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dc.contributor.authorCharney, Alexander
dc.contributor.authorStahl, Eli
dc.contributor.authorGreen, Elaine
dc.date.accessioned2020-12-17T15:25:27Z
dc.date.available2020-12-17T15:25:27Z
dc.date.issued2018-12-20
dc.identifier.citationCharney, A.W., Stahl, E., Green, E., Chen, C., Moran, J.L., Chambert, K., Belliveau, R., Forty, L., Gordon-Smith, Katherine , Lee, P., Bromet, E.J., Buckley, P.F., Escamilla, M.A., Fanous, A., Fochtmann, L.J., Lehrer, D.S., Malaspina, D., Marder, S.R., Morley, C.P., Nicolini, H., Perkins, P., Rakofsky, J.J., Rapaport, M.H., Medeiros, H., Sobell, J., Backlund, L., Bergen, S.E., Juréus, A., Schalling, M., Lichtenstein, P., Knowles, J.A., Burdick, K., Jones, I., Jones, Lisa , Hultman, C., Perlis, R., Purcell, P., McCarroll, S.A., Pato, C., Pato, M., Di Florio, A., Craddock, N., Landén, M., Smoller, J., Ruderfer, D.M. and Sklar, P. (2019) Contribution of Rare Copy Number Variants to Bipolar Disorder Risk is Limited to Schizoaffective Cases. Biological Psychiatry, 86 (2). pp. 110-119.en_US
dc.identifier.issn0006-3223
dc.identifier.urihttp://hdl.handle.net/10369/11250
dc.descriptionArticle published in Biological Psychiatry available at https://doi.org/10.1016/j.biopsych.2018.12.009en_US
dc.description.abstractBackground 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. Methods 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. Results 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. Conclusions 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.en_US
dc.language.isoenen_US
dc.publisherElsevieren_US
dc.relation.ispartofseriesBiological Psychiatry;
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/uk/
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/uk/
dc.titleContribution of Rare Copy Number Variants to Bipolar Disorder Risk Is Limited to Schizoaffective Casesen_US
dc.typeArticleen_US
dc.typeacceptedVersion
dc.identifier.doihttps://doi.org/10.1016/j.biopsych.2018.12.009
dcterms.dateAccepted2018-12-12
rioxxterms.versionAMen_US
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/uk/
dc.refexceptionAt the point of acceptance, the staff member to whom the output is attributed was employed at a different UK HEI
dc.date.refFCD2020-12-17


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