ArticleHuman molecular genetics2021
Genome-wide polygenic risk score for retinopathy of type 2 diabetes.
Article in Human molecular genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.
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The trial behind it
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Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it, 32 citations in OpenAlex.
- Pooled 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
- Higher diabetes genetic load in proliferative diabetic retinopathy in South India: The South Indian GeNetics of DiAbeTic Retinopathy (SIGNATR) study.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Article
- A genome-wide association study identifies EYA2 as a contributing gene for diabetic retinopathy in type 2 diabetes.Communications 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
- Exome and Genome Sequencing Reveals Novel Variants for Severe Diabetic Retinopathy in Type 1 Diabetes.Investigative ophthalmology & visual science · 2025Article
- Clinical use of polygenic scores in type 2 diabetes: challenges and possibilities.Diabetologia · 2025Review
- Advances in molecular epidemiology of diabetic retinopathy: from genomics to gut microbiomics.Molecular biology reports · 2025Review
- Genome-first evaluation with exome sequence and clinical data uncovers underdiagnosed genetic disorders in a large healthcare system.Cell reports. Medicine · 2024Article
- Development of a Polygenic Risk Score for BMI to Assess the Genetic Susceptibility to Obesity and Related Diseases in the Korean Population.International journal of molecular sciences · 2023Article
- Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics.Biomolecules · 2023Review
- Association of SDF-1 and its receptor CXCR4 polymorphisms on the susceptibility of diabetic retinopathy in the Taiwanese population.Frontiers in genetics · 2023Article
- Genetic and phenotypic profiling of supranormal ejection fraction reveals decreased survival and underdiagnosed heart failure.European journal of heart failure · 2022Article
- Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program.American journal of human genetics · 2022Article
- Genetics of Diabetic Retinopathy, a Leading Cause of Irreversible Blindness in the Industrialized World.Genes · 2021Review
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
Abstract
Diabetic retinopathy (DR) is a common consequence in type 2 diabetes (T2D) and a leading cause of blindness in working-age adults. Yet, its genetic predisposition is largely unknown. Here, we examined the polygenic architecture underlying DR by deriving and assessing a genome-wide polygenic risk score (PRS) for DR. We evaluated the PRS in 6079 individuals with T2D of European, Hispanic, African and other ancestries from a large-scale multi-ethnic biobank. Main outcomes were PRS association with DR diagnosis, symptoms and complications, and time to diagnosis, and transferability to non-European ancestries. We observed that PRS was significantly associated with DR. A standard deviation increase in PRS was accompanied by an adjusted odds ratio (OR) of 1.12 [95% confidence interval (CI) 1.04-1.20; P = 0.001] for DR diagnosis. When stratified by ancestry, PRS was associated with the highest OR in European ancestry (OR = 1.22, 95% CI 1.02-1.41; P = 0.049), followed by African (OR = 1.15, 95% CI 1.03-1.28; P = 0.028) and Hispanic ancestries (OR = 1.10, 95% CI 1.00-1.10; P = 0.050). Individuals in the top PRS decile had a 1.8-fold elevated risk for DR versus the bottom decile (P = 0.002). Among individuals without DR diagnosis, the top PRS decile had more DR symptoms than the bottom decile (P = 0.008). The PRS was associated with retinal hemorrhage (OR = 1.44, 95% CI 1.03-2.02; P = 0.03) and earlier DR presentation (10% probability of DR by 4 years in the top PRS decile versus 8 years in the bottom decile). These results establish the significant polygenic underpinnings of DR and indicate the need for more diverse ancestries in biobanks to develop multi-ancestral PRS.
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