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	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
Journal	Journal of Alzheimer's disease : JAD (J Alzheimers Dis) Vol. 46 Issue 3 Pg. 771-6 ( 2015) ISSN: 1875-8908 [Electronic] Netherlands
PMID	25881907 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References	LDL-Receptor Related Proteins Membrane Transport Proteins SORL1 protein, human
Topics	Aged Aged, 80 and over Alzheimer Disease (genetics, physiopathology) Case-Control Studies Cognitive Dysfunction (genetics, physiopathology) Cohort Studies Disease Progression Female Genetic Association Studies Genotype Humans Italy LDL-Receptor Related Proteins (genetics) Male Membrane Transport Proteins (genetics) Middle Aged Neuropsychological Tests Polymorphism, Single Nucleotide (genetics) Proportional Hazards Models Psychiatric Status Rating Scales

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