ReviewVision research2017
Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy.
Review in Vision research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
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Who cites it
25 citing papers in PubMed, 44 citations in OpenAlex.
- Whole-Exome Analysis Identifies Candidate Genes Associated With Diabetic Retinopathy.Investigative ophthalmology & visual science · 2026Article
- Case Report: a novelFrontiers in genetics · 2026Article
- Exome and Genome Sequencing Reveals Novel Variants for Severe Diabetic Retinopathy in Type 1 Diabetes.Investigative ophthalmology & visual science · 2025Article
- Molecular mechanisms and computational insights into human SGLTs: advancing toward selective SGLT1 inhibition.Frontiers in molecular biosciences · 2025Review
- New insights of potential biomarkers in diabetic retinopathy: integrated multi-omic analyses.Frontiers in endocrinology · 2025Review
- Metabolic basis of solute carrier transporters in treatment of type 2 diabetes mellitus.Acta pharmaceutica Sinica. B · 2024Review
- Lipopolysaccharide-responsive beige-like anchor is involved in regulating NF-κB activation in B cells.Frontiers in immunology · 2024Article
- Identification of Genetic Variants for Diabetic Retinopathy Risk Applying Exome Sequencing in Extreme Phenotypes.BioMed research international · 2024Article
- Genetics of diabetes-associated microvascular complications.Diabetologia · 2023Review
- Article
- Genome-wide DNA methylation analysis of extreme phenotypes in the identification of novel epigenetic modifications in diabetic retinopathy.Clinical epigenetics · 2022Article
- Article
- Restoration of mRNA Expression of Solute Carrier Proteins in Liver of Diet-Induced Obese Mice by Metformin.Frontiers in endocrinology · 2021Article
- Sodium-coupled glucose transport, the SLC5 family, and therapeutically relevant inhibitors: from molecular discovery to clinical application.Pflugers Archiv : European journal of physiology · 2020Review
- Genetics of diabetes mellitus and diabetes complications.Nature reviews. Nephrology · 2020Review
- Do Genomic Factors Play a Role in Diabetic Retinopathy?Journal of clinical medicine · 2020Review
- Genome wide analysis of gene expression changes in skin from patients with type 2 diabetes.PloS one · 2020Article
- Relevance of solute carrier family 5 transporter defects to inherited and acquired human disease.Journal of applied genetics · 2019Review
- Genetics of Diabetic Retinopathy.Current diabetes reports · 2019Review
- Multiple rare and common variants in APOB gene locus associated with oxidatively modified low-density lipoprotein levels.PloS one · 2019Article
Corrections and comments
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Authors and funding
17 authors at 6 institutions in 2 countries.
Funding
Abstract
Rare or novel gene variants in patients with proliferative diabetic retinopathy may contribute to disease development. We performed whole exome sequencing (WES) on patients at the phenotypic extremes of diabetic retinal complications: 57 patients diagnosed with proliferative diabetic retinopathy (PDR) as cases and 13 patients with no diabetic retinopathy despite at least 10years of type 2 diabetes as controls. Thirty-one out of the 57 cases and all 13 controls were from the African American Proliferative Diabetic Retinopathy Study (AA). The rest of the cases were of mixed ethnicities (ME). WES identified 721 candidate genes with rare or novel non-synonymous variants found in at least one case with PDR and not present in any controls. After filtering for genes with null alleles in greater than two cases, 28 candidate genes were identified in our ME cases and 16 genes were identified in our AA cases. Our analysis showed rare and novel variants within these genes that could contribute to the development of PDR, including rare non-synonymous variants in FAM132A, SLC5A9, ZNF600, and TMEM217. We also found previously unidentified variants in VEGFB and APOB. We found that VEGFB, VPS13B, PHF21A, NAT1, ZNF600, PKHD1L1 expression was reduced in human retinal endothelial cells (HRECs) cultured under high glucose conditions. In an exome sequence analysis of patients with PDR, we identified variants in genes that could contribute to pathogenesis. Six of these genes were further validated and found to have reduced expression in HRECs under high glucose conditions, suggestive of an important role in the development of PDR.
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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.