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Original Research Article

Candidate Gene Association Studies in Sporadic Alzheimer’s Disease

Combarros O. · Alvarez-Arcaya A. · Sánchez-Guerra M. · Infante J. · Berciano J.

Author affiliations

Neurology Service, ‘Marqués de Valdecilla’ University Hospital, University of Cantabria, Santander, Spain

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Dement Geriatr Cogn Disord 2002;14:41–54

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Article / Publication Details

First-Page Preview
Abstract of Original Research Article

Published online: June 05, 2002
Issue release date: June 2002

Number of Print Pages: 14
Number of Figures: 0
Number of Tables: 1

ISSN: 1420-8008 (Print)
eISSN: 1421-9824 (Online)

For additional information: https://www.karger.com/DEM

Abstract

The genetics of Alzheimer’s disease (AD) is complex. Three genes (amyloid precursor protein, presenilin 1 and presenilin 2) have been described in the relatively rare, early-onset, autosomal dominant familial form of AD. In the common, non-familial (sporadic) late-onset AD, the major known genetic risk factor is the Ε4 allele of the apolipoprotein E (APOE) gene. However, at least half of the people who develop AD do not carry this allele, and not all people who do carry this allele develop AD even if they live to an old age. Therefore, approximately 30 other candidate genes involving a protein in a critical pathway in the pathogenesis of disease (principally interaction with amyloid-β, oxidative stress and inflammation/apoptosis) have been considered as risk factors for sporadic AD. Then these genes have been sequenced in search of genetic variability or polymorphisms, and each putative polymorphism has been reported to alter the risk of AD either directly or by an interaction with the APOE Ε4 allele. However, positive-association studies with these candidate genes have not been consistently confirmed.

© 2002 S. Karger AG, Basel


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Abstract of Original Research Article

Published online: June 05, 2002
Issue release date: June 2002

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ISSN: 1420-8008 (Print)
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