A neurogenetic model for the study of schizophrenia spectrum disorders: The International 22q11.2 Deletion Syndrome Brain Behavior Consortium

Gur, RE, Bassett, AS, McDonald-McGinn, DM, Bearden, CE, Chow, E, Emanuel, BS, Owen, M, Swillen, A, Van Den Bree, Marianne Bernadette ORCID: https://orcid.org/0000-0002-4426-3254, Vermeesch, J, Vorstman, JAS, Warren, S, Lehner, T, Morrow, B and Niarchou, Maria ORCID: https://orcid.org/0000-0002-8855-7393 2017. A neurogenetic model for the study of schizophrenia spectrum disorders: The International 22q11.2 Deletion Syndrome Brain Behavior Consortium. Molecular Psychiatry 22 , pp. 1664-1672.

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Abstract

Rare copy number variants contribute significantly to the risk for schizophrenia, with the 22q11.2 locus consistently implicated. Individuals with the 22q11.2 deletion syndrome (22q11DS) have an estimated 25-fold increased risk for schizophrenia spectrum disorders, compared to individuals in the general population. The International 22q11DS Brain Behavior Consortium is examining this highly informative neurogenetic syndrome phenotypically and genomically. Here we detail the procedures of the effort to characterize the neuropsychiatric and neurobehavioral phenotypes associated with 22q11DS, focusing on schizophrenia and subthreshold expression of psychosis. The genomic approach includes a combination of whole genome sequencing and genome-wide microarray technologies, allowing the investigation of all possible DNA variation and gene pathways influencing the schizophrenia-relevant phenotypic expression. A phenotypically rich data set provides a psychiatrically well-characterized sample of unprecedented size (n=1,616) that informs the neurobehavioral developmental course of 22q11DS. This combined set of phenotypic and genomic data will enable hypothesis testing to elucidate the mechanisms underlying the pathogenesis of schizophrenia spectrum disorders.

Item Type:	Article
Date Type:	Published Online
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > R Medicine (General)
Publisher:	Nature Publishing Group
ISSN:	1359-4184
Date of First Compliant Deposit:	29 June 2017
Date of Acceptance:	19 June 2017
Last Modified:	07 Nov 2023 21:31
URI:	https://orca.cardiff.ac.uk/id/eprint/101896

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