English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/37585
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE
Exportar a otros formatos:


A megalin polymorphism associated with promoter activity and Alzheimer's disease risk

AuthorsVargas, Teo; Bullido, María Jesús ; Martínez, Ana ; Antequera, Desiree; Clarimón, Jordi; Rosich-Estrago, Marcel; Martín-Requero, Ángeles ; Mateo, Ignacio; Rodríguez-Rodríguez, Eloy; Vilella-Cuadrada, Elisabet; Frank, Ana; Lleó, Alberto; Molina-Porcel, Laura; Blesa, Rafael; Combarros, Onofre; Gómez-Isla, Teresa; Bermejo-Pareja, Félix; Valdivieso Amate, Fernando; Carro, Eva
Single nucleotide polymorphism
Multiligand receptor
Transcriptional activity
Issue DateJun-2010
CitationAmerican Journal of Medical Genetics - Neuropsych Genetics Part B 153B(4):895-902 (2010)
AbstractElevated cerebral levels of amyloid beta-protein (Aβ) occur in Alzheimer's disease (AD), yet only a few patients show evidence of increased Aβ production. This observation suggests that many, perhaps most, cases of AD are caused by faulty clearance of Aβ. Megalin, which plays an important role in mediating Aβ clearance, is an attractive candidate gene for genetic association with AD. To investigate this hypothesis, we analyzed the megalin gene in a population of 2,183 subjects. Genetic analysis indicated that the rs3755166 (G/A) polymorphism located in the megalin promoter associated with risk for AD, dependently of apolipoprotein E genotype. The rs3755166 AA genotype frequency was significantly greater in AD patients than in control subjects. Furthermore, the luciferase reporter assay indicated that the rs3755166 A variant has 20% less transcriptional activity than the rs3755166 G variant. This study provides strong evidence that this megalin polymorphism confers a greater risk for AD, and supports a biological role for megalin in the neurodegenerative processes involved in AD
Publisher version (URL)http://dx.doi.org/10.1002/ajmg.b.31056
Appears in Collections:(CBM) Artículos
Files in This Item:
There are no files associated with this item.
Show full item record
Review this work

Related articles:

WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.