# New Gene Targets for Diagnosis and Therapy of Diabetic Retinopathy

**Authors:** Emine Çinici, Mehmet Enes Arslan, Özge Çağlar Yıldırım, Nilay Dilekmen, Bahadır Utlu, Özkan Çinici, Zehra Sağlam, Hasan Türkez

PMC · DOI: 10.5152/eurasianjmed.2025.24559 · The Eurasian Journal of Medicine · 2025-04-19

## TL;DR

This study identifies new genes that could help diagnose and treat diabetic retinopathy, a common complication of diabetes that causes vision loss.

## Contribution

The study proposes SERPING1 and IGFBP3 as novel gene targets for early diagnosis and treatment of diabetic retinopathy.

## Key findings

- HIF1A and VEGFA were significantly upregulated in both DR and DM groups compared to controls.
- SERPING1 was specifically upregulated in DR patients and linked to the complement pathway.
- IGFBP3 was significantly downregulated in DR patients and connected to insulin-like growth factor signaling.

## Abstract

Diabetic retinopathy (DR), considered one of the most common microvascular complications associated with diabetes mellitus (DM), involves both neuronal and vascular dysfunctions in the retina. Neuronal damage and vision loss occur progressively in patients with DR. A number of genetic targets have been identified for DR and gene-related treatments as well as early diagnostic techniques have been developed. Despite some medical advances, DR remains a devastating complication of diabetes. This study aimed to identify new gene targets that can be used for the prognosis and treatment of DR..

Eight candidate genes were analyzed using Synergy Brands Green (SYBR-green)-based real-time polymerase chain reaction in peripheral blood mononuclear cells (PBMCs) from 45 individuals: DR patients (n = 15), DM patients without DR (n = 15), and healthy controls (n = 15). STRING v11 was used for protein–protein interaction analysis. Gene expression differences were evaluated using ANOVA, with significance set at P < .05.

HIF1A and VEGFA were significantly upregulated in both DR and DM groups compared to controls (HIF1A: fold change 5.28; VEGFA: fold change 5.20 for DR group). SERPING1 was specifically upregulated in DR patients (fold change 3.42). CX3CR1 and BDNF were downregulated in both DR and DM groups (CX3CR1: fold change 8.32; BDNF: fold change 3.21), while IGFBP3 was significantly downregulated only in DR patients (fold change 6.5). STRING analysis revealed strong interactions between SERPING1 and complement pathway components, while IGFBP3 was linked to insulin-like growth factor signaling.

In light of these findings, we observed that SERPING1 and IGFBP3 genes might be proposed as targets for early diagnosis and treatment for DR.

## Linked entities

- **Genes:** HIF1A (hypoxia inducible factor 1 subunit alpha) [NCBI Gene 3091], VEGFA (vascular endothelial growth factor A) [NCBI Gene 7422], SERPING1 (serpin family G member 1) [NCBI Gene 710], CX3CR1 (C-X3-C motif chemokine receptor 1) [NCBI Gene 1524], BDNF (brain derived neurotrophic factor) [NCBI Gene 627], IGFBP3 (insulin like growth factor binding protein 3) [NCBI Gene 3486]
- **Diseases:** Diabetic retinopathy (MONDO:0005266), diabetes mellitus (MONDO:0005015)

## Full-text entities

- **Genes:** SERPING1 (serpin family G member 1) [NCBI Gene 710] {aka C1IN, C1INH, C1NH, HAE1, HAE2}, VEGFA (vascular endothelial growth factor A) [NCBI Gene 7422] {aka L-VEGF, MVCD1, VEGF, VPF}, BDNF (brain derived neurotrophic factor) [NCBI Gene 627] {aka ANON2, BULN2}, CX3CR1 (C-X3-C motif chemokine receptor 1) [NCBI Gene 1524] {aka CCRL1, CMKBRL1, CMKDR1, GPR13, GPRV28, V28}, IGFBP3 (insulin like growth factor binding protein 3) [NCBI Gene 3486] {aka BP-53, IBP-3, IBP3, IGFBP-3}, HIF1A (hypoxia inducible factor 1 subunit alpha) [NCBI Gene 3091] {aka HIF-1-alpha, HIF-1A, HIF-1alpha, HIF1, HIF1-ALPHA, MOP1}
- **Diseases:** DM (MESH:D003920), neuronal and vascular dysfunctions (MESH:D002561), DR (MESH:D003930), vision loss (MESH:D014786), Neuronal damage (MESH:D009410)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12036348/full.md

## References

38 references — full list in the complete paper: https://tomesphere.com/paper/PMC12036348/full.md

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Source: https://tomesphere.com/paper/PMC12036348