SORL1 gene is associated with the conversion from mild cognitive impairment to Alzheimer's disease

Paola Piscopo, Giuseppe Tosto, Chiara Belli, Giuseppina Talarico, Daniela Galimberti, Marina Gasparini, Marco Canevelli, Anna Poleggi, Alessio Crestini, Diego Albani, Gianluigi Forloni, Ugo Lucca, Pierluigi Quadri, Mauro Tettamanti, Chiara Fenoglio, Elio Scarpini, Giuseppe Bruno, Nicola Vanacore, Annamaria Confaloni, Emilio Di Maria

Research output: Contribution to journalArticlepeer-review


Several studies have established the sortilin-related receptor gene (SORL1) as a susceptibility locus for Alzheimer's disease (AD). Single nucleotide polymorphisms of SORL1 reported in literature as being associated with AD were investigated in an Italian case-control data set, and their role as a risk factor of conversion to AD was studied in an independent sample of subjects diagnosed with mild cognitive impairment (MCI) at baseline. rs641120, rs2070045, and rs1010159 were genotyped in 734 subjects diagnosed with AD (n = 338) and MCI (n = 181) and in healthy controls (n = 215). Our results confirmed the association between rs641120 andAD(p = 0.01). In theMCIcohort, rs1010159was associated with conversion toAD(HR = 1.56, p = 0.002). Taken together, these findings confirm that SORL1 is associated with AD and might be a potential tool for identifying MCI subjects at high risk of conversion to AD.

Original languageEnglish
Pages (from-to)771-776
Number of pages6
JournalJournal of Alzheimer's Disease
Issue number3
Publication statusPublished - Jun 25 2015


  • Alzheimer's disease
  • mild cognitive impairment
  • single nucleotide polymorphisms
  • SORL1

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Geriatrics and Gerontology
  • Clinical Psychology


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