Cited by 265Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchGenetic Associations and Epidemiology

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Autosomal Recessive Causes Likely in Early-Onset Alzheimer Disease

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Wingo, Thomas S.·2012·Archives of Neurology

DOI 10.1001/archneurol.2011.221PMC PMC3332307

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Abstract

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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Clinical diagnosis of Alzheimer's disease: Report of the NINCDS‐ADRDA Work Group* under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease
McKhann, G., Drachman, D., Folstein, M., Katzman, R., Price, D., & Stadlan, E. M. (1984) · Neurology · doi:10.1212/wnl.34.7.939 · Cited by 27,915
Clinical diagnosis of Alzheimer's disease: Report of the NINCDS—ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease
McKhann, G., Drachman, D., Folstein, M., Katzman, R., Price, D. L., & Stadlan, E. (2011) · Neurology · doi:10.1212/01.wnl.0000400650.92875.cf · Cited by 9,882
Alzheimer Disease in the US Population: Prevalence Estimates Using the 2000 Census
Hebert, L. E., Scherr, P. A., Bienias, J. L., Bennett, D. A., & Evans, D. A. (2003) · Archives of Neurology · doi:10.1001/archneur.60.8.1119 · Cited by 2,168
Mixed brain pathologies account for most dementia cases in community-dwelling older persons
Schneider, J. A., Arvanitakis, Z., Bang, W., & Bennett, D. A. (2007) · Neurology · doi:10.1212/01.wnl.0000271090.28148.24 · Cited by 1,992
Exome sequencing identifies the cause of a mendelian disorder
Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., Huff, C. D., Shannon, P. T., Jabs, E. W., Nickerson, D. A., et al. (2010) · Nature Genetics · doi:10.1038/ng.499 · Cited by 1,957
Role of Genes and Environments for Explaining Alzheimer Disease
Gatz, M., Reynolds, C. A., Fratiglioni, L., Johansson, B., Mortimer, J. A., Berg, S., Fiske, A., & Pedersen, N. L. (2006) · Archives of General Psychiatry · doi:10.1001/archpsyc.63.2.168 · Cited by 1,798
The inheritance of liability to certain diseases, estimated from the incidence among relatives
Falconer, D. (1965) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1965.tb00500.x · Cited by 1,662
Prevalence of Alzheimer's disease in a community population of older persons. Higher than previously reported
Evans, D. A. (1989) · JAMA · doi:10.1001/jama.262.18.2551 · Cited by 1,627
Alzheimer's Disease and Parkinson's Disease
Nussbaum, R. L., & Ellis, C. E. (2003) · New England Journal of Medicine · doi:10.1056/nejm2003ra020003 · Cited by 1,351
Genome-wide Analysis of Genetic Loci Associated With Alzheimer Disease
Seshadri, S. (2010) · JAMA · doi:10.1001/jama.2010.574 · Cited by 1,219

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“Estimates of heritability for EOAD are as high as 90–100% (Wingo et al., 2012), while heritability estimates for LOAD are slightly lower, in the range of 60–80% (Gatz et al.”
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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)
DOI: 10.1001/archneurol.2011.221
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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Autosomal Recessive Causes Likely in Early-Onset Alzheimer Disease

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