Genomic and imaging biomarkers in schizophrenia

Reddaway, Jack, Doherty, Joanne L., Lancaster, Thomas ORCID: https://orcid.org/0000-0003-1322-2449, Linden, David ORCID: https://orcid.org/0000-0002-5638-9292, Walters, James T. ORCID: https://orcid.org/0000-0002-6980-4053 and Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009 2018. Genomic and imaging biomarkers in schizophrenia. Current Topics in Behavioral Neurosciences, Berlin and Heidelberg: Springer, pp. 325-352. (10.1007/7854_2018_52)

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Abstract

Recent large-scale genomic studies have confirmed that schizophrenia is a polygenic syndrome and have implicated a number of biological pathways in its aetiology. Both common variants individually of small effect and rarer but more penetrant genetic variants have been shown to play a role in the pathogenesis of the disorder. No simple Mendelian forms of the condition have been identified, but progress has been made in stratifying risk on the basis of the polygenic burden of common variants individually of small effect, and the contribution of rarer variants of larger effect such as Copy Number Variants (CNVs). Pathway analysis of risk-associated variants has begun to identify specific biological processes implicated in risk for the disorder, including elements of the glutamatergic NMDA receptor complex and post synaptic density, voltage-gated calcium channels, targets of the Fragile X Mental Retardation Protein (FMRP targets) and immune pathways. Genetic studies have also been used to drive genomic imaging approaches to the investigation of brain markers associated with risk for the disorder. Genomic imaging approaches have been applied both to investigate the effect of polygenic risk and to study the impact of individual higher-penetrance variants such as CNVs. Both genomic and genomic imaging approaches offer potential for the stratification of patients and at-risk groups and the development of better biomarkers of risk and treatment response; however, further research is needed to integrate this work and realise the full potential of these approaches.

Item Type:	Book Section
Date Type:	Published Online
Status:	Published
Schools:	Medicine Neuroscience and Mental Health Research Institute (NMHRI) MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher:	Springer
ISSN:	1866-3370
Last Modified:	21 Aug 2024 06:06
URI:	https://orca.cardiff.ac.uk/id/eprint/111477

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