SynthesisHuman molecular genetics2011
Genome-wide meta-analysis for severe diabetic retinopathy.
Synthesis in Human molecular genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers, 7 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
88 citing papers in PubMed, 7 syntheses or guidelines pooled it, 163 citations in OpenAlex.
- Pooled it
- Gene Set Enrichment Analsyes Identify Pathways Involved in Genetic Risk for Diabetic Retinopathy.American journal of ophthalmology · 2022Pooled it
- Integration of genomics and transcriptomics predicts diabetic retinopathy susceptibility genes.eLife · 2020Pooled 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
- Integration of data from omic studies with the literature-based discovery towards identification of novel treatments for neovascularization in diabetic retinopathy.BioMed research international · 2013Pooled it
- Trial
- Validity of self-report in type 1 diabetic subjects for laser treatment of retinopathy.Ophthalmology · 2013Trial
- A genome-wide association study identifies EYA2 as a contributing gene for diabetic retinopathy in type 2 diabetes.Communications medicine · 2026Article
- Association of Physical Frailty and Genetic Predisposition with Risk of Irreversible Eye Diseases.Ophthalmology science · 2026Article
- Exome and Genome Sequencing Reveals Novel Variants for Severe Diabetic Retinopathy in Type 1 Diabetes.Investigative ophthalmology & visual science · 2025Article
- Genetic mechanisms of dynamic functional connectivity density in diabetic retinopathy brains: a combined transcriptomic and resting-state functional magnetic resonance imaging study.Frontiers in cellular neuroscience · 2025Article
- Development of targeted drugs for diabetic retinopathy using Mendelian randomized pharmacogenomics.Frontiers in endocrinology · 2025Article
- New insights of potential biomarkers in diabetic retinopathy: integrated multi-omic analyses.Frontiers in endocrinology · 2025Review
- Development of electronic health record based algorithms to identify individuals with diabetic retinopathy.Journal of the American Medical Informatics Association : JAMIA · 2024Article
- Single-cell RNA sequencing in exploring the pathogenesis of diabetic retinopathy.Clinical and translational medicine · 2024Review
- The Role of Genetic Polymorphisms in Diabetic Retinopathy: Narrative Review.International journal of molecular sciences · 2023Review
- Revisiting Retinal Degeneration Hallmarks: Insights from Molecular Markers and Therapy Perspectives.International journal of molecular sciences · 2023Review
- Progress in genetics of type 2 diabetes and diabetic complications.Journal of diabetes investigation · 2023Review
28 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
Diabetic retinopathy is a leading cause of blindness. The purpose of this study is to identify novel genetic loci associated with the sight threatening complications of diabetic retinopathy. We performed a meta-analysis of genome-wide association data for severe diabetic retinopathy as defined by diabetic macular edema or proliferative diabetic retinopathy in unrelated cases ascertained from two large, type I diabetic cohorts: the Genetics of Kidney in Diabetes (GoKinD) and the Epidemiology of Diabetes Intervention and Control Trial (EDIC) studies. Controls were other diabetic subjects in the cohort. A combined total of 2829 subjects (973 cases, 1856 controls) were studied on 2 543 887 single nucleotide polymorphisms (SNPs). Subjects with nephropathy were excluded in a sub-analysis of 281 severe retinopathy cases. We also performed an association analysis of 1390 copy number variations (CNVs) using tag SNPs. No associations were significant at a genome-wide level after correcting for multiple measures. The meta-analysis did identify several associations that can be pursued in future replication studies, including an intergenic SNP, rs476141, on chromosome 1 (P-value 1.2 × 10(-7)). The most interesting signal from the CNV analysis came from the sub-group analysis without nephropathy subjects and is rs10521145 (P-value 3.4 × 10(-6)) in the intron of CCDC101, a histone acetyltransferase. This SNP tags the copy number region CNVR6685.1 on chromosome 16 at 28.5 Mb, a gain/loss site. In summary, this study nominates several novel genetic loci associated with the sight-threatening complications of diabetic retinopathy and anticipates future large-scale consortium-based validation studies.
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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.