Association of the RAGE G82S polymorphism with Alzheimer’s disease

Daborg, Jonny; Otter, Malin von; Sjölander, Annica; Nilsson, Staffan; Minthon, Lennart; Gustafson, Deborah; Skoog, Ingmar; Blennow, Kaj; Zetterberg, Henrik

doi:10.1007/s00702-010-0437-0

Cited by 47 publications

(33 citation statements)

References 47 publications

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“…PCR products were digested with the respective restriction endonucleases (New England Biolabs, Inc., Ipswich, MA, USA), and the resulting fragments were separated on a 2.5% agarose gel containing 0.5 mg/mL ethidium bromide by electrophoresis at 100 V and visualized under UV light. Primer design was based on published sequences (Jurajda et al, 2002;Jin et al, 2005;Li et al, 2007;Checa et al, 2008;Kalousova et al, 2009;Daborg et al, 2010). The details of the primers, PCR conditions, restriction enzymes, and genotype configurations are shown in …”

Section: Selection and Genotyping Of Polymorphismsmentioning

confidence: 99%

Effect of RAGE polymorphisms on susceptibility to and severity of osteoarthritis in a Han Chinese population: a case-control study

Yang¹,

Chuang²,

Fang³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Recent studies have revealed that the inflammatory process plays a role in the pathogenesis of osteoarthritis (OA). The S100 family and receptor for advanced glycation end products (RAGE) 11363 RAGE gene in osteoarthritis ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (3): 11362-11370 (2015) participate in regulating inflammation, even in the production of matrix metalloproteinases (MMPs). MMP-1 degrades cartilage, which may result in OA development. Moreover, polymorphisms in RAGE, S100A8, and MMP-1 have a marked effect on ligand binding and transcription regulating. In this study, we investigated the potential genetic contribution of the RAGE, S100A8, and MMP-1 genes to OA. We performed a matched case-control association study and genotyped OA patients and healthy controls, who were analyzed by polymerase chain reaction-restriction fragment length polymorphism assays. A total of 207 patients were diagnosed with knee OA and underwent total knee replacement. The control group included 207 individuals who had standard X-rays of the knee joints to confirm K/L < 2 and were matched by age and gender. Single-nucleotide polymorphisms in RAGE (-429T/C, -374T/A, and 557G/A), S100A8 (rs3795391A/G), and MMP-1 (-1607 1G/2G, -755G/T, and -519A/G) were evaluated. RAGE -374T/A, S100A8 rs3795391A/G, MMP-1 -1607 1G/2G, -755G/T, and -519A/G showed no significant difference between OA patients and healthy controls. RAGE -429T/C and 557G/A showed a significant association between OA patients and healthy controls (P = 0.016 and 0.047, respectively). In haplotype analyses, no RAGE and MMP-1 haplotypes showed associations with OA. Our results suggest that the investigated polymorphism in the RAGE gene play a role in OA in the Han Chinese population.

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Section: Selection and Genotyping Of Polymorphismsmentioning

confidence: 99%

Effect of RAGE polymorphisms on susceptibility to and severity of osteoarthritis in a Han Chinese population: a case-control study

Yang¹,

Chuang²,

Fang³

et al. 2015

Genet. Mol. Res.

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“…29 Recently, 2 independent studies showed an association between the 82Ser allele and the risk for Alzheimer disease. 2,30 Inter estingly, cognitive deficits 31 and neuronal atrophy 32 are suggested to be prevalent in patients with schizophrenia, and it is thus possible that the Gly82Ser polymorphism is a common denominator for cognitive impairment.…”

Section: Discussionmentioning

confidence: 99%

“…1 The ligands binding to RAGE include advanced glycation end products that arise during certain metabolic conditions and normal aging as well as amyloid fibrils, which make up the amyloid plaques seen in the brains of patients with Alzheimer disease. 2 Other well-studied ligands are the proinflammatory and neurotrophic members of the S100/ calgranulin family, S100A12 and S100B, which are secreted mostly by astrocytes in the central nervous system. 3 Recent studies have reported elevated serum and cerebrospinal fluid (CSF) levels of S100B in patients with schizophrenia, resulting in the hypothesis that astrocytes are either activated, damaged or dysfunctional in these patients.…”

Section: Introductionmentioning

confidence: 99%

Is the Gly82Ser polymorphism in the RAGE gene relevant to schizophrenia and the personality trait psychoticism?

Suchankova¹,

Klang²,

Cavanna³

et al. 2012

J Psychiatry Neurosci

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“…Several reasons may possibly account for the discrepancy between this study and ours: 1. Ethnic differences: Several studies reported that the genotype distribution of RAGE gene was quite variable among ethnic populations, especially between Caucasian and Chinese [45,46,47,48]. 2.…”

Section: Discussionmentioning

confidence: 99%

Polymorphism of the RAGE Affects the Serum Inflammatory Levels and Risk of Ischemic Stroke in a Chinese Population

Xiaoping

Chen

Hou

et al. 2013

Cell Physiol Biochem

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Background: Increasing evidence shows that inflammation plays an important role in the occurrence and progression of acute ischemic stroke. The receptor for advanced glycation end products (RAGE) has been documented to involve in the pathogenic mechanisms of a variety of neurological diseases, including ischemic stroke (IS). However, the impact of RAGE gene polymorphisms on the susceptibility to IS has not been reported. We thus explored the association between RAGE gene polymorphisms and the susceptibility to IS. Method: A total of 384 patients with IS and 425 healthy controls were enrolled in this study. Three genetic polymorphisms of RAGE gene (82G/S, -429T/C and -374T/A) were determined. The serum levels of soluble RAGE (sRAGE), intetleukin-6 (IL-6), high sensitivity-C reaction protein (hs-CRP) and plasminogen activator inhibitor-1 (PAI-1) were detected. Results: Among the studied polymorphisms, only the polymorphism at 82G/S of RAGE gene was associated with the risk for ischemic stroke irrespective of the stroke subtypes. The 82S/S homozygote carriers had a significantly increased risk for ischemic stroke [adjusted odds ratio (OR): 2.297; p<0.001]. The haplotype analyses showed that the C_-429S₈₂T_-374 and T_-429S₈₂A_-374 had higher risk to develop IS (OR=1.864 and 1.931, respectively, all p<0.01), while the C_-429G₈₂T_-374 showed a protective effect against IS susceptibility (OR=0.568, p=0.001). In addition, the 82S/S homozygote carriers had a higher inflammatory level compared with 82G/S and 82G/G genotypes, indicated by lower serum sRAGE level, higher serum IL-6, hs-CRP and PAI-1 levels. The polymorphisms at -374 and -429 loci did not influence the stroke risk and the above mentioned inflammation cytokines. Conclusion: Our results showed a close correlation between the 82G/S polymorphism and the susceptibility to IS, suggesting the 82G/S polymorphism may be used as a genetic marker for the prediction of stroke occurrence in high risk subjects.

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Association of the RAGE G82S polymorphism with Alzheimer’s disease

Cited by 47 publications

References 47 publications

Effect of RAGE polymorphisms on susceptibility to and severity of osteoarthritis in a Han Chinese population: a case-control study

Effect of RAGE polymorphisms on susceptibility to and severity of osteoarthritis in a Han Chinese population: a case-control study

Is the Gly82Ser polymorphism in the RAGE gene relevant to schizophrenia and the personality trait psychoticism?

Polymorphism of the RAGE Affects the Serum Inflammatory Levels and Risk of Ischemic Stroke in a Chinese Population

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