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Springer Nature [academic journals on nature.com], Molecular Psychiatry, 1(19), p. 108-114, 2012

DOI: 10.1038/mp.2012.157

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Common Variant at 16p11.2 Conferring Risk of Psychosis

Journal article published in 2012 by Torben Ørntoft, Leonard H. van den Berg, Simone de Jong, Stacy Steinberg, Ruud van Winkel, Jim van Os, S. De Jong, Manuel Mattheisen ORCID, S. de Jong, Javier Costas ORCID, Ditte Demontis, Stéphane Jamain, Pietiläinen Op, Olli P. H. Pietiläinen, Kuang Lin and other authors.
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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 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 × 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).Molecular Psychiatry advance online publication, 20 November 2012; doi:10.1038/mp.2012.157.