Genetic aspects of Alzheimer disease.
Open accessAbstract
Alzheimer disease is the most common cause of dementia and represents a major public health problem. The neuropathologic findings of amyloid-beta plaques and tau containing neurofibrillary tangles represent important molecular clues to the underlying pathogenesis. Genetic factors are well recognized, but complicated. Three rare forms of autosomal-dominant early-onset familial Alzheimer disease have been identified and are associated with mutations in amyloid precursor protein, presenilin 1, and presenilin 2 genes. The more common late-onset form of Alzheimer disease is assumed to be polygenic/multifactorial. However, thus far the only clearly identified genetic risk factor for Alzheimer disease is Apo lipoprotein E. The epsilon4 allele of Apo lipoprotein E influences age at onset of Alzheimer disease, but is neither necessary nor sufficient for the disease. The search continues for the discovery of additional genetic influences.
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A small subset of Alzheimer's disease cases is caused by autosomal-dominant AD mutations in PSEN1, PSEN2, and APP, leading to early-onset AD with amyloid plaques and neurofibrillary tangles.
“While most cases are sporadic (SAD), a small subset is caused by autosomal-dominant AD (ADAD) mutations in presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP), leading to early-onset AD with hallmark amyloid plaques and neurofibrillary tangles (Bateman et al., 2011; Bird, 2008; Selkoe and Hardy, 2016).”
From Isogenic human stem cell models reveal mutation-dependent protective mechanisms of APOE3 Christchurch (2026) · cites this paper as Bird, 2008
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Review Article: Genetics of Alzheimer Disease
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Epigenetic regulation in the pathophysiology of Alzheimer's disease
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Frisch, C., Baker, L., Srinivasan, G., Mintah, A. E., Leyasi, S., Pedroza, M., Galyon, B., & Brafman, D. A. (2026) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2026.1856154
- Authors
- Bird, T. D.
- Affiliations
- University of Washington (US)
- Corresponding author
- Bird, Thomas D.
- ORCID
- Bird, Thomas D.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2008-04
- Volume
- 10
- Issue
- 4
- Pages
- 231-239
- ISSN
- 1098-3600 (ISSN-L)
- PMC
- PMC2690397
- OpenAlex
- W2060480788
- Cited by
- 356
- References
- 2
- Citations by year
- 2026: 9 · 2025: 17 · 2024: 16 · 2023: 14 · 2022: 19 · 2021: 24 · 2020: 20 · 2019: 20 · 2018: 10 · 2017: 24 · 2016: 16 · 2015: 16 · 2014: 18 · 2013: 14 · 2012: 15
- FWCI
- 3.75
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute on Aging (P50AG005136)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Keywords
- Alzheimer's disease, genetic risk factors, amyloid plaques, neurofibrillary tangles, amyloid precursor protein mutations, presenilin 1, presenilin 2, late-onset Alzheimer's disease, polygenic inheritance, apolipoprotein E, APOE ε4, dementia
- MeSH terms
- Alzheimer Disease, Diagnosis, Differential, Genetic Counseling, Genetic Testing, Humans
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