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Contribution of Rare Copy Number Variants to Bipolar Disorder Risk Is Limited to Schizoaffective Cases.

Journal article
Authors Alexander W Charney
Eli A Stahl
Elaine K Green
Chia-Yen Chen
Jennifer L Moran
Kimberly Chambert
Richard A Belliveau
Liz Forty
Katherine Gordon-Smith
Phil H Lee
Evelyn J Bromet
Peter F Buckley
Michael A Escamilla
Ayman H Fanous
Laura J Fochtmann
Douglas S Lehrer
Dolores Malaspina
Stephen R Marder
Christopher P Morley
Humberto Nicolini
Diana O Perkins
Jeffrey J Rakofsky
Mark H Rapaport
Helena Medeiros
Janet L Sobell
Lena Backlund
Sarah E Bergen
Anders Juréus
Martin Schalling
Paul Lichtenstein
James A Knowles
Katherine E Burdick
Ian Jones
Lisa A Jones
Christina M Hultman
Roy Perlis
Shaun M Purcell
Steven A McCarroll
Carlos N Pato
Michele T Pato
Ariana Di Florio
Nick Craddock
Mikael Landén
Jordan W Smoller
Douglas M Ruderfer
Pamela Sklar
Published in Biological psychiatry
Volume 86
Issue 2
Pages 110-119
ISSN 1873-2402
Publication year 2019
Published at Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Pages 110-119
Language en
Subject categories Psychiatry


Genetic risk for bipolar disorder (BD) is conferred through many common alleles, while a role for rare copy number variants (CNVs) is less clear. Subtypes of BD including schizoaffective disorder bipolar type (SAB), bipolar I disorder (BD I), and bipolar II disorder (BD II) differ according to the prominence and timing of psychosis, mania, and depression. The genetic factors contributing to the combination of symptoms among these subtypes are poorly understood.Rare large CNVs were analyzed in 6353 BD cases (3833 BD I [2676 with psychosis, 850 without psychosis, and 307 with unknown psychosis history], 1436 BD II, 579 SAB, and 505 BD not otherwise specified) and 8656 controls. CNV burden and a polygenic risk score (PRS) for schizophrenia were used to evaluate the relative contributions of rare and common variants to risk of BD, BD subtypes, and psychosis.CNV burden did not differ between BD and controls when treated as a single diagnostic entity. However, burden in SAB was increased relative to controls (p = .001), BD I (p = .0003), and BD II (p = .0007). Burden and schizophrenia PRSs were increased in SAB compared with BD I with psychosis (CNV p = .0007, PRS p = .004), and BD I without psychosis (CNV p = .0004, PRS p = 3.9 × 10-5). Within BD I, psychosis was associated with increased schizophrenia PRSs (p = .005) but not CNV burden.CNV burden in BD is limited to SAB. Rare and common genetic variants may contribute differently to risk for psychosis and perhaps other classes of psychiatric symptoms.

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