ArticleHuman molecular genetics2013
Genome-wide association study in a Chinese population with diabetic retinopathy.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 5 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
55 citing papers in PubMed, 5 syntheses or guidelines pooled it, 94 citations in OpenAlex.
- Pooled it
- Gene Set Enrichment Analsyes Identify Pathways Involved in Genetic Risk for Diabetic Retinopathy.American journal of ophthalmology · 2022Pooled it
- Pooled it
- The Association of Haptoglobin Gene Variants and Retinopathy in Type 2 Diabetic Patients: A Meta-Analysis.Journal of diabetes research · 2017Pooled it
- A Meta-Analysis of Association between Methylenetetrahydrofolate Reductase Gene (MTHFR) 677C/T Polymorphism and Diabetic Retinopathy.International journal of environmental research and public health · 2016Pooled it
- Trial
- Genetic risk factors for diabetic retinopathy in the Greek population: a review of key gene polymorphisms.Hormones (Athens, Greece) · 2026Review
- A genome-wide association study identifies EYA2 as a contributing gene for diabetic retinopathy in type 2 diabetes.Communications medicine · 2026Article
- Association of theFrontiers in medicine · 2026Article
- Polygenic risk score for predicting diabetic retinopathy in patients with type 2 diabetes: A twenty-year follow-up study.World journal of diabetes · 2025Article
- Investigation of UCHL3 and HNMT Gene Polymorphisms in Greek Patients with Type 2 Diabetes Mellitus and Diabetic Retinopathy.Biomedicines · 2025Article
- Diabetic Retinopathy-A Review.Current diabetes reviews · 2025Review
- New insights of potential biomarkers in diabetic retinopathy: integrated multi-omic analyses.Frontiers in endocrinology · 2025Review
- Integrative Analysis by Mendelian Randomization and Large-Scale Single-Cell Transcriptomics Reveals Causal Links between B Cell Subtypes and Diabetic Kidney Disease.Kidney diseases (Basel, Switzerland) · 2024Article
- Revisiting Retinal Degeneration Hallmarks: Insights from Molecular Markers and Therapy Perspectives.International journal of molecular sciences · 2023Review
- Copy Number Variations Contribute to Intramuscular Fat Content Differences by Affecting the Expression ofAnimals : an open access journal from MDPI · 2022Article
- The E23K Polymorphism ofBritish journal of biomedical science · 2022Article
- Possible Modifying Effect of Hemoglobin A1c on Genetic Susceptibility to Severe Diabetic Retinopathy in Patients With Type 2 Diabetes.Investigative ophthalmology & visual science · 2020Article
- Genotypes and Phenotypes: A Search for Influential Genes in Diabetic Retinopathy.International journal of molecular sciences · 2020Review
- Do Genomic Factors Play a Role in Diabetic Retinopathy?Journal of clinical medicine · 2020Review
Corrections and comments
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Authors and funding
18 authors at 7 institutions in 5 countries.
Funding
Abstract
Diabetic retinopathy (DR) is a leading cause of preventable blindness in adults. To identify genetic contributions in DR, we studied 2071 type 2 diabetics. We first conducted a genome-wide association study of 1007 individuals, comparing 570 subjects with ≥8 years duration without DR (controls) with 437 PDR (cases) in the Chinese discovery cohort. Cases and controls were similar for HbA1c, diabetes duration and body mass index. Association analysis with imputed data identified three novel loci: TBC1D4-COMMD6-UCHL3 (rs9565164, P = 1.3 × 10(-7)), LRP2-BBS5 (rs1399634, P = 2.0 × 10(-6)) and ARL4C-SH3BP4 (rs2380261, P = 2.1 × 10(-6)). Analysis of an independent cohort of 585 Hispanics diabetics with or without DR though did not confirm these signals. These genes are still of particular interest because they are involved in insulin regulation, inflammation, lipid signaling and apoptosis pathways, all of which are possibly involved with DR. Our finding nominates possible novel loci as potential DR susceptibility genes in the Chinese that are independent of the level of HbA1c and duration of diabetes and may provide insight into the pathophysiology of DR.
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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.