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

• Published in: International journal of molecular sciences Vol. 25; no. 15; p. 8036
• Main Authors: Ecsedy, Monika, Kovacs, Illes, Szigeti, Andrea, Horvath, Hajnalka, Lenart, Lilla, Recsan, Zsuzsanna, Medveczki, Timea, Nagy, Zoltan Zsolt, Fekete, Andrea
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01.08.2024
• Subjects: Aged; Alleles; Angiogenesis; Blindness; Case-Control Studies; Chemokine CXCL12 - genetics; Chemokines; Development and progression; Diabetes; Diabetic neuropathy; Diabetic retinopathy; Diabetic Retinopathy - genetics; Disease; Female; Genetic Predisposition to Disease; Genotype; Genotype & phenotype; Health aspects; Humans; Hungary; Hypertension; Hypotheses; Localization; Macular Edema - genetics; Male; Metabolism; Middle Aged; Polymorphism, Single Nucleotide; Tomography, Optical Coherence; Type 2 diabetes; Vascular endothelial growth factor; Hungary; Japan; diabetic maculopathy; SDF-1-3′ (c801G > A) polymorphism; central retinal thickness; stromal cell-derived factor 1
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms25158036

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.