Polymorphism Screening of Four Genes Encoding Advanced Glycation End-Product Putative Receptors

Poirier, Odette; Nicaud, Viviane; Vionnet, Nathalie; Raoux, Ségolène; Tarnow, Lise; Vlassara, Helen; Parving, Hans‐Henrik; Cambien, François

doi:10.2337/diabetes.50.5.1214

Cited by 59 publications

(43 citation statements)

References 28 publications

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“…The nucleotide changes between chromosome 6 and 3 included a C (chromosome 6) to A (chromosome 3) change at Ϫ1139/ϩ2298, reported as a polymorphism by Poirier et al (11). To verify our results and confirm the Ϫ1139/ϩ2298 C/A gene:pseudogene difference, we performed a PCR-RFLP study on the pseudogene polymorphisms we detected.…”

Section: Variations In Rage 5 Regulatory Region and ⌿Pbx2supporting

confidence: 70%

“…We have identified variants of RAGE in the coding region resulting in amino acid changes (9) and, more recently, we identified eight novel polymorphisms in the 5Ј regulatory region of RAGE, which we confirmed to be on chromosome 6 (10). A recent study identified a polymorphism causing a change from C to A in the duplicated region at Ϫ1139 (numbered as Ϫ1152 by Poirier et al [11] from the translational start site); however, our own chromosome 6 -specific data did not support Ϫ1139 C/A as a polymorphism of RAGE (10). Therefore, characterization of both this anomaly and the ⌿PBX2 and RAGE/PBX2 loci are needed.…”

supporting

confidence: 54%

“…1. These include a Ϫ1139 RAGE/ϩ2298 PBX2 C/A change, previously identified as a polymorphism on RAGE by Poirier et al (11) (numbered as Ϫ1152 C/A in their study).…”

Section: Resultsmentioning

confidence: 97%

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Characterization of Allelic and Nucleotide Variation Between the RAGE Gene on Chromosome 6 and a Homologous Pseudogene Sequence to Its 5′ Regulatory Region on Chromosome 3

et al. 2001

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Activation of the receptor for advanced glycation end products (RAGE) appears to be a key mechanism in the pathogenesis of diabetic vascular disease, making RAGE a candidate gene for investigation. RAGE is located in the major histocompatibility complex locus on chromosome 6, which contains a multitude of overlapping and duplicated genes involved predominantly in inflammatory and immune responses. The RAGE 5′ flanking region from −505 in a 5′ direction overlaps with PBX2, a gene that has a pseudogene copy on chromosome 3, making any studies of polymorphisms in this duplicated region potentially fraught with error. In this study we have addressed these issues by confirming RAGE as a predominantly single-copy gene and PBX2 to have two gene copies in the haploid human genome. We have characterized the gene:pseudogene differences between RAGE/PBX2 on chromosome 6 and ΨPBX2 on chromosome 3, which include a change from C to A at position −1139 RAGE/+2298 PBX2, previously reported as a polymorphism. Single chromosome–specific DNA amplification of the duplicated region has clarified five polymorphisms to be on chromosome 3 and one (at −1202 RAGE/+2234 PBX2) to be on chromosome 6. In conclusion, this study provides essential data for the study of RAGE and its genetics.

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Section: Variations In Rage 5 Regulatory Region and ⌿Pbx2supporting

confidence: 70%

supporting

confidence: 54%

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Characterization of Allelic and Nucleotide Variation Between the RAGE Gene on Chromosome 6 and a Homologous Pseudogene Sequence to Its 5′ Regulatory Region on Chromosome 3

et al. 2001

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“…In that study by Poirier et al, evidence of nominal association (p=0.041) between the glutamic acid repeats in PRKCSH and diabetic nephropathy was detected in a sample of 199 cases and 193 controls [7]. We analysed PRKCSH in a larger sample set and using a denser set of markers, but found no association with diabetic nephropathy.…”

