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Title

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
KeywordsGenetics
Single nucleotide polymorphism
Multiligand receptor
Amyloid
Transcriptional activity
Issue DateJun-2010
PublisherWiley-Blackwell
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
URIhttp://hdl.handle.net/10261/37585
DOI10.1002/ajmg.b.31056
ISSN1552-4841
Appears in Collections:(CBM) Artículos
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