Polymorphism 2184A/G in the <i>AGER</i> gene is not associated with diabetic retinopathy in Han Chinese patients with type 2 diabetes

Li, Jian; Cai, Wei; Zhang, Wei; Zhu, Weixing; Liu, Ying; Yue, Lixia; Zhu, Lingyan; Xiao, Jun-Ren; Liu, Jianying; Xu, Jibin

doi:10.1177/0300060516638990

Cited by 9 publications

(11 citation statements)

References 39 publications

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“…An Indian study on type 2 diabetes has shown significant associations between rs2070600 and diabetic retinopathy [39]. Significant associations between rs2070600 with diabetic retinopathy were also reported in Asian Indians and Asian Chinese with type 2 diabetes [40]. A study in Ashkenazi or Sephardic Jewish patients with type 1 or type 2 diabetes established that rs2070600 was associated with the risk of developing diabetic nephropathy [41].…”

Section: Rs2070600 Nm_0011364:c244g>a Pgly82ser Polymorphismmentioning

confidence: 99%

“…But they did not find any causal link between renal function and rs2070600, even if rs2070600 was associated with sRAGE levels [48]. The lack of a significant association between rs2070600 and diabetic retinopathy has been reported in both Malaysian and Japanese populations [40]. A meta-analysis did not show any significant association between rs2070600 and increased risk of diabetes [49].…”

Section: Rs2070600 Nm_0011364:c244g>a Pgly82ser Polymorphismmentioning

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: Rs2070600 Nm_0011364:c244g>a Pgly82ser Polymorphismmentioning

confidence: 99%

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

et al. 2019

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“…Li et al. () investigated the SNP rs3134940 in their Chinese cohort, but did not find an association with DR.…”

Section: Chronic Hyperglycaemiamentioning

confidence: 97%

Diabetic macular oedema: under‐represented in the genetic analysis of diabetic retinopathy

Broadgate

Kiire

Halford

et al. 2018

Acta Ophthalmologica

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Diabetic retinopathy, a complication of both type 1 and type 2 diabetes, is a complex disease and is one of the leading causes of blindness in adults worldwide. It can be divided into distinct subclasses, one of which is diabetic macular oedema. Diabetic macular oedema can occur at any time in diabetic retinopathy and is the most common cause of vision loss in patients with type 2 diabetes. The purpose of this review is to summarize the large number of genetic association studies that have been performed in cohorts of patients with type 2 diabetes and published in English-language journals up to February 2017. Many of these studies have produced positive associations with gene polymorphisms and diabetic retinopathy. However, this review highlights that within this large body of work, studies specifically addressing a genetic association with diabetic macular oedema, although present, are vastly under-represented. We also highlight that many of the studies have small patient numbers and that meta-analyses often inappropriately combine patient data sets. We conclude that there will continue to be conflicting results and no meaningful findings will be achieved if the historical approach of combining all diabetic retinopathy disease states within patient cohorts continues in future studies. This review also identifies several genes that would be interesting to analyse in large, well-defined cohorts of patients with diabetic macular oedema in future candidate gene association studies.

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“…Hyperglycemia induced ROS overproduction is mediated by AGEs interaction with its receptors like AGE-R1 (oligosaccaharyl transferase-48), 80K-H phosphoprotein (AGE-R2) AGER1/2/3, Galectin-3 (AGE-R3), CD36, and macrophage scavenger receptor (MSR-1 and 2) is implicated in the pathogenesis of diabetic retinopathy [14,22].…”

Section: Advanced Glycation End Products (Ages)mentioning

confidence: 99%

Single nucleotide variants of receptor for advanced glycation end-products (AGER) gene: is it a new opening in the risk assessment of diabetic retinopathy?—a review

Ahuja

Waris

Siddiqui

et al. 2022

Journal of Genetic Engineering and Biotechnology

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Background Diabetic retinopathy (DR) is a common microvascular complication of diabetes. There is strong evidence suggesting that DR has an inheritable component. The interaction between advanced glycation end products (AGEs) and their receptor is integral in the pathogenesis of diabetic retinopathy and its various complications, retinopathy being one of them. Overview and methodology This review discusses the existing literature on the association between single nucleotide variants (SNV) of AGER gene and the risk of DR. It also discusses the current understanding of the AGE-AGER pathway in diabetic retinopathy. Through our article we have tried to consolidate all the available information about these SNVs associated with diabetic retinopathy in a succinct tabular form. Additionally, a current understanding of the AGE-AGER interaction and its deleterious effects on the cells of the retina has been discussed in detail to provide comprehensive information about the topic to the reader. A literature review was performed on PubMed, Cochrane Library, and Google Scholar for studies to find existing literature on the association between AGER gene SNVs and the risk, progression and severity of developing DR. This article will encourage scientific communication and discussion about possibly devising genetic markers for an important cause of blindness both in developed and developing countries, i.e., diabetic retinopathy. Result Based on genetic studies done in Indian and Chinese population G82S(rs2070600) was positively associated with Diabetic Retinopathy. Patients of diabetic retinopathy in Caucasian population had −T374A(rs1800624) polymorphism. + 20T/A was found to be associated with the disease in a study done in UK. Association with G1704T(rs184003) was seen in Chinese and Malaysian population. A Chinese study found its association with CYB242T. -T429C(rs1800625) SNV was not associated with DR in any of the studies. G2245A(rs55640627) was positively associated with the disease process in Malaysian population. It was not associated in Malaysian and Chinese population. Promoter variant rs1051993 has also been found to a susceptible SNV in the Chinese population. Conclusion While providing a comprehensive review of the existing information, we would like to emphasize on a large, multi-centric, trial with a much larger and varied population base to definitely determine these single nucleotide variants predisposing diabetic individuals.

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Polymorphism 2184A/G in the AGER gene is not associated with diabetic retinopathy in Han Chinese patients with type 2 diabetes

Cited by 9 publications

References 39 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

Diabetic macular oedema: under‐represented in the genetic analysis of diabetic retinopathy

Single nucleotide variants of receptor for advanced glycation end-products (AGER) gene: is it a new opening in the risk assessment of diabetic retinopathy?—a review

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