Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/117508
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Type: Journal article
Title: Genomic dissection of bipolar disorder and schizophrenia, including 28 subphenotypes
Author: Ruderfer, D.M.
Ripke, S.
McQuillin, A.
Boocock, J.
Stahl, E.A.
Pavlides, J.M.W.
Mullins, N.
Charney, A.W.
Ori, A.P.
Loohuis, L.M.O.
Domenici, E.
Di Florio, A.
Papiol, S.
Kalman, J.L.
Trubetskoy, V.
Adolfsson, R.
Agartz, I.
Agerbo, E.
Akil, H.
Albani, D.
et al.
Citation: Cell, 2018; 173(7):1705-1715.e16
Publisher: Cell Press
Issue Date: 2018
ISSN: 0092-8674
1097-4172
Statement of
Responsibility: 
Douglas M. Ruderfer ... Bernhard T. Baune ... [et al.] (Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium)
Abstract: Schizophrenia 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.
Keywords: Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium. Electronic address: douglas.ruderfer@vanderbilt.edu; Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium; Humans; Odds Ratio; Risk; Case-Control Studies; Bipolar Disorder; Schizophrenia; Multifactorial Inheritance; Phenotype; European Continental Ancestry Group; Genome-Wide Association Study; Genetic Loci
Rights: © 2018 Elsevier Inc.
RMID: 0030101051
DOI: 10.1016/j.cell.2018.05.046
Grant ID: http://purl.org/au-research/grants/nhmrc/1078901
http://purl.org/au-research/grants/nhmrc/1087889
Appears in Collections:Psychiatry publications

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