Section: Discussionmentioning

confidence: 75%

DDOST, PRKCSH and LGALS3, which encode AGE-receptors 1, 2 and 3, respectively, are not associated with diabetic nephropathy in type 1 diabetes

et al. 2010

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Aims/hypothesis The AGE receptors 1, 2 and 3, which are encoded by DDOST, PRKCSH and LGALS3, respectively, may be involved in the pathogenesis of diabetic complications. We sought to find out whether these genes are associated with diabetic nephropathy, cardiovascular disease and type 1 diabetes or related quantitative traits. Methods Using the Tagger program, we selected 28 single nucleotide polymorphisms (SNPs) based on the HapMap Centre d'Etude du Polymorphisme (Utah residents with northern and western European ancestry) data. The SNPs were genotyped in 2,719 Finnish patients with type 1 diabetes and tested for association with diabetic nephropathy (821 cases, 1,060 controls), cardiovascular disease and related quantitative traits. For association analysis with type 1 diabetes, 703 non-diabetic control participants were genotyped. Results We found evidence of genotype association between diabetic nephropathy and the SNPs rs2170336 in DDOST (p=0.03), rs311788 in PRKCSH (p=0.04) and rs311778 in PRKCSH (p=0.02). However, these associations did not reach the significance limit of 0.0008 adjusted for multiple testing. None of the DDOST, PRKCSH or LGALS3 SNPs were associated with quantitative traits related to diabetic nephropathy, including AER and estimated GFR. No associations were found between the SNPs and cardiovascular disease, blood pressure, serum lipid levels or type 1 diabetes. Conclusions/interpretation The common SNPs tested in DDOST, PRKCSH and LGALS3 do not seem to be associated with diabetic micro-or macrovascular complications or with type 1 diabetes in Finnish patients.

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“…Variations in the RAGE gene have been identified and screened for association with DR and other diseases. [31][32][33] Of the many polymorphisms that have been screened, the À429 and À374 are considered important, since these polymorphisms are reported to increase the RAGE gene transcript, which will augment increased AGE binding to cells and as a result lead to an altered signaling cascade. The G82S polymorphism has also been studied in various populations, which is yet another important polymorphism previously studied in this population.…”

Section: Discussionmentioning

confidence: 99%

Rage gene promoter polymorphisms and diabetic retinopathy in a clinic-based population from South India

Ramprasad

Radha

Mathias

et al. 2006

Eye

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Purpose The main objective of this study was to evaluate if the À429T/C, À374T/A and 63 bp deletion polymorphisms in the RAGE gene are associated with diabetic retinopathy (DR) among Type 2 diabetic subjects in a clinicbased population from South India. Methods We screened 149 normal glucose tolerant subjects (NGT), 189 Type 2 diabetes subjects without retinopathy (DM) and 190 subjects with DR for these polymorphisms using the PCR-RFLP method. DR was diagnosed by grading color fundus photography. Logistic regression models were used to evaluate the association of individual polymorphisms with DR. Expectationmaximization algorithms were implemented in haplotype tests of association to examine the combined effects of À429T/C and À374T/A polymorphisms on DR. Results The allelic frequencies of À429T are 0.83 in NGT, 0.84 in DM and 0.85 in DR subjects, and that of À374T are 0.93 in NGT, 0.92 in DM and 0.88 in DR subjects. The À374 polymorphism was found to be associated with non-proliferative retinopathy when this subgroup was compared to the DM group (OR ¼ 1.814, 95% CI ¼ 1.005-3.273). However, this association was not obvious when both the subphenotypes of DR (the nonproliferative and proliferative DR groups) were studied jointly. We found no evidence for associations between the À429T/C polymorphism and the DR phenotype. Finally, extension to a 2-SNP haplotype did not reveal any significant statistical difference between the groups (P ¼ 0.668).

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Polymorphism Screening of Four Genes Encoding Advanced Glycation End-Product Putative Receptors

Cited by 59 publications

References 28 publications

Characterization of Allelic and Nucleotide Variation Between the RAGE Gene on Chromosome 6 and a Homologous Pseudogene Sequence to Its 5′ Regulatory Region on Chromosome 3

Characterization of Allelic and Nucleotide Variation Between the RAGE Gene on Chromosome 6 and a Homologous Pseudogene Sequence to Its 5′ Regulatory Region on Chromosome 3

DDOST, PRKCSH and LGALS3, which encode AGE-receptors 1, 2 and 3, respectively, are not associated with diabetic nephropathy in type 1 diabetes

Rage gene promoter polymorphisms and diabetic retinopathy in a clinic-based population from South India

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