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Genetic and Environmental Factors Affect Familial Alzheimer Disease Onset

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Genetic and environmental factors affect familial Alzheimer disease onset.

According to recent research from the United States, "We previously have identified a large kindred from Colombia in which Alzheimer's disease (AD) is caused by the E280A presenilin 1 (PSI) 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 PSI mutation."

"We genotyped coding and promoter polymorphisms of the APOE gene in carriers of the E280A PSI mutation," said Pau Pastor and colleagues at Washington University in St. Louis. "Kaplan-Meier product-limit and Cox proportional hazard models were used in the statistical analyses. DNA was available from 114 carriers of the E280A PSI mutation, including 52 subjects with AD."

The researchers found, "APOE 64 allele carriers were more likely to develop AD at an earlier age than subjects without the epsilon4 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."

The investigators concluded, "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 Alzheimer's disease mutation."

Pastor and colleagues published their study in the Annals of Neurology (Apolipoprotein E epsilon 4 modifies Alzheimer's disease onset in an E280A PS1 kindred. Ann Neurol, 2003;54(2):163-169).

For additional information, contact Alison M. Goate, Department of Psychiatry, Washington University School of Medicine, Campus Box 8134, St. Louis, MO 63110, USA. E-mail:

Publisher contact information for the journal Annals of Neurology is: Wiley-Liss, Division of John Wiley and Sons Inc., 605 Third Avenue, New York, NY 10158-0012, USA.

The information in this article comes under the major subject areas of Alzheimer Disease, Genomics and Genetics, Cognition, Mutagenesis, Proteomics, Neurology, and Neuroscience. This article was prepared by Biotech Week editors from staff and other reports.

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