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.

circulating levels

secreted oligomers

Alzheimer's disease

RAGE

Haplotype

SNP

receptor

cerebrospinal-fluid

contributes

rage

product-specific receptor

end-products

amyloid-beta-protein

synaptic plasticity

advanced-glycation-endproducts

Advanced glycosylation end

activation

AGER

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

0300-9564 (ISSN)

Vol. 117 7 861-867

Ämneskategorier

Fysiologi

DOI

10.1007/s00702-010-0437-0

Mer information

Senast uppdaterat

2018-03-02