title: No association between low density lipoprotein receptor genetic variants and Alzheimer's disease risk.
abstract: A number of studies suggest that brain cholesterol metabolism may play a role in Alzheimer's disease (AD) development, probably through modulation of amyloid beta production. The discovery that apolipoprotein E (APOE) epsilon4 allele is a risk factor for sporadic AD raises the possibility that the receptors to which APOE binds on the surface of neurons are also involved in the neurodegenerative process. To evaluate the relationship between low density lipoprotein receptor (LDLR) genetic variant and AD, independently or in concert with the APOE epsilon4 allele, we examined three LDLR polymorphisms located in exons 8 (rs 11669576), 10 (rs 5930), and 13 (rs 5925), in a large group of 322 Spanish AD patients and 314 controls. The current study does not demonstrate an association between LDLR genotypes or haplotypes and AD, neither in the total sample nor when the populations were stratified for the presence or absence of the APOE epsilon4 allele.
authors.affiliation: Neurology Service, "Marqués de Valdecilla" University Hospital (University of Cantabria), Santander, Spain.
authors.forename: Eloy
authors.initials: E
authors.lastname: Rodríguez
authors.forename: Ignacio
authors.initials: I
authors.lastname: Mateo
authors.forename: Javier
authors.initials: J
authors.lastname: Llorca
authors.forename: Coro
authors.initials: C
authors.lastname: Sánchez-Quintana
authors.forename: Jon
authors.initials: J
authors.lastname: Infante
authors.forename: José
authors.initials: J
authors.lastname: Berciano
authors.forename: Onofre
authors.initials: O
authors.lastname: Combarros
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011973:Receptors, LDL / Q000235:genetics*; D012307:Risk Factors
chemical_list: D011973:Receptors, LDL