A polymorphism in the regulatory region of APOE associated with risk for Alzheimer's dementia

María Jesús Bullido, María Jesús Artiga, María Recuero, Isabel Sastre, Miguel Angel García, Jesús Aldudo, Corinne Lendon, Sang Woo Han, John C. Morris, Anna Frank, Jesús Vázquez, Alison Goate, Fernando Valdivieso

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252 Scopus citations

Abstract

The ε4 allele of the apolipoprotein E gene (APOE) has been associated with an increased risk of developing Alzheimer's disease (AD; refs 1,2). However, it is apparent that the APOEε4 allele alone is neither necessary nor sufficient to cause the disease. We have recently found three new polymorphisms within the APOE transcriptional regulatory region (M.J.A. et al, manuscript submitted) and now establish an association between one of these polymorphisms (-491A/T) and dementia as observed in Alzheimer's disease, in two independent clinical populations. The results suggest that homozygosity of a common variant (-491A) is associated with increased risk for AD, and that this association is independent of APOEz4 status. In vitro studies suggest that the -491A/T polymorphism may increase risk for AD by altering the level of ApoE protein expression.

Original languageEnglish
Pages (from-to)69-71
Number of pages3
JournalNature Genetics
Volume18
Issue number1
DOIs
StatePublished - 1998

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