The implications of the shared genetics of psychiatric disorders
Abstract
Recent genomic studies have revealed the highly polygenic nature of psychiatric disorders, including schizophrenia, bipolar disorder and major depressive disorder. Many of the individual genetic associations are shared across multiple disorders in a way that points to extensive biological pleiotropy and further challenges the biological validity of existing diagnostic approaches. Here we argue that the existence of risk alleles specific to a single diagnostic category is unlikely. We also highlight some of the important clinical repercussions of pleiotropy.
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Pathogenic variants in the same genes are identified in individuals with a variety of different clinically defined brain disorders, including ASD, ID, epilepsy, schizophrenia, and other neurodevelopmental and neuropsychiatric conditions.
“It has also become clear that pathogenic variants in the same genes are identified in individuals with a variety of different clinically defined brain disorders, including ASD, intellectual disability (ID), epilepsy, schizophrenia, and other neurodevelopmental and neuropsychiatric conditions.”
From Insufficient Evidence for “Autism-Specific” Genes (2020) · cites this paper as [6]
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- Authors
- O'Donovan, M. C., & Owen, M. J.
- Affiliations
- Cardiff University (GB)
- ORCID
- Owen, Michael J
- Venue
- Nature Medicine
- Published
- 2016-10-26
- Volume
- 22
- Issue
- 11
- Pages
- 1214-1219
- ISSN
- 1078-8956 (ISSN-L)
- 1546-170X
- OpenAlex
- W2528449659
- Cited by
- 157
- References
- 43
- Citations by year
- 2026: 7 · 2025: 11 · 2024: 14 · 2023: 8 · 2022: 15 · 2021: 16 · 2020: 19 · 2019: 28 · 2018: 19 · 2017: 19
- FWCI
- 17.75
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Nature Medicine (publishedVersion)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Funders
- Medical Research Council (MR/L010305/1)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Health Sciences › Medicine › Psychiatry and Mental health › Bipolar Disorder and Treatment
- Keywords
- shared genetic loci, mental illness, pleiotropy, schizophrenia, bipolar disorder, major depressive disorder, genetic association, diagnostic validity, psychiatric genetics
- MeSH terms
- Autism Spectrum Disorder, Alleles, Mental Disorders, Bipolar Disorder, Major Depressive Disorder, Humans, Schizophrenia, Genetic Predisposition to Disease, Genetic Pleiotropy
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