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. 2024 Jul 23;25(15):8036.
doi: 10.3390/ijms25158036.

Association of SDF-1-3' Gene A Variant with Diabetic Retinopathy in the Hungarian Population

Monika Ecsedy  1 , Illes Kovacs  1   2   3 , Andrea Szigeti  1 , Hajnalka Horvath  1 , Lilla Lenart  4 , Zsuzsanna Recsan  1 , Timea Medveczki  4 , Zoltan Zsolt Nagy  1   2 , Andrea Fekete  4
Affiliations

Association of SDF-1-3' Gene A Variant with Diabetic Retinopathy in the Hungarian Population

Monika Ecsedy et al. Int J Mol Sci. .

Abstract

We investigated the association between the SDF-1-3' (c801G > A) variant and the development of diabetic macular edema (DME) or proliferative diabetic retinopathy (PDR) in a Hungarian cohort. SDF-1-3' (c801G > A) was genotyped in 103 patients with diabetic retinopathy and 31 age- and sex-matched non-diabetic controls. Central retinal and choroidal thickness was measured by swept-source optical coherence tomography. The distribution of heterozygous and homozygous SDF-1-3' (c801G > A) genotypes was similar in diabetic and control subjects. The SDF-3'(c801AA) genotype was associated with DME (n = 94 eyes, allele distribution p = 0.006, genotype distribution p = 0.01 OR: 2.48, 95% CL: 1.21-5.08) in both univariable and multivariable modelling, independent of duration and type of diabetes, HbA1C, hypertension and microalbuminuria (p = 0.03). DME occurred earlier in patients carrying the SDF-1 (c801A) allele (Kaplan-Meier analysis, log-rank test p = 0.02). A marginally significant association was found between the presence of the SDF-1 (c801A) allele and the development of PDR (n = 89 eyes, p = 0.06). The SDF-1-3' (c801A) allele also showed a correlation with central retinal (p = 0.006) and choroidal (p = 0.08) thickness. SDF-1-3' (c801G > A) is involved in the development of macular complications in DM independent of critical clinical factors, suggesting that SDF-1 may be a future therapeutic target for high-risk patients, especially those carrying the SDF-1 (c801A) allele.

Keywords: SDF-1-3′ (c801G > A) polymorphism; central retinal thickness; diabetic maculopathy; stromal cell-derived factor 1.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Association of SDF-1-3′A and G alleles with central retinal thickness and central choroidal thickness. Representative images of two patients of our study cohort: Image and layers of the retina and the choroid by swept-source optical coherence tomography (DRI OCT Triton, Topcon Co., Tokyo, Japan). (Panel (A)): A 55-year-old women with type-1 diabetes mellitus without any sign of diabetic retinopathy or diabetic macula oedema and standard choroidal thickness SDF-1 (c801GG) genotype. (Panel (B)): A64-year-old man with type-1 diabetes mellitus, slight diabetic macular oedema with thinner choroid; SDF-1 (c801AA) genotype. Note: p-values were calculated using the Kruskal–Wallis test.
Figure 2
Figure 2
Regression analysis between age and subfoveal choroidal thickness in the diabetic and control study groups (left) and the effect of hypertension on choroidal thickness in the whole cohort (right).
Figure 3
Figure 3
Comparison of time to DME in the eyes of diabetic patients with and without the presence of the SDF-1 (c801A) allele. Log-rank test for significance between groups p = 0.02.
See this image and copyright information in PMC

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