@article{3155358, title = "Association of SORL1 Alleles with Late-Onset Alzheimer’s Disease. Findings from the GIGAS_LOAD Study and Mega-Analysis", author = "Olgiati, Paolo and Politis, Antonis and Albani, Diego and Rodilossi, and Serena and Polito, Letizia and Ateri, Eleonora and Zisaki, Aikaterini and and Piperi, Christina and Liappas, Ioannis and Stamouli, Evangelia and and Mailis, Antonis and Atti, Anna Rita and Ferrari, Barbara and Morini, and Valentina and Moretti, Francesca and Biella, Gloria and Forloni, and Gianluigi and Papadimitriou, George N. and De Ronchi, Diana and and Kalofoutis, Anastasios and Serretti, Alessandro", journal = "Current Alzheimer Research", year = "2012", volume = "9", number = "4", pages = "491-499", publisher = "BENTHAM SCIENCE PUBL LTD", issn = "1567-2050", doi = "10.2174/156720512800492431", keywords = "SORL1; Alzheimer; gene; Caucasian; multi-center; mega-analysis", abstract = "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." }