title: SORL1 Gene is Associated with the Conversion from Mild Cognitive Impairment to Alzheimer's Disease.
abstract: 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 and AD (p = 0.01). In the MCI cohort, rs1010159 was associated with conversion to AD (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.
authors.affiliation: Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Piscopo
authors.affiliation: Memory Clinic, Department of Neurology and Psychiatry, University of Rome "Sapienza", Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Tosto
authors.affiliation: Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, Rome, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Belli
authors.affiliation: Memory Clinic, Department of Neurology and Psychiatry, University of Rome "Sapienza", Italy.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Talarico
authors.affiliation: Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Galimberti
authors.affiliation: Memory Clinic, Department of Neurology and Psychiatry, University of Rome "Sapienza", Italy.
authors.forename: Marina
authors.initials: M
authors.lastname: Gasparini
authors.affiliation: Memory Clinic, Department of Neurology and Psychiatry, University of Rome "Sapienza", Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Canevelli
authors.affiliation: Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, Rome, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Poleggi
authors.affiliation: Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, Rome, Italy.
authors.forename: Alessio
authors.initials: A
authors.lastname: Crestini
authors.affiliation: IRCCS - Istituto di Ricerche Farmacologiche "Mario Negri", Milan, Italy.
authors.forename: Diego
authors.initials: D
authors.lastname: Albani
authors.affiliation: IRCCS - Istituto di Ricerche Farmacologiche "Mario Negri", Milan, Italy.
authors.forename: Gianluigi
authors.initials: G
authors.lastname: Forloni
authors.affiliation: IRCCS - Istituto di Ricerche Farmacologiche "Mario Negri", Milan, Italy.
authors.forename: Ugo
authors.initials: U
authors.lastname: Lucca
authors.affiliation: Geriatric Division, Ospedali Regionali of Lugano and Mendrisio, Switzerland.
authors.forename: Pierluigi
authors.initials: P
authors.lastname: Quadri
authors.affiliation: IRCCS - Istituto di Ricerche Farmacologiche "Mario Negri", Milan, Italy.
authors.forename: Mauro
authors.initials: M
authors.lastname: Tettamanti
authors.affiliation: Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Fenoglio
authors.affiliation: Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Elio
authors.initials: E
authors.lastname: Scarpini
authors.affiliation: Memory Clinic, Department of Neurology and Psychiatry, University of Rome "Sapienza", Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Bruno
authors.affiliation: Department of National Centre of Epidemiology, Surveillance and Health Promotion, Istituto Superiore di Sanità, Rome, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Vanacore
authors.affiliation: Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, Rome, Italy.
authors.forename: Annamaria
authors.initials: A
authors.lastname: Confaloni
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics* / Q000503:physiopathology*; D016022:Case-Control Studies; D060825:Cognitive Dysfunction / Q000235:genetics* / Q000503:physiopathology*; D015331:Cohort Studies; D018450:Disease Progression; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007558:Italy; D026502:LDL-Receptor Related Proteins / Q000235:genetics*; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D009483:Neuropsychological Tests; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D016016:Proportional Hazards Models; D011569:Psychiatric Status Rating Scales
chemical_list: D026502:LDL-Receptor Related Proteins; D026901:Membrane Transport Proteins; C102582:SORL1 protein, human
keywords: Alzheimer’s disease; SORL1; mild cognitive impairment; single nucleotide polymorphisms