ArticleHuman molecular genetics2021
Genome-wide association studies identify two novel loci conferring susceptibility to diabetic retinopathy in Japanese patients with 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. An erratum has been issued. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Pooled it
- A Quarter Century of EHD Protein Research: From Endosomal Recycling to Ciliopathies.Traffic (Copenhagen, Denmark) · 2026Review
- Circulating microRNAs as diagnostic biomarkers and pathogenic mediators in type 2 diabetic retinopathy: a systematic review.Acta diabetologica · 2026Review
- A genome-wide association study identifies EYA2 as a contributing gene for diabetic retinopathy in type 2 diabetes.Communications medicine · 2026Article
- Diabetic retinopathy: why some eyes suffer more - a focus on retina-specific risk factors and metabolic memory.Journal of translational medicine · 2026Review
- 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
- Precision Medicine for Diabetic Retinopathy: Integrating Genetics, Biomarkers, Lifestyle, and AI.Genes · 2025Review
- Multi-omics analysis of potential metabolic networks linking peripheral metabolic changes to inflammatory retinal conditions in STZ-induced early diabetic retinopathy.Biochemistry and biophysics reports · 2025Article
- Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.Journal of diabetes investigation · 2025Article
- Advances in molecular epidemiology of diabetic retinopathy: from genomics to gut microbiomics.Molecular biology reports · 2025Review
- A panoramic perspective: application prospects and outlook of multimodal artificial intelligence in the management of diabetic retinopathy.Frontiers in public health · 2025Review
- 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
- Genetic studies of type 2 diabetes, and microvascular complications of diabetes.Diabetology international · 2024Review
- Adaptive selection at G6PD and disparities in diabetes complications.Nature medicine · 2024Article
- THUMPD2 catalyzes the N2-methylation of U6 snRNA of the spliceosome catalytic center and regulates pre-mRNA splicing and retinal degeneration.Nucleic acids research · 2024Article
- Genetic insights and emerging therapeutics in diabetic retinopathy: from molecular pathways to personalized medicine.Frontiers in genetics · 2024Review
- Article
- The Role of Genetic Polymorphisms in Diabetic Retinopathy: Narrative Review.International journal of molecular sciences · 2023Review
Corrections and comments
- Erratum issued
Authors and funding
19 authors at 13 institutions in 3 countries.
Funding
Abstract
Several reports have suggested that genetic susceptibility contributes to the development and progression of diabetic retinopathy. We aimed to identify genetic loci that confer susceptibility to diabetic retinopathy in Japanese patients with type 2 diabetes. We analysed 5 790 508 single nucleotide polymorphisms (SNPs) in 8880 Japanese patients with type 2 diabetes, 4839 retinopathy cases and 4041 controls, as well as 2217 independent Japanese patients with type 2 diabetes, 693 retinopathy cases and 1524 controls. The results of these two genome-wide association studies (GWAS) were combined with an inverse variance meta-analysis (Stage-1), followed by de novo genotyping for the candidate SNP loci (P < 1.0 × 10-4) in an independent case-control study (Stage-2, 2260 cases and 723 controls). After combining the association data (Stages 1 and 2) using meta-analysis, the associations of two loci reached a genome-wide significance level: rs12630354 near STT3B on chromosome 3, P = 1.62 × 10-9, odds ratio (OR) = 1.17, 95% confidence interval (CI) 1.11-1.23, and rs140508424 within PALM2 on chromosome 9, P = 4.19 × 10-8, OR = 1.61, 95% CI 1.36-1.91. However, the association of these two loci was not replicated in Korean, European or African American populations. Gene-based analysis using Stage-1 GWAS data identified a gene-level association of EHD3 with susceptibility to diabetic retinopathy (P = 2.17 × 10-6). In conclusion, we identified two novel SNP loci, STT3B and PALM2, and a novel gene, EHD3, that confers susceptibility to diabetic retinopathy; however, further replication studies are required to validate these associations.
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