Association of the RAGE G82S polymorphism with Alzheimer's disease

被引：41

作者：

Daborg, Jonny ^{[1
]}

von Otter, Malin ^{[2
]}

Sjolander, Annica ^{[2
]}

Nilsson, Staffan ^{[3
]}

Minthon, Lennart ^{[4
]}

Gustafson, Deborah R. ^{[2
]}

Skoog, Ingmar ^{[2
]}

Blennow, Kaj ^{[2
]}

Zetterberg, Henrik ^{[2
]}

机构：

[1] Univ Gothenburg, Dept Physiol, Inst Neurosci & Physiol, Sahlgrenska Acad, S-40530 Gothenburg, Sweden

[2] Univ Gothenburg, Dept Psychiat & Neurochem, Inst Neurosci & Physiol, Sahlgrenska Acad, S-40530 Gothenburg, Sweden

[3] Chalmers, Inst Math Sci, Dept Math Stat, S-41296 Gothenburg, Sweden

[4] Lund Univ, Clin Memory Res Unit, Dept Clin Sci Malmo, Lund, Sweden

来源：

JOURNAL OF NEURAL TRANSMISSION | 2010年 / 117卷 / 07期

基金：

瑞典研究理事会;

关键词：

Alzheimer's disease; RAGE; AGER; Advanced glycosylation end product-specific receptor; SNP; Haplotype; AMYLOID-BETA-PROTEIN; ADVANCED-GLYCATION-ENDPRODUCTS; END-PRODUCTS RAGE; SYNAPTIC PLASTICITY; CEREBROSPINAL-FLUID; SECRETED OLIGOMERS; CIRCULATING LEVELS; RECEPTOR; CONTRIBUTES; ACTIVATION;

D O I：

10.1007/s00702-010-0437-0

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：861 / 867

页数：7

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