Receptor of Advanced Glycation End Products Gene Polymorphism and Primary Open-Angle Glaucoma

Moschos, Marilita M.; Chatziralli, Irini; Sioziou, Anna; Gazouli, Maria

doi:10.1159/000464448

Cited by 5 publications

(5 citation statements)

References 27 publications

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“…The rs2070600 SNP was studied for a potential correlation with primary open-angle glaucoma because of its potential role in oxidative stress, but no significant association has been reported [74]. In a Chinese cohort, rs2070600 was associated with Alzheimer's disease and with its early onset.…”

Section: Rs2070600 Nm_0011364:c244g>a Pgly82ser Polymorphismmentioning

confidence: 99%

“…The G allele frequency in the general population is 93.4% versus 6.6% for allele T. The G allele frequency in the CEU population is 99.5% (0.5% for allele T), and G and T allele frequencies in the EAS population are 91.9% and 8.1%, respectively (1000 Genome data). The potential correlation of rs1051993 SNP with primary open-angle glaucoma related (due to its potential role in oxidative stress), but no significant association has been reported [74].…”

Section: Other Ager Polymorphismsmentioning

confidence: 99%

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Pathological Implications of Receptor for Advanced Glycation End-Product (AGER) Gene Polymorphism

et al. 2019

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The receptor for advanced glycation end-products (RAGE) is a cell surface transmembrane multiligand receptor, encoded by the AGER gene. RAGE presents many transcripts, is expressed mainly in the lung, and involves multiple pathways (such as NFκB, Akt, p38, and MAP kinases) that initiate and perpetuate an unfavorable proinflammatory state. Due to these numerous functional activities, RAGE is implicated in multiple diseases. AGER is a highly polymorphic gene, with polymorphisms or SNP (single-nucleotide polymorphism) that could be responsible or co-responsible for disease development. This review was designed to shed light on the pathological implications of AGER polymorphisms. Five polymorphisms are described: rs2070600, rs1800624, rs1800625, rs184003, and a 63 bp deletion. The rs2070600 SNP may be associated with the development of human autoimmune disease, diabetes complications, cancer, and lung diseases such as chronic obstructive pulmonary disease and acute respiratory distress syndrome. The rs1800624 SNP involves AGER gene regulation and may be related to reduced risk of heart disease, cancer, Crohn’s disease, and type 1 diabetes complications. The rs1800625 SNP may be associated with the development of diabetic retinopathy, cancer, and lupus but may be protective against cardiovascular risk. The rs184003 SNP seems related to coronary artery disease, breast cancer, and diabetes. The 63 bp deletion may be associated with reduced survival from heart diseases during diabetic nephropathy. Here, these potential associations between AGER polymorphisms and the development of diseases are discussed, as there have been conflicting findings on the pathological impact of AGER SNPs in the literature. These contradictory results might be explained by distinct AGER SNP frequencies depending on ethnicity.

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Section: Rs2070600 Nm_0011364:c244g>a Pgly82ser Polymorphismmentioning

confidence: 99%

Section: Other Ager Polymorphismsmentioning

confidence: 99%

Pathological Implications of Receptor for Advanced Glycation End-Product (AGER) Gene Polymorphism

et al. 2019

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“…Whereas glaucoma is an age-related chronic neurodegenerative disease and oxidative stress may contribute to its pathophysiologic process, the association between AGEs and glaucoma received little attention. 5,[38][39][40] Hence, only a few experimental studies have reported a higher accumulation of AGEs in the optic nerve head, in the retinal ganglion cell layer, in the glia and in the retinal distribution of Müller cells or around blood vessels, thus suggesting a potential role in the pathogenesis of glaucoma. 41,42 However, to date, AGEs have never been evaluated in vivo and in a general population as a potential risk factor for glaucoma.…”

mentioning

confidence: 99%

Autofluorescence of Skin Advanced Glycation End Products as a Risk Factor for Open Angle Glaucoma: The ALIENOR Study

Schweitzer

Cougnard‐Grégoire

Rigalleau

et al. 2018

Invest. Ophthalmol. Vis. Sci.

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“…The rs1051993 and rs2070600 polymorphisms were determined as previously described. 63 The ALDH2 polymorphism was detected using primer sequences selected according to Ishibashi et al 64 : forward primer (5 ′ -CCC TTT GGT GGC TAG AAG ATG-3 ′ ), and reverse primer (5 ′ -CCA CAC TCA CAG TTT TCT CTT-3 ′ ). The PCR products were digested with the restriction endonuclease MboI.…”

Section: Genotypingmentioning

confidence: 99%

The association of AGER and ALDH2 gene polymorphisms with diabetic retinopathy

Gouliopoulos

Gazouli

Karathanou

et al. 2022

European Journal of Ophthalmology

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Purpose To evaluate the possible associations between AGER (rs1051993, rs2070600) and ALDH2 (rs671) gene polymorphisms with nonproliferative (NPDR) and proliferative (PDR) diabetic retinopathy, in a well-defined Greek population. Materials 66 NPDR patients and 57 PDR patients participated in our study, along with 156 age- and gender-matched healthy-control subjects (CL). All the participants underwent a complete ophthalmological examination, while clinical and demographic data were collected. Furthermore, they were genotyped for the studied polymorphisms. Results No significant differences were detected among the studied groups regarding the participants’ age and gender status. We found that the ALDH2 AA genotype was significantly more frequent in PDR patients than in CL ( p = 0.014). Furthermore, between NPDR and PDR groups, the AGER rs1051993 GT and TT genotype frequencies were significantly elevated in PDR patients ( p < 0.0001 and 0.04, respectively). Moreover, we demonstrated that the heterozygous GT genotype in DR patients is accompanied by 71.11 times higher risk of developing PDR (OR = 71.11: 95% CI- 4.14–1215.2), while the homozygous TT genotype is associated with 12.71 times elevated risk for PDR development (OR = 12.71: 95% CI- 0.63–254.1). Conclusions We documented that the ALDH2 AA and AGER rs1051993 GT and TT genotypes were observed significantly more frequently in PDR Greek diabetic patients. Our findings also support the genetic theory, suggesting that heritability is significantly implicated in the development of DR, providing additional evidence in the understanding of DR pathogenesis.

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Receptor of Advanced Glycation End Products Gene Polymorphism and Primary Open-Angle Glaucoma

Cited by 5 publications

References 27 publications

Pathological Implications of Receptor for Advanced Glycation End-Product (AGER) Gene Polymorphism

Pathological Implications of Receptor for Advanced Glycation End-Product (AGER) Gene Polymorphism

Autofluorescence of Skin Advanced Glycation End Products as a Risk Factor for Open Angle Glaucoma: The ALIENOR Study

The association of AGER and ALDH2 gene polymorphisms with diabetic retinopathy

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