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Genomic and Imaging Biomarkers in Schizophrenia

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Biomarkers in Psychiatry

Part of the book series: Current Topics in Behavioral Neurosciences ((CTBN,volume 40))

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.

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Authors and Affiliations

  1. Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, UK

    J. T. Reddaway, J. L. Doherty, T. Lancaster, D. Linden & J. Hall

  2. Cardiff University Brain Research Imaging Centre, School of Psychology, Cardiff University, Cardiff, UK

    J. L. Doherty, T. Lancaster & D. Linden

  3. MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff School of Medicine, Cardiff University, Cardiff, UK

    T. Lancaster, D. Linden, J. T. Walters & J. Hall

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  1. J. T. Reddaway
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  2. J. L. Doherty
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  3. T. Lancaster
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  4. D. Linden
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  5. J. T. Walters
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  6. J. Hall
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Correspondence to J. Hall .

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  1. Strathclyde Institute of Pharmacy and Biomedical Science, University of Strathclyde, Glasgow, UK

    Judith Pratt

  2. College of Biomedical and Life Sciences, Cardiff University, Cardiff, UK

    Jeremy Hall

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Reddaway, J.T., Doherty, J.L., Lancaster, T., Linden, D., Walters, J.T., Hall, J. (2018). Genomic and Imaging Biomarkers in Schizophrenia. In: Pratt, J., Hall, J. (eds) Biomarkers in Psychiatry. Current Topics in Behavioral Neurosciences, vol 40. Springer, Cham. https://doi.org/10.1007/7854_2018_52

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