Association of the RAGE G82S polymorphism with Alzheimer's disease
Journal article, 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

Author

Jonny Daborg

University of Gothenburg

Malin von Otter

University of Gothenburg

Annica Sjölander

University of Gothenburg

Staffan Nilsson

University of Gothenburg

Chalmers, Mathematical Sciences, Mathematical Statistics

L. Minthon

Lund University

Deborah Gustafson

University of Gothenburg

Ingmar Skoog

University of Gothenburg

Kaj Blennow

University of Gothenburg

Henrik Zetterberg

University of Gothenburg

Journal of Neural Transmission

0300-9564 (ISSN)

Vol. 117 7 861-867

Subject Categories

Physiology

DOI

10.1007/s00702-010-0437-0

More information

Latest update

3/2/2018 9