title: Polymorphisms of APOE and LRP genes in Brazilian individuals with Alzheimer disease.
abstract: Alzheimer disease (AD) is the most frequent cause of dementia in Western countries. Putative genetic risk factors for AD are polymorphisms in the apolipoprotein E (APOE) gene and in the low-density lipoprotein receptor-related protein (LRP) gene. Our objective was to investigate the role of the APOE coding region polymorphisms epsilon 2, epsilon 3, and epsilon 4 and APOE promoter variants A/T at position -491 and G/T at -219, as well as LRP polymorphism C/T, as risk factors for AD in Brazilian individuals. One hundred and twenty patients with probable AD, along with 120 controls were analyzed. A significant difference between patients and controls for epsilon 4 alleles was observed: frequency of this allele in AD was 0.31, and 0.10 in controls. Individuals with 2 epsilon 4 alleles had a higher risk for AD than subjects with only 1 such allele; presence of 1 epsilon 2 allele proved protective. The presence of the T allele of the -219 polymorphism was also associated with an increased risk of AD, but this polymorphism is in linkage disequilibrium with APOE epsilon polymorphisms. No significant differences between patients and controls were observed for -491 APOE or LRP polymorphisms. In this Brazilian population, both the epsilon 4 allele and T -219 polymorphism were associated with an increased risk for AD.
authors.affiliation: Behavioral and Cognitive Neurology Unit, Department of Neurology, Hospital das Clínicas, University of São Paulo School of Medicine, São Paulo, Brazil. vs.bahia@uol.com.br
authors.forename: Valéria Santoro
authors.initials: VS
authors.lastname: Bahia
authors.forename: Fernando
authors.initials: F
authors.lastname: Kok
authors.forename: Suely Nagahashi
authors.initials: SN
authors.lastname: Marie
authors.forename: Sueli Oba
authors.initials: SO
authors.lastname: Shinjo
authors.forename: Paulo
authors.initials: P
authors.lastname: Caramelli
authors.forename: Ricardo
authors.initials: R
authors.lastname: Nitrini
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics*; D001938:Brazil; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D015810:Linkage Disequilibrium; D026503:Low Density Lipoprotein Receptor-Related Protein-1 / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic
chemical_list: D001057:Apolipoproteins E; D026503:Low Density Lipoprotein Receptor-Related Protein-1