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Epigenetic understanding of gene-environment interactions in psychiatric disorders: a new concept of clinical genetics
Open accessAbstract
Epigenetics is a mechanism that regulates gene expression independently of the underlying DNA sequence, relying instead on the chemical modification of DNA and histone proteins. Although environmental and genetic factors were thought to be independently associated with disorders, several recent lines of evidence suggest that epigenetics bridges these two factors. Epigenetic gene regulation is essential for normal development, thus defects in epigenetics cause various rare congenital diseases. Because epigenetics is a reversible system that can be affected by various environmental factors, such as drugs, nutrition, and mental stress, the epigenetic disorders also include common diseases induced by environmental factors. In this review, we discuss the nature of epigenetic disorders, particularly psychiatric disorders, on the basis of recent findings: 1) susceptibility of the conditions to environmental factors, 2) treatment by taking advantage of their reversible nature, and 3) transgenerational inheritance of epigenetic changes, that is, acquired adaptive epigenetic changes that are passed on to offspring. These recently discovered aspects of epigenetics provide a new concept of clinical genetics.
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![Figure 1 Genetic and epigenetic understanding of autism. Either de novo mutations in synaptic genes, congenital abnormalities of epigenetic control (for example, Rett syndrome), or acquired alterations of epigenetic control induced by various environmental factors can lead to synaptic dysfunction and resultin autism. Besides this category of 'synaptic autism', the categories of 'inflammatory autism' and 'splicing autism' are proposed [15].](/paper-figures/aad762e12a3d4a6eb1224cf108846234/epigenetic-understanding-of-gene-environment-interactions-in-psychiatric-figure-1.jpg)

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“DNA methylation (DNAm) is an epigenetic mechanism that regulates gene expression without altering DNA sequence”
From Distinct sex-specific DNA methylation differences in Alzheimer’s disease (2022) · cites this paper as [18]
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“and it is susceptible to environmental factors that modify the risk of diseases [18].”
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Additional file 1 of Distinct sex-specific DNA methylation differences in Alzheimer’s disease
C. Silva, T., Zhang, W., Young, J. I., Gomez, L., Schmidt, M. A., Varma, A., Chen, X. S., Martin, E. R., & Wang, L. (2022) · Figshare · doi:10.6084/m9.figshare.21129953
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Metadata
- Authors
- Kubota, T., Miyake, K., & Hirasawa, T.
- Affiliations
- University of Yamanashi (JP)
- Corresponding author
- Kubota, Takeo
- ORCID
- Miyake, Kunio
- Venue
- Clinical Epigenetics
- Published
- 2012-01-20
- Volume
- 4
- Issue
- 1
- Pages
- 1-1
- ISSN
- 1868-7075 (ISSN-L)
- 1868-7083
- PMC
- PMC3305338
- OpenAlex
- W2156106199
- Cited by
- 157
- References
- 77
- Citations by year
- 2026: 2 · 2025: 11 · 2024: 7 · 2023: 15 · 2022: 12 · 2021: 16 · 2020: 14 · 2019: 12 · 2018: 11 · 2017: 14 · 2016: 7 · 2015: 8 · 2014: 14 · 2013: 11 · 2012: 3
- FWCI
- 4.63
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Clinical Epigenetics (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Funders
- Ministry of Education, Culture, Sports, Science and Technology
- Japan Society for the Promotion of Science (23791156, 24659437, 23390272, 23591491, 23659519)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Keywords
- epigenetics, gene-environment interaction, mental illness, epigenetic disorders, DNA methylation, histone modifications, environmental factors, transgenerational epigenetic inheritance, medical genetics, epigenetic therapy
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