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Copy number variation and neuropsychiatric illness

Rees, Elliott and Kirov, George 2021. Copy number variation and neuropsychiatric illness. Current Opinion in Genetics and Development 68 , pp. 57-63. 10.1016/j.gde.2021.02.014

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Abstract

Copy number variants (CNVs) at specific loci have been identified as important risk factors for several neuropsychiatric disorders, such as schizophrenia, autism spectrum disorder, intellectual disability (ID) and depression. These CNVs are individually rare (<0.5% frequency), have high effect sizes, and show pleiotropic effects for multiple neuropsychiatric disorders, which implies a shared aetiology. Neuropsychiatric CNVs are also associated with cognitive impairment and other medical morbidities, such as heart defects and obesity. As most neuropsychiatric CNVs are multigenic, it has been challenging to map their effects onto specific biological processes, although gene-set analyses have implicated genes related to the synapse and chromatin regulation. However, future whole-genome sequencing studies have potential for identifying novel single-gene CNV associations, which could provide insights into the pathophysiology underlying neuropsychiatric disorders.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher: Elsevier
ISSN: 0959-437X
Funders: MRC
Date of First Compliant Deposit: 23 March 2021
Date of Acceptance: 26 February 2021
Last Modified: 30 Jan 2022 11:28
URI: https://orca.cardiff.ac.uk/id/eprint/140035

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