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The Role of Genetics in Bipolar Disorder

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Bipolar Disorder: From Neuroscience to Treatment

Part of the book series: Current Topics in Behavioral Neurosciences ((CTBN,volume 48))

Abstract

Bipolar disorder (BP) is a highly heritable disease, with heritability estimated between 60 and 85% by twin studies. The underlying genetic architecture was poorly understood for years since the available technology was limited to the candidate gene approach that did not allow to explore the contribution of multiple loci throughout the genome. BP is a complex disorder, which pathogenesis is influenced by a number of genetic variants, each with small effect size, and environmental exposures. Genome-wide association studies (GWAS) provided meaningful insights into the genetics of BP, including replicated genetic variants, and allowed the development of novel multi-marker methods for gene/pathway analysis and for estimating the genetic overlap between BP and other traits. However, the existing GWAS had also relevant limitations. Notably insufficient statistical power and lack of consideration of rare variants, which may be responsible for the relatively low heritability explained (~20% in the largest GWAS) compared to twin studies. The availability of data from large biobanks and automated phenotyping from electronic health records or digital phenotyping represent key steps for providing samples with adequate power for genetic analysis. Next-generation sequencing is becoming more and more feasible in terms of costs, leading to the rapid growth in the number of samples with whole-genome or whole-exome sequence data. These recent and unprecedented resources are of key importance for a more comprehensive understanding of the specific genetic factors involved in BP and their mechanistic action in determining disease onset and prognosis.

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Authors and Affiliations

  1. Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK

    Chiara Fabbri

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  1. Chiara Fabbri
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Correspondence to Chiara Fabbri .

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Editors and Affiliations

  1. PO72 De Crespigny Park, King’s College London, London, UK

    Allan H. Young

  2. PO72 De Crespigny Park, King’s College London, London, UK

    Mario F. Juruena

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Fabbri, C. (2020). The Role of Genetics in Bipolar Disorder. In: Young, A.H., Juruena, M.F. (eds) Bipolar Disorder: From Neuroscience to Treatment. Current Topics in Behavioral Neurosciences, vol 48. Springer, Cham. https://doi.org/10.1007/7854_2020_153

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