
Kari Stefansson - University of Rome Tor Vergata
Panos Deloukas - King Abdulaziz University
Publication Details: Molecular psychiatry, Vol.19(1), pp.108-14
Grant note: 098051 || WT / Wellcome Trust :
Identifiers: 9935367908331
Academic Unit: King Abdulaziz University
Language: English
Resource Type: Journal article