Dementia and Geriatric Cognitive Disorders
Original Research Article
Presenilin 1 Polymorphism Associated with Alzheimer’s Disease in Apolipoprotein E4CarriersMartínez-García A.a, b · Aldudo J.a, b · Recuero M.a, b · Sastre I.a, b · Vilella-Cuadrada E.d · Rosich-Estragó M.e · Frank A.b, c · Valdivieso F.a, b · Bullido M.J.a, baDepartamento de Biología Molecular y Centro de Biología Molecular Severo Ochoa (C.S.I.C.-U.A.M.), Universidad Autónoma, Cantoblanco, bCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), y cServicio de Neurología, Hospital Universitario La Paz (UAM), Madrid, dUnitat de Psiquiatria i Psicologia Mèdica, Facultat de Medicina i Ciències de la Salut, Universitat Rovira i Virgili, y eHospital Psiquiàtric Universitari Institut Pere Mata (URV), Reus, España
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Dement Geriatr Cogn Disord 2008;26:440–444
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Article / Publication Details
First-Page Preview
Accepted: August 14, 2008
Published online: October 29, 2008
Issue release date: November 2008
Number of Print Pages: 5
Number of Figures: 0
Number of Tables: 3
ISSN: 1420-8008 (Print)
eISSN: 1421-9824 (Online)
For additional information: https://www.karger.com/DEM
Abstract
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.
© 2008 S. Karger AG, Basel
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Article / Publication Details
First-Page Preview
Accepted: August 14, 2008
Published online: October 29, 2008
Issue release date: November 2008
Number of Print Pages: 5
Number of Figures: 0
Number of Tables: 3
ISSN: 1420-8008 (Print)
eISSN: 1421-9824 (Online)
For additional information: https://www.karger.com/DEM
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