A functional polymorphism within plasminogen activator urokinase (PLAU) is associated with Alzheimer's disease

M Riemenschneider; L Konta; P Friedrich; S Schwarz; K Taddei; F Neff; A Padovani; H Kölsch; SM Laws; N Klopp; H Bickeböller; S Wagenpfeil; JC Mueller; A Rosenberger; J Diehl-Schmid; S Archetti; N Lautenschlager; B Borroni; U Müller; T Illig; R Heun; R Egensperger; J Schlegel; H Förstl; RN Martins; A Kurz; M Krömmer; B Cramer; A Klimbacher; P Belcredi; G Laux; Eberl; HE Klein; B Ibach; E Koenig; B Romero; M Wolfersdorf; M Schüler; M Berger; Schmidtke; E Jost; M Schmauss; C Steber; R Heinrich; W Britta; HP Volz; M Jähnel; M Dose; Macquard; Bremer; N Braunisch; H Nickl; L Blaha; S Herpich; HW Dietl; R Schüttler; R Hess; M Philipp; A Wermuth

Journal article

A functional polymorphism within plasminogen activator urokinase (PLAU) is associated with Alzheimer's disease

M Riemenschneider, L Konta, P Friedrich, S Schwarz, K Taddei, F Neff, A Padovani, H Kölsch, SM Laws, N Klopp, H Bickeböller, S Wagenpfeil, JC Mueller, A Rosenberger, J Diehl-Schmid, S Archetti, N Lautenschlager, B Borroni, U Müller, T 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 10q21-22. 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 (Aβ) 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..

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