ArticleProceedings of the National Academy of Sciences of the United States of America2008
Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 90 papers, 7 of them syntheses that pooled it.
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Who cites it
90 citing papers in PubMed, 7 syntheses or guidelines pooled it, 209 citations in OpenAlex.
- Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic predictor for EPO-increasing therapies.American journal of human genetics · 2022Pooled it
- Association of polymorphisms in the erythropoietin gene with diabetic retinopathy: a case-control study and systematic review with meta-analysis.BMC ophthalmology · 2022Pooled it
- A variant within the FTO confers susceptibility to diabetic nephropathy in Japanese patients with type 2 diabetes.PloS one · 2018Pooled it
- Association of chemokine ligand 5/chemokine receptor 5 gene promoter polymorphisms with diabetic microvascular complications: A meta-analysis.Journal of diabetes investigation · 2016Pooled it
- Meta-analysis of diabetic nephropathy associated genetic variants in inflammation and angiogenesis involved in different biochemical pathways.BMC medical genetics · 2014Pooled it
- Association testing of previously reported variants in a large case-control meta-analysis of diabetic nephropathy.Diabetes · 2012Pooled it
- Pooled it
- The erythropoietin gene polymorphism (rs1617640) is associated with retinopathy in type 2 diabetes patients.Acta diabetologica · 2026Article
- Article
- New insights of potential biomarkers in diabetic retinopathy: integrated multi-omic analyses.Frontiers in endocrinology · 2025Review
- Recent Advances in the Management of Diabetic Kidney Disease: Slowing Progression.International journal of molecular sciences · 2024Review
- Precision Medicine in Erythropoietin Deficiency and Treatment Resistance: A Novel Approach to Management of Anaemia in Chronic Kidney Disease.Current issues in molecular biology · 2023Review
- The Functional Erythropoetin rs1617640 Gene Polymorphism does not Affect Life Expectancy of Patients with Peripheral Arterial Disease.Reviews in cardiovascular medicine · 2023Article
- Bibliometric Analysis and Visualization of Research Progress in the Diabetic Nephropathy Field from 2001 to 2021.Oxidative medicine and cellular longevity · 2023Article
- Genetic and epigenetic background of diabetic kidney disease.Frontiers in endocrinology · 2023Review
- Reduction of Laser-Induced Choroidal Neovascularization in Mice With Erythropoietin RNA Interference.Translational vision science & technology · 2022Article
- Role of EPO and TCF7L2 Gene Polymorphism Contribution to the Occurrence of Diabetic Retinopathy.Disease markers · 2022Article
- Genome-wide association studies identify two novel loci conferring susceptibility to diabetic retinopathy in Japanese patients with type 2 diabetes.Human molecular genetics · 2021Article
- The ErythropoetinGenes · 2020Article
- Dual Switch Mechanism of Erythropoietin as an Antiapoptotic and Pro-Angiogenic Determinant in the Retina.ACS omega · 2020Article
30 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
37 authors at 8 institutions in 4 countries.
Funding
Abstract
Significant morbidity and mortality among patients with diabetes mellitus result largely from a greatly increased incidence of microvascular complications. Proliferative diabetic retinopathy (PDR) and end stage renal disease (ESRD) are two of the most common and severe microvascular complications of diabetes. A high concordance exists in the development of PDR and ESRD in diabetic patients, as well as strong familial aggregation of these complications, suggesting a common underlying genetic mechanism. However, the precise gene(s) and genetic variant(s) involved remain largely unknown. Erythropoietin (EPO) is a potent angiogenic factor observed in the diabetic human and mouse eye. By a combination of case-control association and functional studies, we demonstrate that the T allele of SNP rs1617640 in the promoter of the EPO gene is significantly associated with PDR and ESRD in three European-American cohorts [Utah: P = 1.91 x 10(-3); Genetics of Kidneys in Diabetes (GoKinD) Study: P = 2.66 x 10(-8); and Boston: P = 2.1 x 10(-2)]. The EPO concentration in human vitreous body was 7.5-fold higher in normal subjects with the TT risk genotype than in those with the GG genotype. Computational analysis suggests that the risk allele (T) of rs1617640 creates a matrix match with the EVI1/MEL1 or AP1 binding site, accounting for an observed 25-fold enhancement of luciferase reporter expression as compared with the G allele. These results suggest that rs1617640 in the EPO promoter is significantly associated with PDR and ESRD. This study identifies a disease risk-associated gene and potential pathway mediating severe diabetic microvascular complications.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.