Blood DNA methylation as a potential biomarker of dementia: A systematic review
Open accessAbstract
Dementia is a major public health issue with rising prevalence rates, but many individuals remain undiagnosed. Accurate and timely diagnosis is key for the optimal targeting of interventions. A noninvasive, easily measurable peripheral biomarker would have greatest utility in population‐wide diagnostic screening. Epigenetics, including DNA methylation, is implicated in dementia; however, it is unclear whether epigenetic changes can be detected in peripheral tissue. This study aimed to systematically review the evidence for an association between dementia and peripheral DNA methylation. Forty‐eight studies that measured DNA methylation in peripheral blood were identified, and 67% reported significant associations with dementia. However, most studies were underpowered and limited by their case‐control design. We emphasize the need for future longitudinal studies on large well‐characterized populations, measuring epigenetic patterns in asymptomatic individuals. A biomarker detectable in the preclinical stages of the disease would have the greatest utility in future intervention and treatment trials.
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DNA methylation alterations can be detected in the blood of AD subjects.
“and can also be detected in the blood of AD subjects [25–31].”
From Distinct sex-specific DNA methylation differences in Alzheimer’s disease (2022) · cites this paper as [25]
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Wrigglesworth, J., Ryan, J., Vijayakumar, N., & Whittle, S. (2019) · Psychiatry Research: Neuroimaging · doi:10.1016/j.pscychresns.2018.12.012 · Cited by 34 · see citing works
Self-citationBlood DNA methylation signatures to detect dementia prior to overt clinical symptoms
Fransquet, P. D., Lacaze, P., Saffery, R., Phung, J., Parker, E., Shah, R., Murray, A., Woods, R. L., & Ryan, J. (2020) · Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring · doi:10.1002/dad2.12056 · Cited by 36 · see citing works
Self-citationDistinct 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) · Alzheimer's Research & Therapy · doi:10.1186/s13195-022-01070-z · Cited by 33 · see citing works
- Authors
- Fransquet, P. D., Lacaze, P., Saffery, R., McNeil, J., Woods, R., & Ryan, J.
- Affiliations
- The University of Melbourne (AU)
- Monash University (AU)
- Inserm (FR)
- Corresponding author
- Ryan, Joanne
- Venue
- Alzheimer's & Dementia
- Publisher
- Wiley
- Published
- 2017-11-08
- Volume
- 14
- Issue
- 1
- Pages
- 81-103
- ISSN
- 1552-5260 (ISSN-L)
- 1552-5279
- PMC
- PMC6810631
- OpenAlex
- W2767280000
- Cited by
- 96
- References
- 13
- Citations by year
- 2026: 3 · 2025: 10 · 2024: 5 · 2023: 12 · 2022: 15 · 2021: 13 · 2020: 19 · 2019: 10 · 2018: 8 · 2016: 1
- FWCI
- 1.87
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Alzheimer s & Dementia (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Monash University Research Portal (Monash University) (submittedVersion, other-oa)
- Own your potential (DEAKIN) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- Funders
- Australian Government
- Monash University
- National Institute on Aging (U01AG029824)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Keywords
- dementia, DNA methylation
- MeSH terms
- Dementia, Humans, Biomarkers, DNA Methylation, Epigenesis, Genetic
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