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Lack Of Evidence To Support The Association Of Polymorphisms Within The Alpha- And Beta-Secretase Genes (Adam10/Bace1) With Alzheimer's Disease, Simon Laws, Klaus Eckart, Patricia Friedrich, Alexander Kurz, H Forstl, Matthias Riemenschneider
Lack Of Evidence To Support The Association Of Polymorphisms Within The Alpha- And Beta-Secretase Genes (Adam10/Bace1) With Alzheimer's Disease, Simon Laws, Klaus Eckart, Patricia Friedrich, Alexander Kurz, H Forstl, Matthias Riemenschneider
Simon Laws
Cleavage of the amyloid precursor protein (APP) occurs through either an amyloidogenic or a non-amyloidogenic pathway. The first results in the generation of beta-amyloid (A ) and is initiated through cleavage by the beta-site amyloid beta A4 precursor protein-cleaving enzyme 1 (BACE1). The second precludes the formation of A through cleavage by alpha-secretase, an enzyme’s activity demonstrated in a disintegrin metalloproteinase, ADAM10. To assess the contribution of variants in the BACE1 and ADAM10 genes we used a detailed fine mapping approach. Genotyping of 11 single nucleotide polymorphisms covering the complete BACE1 gene, and 27 covering the entire ADAM10 gene, revealed …
Tnf Polymorphisms In Alzheimer Disease And Functional Implications On Csf Beta-Amyloid Levels, Simon Laws, Robert Perneczky, Stefan Wagenpfeil, Ulrich Muller, Hans Forstl, Ralph Martins, Alexander Kurz, Matthias Riemenschneider
Tnf Polymorphisms In Alzheimer Disease And Functional Implications On Csf Beta-Amyloid Levels, Simon Laws, Robert Perneczky, Stefan Wagenpfeil, Ulrich Muller, Hans Forstl, Ralph Martins, Alexander Kurz, Matthias Riemenschneider
Simon Laws
Alzheimer disease (AD), vascular dementia, and stroke are all associated with inflammation though their respective initiating factors differ. Recently a polymorphism in the proinflammatory cytokine tumor necrosis factor (TNF), in association with apolipoprotein E (APOE), was reported to increase AD risk. Two SNPs, rs1799724 (–850C>T; NT_007592.14:g.22400733C>T) and rs1800629 (–308G>A; [NT_007592.14:g.22401282G>A]), and the APOE polymorphism were genotyped in 506 patients with sporadic AD and in 277 cognitively healthy controls. In a subset of 90 individuals we also investigated whether these SNPs exerted any functional effects on cerebrospinal fluid (CSF) beta-amyloid (Aβ) levels. The frequency of the rs1799724 …