title: Cathepsin D polymorphism in Italian elderly subjects with sporadic late-onset Alzheimer's disease.
abstract: Alzheimer's disease (AD) is the most frequent cause of dementia in elderly people. Different pathological pathways have been involved in the development of late-onset AD. Among them, numerous genes have been proposed as pathogenetic factors acting independently or interactively. It has been suggested that the cathepsin D gene (CTSD) is associated with late-onset AD. We analyzed an exonic polymorphism of the CTSD gene [C-->T (Ala-->Val) transition at position 224] in 142 AD patients and 120 controls. Our data indicate no significant association between this polymorphism and the risk of AD. Likewise there was no association between CTSD polymorphism and the apolipoprotein E genotype in the risk of developing AD.
authors.affiliation: Department of Gerontology and Geriatrics, University of Perugia School of Medicine, Perugia, Italy.
authors.forename: Tiziana
authors.initials: T
authors.lastname: Ingegni
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Nocentini
authors.forename: Elena
authors.initials: E
authors.lastname: Mariani
authors.forename: Liana
authors.initials: L
authors.lastname: Spazzafumo
authors.forename: M Cristina
authors.initials: MC
authors.lastname: Polidori
authors.forename: Antonio
authors.initials: A
authors.lastname: Cherubini
authors.forename: Marco
authors.initials: M
authors.lastname: Catani
authors.forename: Donatella
authors.initials: D
authors.lastname: Cadini
authors.forename: Umberto
authors.initials: U
authors.lastname: Senin
authors.forename: Patrizia
authors.initials: P
authors.lastname: Mecocci
mesh_terms: D017668:Age of Onset; D000368:Aged; D000483:Alleles; D000544:Alzheimer Disease / Q000453:epidemiology* / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D016022:Case-Control Studies; D002402:Cathepsin D / Q000235:genetics*; D003596:Cytosine; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D013941:Thymine
chemical_list: D001057:Apolipoproteins E; D003596:Cytosine; D002402:Cathepsin D; D013941:Thymine