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

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Fältnamn	Indikatorer	Metadata
000		05089naa a2200853 4500
001		oai:gup.ub.gu.se/279316
003		SwePub
008		240528s2019 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:141238385
024	7	a https://gup.ub.gu.se/publication/2793162 URI
024	7	a https://doi.org/10.1016/j.biopsych.2018.12.0092 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1412383852 URI
040		a (SwePub)gud (SwePub)ki
041		a eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Charney, Alexander W4 aut
245	1 0	a Contribution of Rare Copy Number Variants toBipolar Disorder Risk Is Limited to Schizoaffective Cases.
264	1	b Elsevier BV,c 2019
520		a 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.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Psykiatri0 (SwePub)302152 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Psychiatry0 (SwePub)302152 hsv//eng
700	1	a Stahl, Eli A4 aut
700	1	a Green, Elaine K4 aut
700	1	a Chen, Chia-Yen4 aut
700	1	a Moran, Jennifer Lu Karolinska Institutet4 aut
700	1	a Chambert, Kimberly4 aut
700	1	a Belliveau, Richard A4 aut
700	1	a Forty, Liz4 aut
700	1	a Gordon-Smith, Katherine4 aut
700	1	a Lee, Phil H4 aut
700	1	a Bromet, Evelyn J4 aut
700	1	a Buckley, Peter F4 aut
700	1	a Escamilla, Michael A4 aut
700	1	a Fanous, Ayman H4 aut
700	1	a Fochtmann, Laura J4 aut
700	1	a Lehrer, Douglas S4 aut
700	1	a Malaspina, Dolores4 aut
700	1	a Marder, Stephen R4 aut
700	1	a Morley, Christopher P4 aut
700	1	a Nicolini, Humberto4 aut
700	1	a Perkins, Diana O4 aut
700	1	a Rakofsky, Jeffrey J4 aut
700	1	a Rapaport, Mark H4 aut
700	1	a Medeiros, Helena4 aut
700	1	a Sobell, Janet L4 aut
700	1	a Backlund, Lenau Karolinska Institutet4 aut
700	1	a Bergen, Sarah Eu Karolinska Institutet4 aut
700	1	a Juréus, Anders4 aut
700	1	a Schalling, Martinu Karolinska Institutet4 aut
700	1	a Lichtenstein, Paulu Karolinska Institutet4 aut
700	1	a Knowles, James A4 aut
700	1	a Burdick, Katherine E4 aut
700	1	a Jones, Ian4 aut
700	1	a Jones, Lisa A4 aut
700	1	a Hultman, Christina Mu Karolinska Institutet4 aut
700	1	a Perlis, Roy4 aut
700	1	a Purcell, Shaun M4 aut
700	1	a McCarroll, Steven A4 aut
700	1	a Pato, Carlos N4 aut
700	1	a Pato, Michele T4 aut
700	1	a Di Florio, Ariana4 aut
700	1	a Craddock, Nick4 aut
700	1	a Landén, Mikael,d 1966u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry4 aut0 (Swepub:gu)xlandt
700	1	a Smoller, Jordan W4 aut
700	1	a Ruderfer, Douglas M4 aut
700	1	a Sklar, Pamela4 aut
710	2	a Karolinska Institutetb Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi4 org
773	0	t Biological psychiatryd : Elsevier BVg 86:2, s. 110-119q 86:2<110-119x 1873-2402x 0006-3223
856	4	u https://cdr.lib.unc.edu/downloads/d504rv94j
856	4 8	u https://gup.ub.gu.se/publication/279316
856	4 8	u https://doi.org/10.1016/j.biopsych.2018.12.009
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:141238385

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Av författaren/redakt...: Charney, Alexand ...; Stahl, Eli A; Green, Elaine K; Chen, Chia-Yen; Moran, Jennifer ...; Chambert, Kimber ...; visa fler...; Belliveau, Richa ...; Forty, Liz; Gordon-Smith, Ka ...; Lee, Phil H; Bromet, Evelyn J; Buckley, Peter F; Escamilla, Micha ...; Fanous, Ayman H; Fochtmann, Laura ...; Lehrer, Douglas ...; Malaspina, Dolor ...; Marder, Stephen ...; Morley, Christop ...; Nicolini, Humber ...; Perkins, Diana O; Rakofsky, Jeffre ...; Rapaport, Mark H; Medeiros, Helena; Sobell, Janet L; Backlund, Lena; Bergen, Sarah E; Juréus, Anders; Schalling, Marti ...; Lichtenstein, Pa ...; Knowles, James A; Burdick, Katheri ...; Jones, Ian; Jones, Lisa A; Hultman, Christi ...; Perlis, Roy; Purcell, Shaun M; McCarroll, Steve ...; Pato, Carlos N; Pato, Michele T; Di Florio, Arian ...; Craddock, Nick; Landén, Mikael, ...; Smoller, Jordan ...; Ruderfer, Dougla ...; Sklar, Pamela; visa färre...

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