Publication
Title
Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's disease
Author
Abstract
We have previously reported a significant association between early-onset Alzheimer's disease (EOAD) and an allele in the promoter of presenilin 1 (PSEN1) significantly decreasing PSEN1 expression in vitro. For late-onset Alzheimer's disease (LOAD), numerous studies have reported inconsistent associations with a PSEN1 intronic polymorphism. We therefore hypothesized that linkage disequilibrium between the intronic PSEN1 polymorphism and the functional promoter polymorphism might explain the conflicting reports in LOAD. We analysed both variations in 356 LOAD patients and 230 controls in a population-based case-control study. In addition, we re-analysed all published literature on the PSEN1 intronic polymorphism in a metaanalysis. No significant association was found with the PSEN1 intronic or promoter polymorphism in our case-control sample. In the metaanalysis no major differences between patients and controls were found for the PSEN1 intronic variation. Together, our results do not support a major role for variable expression of PSEN1 in LOAD.
Language
English
Source (journal)
Journal of neurology. - Berlin
Publication
Darmstadt : Dr dietrich steinkopff verlag , 2001
ISSN
0340-5354
0012-1037
Volume/pages
248 :11 (2001) , p. 935-939
ISI
000172103500002
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 08.10.2008
Last edited 18.10.2021
To cite this reference