Diabetic Retinopathy, as genome-wide studies have reported it: 6 positions from 3 studies, the largest recording 47,590 cases and 563,698 controls (African American or Afro-Caribbean ancestry, Hispanic or Latin American ancestry, East Asian ancestry, European ancestry). Assembled by code from the GWAS Catalog's records and kept current as positions arrive; every figure is the studies' own.
Solid lines are connections this site curates. Dashed lines mean the two ends share a research paper — worth knowing, and not a claim that one explains the other.
This is the record of what genome-wide association studies have found for Diabetic Retinopathy (the GWAS Catalog's "Diabetic retinopathy"): 6 positions reported by 3 studies. The page is put together by code from the catalogue's records and the studies' own listings, and it is rebuilt whenever the records change, so it always reflects them as they stand.
Verma A et al. 2024, in Science — Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. The catalogue records its sample as 47,590 cases and 563,698 controls (African American or Afro-Caribbean ancestry, Hispanic or Latin American ancestry, East Asian ancestry, European ancestry). From it, 3 positions on this page: rs9274830 (near HLA-DQB1), rs111812200 (THADA), rs1182443 (UBE3C). PMID:39024449.
Huang YC et al. 2011, in Ophthalmology — Genome-wide association study of diabetic retinopathy in a Taiwanese population. Studied in 174 cases and 675 controls (Han Chinese ancestry). It contributes 2 positions: rs17376456 (KIAA0825), rs12219125 (near PLXDC2). PMID:21310492.
Xue Z et al. 2022, in EBioMedicine — Genome-wide association meta-analysis of 88,250 individuals highlights pleiotropic mechanisms of five ocular diseases in UK Biobank. Studied in 1,652 cases and 60,577 controls (European ancestry). The one position on this page from it: rs9274619 (HLA-DQB1). PMID:35841873.
The 6 positions sit in or beside 5 genes: HLA-DQB1, THADA, UBE3C, KIAA0825, PLXDC2. These are locations, as the catalogue records them; whether any of these genes is how a position acts is a question the records leave open.
Of all these, rs9274619 in HLA-DQB1 carries the strongest signal: P = 4 × 10-39, in Xue Z et al. 2022.
It is a record of what genome-wide studies have reported about Diabetic Retinopathy, kept current by code. It is not a description of the condition, an estimate of how common it is, or guidance of any kind — a page that took those from association records would be inventing them. Each variant page linked here carries that study's own record for the position in fixed sentences, and ClinVar's record where one exists.
Nothing on this page diagnoses Diabetic Retinopathy. The 6 variants here are research findings; no guideline uses them to predict, screen for or diagnose the condition — that is a clinician's work.
Everything here comes from population-level association records, put together by code. Those records compare groups of people; they do not examine anyone, and they give no guidance on care. For symptoms, testing or treatment, ask a clinician.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Diabetic Retinopathy comes down to these specific, well-studied positions — not a diagnosis.
The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 2 of 6 linked studies with a resolved discovery ancestry.
Databases, guidelines and references
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Diabetic Retinopathy. MyGeneLog™. https://www.mygenelog.com/conditions/diabetic-retinopathy
In the GWAS Catalog, Diabetic Retinopathy is filed as "Diabetic retinopathy". Rather than define it, this page lists the genome-wide findings: 6 positions from 3 studies, each with its study's sample and citation.
Genome-wide studies have reported 6 associated positions; the largest study behind this page recorded 47,590 cases and 563,698 controls (African American or Afro-Caribbean ancestry, Hispanic or Latin American ancestry, East Asian ancestry, European ancestry). Each common variant has a small effect, and an association in a population is not a cause in any one person.
The catalogue maps the positions to 5 genes: HLA-DQB1, THADA, UBE3C, KIAA0825, PLXDC2. These are where the positions sit, not proof of how they act.
No. They are population-level findings of small effect. Diabetic Retinopathy is diagnosed by a clinician, and no guideline uses a genotype to predict it.
Free to reuse. This page's text is original writing from freely-available research, licensed CC BY 4.0 — reuse it, including commercially, with attribution to MyGeneLog™. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.