Heritability for Alzheimer’s disease: the study of dementia in Swedish twins
Abstract
BACKGROUND: Alzheimer's disease has been thought to have familial and sporadic forms, and several genetic defects have been identified that chiefly explain early-onset familial cases. In this study, our purpose was to detect all cases of dementia in an established twin registry and to estimate total extent of genetic contribution to liability to Alzheimer's disease. METHODS: At the first stage, members of the registry were screened for dementia, using in-person or telephone mental status testing. At the second stage, those who screened positively and their partners were referred for clinical work-ups, including neuropsychological assessment, physician examination, laboratory tests, and neuroimaging. Clinical diagnoses were assigned at a multidisciplinary consensus conference. Probandwise concordance rates were examined by zygosity, and structural modeling was applied to the data to estimate genetic and environmental influences, using both single- and multiple-threshold models. RESULTS: Sixty-five pairs were identified in which one or both was demented. The probandwise concordance rate for Alzheimer's disease among monozygotic pairs was 67%; the corresponding figure for dizygotic pairs was 22%. Heritability of liability to Alzheimer's disease was estimated to be .74; to any dementia, .43. The other variance is attributable to environmental influences. CONCLUSIONS: Findings indicate a substantial genetic effect for these predominantly late-onset Alzheimer's disease cases. At the same time, structural modeling results and large intra-pair differences in age of onset suggest that environmental factors are also important in determining whether and when an individual may develop dementia.
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Alzheimer's disease has a strong hereditary component, estimated at 74-79%.
“AD has a strong hereditary component, estimated at 74–79% [1, 2]”
From Association of SPI1 haplotypes with altered SPI1 gene expression and Alzheimer’s disease risk (2022) · cites this paper as [2]
Heritability estimates for late-onset Alzheimer's disease (LOAD) are in the range of 60-80%.
“heritability estimates for LOAD are slightly lower, in the range of 60–80% [25]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [25]
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- Authors
- Gatz, M., Pedersen, N. L., Berg, S., Johansson, B., Johansson, K., Mortimer, J. A., Posner, S. F., Viitanen, M., Winblad, B., & Ahlbom, A.
- Affiliations
- University of Southern California (US)
- Jönköping University (SE)
- Karolinska Institutet (SE)
- University of South Florida (US)
- University of California, San Francisco (US)
- ORCID
- Venue
- The Journals of Gerontology Series A: Biological Sciences and Medical Sciences
- Publisher
- Oxford University Press (OUP)
- Published
- 1997-03-01
- Volume
- 52A
- Issue
- 2
- Pages
- M117-M125
- ISSN
- 1079-5006 (ISSN-L)
- 1758-535X
- OpenAlex
- W2104822288
- Cited by
- 413
- References
- 38
- Citations by year
- 2026: 11 · 2025: 16 · 2024: 9 · 2023: 18 · 2022: 21 · 2021: 16 · 2020: 20 · 2019: 24 · 2018: 17 · 2017: 17 · 2016: 15 · 2015: 18 · 2014: 11 · 2013: 19 · 2012: 13
- FWCI
- 6.34
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journals of Gerontology Series A (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute on Aging (R01AG004563, AG-10175, R01-AG08724, AG04563, R01AG010175, R01AG008724)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- Alzheimer's disease, dementia, heritability, genetic susceptibility, monozygotic twins, dizygotic twins, twin registry, environmental factors, age of onset, late-onset Alzheimer's disease, genetic and environmental factors
- MeSH terms
- Aged, Aged, 80 and over, Alzheimer Disease, Dementia, Diseases in Twins, Humans, Middle Aged, Models, Genetic, Registries, Twins, Dizygotic, Twins, Monozygotic, Age of Onset
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