Common variant at 16p11.2 conferring risk of psychosis

Steinberg, S. and de Jong, S. and Mattheisen, M. and Costas, J. and Demontis, D. and Jamain, S. and Pietiläinen, O. P. H. and Lin, K. and Papiol, S. and Huttenlocher, J. and Sigurdsson, E. and Vassos, E. and Giegling, I. and Breuer, R. and Fraser, G. and Walker, N. and Melle, I. and Djurovic, S. and Agartz, I. and Tuulio-Henriksson, A. and Suvisaari, J. and Lönnqvist, J. and Paunio, T. and Olsen, L. and Hansen, T. and Ingason, A. and Pirinen, M. and Strengman, E. and Group, and Hougaard, D. M. and Ørntoft, T. and Didriksen, M. and Hollegaard, M. V. and Nordentoft, M. and Abramova, L. and Kaleda, V. and Arrojo, M. and Sanjuán, J. and Arango, C. and Etain, B. and Bellivier, F. and Méary, A. and Schürhoff, F. and Szoke, A. and Ribolsi, M. and Magni, V. and Siracusano, A. and Sperling, S. and Rossner, M. and Christiansen, C. and Kiemeney, L. A. and Franke, B. and van den Berg, L. H. and Veldink, J. and Curran, S. and Bolton, P. and Poot, M. and Staal, W. and Rehnstrom, K. and Kilpinen, H. and Freitag, C. M. and Meyer, J. and Magnusson, P. and Saemundsen, E. and Martsenkovsky, I. and Bikshaieva, I. and Martsenkovska, I. and Vashchenko, O. and Raleva, M. and Paketchieva, K. and Stefanovski, B. and Durmishi, N. and Pejovic Milovancevic, M. and Lecic Tosevski, D. and Silagadze, T. and Naneishvili, N. and Mikeladze, N. and Surguladze, S. and Vincent, J. B. and Farmer, A. and Mitchell, P. B. and Wright, A. and Schofield, P. R. and Fullerton, J. M. and Montgomery, G. W. and Martin, N. G. and Rubino, I. A. and van Winkel, R. and Kenis, G. and De Hert, M. and Réthelyi, J. M. and Bitter, I. and Terenius, L. and Jönsson, E. G. and Bakker, S. and van Os, J. and Jablensky, A. and Leboyer, M. and Bramon, E. and Powell, J. and Murray, R. and Corvin, A. and Gill, M. and Morris, D. and O'Neill, F. A. and Kendler, K. and Riley, B. and Wellcome Trust Case Control Consortium, and Craddock, N. and Owen, M. J. and O'Donovan, M. C. and Thorsteinsdottir, U. and Kong, A. and Ehrenreich, H. and Carracedo, A. and Golimbet, V. and Andreassen, O. A. and Børglum, A. D. and Mors, O. and Mortensen, P. B. and Werge, T. and Ophoff, R. A. and Nöthen, M. M. and Rietschel, M. and Cichon, S. and Ruggeri, M. and Tosato, S. and Palotie, A. and St Clair, D. and Rujescu, D. and Collier, D. A. and Stefansson, H. and Stefansson, K.. (2014) Common variant at 16p11.2 conferring risk of psychosis. Molecular Psychiatry, 19 (1). pp. 108-114.

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Official URL: https://edoc.unibas.ch/61585/

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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 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 7469 bipolar disorder cases, 1535 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]; odds ratio=1.08; P=6.6 x 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 data set; P=0.00047 in 22 651 additional Icelanders).
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Human Genetics (Cichon)
UniBasel Contributors:Cichon, Sven
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:Nature Publishing Group
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:16 Dec 2020 10:08
Deposited On:16 Dec 2020 10:08

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