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Genomic dissection of bipolar disorder and schizophrenia, including 28 subphenotypes

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dc.contributor.authorRuderfer, D.M.
dc.contributor.authorRipke, S.
dc.contributor.authorMcQuillin, A.
dc.contributor.authorBoocock, J.
dc.contributor.authorStahl, E.A.
dc.contributor.authorPavlides, J.M.W.
dc.contributor.authorMullins, N.
dc.contributor.authorCharney, A.W.
dc.contributor.authorOri, A.P.S.
dc.contributor.authorLoohuis, L.M.O.
dc.contributor.authorDomenici, E.
dc.contributor.authorDi Florio, A.
dc.contributor.authorPapiol, S.
dc.contributor.authorKalman, J.L.
dc.contributor.authorTrubetskoy, V.
dc.contributor.authorAdolfsson, R.
dc.contributor.authorAgartz, I.
dc.contributor.authorAgerbo, E.
dc.contributor.authorAkil, H.
dc.contributor.authorAlbani, D.
dc.contributor.authoret al.
dc.date.issued2018
dc.descriptionData source: Supplementary information, https://doi.org/10.1016/j.cell.2018.05.046
dc.description.abstractSchizophrenia and bipolar disorder are two distinct diagnoses that share symptomology. Understanding the genetic factors contributing to the shared and disorder-specific symptoms will be crucial for improving diagnosis and treatment. In genetic data consisting of 53,555 cases (20,129 bipolar disorder [BD], 33,426 schizophrenia [SCZ]) and 54,065 controls, we identified 114 genome-wide significant loci implicating synaptic and neuronal pathways shared between disorders. Comparing SCZ to BD (23,585 SCZ, 15,270 BD) identified four genomic regions including one with disorder-independent causal variants and potassium ion response genes as contributing to differences in biology between the disorders. Polygenic risk score (PRS) analyses identified several significant correlations within case-only phenotypes including SCZ PRS with psychotic features and age of onset in BD. For the first time, we discover specific loci that distinguish between BD and SCZ and identify polygenic components underlying multiple symptom dimensions. These results point to the utility of genetics to inform symptomology and potential treatment.
dc.description.statementofresponsibilityDouglas M. Ruderfer ... Bernhard T. Baune ... [et al.] (Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium)
dc.identifier.citationCell, 2018; 173(7):1705-1715.e16
dc.identifier.doi10.1016/j.cell.2018.05.046
dc.identifier.issn0092-8674
dc.identifier.issn1097-4172
dc.identifier.orcidBaune, B.T. [0000-0001-6548-426X]
dc.identifier.orcidHoffmann, P. [0000-0002-6573-983X]
dc.identifier.urihttp://hdl.handle.net/2440/117508
dc.language.isoen
dc.publisherCell Press
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1078901
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1087889
dc.rights© 2018 Elsevier Inc.
dc.source.urihttps://doi.org/10.1016/j.cell.2018.05.046
dc.subjectbipolar disorder
dc.subjectpolygenic risk
dc.subjectpsychosis
dc.subjectschizophrenia
dc.subjectsubphenotypes
dc.titleGenomic dissection of bipolar disorder and schizophrenia, including 28 subphenotypes
dc.typeJournal article
pubs.publication-statusPublished

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