title: Haplogroup analysis of the risk associated with APOE promoter polymorphisms (-219T/G, -491A/T and -427T/C) in Colombian Alzheimer's disease patients.
abstract: Results analyzing the association between polymorphisms in the promoter region of the apolipoprotein E (APOE) gene and Alzheimer's disease (AD) are contradictory. We studied the association of three polymorphisms in the APOE promoter (-219T/G, -491A/T and -427T/C) with AD in a sample of the Colombian population. The polymorphism -491A/T confers increased risk for AD associated with AA genotype independent of APOEe4 allele (odds ratio (OR): 2.64) and more pronounced in men (OR: 6.07). Genotypes TT and TG of -219T/G showed a significant association with AD, but this was lost in an adjusted model. We did not find any association with -427T/C polymorphism. Using a haplogroup analysis of the promoter polymorphisms, we further confirmed their independent contribution as genetic risk factors for AD.
authors.affiliation: Instituto de Genética, Universidad Nacional de Colombia, Bogotá, Colombia.
authors.forename: Glenda
authors.initials: G
authors.lastname: Parra-Bonilla
authors.forename: Gonzalo
authors.initials: G
authors.lastname: Arboleda
authors.forename: Juan
authors.initials: J
authors.lastname: Yunis
authors.forename: Eugenia
authors.initials: E
authors.lastname: Solano
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Pardo
authors.forename: Gabriel
authors.initials: G
authors.lastname: Arango
authors.forename: Daniel
authors.initials: D
authors.lastname: Hedmont
authors.forename: Humberto
authors.initials: H
authors.lastname: Arboleda
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D001057:Apolipoproteins E / Q000235:genetics*; D003105:Colombia; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005828:Genetics, Population; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012307:Risk Factors; D012737:Sex Factors
chemical_list: D001057:Apolipoproteins E