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Article

Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's disease.

Journal of neurology - 1 Nov 2001

Dermaut B, Roks G, Theuns J, Rademakers R, Houwing-Duistermaat J J, Serneels S, Hofman A, Breteler M M, Cruts M, Van Broeckhoven C, van Duijn C M

Abstract excerpt

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...

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Source

Identifiers

PMID: 11757955
DOI: 10.1007/s004150170044

Genes

PSEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's disease.PMID 11757955Read ↗

No association of the -48CT polymorphism of the presenilin 1 gene with Alzheimer disease in a late-onset sporadic population.Semantic proximity Read ↗

Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample.Semantic proximity Read ↗

Presenilin-1 intron 8 polymorphism is not associated with autopsy-confirmed late-onset Alzheimer's disease.Semantic proximity Read ↗

Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression.Semantic proximity Read ↗

Association between presenilin 1 intronic polymorphism and late onset Alzheimer's disease in the North Chinese population.Semantic proximity Read ↗

Evaluation of polymorphisms in the presenilin-1 gene and the butyrylcholinesterase gene as risk factors in sporadic Alzheimer's disease.Semantic proximity Read ↗

No association between an intronic polymorphism in the presenilin-1 gene and Alzheimer disease in a Tunisian population.Semantic proximity Read ↗

A polymorphism in the presenilin 1 gene does not modify risk for Alzheimer's disease in a cohort with sporadic early onset.Semantic proximity Read ↗

No association or linkage between an intronic polymorphism of presenilin-1 and sporadic or late-onset familial Alzheimer disease.Semantic proximity Read ↗

Presenilin 1 polymorphism associated with Alzheimer's disease in apolipoprotein E4 carriers.Semantic proximity Read ↗

Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing.Semantic proximity Read ↗

No association between an intronic polymorphism in the presenilin-1 gene and Alzheimer disease in a German population.Semantic proximity Read ↗

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