Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population.
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.
Di Natale
Manuela
M
Centro Regionale di Neurogenetica AS 6, Viale A.Perugini, 88046, Lamezia Terme (CZ), Italy.
Perri
Maria
M
Kawarai
Toshitaka
T
Maletta
Raffaele
R
Tomaino
Carmine
C
Sato
Christine
C
Nacmias
Benedetta
B
Shibata
Nobuto
N
Sorbi
Sandro
S
St George-Hyslop
Peter H
PH
Bruni
Amalia C
AC
Rogaeva
Ekaterina
E
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
D001057:Apolipoproteins E; D008565:Membrane Proteins; C508861:PSEN2 protein, human; D053766:Presenilin-2