APOE ε4 influences the manifestation of Alzheimer's disease in adults with Down's syndrome
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Background: Recent studies of the relationship between the apolipoprotein E (APOE) gene and Alzheimer's disease in adults with Down's syndrome have revealed inconsistent results. Aims: To assess the role of the APOE gene in the manifestation of Alzheimer's disease in adults with Down's syndrome. Method: We studied the APOE genotypes of 24 adults with dementia and 33 non-demented adults with Down's syndrome over 35 years of age, and an additional group of 164 non-learning disabled adults. We also carried out a meta-analysis of all previously published studies of association between APOE and Down's syndrome, incorporating the current data. Results: We observed a non-significant excess of APOE ε4 and a reduction of ε2 in adults with dementia compared with non-demented adults with Down's syndrome in our sample. However, meta-analysis showed a significantly higher frequency of ε4 in adults with dementia compared with non-demented adults with Down's syndrome (odds ratio=2.02, 95% CI 1.33–3.07, P=0.001), but no significant reduction in the frequency of ε2. Conclusions: The APOE ε4 allele acts as a risk factor for the age-specific manifestation of Alzheimer's disease in people with Down's syndrome.
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The isoform variation of APOE is associated with an increased risk of developing AD in the general population.
“The isoform variation of the protein is associated with an increased risk of developing AD in the general population [11, 16, 44].”
From Apolipoprotein E abundance is elevated in the brains of individuals with Down syndrome–Alzheimer’s disease (2025) · cites this paper as [11]
The Abstract reports that APOE ε4 is associated with Alzheimer’s disease in adults with Down’s syndrome, and the Age of onset section calls it a risk factor in that group. The paper mentions possible effects of APOE status in the general population, but the passages do not establish the claimed increased risk of developing Alzheimer’s disease in that population. (LLM, conf=0.82)
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References 29 · Cited by 71
Research works printed but not linked: 4
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- Authors
- Deb, S., Braganza, J., Norton, N., Williams, H., Kehoe, P. G., Williams, J., & Owen, M. J.
- Affiliations
- University of Wales (GB)
- Cardiff University (GB)
- Corresponding author
- Deb, Shoumitro
- Venue
- British Journal of Psychiatry
- Publisher
- Royal College of Psychiatrists
- Published
- 2000-05
- Volume
- 176
- Issue
- 5
- Pages
- 468-472
- ISSN
- 0007-1250 (ISSN-L)
- 1472-1465
- OpenAlex
- W1603308942
- Cited by
- 71
- References
- 29
- Citations by year
- 2025: 5 · 2023: 1 · 2022: 5 · 2021: 4 · 2019: 3 · 2018: 2 · 2017: 2 · 2016: 2 · 2015: 3 · 2014: 3 · 2013: 3 · 2012: 1
- FWCI
- 4.69
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The British Journal of Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Explore Bristol Research (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Bristol Research (University of Bristol) (submittedVersion)
- Funders
- Medical Research Council
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- APOE ε4, apolipoprotein E, Alzheimer's disease, Down syndrome, dementia, APOE ε2, genetic risk factors, adults with Down syndrome
- MeSH terms
- Adult, Aged, Alzheimer Disease, Apolipoproteins E, Down Syndrome, Female, Genotype, Humans, Male, Middle Aged, Risk Factors, Meta-Analysis as Topic, Cohort Studies, Age of Onset, Apolipoprotein E4
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