Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred.
Ann Neurol
; 54(2): 163-9, 2003 Aug.
Article
em En
| MEDLINE
| ID: mdl-12891668
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 epsilon 4 allele carriers were more likely to develop AD at an earlier age than subjects without the epsilon 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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Apolipoproteínas E
/
Doença de Alzheimer
/
Proteínas de Membrana
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
America do sul
/
Colombia
Idioma:
En
Revista:
Ann Neurol
Ano de publicação:
2003
Tipo de documento:
Article
País de afiliação:
Estados Unidos
País de publicação:
Estados Unidos