Journal article
A functional polymorphism within plasminogen activator urokinase (PLAU) is associated with Alzheimer's disease
Matthias Riemenschneider, Lidija Konta, Patricia Friedrich, Sandra Schwarz, Kevin Taddei, Frauke Neff, Alessandro Padovani, Heike Koelsch, Simon M Laws, Norman Klopp, Heike Bickeboeller, Stefan Wagenpfeil, Jakob C Mueller, Albert Rosenberger, Janine Diehl-Schmid, Silvana Archetti, Nicola Lautenschlager, Barbara Borroni, Ulrich Mueller, Thomas Illig Show all
HUMAN MOLECULAR GENETICS | OXFORD UNIV PRESS | Published : 2006
DOI: 10.1093/hmg/ddl167
Abstract
A number of susceptibility loci for Alzheimer's disease (AD) have been identified including a region on Chromosome 10q21-q22. Within this region the plasminogen activator urokinase gene (PLAU) was considered as a reasonable candidate from its functional implication in plasmin generation, a serine protease capable of degrading beta-Amyloid (Abeta) protein. We screened 56 single nucleotide polymorphisms (SNPs) around PLAU using 1751 individuals from four independent case-control samples (Munich, N=679; Bonn N=282; Brescia (Italy) N=219; Perth (Australia) N=557 and one discordant sib-pair sample (Munich N=622). In brain tissue samples of neuropathologically confirmed cases with AD (N=33) we ana..
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