Association of the RAGE G82S polymorphism with Alzheimer's disease
Artikel i vetenskaplig tidskrift, 2010
The receptor for advanced glycation end-products (RAGE) has been implicated in several pathophysiological processes relevant to Alzheimer's disease (AD), including transport and synaptotoxicity of AD-associated amyloid beta (A beta) peptides. A recent Chinese study (Li et al. in J Neural Transm 117:97-104, 2010) suggested an association between the 82S allele of the functional single nucleotide polymorphism (SNP) G82S (rs2070600) in the RAGE-encoding gene AGER and risk of AD. The present study aimed to investigate associations between AGER, AD diagnosis, cognitive scores and cerebrospinal fluid AD biomarkers in a European cohort of 316 neurochemically verified AD cases and 579 controls. Aside from G82S, three additional tag SNPs were analyzed to cover the common genetic variation in AGER. The 82S allele was associated with increased risk of AD (P (c) = 0.04, OR = 2.0, 95% CI 1.2-3.4). There was no genetic interaction between AGER 82S and APOE epsilon 4 in producing increased risk of AD (P = 0.4), and none of the AGER SNPs showed association with A beta(42), T-tau, P-tau(181) or mini-mental state examination scores. The data speak for a weak, but significant effect of AGER on risk of AD.
contributes
circulating levels
product-specific receptor
end-products
cerebrospinal-fluid
SNP
amyloid-beta-protein
AGER
activation
receptor
synaptic plasticity
Advanced glycosylation end
Haplotype
Alzheimer's disease
secreted oligomers
rage
RAGE
advanced-glycation-endproducts
Författare
Jonny Daborg
Göteborgs universitet
Malin von Otter
Göteborgs universitet
Annica Sjölander
Göteborgs universitet
Staffan Nilsson
Göteborgs universitet
Chalmers, Matematiska vetenskaper, matematisk statistik
L. Minthon
Lunds Universitet
Deborah Gustafson
Göteborgs universitet
Ingmar Skoog
Göteborgs universitet
Kaj Blennow
Göteborgs universitet
Henrik Zetterberg
Göteborgs universitet
Journal of Neural Transmission
03009564 (ISSN) 14351463 (eISSN)
Vol. 117 7 861-867Ämneskategorier (SSIF 2011)
Fysiologi
DOI
10.1007/s00702-010-0437-0