ArticleThe Journal of clinical investigation2015
The cortical thickness phenotype of individuals with DISC1 translocation resembles schizophrenia.
Article in The Journal of clinical investigation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Functional brain defects in a mouse model of a chromosomal t(1;11) translocation that disrupts DISC1 and confers increased risk of psychiatric illness.Translational psychiatry · 2021Article
- Altered expression of the DISC1 gene in peripheral blood of patients with schizophrenia.BMC medical genetics · 2020Article
- Familial t(1;11) translocation is associated with disruption of white matter structural integrity and oligodendrocyte-myelin dysfunction.Molecular psychiatry · 2019Article
- Preclinical neuroimaging of gene-environment interactions in psychiatric disease.The British journal of radiology · 2019Review
- Predicting major mental illness: ethical and practical considerations.BJPsych open · 2019Article
- Sex-specific deficits in neurite density and white matter integrity are associated with targeted disruption of exon 2 of the Disc1 gene in the rat.Translational psychiatry · 2019Article
- DNA sequence-level analyses reveal potential phenotypic modifiers in a large family with psychiatric disorders.Molecular psychiatry · 2018Article
- Convergence of independent DISC1 mutations on impaired neurite growth via decreased UNC5D expression.Translational psychiatry · 2018Article
- Shared effects of DISC1 disruption and elevated WNT signaling in human cerebral organoids.Translational psychiatry · 2018Article
- Altered DNA methylation associated with a translocation linked to major mental illness.NPJ schizophrenia · 2018Article
- Associations between polygenic risk scores for four psychiatric illnesses and brain structure using multivariate pattern recognition.NeuroImage. Clinical · 2018Article
- Expression of mutant DISC1 in Purkinje cells increases their spontaneous activity and impairs cognitive and social behaviors in mice.Neurobiology of disease · 2017Article
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11 authors.
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Abstract
backgroundThe disrupted in schizophrenia 1 (DISC1) gene locus was originally identified in a Scottish pedigree with a high incidence of psychiatric disorders that is associated with a balanced t(1;11)(q42.1;q14.3) chromosomal translocation. Here, we investigated whether members of this family carrying the t(1;11)(q42.1;q14.3) translocation have a common brain-related phenotype and whether this phenotype is similar to that observed in schizophrenia (SCZ), using multivariate pattern recognition techniques.
methodsWe measured cortical thickness, cortical surface area, subcortical volumes, and regional cerebral blood flow (rCBF) in healthy controls (HC) (n = 24), patients diagnosed with SCZ (n = 24), patients diagnosed with bipolar disorder (BP) (n = 19), and members of the original Scottish family (n = 30) who were either carriers (T+) or noncarriers (T-) of the DISC1 translocation. Binary classification models were developed to assess the differences and similarities across groups.
resultsBased on cortical thickness, 72% of the T- group were assigned to the HC group, 83% of the T+ group were assigned to the SCZ group, and 45% of the BP group were classified as belonging to the SCZ group, suggesting high specificity of this measurement in predicting brain-related phenotypes. Shared brain-related phenotypes between SCZ and T+ individuals were found for cortical thickness only. Finally, a classification accuracy of 73% was achieved when directly comparing the pattern of cortical thickness of T+ and T- individuals.
conclusionTogether, the results of this study suggest that the DISC1 translocation may increase the risk of psychiatric disorders in this pedigree by affecting neurostructural phenotypes such as cortical thickness.
fundingThis work was supported by the National Health Service Research Scotland, the Scottish Translational Medicine Research Collaboration, the Innovative Medicines Initiative (IMI), the Engineering and Physical Sciences Research Council (EPSRC), The Wellcome Trust, the National Institute of Health Research (NIHR), and Pfizer.
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