title: No association between an intronic biallelic polymorphism of the FE65 gene and Alzheimer's disease.
abstract: The cleavage of the amyloid precursor protein (APP) into amyloidogenic components (Abeta) is a central event in the pathogenesis of Alzheimer's disease (AD). FE65 is a protein that is involved in APP metabolism and may facilitate the production of Abeta. Recently, an intronic polymorphism of the gene encoding FE65 (FE65) was associated with altered risk for the development of sporadic AD. In our sample of 102 AD patients and 351 non-demented controls we did not replicate the association between FE65 and AD. Moreover, we observed no risk-modifying interaction and no linkage disequilibrium between FE65 and the gene encoding the acid protease cathepsin D (catD), which - like FE65 - is involved in APP metabolism and is also located on chromosome 11p15. We conclude that, whereas FE65 is implicated in AD pathology, the gene encoding FE65 does not appear to confer a substantial risk for AD.
authors.affiliation: Department of Psychiatry Research, University of Zurich, CH-8029 Zurich, Switzerland. papas@bli.unizh.ch
authors.forename: A
authors.initials: A
authors.lastname: Papassotiropoulos
authors.forename: M
authors.initials: M
authors.lastname: Bagli
authors.forename: K
authors.initials: K
authors.lastname: Becker
authors.forename: F
authors.initials: F
authors.lastname: Jessen
authors.forename: W
authors.initials: W
authors.lastname: Maier
authors.forename: M L
authors.initials: ML
authors.lastname: Rao
authors.forename: M
authors.initials: M
authors.lastname: Ludwig
authors.forename: R
authors.initials: R
authors.lastname: Heun
mesh_terms: D000368:Aged; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D002402:Cathepsin D / Q000235:genetics*; D005260:Female; D006801:Humans; D007438:Introns; D015810:Linkage Disequilibrium; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: C091042:APBB1 protein, human; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D002402:Cathepsin D