Common variant at 16p11.2 conferring risk of psychosis

Stacey Steinberg; Simone de Jong; Manuel Mattheisen; Javier Costas; Ditte Demontis; Stephanie Jamain; Olli P. H. Pietiläinen; Kuang Lin; Sergi Papiol; Johanna Huttenlocher; Engilbert Sigurdsson; Evangelos Vassos; Ina Giegling; Rene 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 Orntoft; 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; F A O'Neill; GROUP

doi:10.1038/mp.2012.157

Common variant at 16p11.2 conferring risk of psychosis

Stacey Steinberg
, Simone de Jong
, Manuel Mattheisen
, Javier Costas
, Ditte Demontis
, Stephanie Jamain
, Olli P. H. Pietiläinen
, Kuang Lin
, Sergi Papiol
, Johanna Huttenlocher
, Engilbert Sigurdsson
, Evangelos Vassos
, Ina Giegling
, Rene 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 Orntoft, 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, F A O'Neill, GROUP

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Abstract

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).

Original language	English
Pages (from-to)	108-114
Number of pages	7
Journal	Molecular Psychiatry
Volume	19
Issue number	1
Early online date	20 Nov 2012
DOIs	https://doi.org/10.1038/mp.2012.157
Publication status	Published - Jan 2014

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This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

ASJC Scopus subject areas

Molecular Biology
Psychiatry and Mental health
Cellular and Molecular Neuroscience

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10.1038/mp.2012.157

Francis O'Neill
- tony.oneillqub.acuk
Person: Academic

Cite this

Steinberg, S., de Jong, S., Mattheisen, M., Costas, J., Demontis, D., Jamain, S., Pietiläinen, O. P. H., Lin, K., Papiol, S., Huttenlocher, J., Sigurdsson, E., Vassos, E., Giegling, I., Breuer, R., Fraser, G., Walker, N., Melle, I., Djurovic, S., Agartz, I., ... GROUP (2014). Common variant at 16p11.2 conferring risk of psychosis. Molecular Psychiatry, 19(1), 108-114. https://doi.org/10.1038/mp.2012.157

@article{49502472210d475f91b541ed9f7bf9ec,

title = "Common variant at 16p11.2 conferring risk of psychosis",

abstract = "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).",

author = "Stacey Steinberg and \{de Jong\}, Simone and Manuel Mattheisen and Javier Costas and Ditte Demontis and Stephanie Jamain and Pietil{\"a}inen, \{Olli P. H.\} and Kuang Lin and Sergi Papiol and Johanna Huttenlocher and Engilbert Sigurdsson and Evangelos Vassos and Ina Giegling and Rene Breuer and Gillian Fraser and Nicholas Walker and Ingrid Melle and Srdjan Djurovic and Ingrid Agartz and Annamari Tuulio-Henriksson and Jaana Suvisaari and Jouko L{\"o}nnqvist and Tiina Paunio and Line Olsen and Thomas Hansen and Andres Ingason and Matti Pirinen and Eric Strengman and Hougaard, \{David M.\} and Torben Orntoft and Michael Didriksen and Hollegaard, \{Mads V.\} and Merete Nordentoft and Lilia Abramova and Vasily Kaleda and Manuel Arrojo and Julio Sanju{\'a}n and Celso Arango and Bruno Etain and Frank Bellivier and Alexandre M{\'e}ary and Franck Sch{\"u}rhoff and Andrei Szoke and Michele Ribolsi and Valentina Magni and Alberto Siracusano and Swetlana Sperling and Moritz Rossner and Claus Christiansen and O'Neill, \{F A\} and GROUP",

year = "2014",

month = jan,

doi = "10.1038/mp.2012.157",

language = "English",

volume = "19",

pages = "108--114",

journal = "Molecular Psychiatry",

issn = "1359-4184",

publisher = "Springer Nature",

number = "1",

}

Steinberg, S, de Jong, S, Mattheisen, M, Costas, J, Demontis, D, Jamain, S, Pietiläinen, OPH, Lin, K, Papiol, S, Huttenlocher, J, Sigurdsson, E, Vassos, E, Giegling, I, Breuer, R, Fraser, G, Walker, N, Melle, I, Djurovic, S, Agartz, I, Tuulio-Henriksson, A, Suvisaari, J, Lönnqvist, J, Paunio, T, Olsen, L, Hansen, T, Ingason, A, Pirinen, M, Strengman, E, Hougaard, DM, Orntoft, T, Didriksen, M, Hollegaard, MV, Nordentoft, M, Abramova, L, Kaleda, V, Arrojo, M, Sanjuán, J, Arango, C, Etain, B, Bellivier, F, Méary, A, Schürhoff, F, Szoke, A, Ribolsi, M, Magni, V, Siracusano, A, Sperling, S, Rossner, M, Christiansen, C, O'Neill, FA & GROUP 2014, 'Common variant at 16p11.2 conferring risk of psychosis', Molecular Psychiatry, vol. 19, no. 1, pp. 108-114. https://doi.org/10.1038/mp.2012.157

TY - JOUR

T1 - Common variant at 16p11.2 conferring risk of psychosis

AU - Steinberg, Stacey

AU - de Jong, Simone

AU - Mattheisen, Manuel

AU - Costas, Javier

AU - Demontis, Ditte

AU - Jamain, Stephanie

AU - Pietiläinen, Olli P. H.

AU - Lin, Kuang

AU - Papiol, Sergi

AU - Huttenlocher, Johanna

AU - Sigurdsson, Engilbert

AU - Vassos, Evangelos

AU - Giegling, Ina

AU - Breuer, Rene

AU - Fraser, Gillian

AU - Walker, Nicholas

AU - Melle, Ingrid

AU - Djurovic, Srdjan

AU - Agartz, Ingrid

AU - Tuulio-Henriksson, Annamari

AU - Suvisaari, Jaana

AU - Lönnqvist, Jouko

AU - Paunio, Tiina

AU - Olsen, Line

AU - Hansen, Thomas

AU - Ingason, Andres

AU - Pirinen, Matti

AU - Strengman, Eric

AU - Hougaard, David M.

AU - Orntoft, Torben

AU - Didriksen, Michael

AU - Hollegaard, Mads V.

AU - Nordentoft, Merete

AU - Abramova, Lilia

AU - Kaleda, Vasily

AU - Arrojo, Manuel

AU - Sanjuán, Julio

AU - Arango, Celso

AU - Etain, Bruno

AU - Bellivier, Frank

AU - Méary, Alexandre

AU - Schürhoff, Franck

AU - Szoke, Andrei

AU - Ribolsi, Michele

AU - Magni, Valentina

AU - Siracusano, Alberto

AU - Sperling, Swetlana

AU - Rossner, Moritz

AU - Christiansen, Claus

AU - O'Neill, F A

AU - GROUP

PY - 2014/1

Y1 - 2014/1

N2 - 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).

AB - 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).

U2 - 10.1038/mp.2012.157

DO - 10.1038/mp.2012.157

M3 - Article

C2 - 23164818

SN - 1359-4184

VL - 19

SP - 108

EP - 114

JO - Molecular Psychiatry

JF - Molecular Psychiatry

IS - 1

ER -

Common variant at 16p11.2 conferring risk of psychosis

Abstract

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Francis O'Neill

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