The DOI matches its Crossref record; 42 of the 42 references it cites were found in a registry or an index.
Apolipoprotein Eε4 modifies Alzheimer's disease onset in an E280A PS1 kindred
Abstract
We previously have identified a large kindred from Colombia in which Alzheimer's disease (AD) is caused by the E280A presenilin 1 (PS1) mutation. The objective of this study was to examine whether environmental and genetic factors are responsible for variation in the phenotypic expression of the E280A PS1 mutation. We genotyped coding and promoter polymorphisms of the APOE gene in carriers of the E280A PS1 mutation. Kaplan–Meier product‐limit and Cox proportional hazard models were used in the statistical analyses. DNA was available from 114 carriers of the E280A PS1 mutation, including 52 subjects with AD. APOE ε 4 allele carriers were more likely to develop AD at an earlier age than subjects without the ε 4 allele (hazard ratio, 2.07; 95% confidence interval, 1.07–3.99; p = 0.030). Subjects with low education were more likely to develop AD later than those with higher education (hazard ratio, 0.476; 95% confidence interval, 0.26–0.87). Low educational level was associated with rural residence (p < 0.001). Promoter APOE variants did not influence either the onset or the duration of the disease. This study is the first to our knowledge to demonstrate that genetic and environmental factors influence age of onset in a kindred with a familial AD mutation. Ann Neurol 2003
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“and that the APOE*E2 allele had a modest statistically nonsignificant ADAOO decelerator effect.42”
From APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer’s disease (2016) · cites this paper as [42]
In the citing paper
“The second study expanded the number of patients with the E280A mutation to 52 and found that carriers of the APOE ɛ4 allele were more likely to develop AD at an earlier age than non-carriers (hazard ratio=2.07; 95% CI=1.07–3.99; P<0.03)”
From APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer’s disease (2016) · cites this paper as [42]
In the citing paper
“The best known genetic modulator of AD AAO, the APOE ɛ4 allele, reduces AAO in both familial and sporadic AD,6, 7”
From Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's disease (2015) · cites this paper as [7]
Citations
Cites
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
The Clinical Dementia Rating (CDR): Current version and scoring rules
Morris, J. C. (1993) · Neurology · doi:10.1212/wnl.43.11.2412-a · Cited by 9,882
Mirra, S. S., Heyman, A., McKeel, D., Sumi, S. M., Crain, B. J., Brownlee, L. M., Vogel, F. S., Hughes, J. P., Belle, G. V., Berg, L., et al. (1991) · Neurology · doi:10.1212/wnl.41.4.479 · Cited by 4,961
Goate, A., Chartier-Harlin, M.-C., Mullan, M., Brown, J., Crawford, F., Fidani, L., Giuffra, L., Haynes, A., Irving, N., James, L., et al. (1991) · Nature · doi:10.1038/349704a0 · Cited by 4,659
Self-citationStatistical Models and Methods for Lifetime Data
Lawless, J. F. (2002) · Wiley series in probability and statistics · doi:10.1002/9781118033005 · Cited by 4,521
Moms, J. C., Heyman, A., Mohs, R. C., Hughes, J. P., van Belle, G., Fillenbaum, G., Mellits, E. D., & Clark, C. (1989) · Neurology · doi:10.1212/wnl.39.9.1159 · Cited by 4,130
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Sherrington, R., Rogaev, E. I., Liang, Y., Rogaeva, E. A., Levesque, G., Ikeda, M., Chi, H., Lin, C., Li, G., Holman, K., et al. (1995) · Nature · doi:10.1038/375754a0 · Cited by 4,051
Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI.
Hixson, J., & Vernier, D. (1990) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)43176-1 · Cited by 2,933
Consortium to Establish a Registry for Alzheimer's Disease (CERAD)
Fillenbaum, G., & Heyman, A. (2002) · doi:10.1002/0470846410.ch42(iii · Cited by 2,859
Statistical Models and Methods for Lifetime Data.
Francis, B. J., & Lawless, J. F. (1983) · Biometrics · doi:10.2307/2531129 · Cited by 2,774
Research works printed but not linked: 1
- Cadavid‐Celis L, 2002, Finding of the largest common pedigree of Alzheimer disease families, J Int Neuropsychol Soc, 8
Cited by
Sorted by citations
Karran, E., Mercken, M., & Strooper, B. D. (2011) · Nature Reviews Drug Discovery · doi:10.1038/nrd3505 · Cited by 2,188
Apolipoprotein E and Alzheimer disease: pathobiology and targeting strategies
Yamazaki, Y., Zhao, N., Caulfield, T. R., Liu, C.-C., & Bu, G. (2019) · Nature Reviews Neurology · doi:10.1038/s41582-019-0228-7 · Cited by 1,425
Alzheimer’s Disease: The Challenge of the Second Century
Holtzman, D. M., Morris, J. C., & Goate, A. M. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3002369 · Cited by 1,424
Self-citationKalaria, R. N., Maestre, G. E., Arizaga, R., Friedland, R. P., Galasko, D., Hall, K., Luchsinger, J. A., Ogunniyi, A., Perry, E. K., Potocnik, F., et al. (2008) · The Lancet Neurology · doi:10.1016/s1474-4422(08)70169-8 · Cited by 1,233
High-precision plasma β-amyloid 42/40 predicts current and future brain amyloidosis
Schindler, S. E., Bollinger, J. G., Ovod, V., Mawuenyega, K. G., Li, Y., Gordon, B. A., Holtzman, D. M., Morris, J. C., Benzinger, T. L. S., Xiong, C., et al. (2019) · Neurology · doi:10.1212/wnl.0000000000008081 · Cited by 885
Metadata
- Authors
- Pastor, P., Roe, C. M., Villegas, A., Bedoya, G., Chakraverty, S., García, G., Tirado, V., Norton, J., Ríos, S., Martínez, M., Kosik, K. S., Lopera, F., & Goate, A. M.
- Affiliations
- Washington University in St. Louis (US)
- Universidad de Antioquia (CO)
- Brigham and Women's Hospital (US)
- Corresponding author
- Goate, Alison M.
- ORCID
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2003-07-25
- Volume
- 54
- Issue
- 2
- Pages
- 163-169
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2056614031
- Cited by
- 194
- References
- 42
- Citations by year
- 2026: 3 · 2025: 7 · 2024: 7 · 2023: 7 · 2022: 12 · 2021: 11 · 2020: 12 · 2019: 10 · 2018: 7 · 2017: 7 · 2016: 11 · 2015: 10 · 2014: 9 · 2013: 6 · 2012: 8
- FWCI
- 4.23
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- COLCIENCIAS (115-04-007-99; F.L.)
- NIA (P50 AG05681 A.M.G C.M.R., P01 AG03991)
- 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
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Keywords
- Alzheimer's disease, presenilin 1, APOE ε4, age of onset, familial Alzheimer's disease, APOE promoter polymorphisms, educational attainment, rural residence, genetic and environmental risk factors
- MeSH terms
- Adult, Aged, Aged, 80 and over, Alleles, Alzheimer Disease, Apolipoproteins E, Colombia, DNA, Education, Environment, Female, Heterozygote, Humans, Male, Membrane Proteins, Middle Aged, Mutation, Pedigree, Phenotype, Polymorphism, Genetic, Promoter Regions, Genetic, Rural Population, Survival Analysis, Age of Onset, Apolipoprotein E4, Presenilin-1
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
