title: Two polymorphisms of presenilin-2 gene (PSEN2) 5' regulatory region are not associated with Alzheimer's disease (AD) in the Polish population.
abstract: Presenilin 2 gene (PSEN2) is one of the causative genes for familial Alzheimer's disease. A delA polymorphism located in PSEN2 promoter was proposed to be a risk factor for early-onset AD. We examined association between AD and PSEN2 polymorphisms located in two 5'UTR regions in group of 217 late-onset AD patients, 109 mild cognitive impairment patients, and 225 non-demented control subjects. No significant differences for genotype and allele distributions of a delA and a novel insAC polymorphisms in the studied groups as compared to controls were observed. Univariate and multivariate risk estimation shows that neither delA, insAC alleles nor the genotypes are risk factors for AD. No significant interaction between the APOE4 and PSEN2 polymorphisms was found. A bioinformatic analysis showed that delA polymorphism influences binding sites of transcription factors involved in the cellular processes related to AD. The rare variants identified in exon 3 of the PSEN2 could have a potential influence on PSEN2 transcript splicing.
authors: Medical Research Center, Department of Neurodegenerative Disorders, Polish Academy of Sciences, Warszawa, Poland.
authors: M
authors: M
authors: Gacia
authors: K
authors: K
authors: Safranow
authors: T
authors: T
authors: Gabryelewicz
authors: M
authors: M
authors: Styczyńska
authors: B
authors: B
authors: Pepłońska
authors: V
authors: V
authors: Dziedziejko
authors: K
authors: K
authors: Jakubowska
authors: D
authors: D
authors: Chlubek
authors: C
authors: C
authors: Zekanowski
authors: M
authors: M
authors: Barcikowska
mesh_terms: D017398:Alternative Splicing; D000544:Alzheimer Disease / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D011044:Poland; D011110:Polymorphism, Genetic; D053766:Presenilin-2 / Q000235:genetics*; D011401:Promoter Regions, Genetic; D012307:Risk Factors
chemical_list: D053766:Presenilin-2