The DOI matches its Crossref record; 77 of the 77 references it cites were found in a registry or an index.
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].”
From Distinct sex-specific DNA methylation differences in Alzheimer’s disease (2022) · cites this paper as [18]
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Epigenetic programming by maternal behavior
Weaver, I. C. G., Cervoni, N., Champagne, F. A., D'Alessio, A. C., Sharma, S., Seckl, J. R., Dymov, S., Szyf, M., & Meaney, M. J. (2004) · Nature Neuroscience · doi:10.1038/nn1276 · Cited by 6,177
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990
Epigenetic differences arise during the lifetime of monozygotic twins
Fraga, M. F., Ballestar, E., Paz, M. F., Ropero, S., Setien, F., Ballestar, M. L., Heine-Suñer, D., Cigudosa, J. C., Urioste, M., Benitez, J., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0500398102 · Cited by 3,602
Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795
Transcriptomic Analysis of Autistic Brain Reveals Convergent Molecular Pathology
Voineagu, I., Wang, X., Johnston, P., Lowe, J. K., Tian, Y., Horvath, S., Mill, J., Cantor, R. M., Blencowe, B. J., & Geschwind, D. H. (2011) · Nature · doi:10.1038/nature10110 · Cited by 1,874 · cited 1×
“A recent comprehensive study confirmed that there were differences between autistic and control brains in the expression levels of genes encoding synaptic proteins and proteins related to inflammation [12].”
BackgroundMeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
Chahrour, M., Jung, S. Y., Shaw, C., Zhou, X., Wong, S. T. C., Qin, J., & Zoghbi, H. Y. (2008) · Science · doi:10.1126/science.1153252 · Cited by 1,823
Sustained hippocampal chromatin regulation in a mouse model of depression and antidepressant action
Tsankova, N. M., Berton, O., Renthal, W., Kumar, A., Neve, R. L., & Nestler, E. J. (2006) · Nature Neuroscience · doi:10.1038/nn1659 · Cited by 1,780
Phenotypic plasticity and the epigenetics of human disease
Feinberg, A. P. (2007) · Nature · doi:10.1038/nature05919 · Cited by 1,613
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
Guy, J., Hendrich, B., Holmes, M., Martin, J. E., & Bird, A. (2001) · Nature Genetics · doi:10.1038/85899 · Cited by 1,558
Cited by
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Neural Mechanisms of Stress Resilience and Vulnerability
Franklin, T. B., Saab, B. J., & Mansuy, I. M. (2012) · Neuron · doi:10.1016/j.neuron.2012.08.016 · Cited by 500
Histone Acetylome-wide Association Study of Autism Spectrum Disorder
Sun, W., Poschmann, J., Cruz-Herrera del Rosario, R., Parikshak, N. N., Hajan, H. S., Kumar, V., Ramasamy, R., Belgard, T. G., Elanggovan, B., Wong, C. C. Y., et al. (2016) · Cell · doi:10.1016/j.cell.2016.10.031 · Cited by 306
Epigenetic regulation and chromatin remodeling in learning and memory
Kim, S., & Kaang, B. (2017) · Experimental & Molecular Medicine · doi:10.1038/emm.2016.140 · Cited by 217
Autism Spectrum Disorder: Focus on Glutamatergic Neurotransmission
Montanari, M., Martella, G., Bonsi, P., & Meringolo, M. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23073861 · Cited by 114
Epigenetics and Autism Spectrum Disorder: Is There a Correlation?
Eshraghi, A. A., Liu, C., Kay, S.-I. S., Eshraghi, R. S., Mittal, J., Moshiree, B., & Mittal, R. (2018) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2018.00078 · Cited by 100
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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