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-HenrikssonJaana 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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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 languageEnglish
Pages (from-to)108-114
Number of pages7
JournalMolecular Psychiatry
Issue number1
Early online date20 Nov 2012
Publication statusPublished - Jan 2014

ASJC Scopus subject areas

  • Molecular Biology
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience

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    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.