The DOI matches its Crossref record; 40 of the 40 references it cites were found in a registry or an index.
Autosomal Recessive Causes Likely in Early-Onset Alzheimer Disease
Open accessAbstract
OBJECTIVES: To determine the genetic contribution to non-autosomal dominant early-onset Alzheimer disease (EOAD) (onset age ≤60 years) cases and identify the likely mechanism of inheritance in those cases. DESIGN: A liability threshold model of disease was used to estimate heritability of EOAD and late-onset Alzheimer disease (AD) using concordance for AD among parent-offspring pairs. SETTING: The Uniform Data Set, whose participants were collected from 32 US Alzheimer's Disease Centers, maintained by the National Alzheimer's Coordinating Center. PARTICIPANTS: Individuals with probable AD and detailed parental history (n = 5370). MAIN OUTCOME MEASURES: The concordance among relatives and heritability of EOAD and late-onset AD. RESULTS: For late-onset AD (n = 4302), we found sex-specific parent-offspring concordance that ranged from approximately 10% to 30%, resulting in a heritability of 69.8% (95% confidence interval, 64.6%-75.0%), and equal heritability for both sexes regardless of parental sex. For EOAD (n = 702), we found that the parent-offspring concordance was 10% or less and concordance among siblings was 21.6%. Early-onset AD heritability was 92% to 100% for all likely values of EOAD prevalence. CONCLUSIONS: We confirm late-onset AD is a highly polygenic disease. By contrast, the data for EOAD suggest it is an almost entirely genetically based disease, and the patterns of observed concordance for parent-offspring pairs and among siblings lead us to reject the hypotheses that EOAD is a purely dominant, mitochondrial, X-linked, or polygenic disorder. The most likely explanation of the data is that approximately 90% of EOAD cases are due to autosomal recessive causes.
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“Estimates of heritability for EOAD are as high as 90–100% [24]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [24]
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“it has been estimated that up to 90% of EOAD may be caused by recessive mutations [24]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [24]
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Alzheimer Disease in the US Population: Prevalence Estimates Using the 2000 Census
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Mixed brain pathologies account for most dementia cases in community-dwelling older persons
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Exome sequencing identifies the cause of a mendelian disorder
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Role of Genes and Environments for Explaining Alzheimer Disease
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The inheritance of liability to certain diseases, estimated from the incidence among relatives
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Alzheimer's Disease and Parkinson's Disease
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Genome-wide Analysis of Genetic Loci Associated With Alzheimer Disease
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Li, H., Initiative, F. T. A. D. N., Liu, H., Lutz, M. W., & Luo, S. (2023) · Journal of Alzheimer's Disease · doi:10.3233/jad-220680 · Cited by 17
Metadata
- Authors
- Wingo, T. S.
- Affiliations
- Emory University (US)
- Corresponding author
- Wingo, Thomas S.
- ORCID
- Wingo, Thomas S.
- Venue
- Archives of Neurology
- Publisher
- American Medical Association (AMA)
- Published
- 2012-01-01
- Volume
- 69
- Issue
- 1
- Pages
- 59
- ISSN
- 0003-9942 (ISSN-L)
- PMC
- PMC3332307
- OpenAlex
- W2170959965
- Cited by
- 265
- References
- 40
- Citations by year
- 2026: 16 · 2025: 31 · 2024: 26 · 2023: 22 · 2022: 25 · 2021: 31 · 2020: 26 · 2019: 26 · 2018: 14 · 2017: 7 · 2016: 13 · 2015: 9 · 2014: 7 · 2013: 5 · 2012: 7
- FWCI
- 4.15
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Archives of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Alzheimer's Coordinating Center (U01AG016976)
- National Institutes of Health (UL1TR000454, AG016976, AG025688)
- National Institute on Aging (U01AG016976, P50AG025688)
- National Human Genome Research Institute (R01HG003461)
- National Center for Advancing Translational Sciences
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › 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
- early-onset Alzheimer's disease, late-onset Alzheimer's disease, autosomal recessive inheritance, heritability, sibling concordance, liability threshold model, polygenic inheritance
- MeSH terms
- Adult, Alzheimer Disease, Apolipoproteins E, Family Health, Female, Genotype, Humans, Male, Middle Aged, Neuropsychological Tests, Risk Factors, Cohort Studies, Age of Onset, Genetic Predisposition to Disease
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