Cited by 194Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchAmyotrophic Lateral Sclerosis Research

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Apolipoprotein Eε4 modifies Alzheimer's disease onset in an E280A PS1 kindred

Pastor, Pau, Roe, Catherine M., Villegas, Andrés, Bedoya, Gabriel, Chakraverty, Sumi, García, Gloria, Tirado, Victoria, Norton, Joanne, Ríos, Silvia, Martínez, Maribel, Kosik, Kenneth S., Lopera, Francisco, Goate, Alison M.·2003·Annals of Neurology

DOI 10.1002/ana.10636

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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

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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: Roe, Catherine M.
Villegas, Andrés
Bedoya, Gabriel
Kosik, Kenneth S.
Lopera, Francisco
Goate, Alison M.
Venue: Annals of Neurology
Publisher: Wiley
Published: 2003-07-25
Volume: 54
Issue: 2
Pages: 163-169
ISSN: 0364-5134 (ISSN-L)
1531-8249
DOI: 10.1002/ana.10636
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
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
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

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Apolipoprotein Eε4 modifies Alzheimer's disease onset in an E280A PS1 kindred

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