Presenilin-1 gene intronic polymorphism in sporadic and familial Alzheimer's disease

A recent observation has shown a genetic association between an intronic polymorphism in the Presenilin-1 (PS-1) gene and late onset Alzheimer's disease (AD). The homozygosity of the 1 allele in the PS-1 gene was associated with a doubling of the risk for late onset AD. However, contrasting res...

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Bibliographic Details
Published in:Neuroscience letters 1997-01, Vol.222 (2), p.132-134
Main Authors: SORBI, S, NACMIAS, B, TEDDE, A, FORLEO, P, PIACENTINI, S, LATORRACA, S, AMADUCCI, L
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Alleles
Alzheimer Disease - genetics
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Family Health
Gene Frequency
Genotype
Humans
Introns - genetics
Medical sciences
Membrane Proteins - genetics
Middle Aged
Mutation
Neurology
Polymorphism, Genetic
Presenilin-1
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Summary:A recent observation has shown a genetic association between an intronic polymorphism in the Presenilin-1 (PS-1) gene and late onset Alzheimer's disease (AD). The homozygosity of the 1 allele in the PS-1 gene was associated with a doubling of the risk for late onset AD. However, contrasting results have been published. We analyzed the distribution of the PS-1 intronic polymorphism in patients with sporadic AD and in seven familial AD (FAD) families carrying pathogenetic mutations in the amyloid precursor protein (APP) and Presenilin (PS-1 and PS-2) genes. Significant differences in PS-1 allele frequencies were observed in the Presenilin genes mutated families but not in late onset AD patients and in APP mutated families.
ISSN:0304-3940
1872-7972
DOI:10.1016/S0304-3940(97)13345-6