Association of SORL1 alleles with late-onset Alzheimer's disease. findings from the GIGAS_LOAD study and mega-analysis

Paolo Olgiati, Antonis Politis, Diego Albani, Serena Rodilossi, Letizia Polito, Eleonora Ateri, Aikaterini Zisaki, Christina Piperi, Ioannis Liappas, Evangelia Stamouli, Antonis Mailis, Anna Rita Atti, Barbara Ferrari, Valentina Morini, Francesca Moretti, Gloria Biella, Gianluigi Forloni, George N. Papadimitriou, Diana De Ronchi, Anastasios KalofoutisAlessandro Serretti

Research output: Contribution to journalArticlepeer-review


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 lateonset 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

Original languageEnglish
Pages (from-to)491-499
Number of pages9
JournalCurrent Alzheimer Research
Issue number4
Publication statusPublished - May 2012


  • Alzheimer
  • Caucasian
  • Gene
  • Mega-analysis
  • Multi-center
  • SORL1

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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