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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 meta-analysis. No significant association was found with the PSEN1 intronic or promoter polymorphism in our case-control sample. In the meta-analysis 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.

Original publication

DOI

10.1007/s004150170044

Type

Journal article

Journal

Journal of neurology

Publication Date

11/2001

Volume

248

Pages

935 - 939

Addresses

University of Antwerp, Department of Biochemistry. Universiteitsplein 1, Antwerpen, Belgium.

Keywords

Humans, Alzheimer Disease, Genetic Predisposition to Disease, Membrane Proteins, Risk Factors, Case-Control Studies, Age of Onset, Polymorphism, Genetic, Aged, Aged, 80 and over, Female, Male, Presenilin-1