Περίληψη:
The pathophysiology of Alzheimer’s disease (AD) is influenced by
sorting-protein related receptor (sorLa) that is less expressed in AD
patients. The gene encoding sorLa (SORL1) has been investigated as a
susceptibility factor for late-onset AD (LOAD) with conflicting results.
Our objectives were to confirm the association between SORL1 SNPs and
LOAD in two independent South-European centers and to perform a
mega-analysis of published samples. We analyzed three SORL1 SNPs (intron
6: rs668387; rs689021; rs641120) from the Greece-Italy Genetic
Association Study on late-onset AD (GIGAS_LOAD). Greek sample included
96 patients with LOAD (DSM-IV) and 120 unrelated controls. In Italy, a
community-based sample is ongoing. 47 LOAD patients and 165 controls
were recruited until study endpoint. These samples and previously
published ones (Alzgene) were pooled as in a single study. A test for
trend was used to analyze genotype association. In the GIGAS_LOAD
sample no association was detected between SORL1 genotypes and LOAD.
Conversely all SNPs were associated with LOAD in mega-analysis based on
ordinal classification of genotypes (Armitage’s test: p<0.001). Although
our analysis of pooled samples has positive results for the association
between SORL1 and AD, there is substantial heterogeneity across studies.
Thus further examination into SORL1 SNPs and the population is necessary
to determine the role of SORL1 in LOAD.
Συγγραφείς:
Olgiati, Paolo
Politis, Antonis
Albani, Diego
Rodilossi,
Serena
Polito, Letizia
Ateri, Eleonora
Zisaki, Aikaterini
and Piperi, Christina
Liappas, Ioannis
Stamouli, Evangelia and
Mailis, Antonis
Atti, Anna Rita
Ferrari, Barbara
Morini,
Valentina
Moretti, Francesca
Biella, Gloria
Forloni,
Gianluigi
Papadimitriou, George N.
De Ronchi, Diana and
Kalofoutis, Anastasios
Serretti, Alessandro
