title: Cathepsin D gene exon 2 polymorphism and sporadic Alzheimer's disease.
abstract: It has recently been reported that a genetic polymorphism in exon 2 of the cathepsin D gene conferred increased risk for development of Alzheimer's disease (AD). Because of the potential importance of this report we tested this association in a clinically well-defined group of AD patients and age and sex matched control subjects from the relatively genetically homogeneous Northern Ireland population. This study failed to confirm the reported association between the cathepsin D exon 2 polymorphism and AD. We conclude that if an association exists between this polymorphism and AD it is likely to be small.
authors.affiliation: Department of Geriatric Medicine, The Queen's University of Belfast, UK. s.mcilroy@qub.ac.uk
authors.forename: S P
authors.initials: SP
authors.lastname: McIlroy
authors.forename: K B
authors.initials: KB
authors.lastname: Dynan
authors.forename: B M
authors.initials: BM
authors.lastname: McGleenon
authors.forename: J T
authors.initials: JT
authors.lastname: Lawson
authors.forename: A P
authors.initials: AP
authors.lastname: Passmore
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D016022:Case-Control Studies; D002402:Cathepsin D / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic
chemical_list: D002402:Cathepsin D