The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE
Open accessAbstract
Alzheimer's disease (AD) is a complex disorder with a clear genetic component. Three genes have been identified as the cause of early onset familial AD (EOAD). The most common form of the disease, late onset Alzheimer's disease (LOAD), is, however, a sporadic one presenting itself in later stages of life. The genetic component of this late onset form of AD has been the target of a large number of studies, because only one genetic risk factor (APOE4) has been consistently associated with the disease. However, technological advances allow new approaches in the study of complex disorders. In this review, we discuss the new results produced by genome wide association studies, in light of the current knowledge of the complexity of AD genetics.
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The genetic architecture of AD is more complex than that suggested by the "common disease, common variant" hypothesis GWAS is designed to test.
“suggesting the genetic architecture of AD is more complex than that suggested by the “common disease, common variant” hypothesis GWAS is designed to test [127].”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [127]
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- Authors
- Guerreiro, R. J., Gustafson, D. R., & Hardy, J.
- Affiliations
- National Institutes of Health (US)
- SUNY Downstate Health Sciences University (US)
- UCL Queen Square Institute of Neurology (GB)
- Corresponding author
- Guerreiro, Rita J.
- Venue
- Neurobiology of Aging
- Publisher
- Elsevier BV
- Published
- 2012-03
- Volume
- 33
- Issue
- 3
- Pages
- 437-456
- ISSN
- 0197-4580 (ISSN-L)
- PMC
- PMC2980860
- OpenAlex
- W2108292688
- Cited by
- 285
- References
- 26
- Citations by year
- 2026: 17 · 2025: 12 · 2024: 16 · 2023: 14 · 2022: 23 · 2021: 25 · 2020: 20 · 2019: 23 · 2018: 19 · 2017: 15 · 2016: 22 · 2015: 28 · 2014: 18 · 2013: 11 · 2012: 10
- FWCI
- 1.04
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Neurobiology of Aging (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Neurobiology of Disease
- Funders
- National Institute on Aging, National Institutes of Health, Department of Health and Human Services (Z01 AG000950-06)
- Fundacao para a Ciencia e Tecnologia (SFRH/BD/27,442/2006)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- Alzheimer's disease, genetic architecture, late-onset Alzheimer's disease, early-onset familial Alzheimer's disease, APP, presenilin 1, presenilin 2, APOE ε4, genetic risk factors, genome-wide association study, complex genetic disorders
- MeSH terms
- Alzheimer Disease, Animals, Apolipoproteins E, Humans, Amyloid beta-Protein Precursor, Presenilin-1, Presenilin-2
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