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The genetics of bipolar disorder

Molecular Psychiatry volume 25, pages 544–559 (2020)Cite this article

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Abstract

Bipolar disorder (BD) is one of the most heritable mental illnesses, but the elucidation of its genetic basis has proven to be a very challenging endeavor. Genome-Wide Association Studies (GWAS) have transformed our understanding of BD, providing the first reproducible evidence of specific genetic markers and a highly polygenic architecture that overlaps with that of schizophrenia, major depression, and other disorders. Individual GWAS markers appear to confer little risk, but common variants together account for about 25% of the heritability of BD. A few higher-risk associations have also been identified, such as a rare copy number variant on chromosome 16p11.2. Large scale next-generation sequencing studies are actively searching for other alleles that confer substantial risk. As our understanding of the genetics of BD improves, there is growing optimism that some clear biological pathways will emerge, providing a basis for future studies aimed at molecular diagnosis and novel therapeutics.

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Funding

This study was supported by the Intramural Research Program of the NIMH.

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  1. Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Department of Health and Human Services, National Institutes of Health, Bethesda, MD, USA

    Francis James A. Gordovez & Francis J. McMahon

  2. College of Medicine, University of the Philippines Manila, 1000, Ermita, Manila, Philippines

    Francis James A. Gordovez

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  1. Francis James A. Gordovez
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Gordovez, F.J.A., McMahon, F.J. The genetics of bipolar disorder. Mol Psychiatry 25, 544–559 (2020). https://doi.org/10.1038/s41380-019-0634-7

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