title: Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population.
abstract: Alzheimer disease (AD) is the most common neurodegenerative disorder of aging. Identifying novel AD genetic risk factors is important for understanding its pathogenesis. A recent study demonstrated that the deletion of adenosine in the promoter region of the presenilin 2 gene (PS2) is a susceptibility factor for early-onset AD. The objective of our study was to test the possibility that this variation is associated with AD in the Italian population. A case-control association study was performed, using 200 sporadic AD cases and 160 normal controls matched by age, gender and ethnicity. The current study does not support the notion that the polymorphism in the PS2 gene constitutes a risk factor for either late-onset or early-onset AD, which means that other genetic factors play a role in the development of AD in the Italian population.
authors.affiliation: Centro Regionale di Neurogenetica AS 6, Viale A.Perugini, 88046, Lamezia Terme (CZ), Italy.
authors.forename: Manuela
authors.initials: M
authors.lastname: Di Natale
authors.forename: Maria
authors.initials: M
authors.lastname: Perri
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Kawarai
authors.forename: Raffaele
authors.initials: R
authors.lastname: Maletta
authors.forename: Carmine
authors.initials: C
authors.lastname: Tomaino
authors.forename: Christine
authors.initials: C
authors.lastname: Sato
authors.forename: Benedetta
authors.initials: B
authors.lastname: Nacmias
authors.forename: Nobuto
authors.initials: N
authors.lastname: Shibata
authors.forename: Sandro
authors.initials: S
authors.lastname: Sorbi
authors.forename: Peter H
authors.initials: PH
authors.lastname: St George-Hyslop
authors.forename: Amalia C
authors.initials: AC
authors.lastname: Bruni
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Rogaeva
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D016022:Case-Control Studies; D005260:Female; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D053766:Presenilin-2; D011401:Promoter Regions, Genetic / Q000235:genetics; D012307:Risk Factors
chemical_list: D001057:Apolipoproteins E; D008565:Membrane Proteins; C508861:PSEN2 protein, human; D053766:Presenilin-2