Prospects for epigenetic research within cohort studies of psychological disorder: A pilot investigation of a peripheral cell marker of epigenetic risk for depression
Abstract
Cohort studies have considerable prima facie value for investigating epigenetic processes in psychological disorder; however, the future prospects for such studies will depend on valid peripheral markers. The purpose of this pilot study was to investigate association between buccal cell methylation and risk for depression. Epigenotyping was limited to promoter methylation of the serotonin transporter gene (5HTT). A transcription limiting VNTR in the 5HTT promoter (5HTTLPR) was also genotyped. A nested sample of 25 depressed and 125 non-depressed adolescents was drawn from an established longitudinal study of adolescent health. There was no association between depressive symptoms and either buccal cell 5HTT methylation or 5HTTLPR. However, depressive symptoms were more common among those with elevated buccal cell 5HTT methylation who carried 5HTTLPR short-allele (OR 4.9, CI 1.9-13, p=0.001). Both complete and partial (as little as 10%) methylation of a 5HTT reporter gene in an expressing cell line reduced 5HTT activity. Replication is needed.
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Unbiased genome-wide studies using peripheral blood have reported epigenetic alterations in genes predominantly unassociated with established candidate genes such as SLC6A4 and BDNF.
“Unbiased, genome-wide studies using peripheral blood have reported epigenetic alterations in genes predominantly unassociated with established candidate genes selected based on known pathogenic findings, such as the serotonin transporter gene (SLC6A4) and brain-derived neurotrophic factor (BDNF),89–93”
From Epigenetic regulation in major depression and other stress-related disorders: molecular mechanisms, clinical relevance and therapeutic potential (2023) · cites this paper as [90]
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- Authors
- Olsson, C. A., Foley, D. L., Parkinson-Bates, M., Byrnes, G., McKenzie, M., Patton, G. C., Morley, R., Anney, R. J. L., Craig, J. M., & Saffery, R.
- Affiliations
- The University of Melbourne (AU)
- Murdoch Children's Research Institute (AU)
- Centre international de recherche sur le cancer (FR)
- Trinity College Dublin (IE)
- Corresponding author
- Olsson, C.A.
- Venue
- Biological Psychology
- Publisher
- Elsevier BV
- Published
- 2010-02
- Volume
- 83
- Issue
- 2
- Pages
- 159-165
- ISSN
- 0301-0511 (ISSN-L)
- OpenAlex
- W2082950662
- Cited by
- 137
- References
- 22
- Citations by year
- 2026: 4 · 2025: 4 · 2024: 6 · 2023: 4 · 2022: 7 · 2021: 28 · 2020: 3 · 2019: 5 · 2018: 4 · 2017: 12 · 2016: 8 · 2015: 9 · 2014: 12 · 2013: 7 · 2012: 12
- FWCI
- 3.22
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Biological Psychology (publishedVersion)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Funders
- National Health and Medical Research Council
- National Medical Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neurotransmitter Receptor Influence on Behavior
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- depression, epigenetics, DNA methylation, buccal epithelial cells, peripheral biomarkers, serotonin transporter gene, 5-HTTLPR, promoter polymorphism, adolescents, genetic risk
- MeSH terms
- Adolescent, Depressive Disorder, Female, Humans, Male, Methylation, Pilot Projects, Risk Factors, Severity of Illness Index, Cohort Studies, Biomarkers, Epigenesis, Genetic, Serotonin Plasma Membrane Transport Proteins, Young Adult
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