DNA Methylation Analysis of Candidate Genes Associated with Dementia in Peripheral Blood
Open accessAbstract
Aim: To investigate whether genes implicated in dementia pathogenesis are differently methylated in peripheral blood. Materials & methods: Participants included 160 cognitively healthy individuals aged 70+ years: 73 who were subsequently diagnosed with dementia and 87 controls matched on age, gender, education, smoking and baseline cognition. A total of 49 participants also provided blood samples at diagnosis. Blood DNA methylation of APOE, APP, BDNF, PIN1, SNCA and TOMM40 was examined. Results: A total of 56 of 299 probes were differentially methylated in dementia compared with controls and 39 probes prior to diagnosis. The greatest effect size was in APP (cg19423170, Δ-8.32%, adjusted p = 0.009 at diagnosis; cg19933173, Δ-4.18%, adjusted p < 0.0001 prediagnosis). Conclusion: Genes implicated in dementia pathogenesis show differential blood methylation in dementia, even prior to diagnosis.
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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 [29]
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Additional file 2 of Distinct sex-specific DNA methylation differences in Alzheimer’s disease
Silva, T. C., Zhang, W. Y., 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.21129954
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
Blood DNA Methylation Predicts Long-Term Risk of Dementia in Prospective CohortsPreprint
Maihofer, A. X., Mackey, C. E., Robertson, J. A., Marioni, R. E., Nguyen, S., McEvoy, L. K., LaCroix, A. Z., Espeland, M. A., Rapp, S. R., Resnick, S. M., et al. (2026) · medRxiv · doi:10.64898/2026.07.08.26357554
- Authors
- Fransquet, P. D., Lacaze, P., Saffery, R., Phung, J., Parker, E., Shah, R. C., Murray, A., Woods, R. L., & Ryan, J.
- Affiliations
- Monash University (AU)
- The University of Melbourne (AU)
- Rush University Medical Center (US)
- University of Minnesota (US)
- Inserm (FR)
- ORCID
- Venue
- Epigenomics
- Publisher
- Informa UK Limited
- Published
- 2020-12
- Volume
- 12
- Issue
- 23
- Pages
- 2109-2123
- ISSN
- 1750-1911 (ISSN-L)
- 1750-192X
- PMC
- PMC8008206
- OpenAlex
- W3088593081
- Cited by
- 25
- References
- 54
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 4 · 2023: 4 · 2022: 8 · 2021: 2
- FWCI
- 1.22
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Epigenomics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Deakin Research Online (Deakin University) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- Funders
- Australian Government RTP Scholarship
- Dementia Research Leader Fellowship (APP1135727)
- National Health and Medical Research Council (NHMRC) of Australia (1127060, 334047)
- National Institute on Aging and the National Cancer Institute at the National Institutes of Health (U01AG029824)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Keywords
- DNA methylation, dementia, peripheral blood, candidate genes, apolipoprotein E, APP, brain-derived neurotrophic factor, Pin1, SNCA, TOMM40, epigenetic biomarkers, pre-diagnostic biomarkers, older adults, Alzheimer's disease
- MeSH terms
- NIMA-Interacting Peptidylprolyl Isomerase, Mental Status and Dementia Tests, Mitochondrial Precursor Protein Import Complex Proteins, Aged, Aged, 80 and over, Apolipoproteins E, Dementia, Female, Humans, Male, Amyloid beta-Protein Precursor, DNA Methylation, Brain-Derived Neurotrophic Factor, Membrane Transport Proteins, alpha-Synuclein
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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