Recently, a polymorphism located in the promoter of the presenilin 1 gene was associated with early-onset Alzheimer disease (EOAD). To determine if this polymorphism is also a risk factor for late-onset Alzheimer's disease (LOAD), we analysed its potential impact in a French population of LOAD patients only. Genotype and allelic distributions of the -48CT polymorphism were similar for controls and AD patients. Our result suggests that this polymorphism may not influence the development of LOAD. Other studies need to be undertaken to confirm this association restricting the impact of this polymorphism to EOAD patients.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s007020200085 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Lack of association between IDE genetic variability and Down's syndrome.
Neurosci Lett
July 2005
Department of Neurosciences, Pediatric Neurology Unit, Tor Vergata University of Rome, Rome, Italy.
Virtually all patients with Down's syndrome develop Alzheimer disease (AD) during their life; thus, it is extremely important to investigate potential determinants of AD in this population. Previous studies found an association of DS with -48C/T presenilin-1 and with the -850 tumor necrosis factor-alpha, two polymorphisms of genes involved in amyloid beta modulation In this study, we evaluated whether the insulin-degrading enzyme (IDE), a protease involved in the degradation of endogenous brain-derived Abeta peptides, is involved in DS-related AD. To this end, 287 DS patients were compared with 251 apparently healthy controls, in order to assess the association between DS and two single nucleotide polymorphisms located on the introns 14 and 24 of the IDE gene.
View Article and Find Full Text PDFAssociation between presenilin-1 -48C/T polymorphism and Down's syndrome.
Neurosci Lett
August 2004
Institute of Molecular Biology and Pathology, National Research Council, Rome 00185, Italy.
Individuals with Down's syndrome (DS), i.e., trisomy 21, over 40 years of age, are likely to develop neuropathological changes characteristic of Alzheimer's disease (AD).
View Article and Find Full Text PDFNo association of the -48CT polymorphism of the presenilin 1 gene with Alzheimer disease in a late-onset sporadic population.
J Neural Transm (Vienna)
July 2002
Unité INSERM 508, Institut Pasteur de Lille, 1 rue du Pr Calmette, BP 245, F-59019 Lille Cedex, France.
Recently, a polymorphism located in the promoter of the presenilin 1 gene was associated with early-onset Alzheimer disease (EOAD). To determine if this polymorphism is also a risk factor for late-onset Alzheimer's disease (LOAD), we analysed its potential impact in a French population of LOAD patients only. Genotype and allelic distributions of the -48CT polymorphism were similar for controls and AD patients.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!