Presenilin 1 Polymorphism Associated with Alzheimer's Disease in Apolipoprotein E4 Carriers

Mutations of presenilin 1 (PSEN1) are associated with monogenic Alzheimer's disease (AD); polymorphisms at this gene may therefore be associated with the sporadic form of the disease. In fact, recent meta-analyses and whole-genome association studies indicate PSEN1 as one of the few genes signi...

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Published in:Dementia and geriatric cognitive disorders 2008-01, Vol.26 (5), p.440-444
Main Authors: MARTINEZ-GARCIA, Ana, ALDUDO, Jesus, RECUERO, Maria, SASTRE, Isabel, VILELLA-CUADRADA, Elisabet, ROSICH-ESTRAGO, Marcel, FRANK, Ana, VALDIVIESO, Fernando, BULLIDO, Maria J
Format: Article
Language:English
Subjects:
Aged
Alleles
Alzheimer Disease - epidemiology
Alzheimer Disease - genetics
Alzheimer Disease - psychology
Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy
Apolipoprotein E4 - genetics
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
DNA Probes
Emergency and intensive cardiocirculatory care. Cardiogenic shock. Coronary intensive care
Female
Genotype
Heterozygote
Humans
Intensive care medicine
Male
Medical sciences
Neurology
Polymorphism, Genetic - genetics
Presenilin-1 - genetics
Psychiatric Status Rating Scales
Spain - epidemiology
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Summary:Mutations of presenilin 1 (PSEN1) are associated with monogenic Alzheimer's disease (AD); polymorphisms at this gene may therefore be associated with the sporadic form of the disease. In fact, recent meta-analyses and whole-genome association studies indicate PSEN1 as one of the few genes significantly associated with AD risk. Several polymorphisms have been analyzed in PSEN1. The present work examined the possible modulation of the risk of AD by a PSEN1 polymorphism (dbSNP rs3025786) located in intron 7, which we found during a denaturing gradient gel electrophoresis mutation screening of the gene, and which was previously reported as 'suspected' in the public databases. The study of a Spanish case-control sample of 1,183 individuals showed this polymorphism to be associated with AD in an apolipoprotein E (APOE)-specific manner: more specifically, to carry the PSEN1 C allele was associated with a decreased AD risk among carriers of the APOE4 allele. Thus, the present results reinforce the possible involvement of PSEN1 in sporadic AD.
ISSN:1420-8008
1421-9824
DOI:10.1159/000165685