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Schizophrenia-associated methylomic variation: molecular signatures of disease and polygenic risk burden across multiple brain regions
Open accessAbstract
Genetic association studies provide evidence for a substantial polygenic component to schizophrenia, although the neurobiological mechanisms underlying the disorder remain largely undefined. Building on recent studies supporting a role for developmentally regulated epigenetic variation in the molecular aetiology of schizophrenia, this study aimed to identify epigenetic variation associated with both a diagnosis of schizophrenia and elevated polygenic risk burden for the disease across multiple brain regions. Genome-wide DNA methylation was quantified in 262 post-mortem brain samples, representing tissue from four brain regions (prefrontal cortex, striatum, hippocampus and cerebellum) from 41 schizophrenia patients and 47 controls. We identified multiple disease-associated and polygenic risk score-associated differentially methylated positions and regions, which are not enriched in genomic regions identified in genetic studies of schizophrenia and do not reflect direct genetic effects on DNA methylation. Our study represents the first analysis of epigenetic variation associated with schizophrenia across multiple brain regions and highlights the utility of polygenic risk scores for identifying molecular pathways associated with aetiological variation in complex disease.
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“These values are comparable to those obtained in other recent large-scale EWAS [49]”
From Sex-specific DNA methylation differences in Alzheimer’s disease pathology (2021) · cites this paper as [49]
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“DNA hypermethylation of DRD2 promoter regions, such as in exon 1 or upstream CpG islands, downregulates receptor expression; on the contrary, hypomethylation increases DRD2 levels thereby altering dopamine sensitivity”
From The clinical use of epigenetics in psychiatry: a narrative review of epigenetic mechanisms, key candidate genes, and precision psychiatry (2025) · cites this paper as [114]
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Pain, O. (2018) · Birkbeck Institutional Research Online (BiRO) - Theses · doi:10.18743/pub.00040326
Алфимова, М. В., Kondratyev, N. V., Golov, A. K., Каледа, В. Г., Abramova, L. I., & Голимбет, В. Е. (2021) · Russian Journal of Genetics · doi:10.1134/s1022795421080019
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Metadata
- Authors
- Viana, J., Hannon, E., Dempster, E., Pidsley, R., Macdonald, R., Knox, O., Spiers, H., Troakes, C., Al-Saraj, S., Turecki, G., Schalkwyk, L. C., & Mill, J.
- Affiliations
- University of Exeter (GB)
- Garvan Institute of Medical Research (AU)
- King's College London (GB)
- McGill University (CA)
- University of Essex (GB)
- Corresponding author
- Mill, Jonathan
- ORCID
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2016-12-22
- Volume
- 26
- Issue
- 1
- Pages
- ddw373
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC5351932
- OpenAlex
- W2563293289
- Cited by
- 105
- References
- 67
- Citations by year
- 2025: 6 · 2024: 14 · 2023: 6 · 2022: 10 · 2021: 19 · 2020: 14 · 2019: 16 · 2018: 11 · 2017: 9
- FWCI
- 6.23
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by
- Locations
- Human Molecular Genetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Open Research Exeter (University of Exeter) (publishedVersion, cc-by)
- Open Access at Essex (University of Essex) (acceptedVersion)
- Figshare (submittedVersion)
- Royal Devon and Exeter Research Repository (Royal Devon and Exeter) (submittedVersion)
- Funders
- Research Councils UK (MR/K013807/1)
- National Institutes of Health
- Medical Research Council (MR/L016397/1, MR/K013807/1, K013807)
- National Institute on Aging (R01AG036039)
- H2020 European Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- schizophrenia, DNA methylation, epigenetics, polygenic risk score, differentially methylated regions, postmortem brain, prefrontal cortex, striatum, hippocampus, cerebellum, complex disease genetics
- MeSH terms
- Adult, Brain, Cadaver, Cerebellum, Corpus Striatum, Female, Hippocampus, Humans, Male, Middle Aged, Risk Factors, Schizophrenia, Biomarkers, Case-Control Studies, Prefrontal Cortex, DNA Methylation, Multifactorial Inheritance, Epigenesis, Genetic
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