20.500.12556/RUL-185504 SLC22A3 rs2048327 polymorphism is associated with diabetic retinopathy in caucasians with type 2 diabetes mellitus The Solute Carrier Family 22 Member 3 (SLC22A3) is a high-capacity, low-affinity transporter for the neurotransmitters norepinephrine, epinephrine, dopamine, serotonin, and histamine. SLC22A3 plays important roles in interorgan and interorganism small-molecule communication, and also regulates local and overall homeostasis in the body. Our aim was to investigate the association between the rs2048327 gene polymorphism and diabetic retinopathy (DR) in Slovenian patients with type 2 diabetes mellitus (T2DM). We also investigated SLC22A3 expression in the fibrovascular membranes (FVMs) of patients with proliferative DR (PDR). Our study involved 1555 unrelated Caucasians with T2DM with a defined ophthalmologic status: 577 of them with DR as the study group, and 978 without DR as the control group. The investigated polymorphisms were genotyped using the KASPar genotyping assay. The expression of SLC22A3 (organic cation transporter 3-OCT3) was examined via immunohistochemistry in human FVM from 16 patients with PDR. The C allele and CC genotype frequencies of the rs2048327 polymorphism were significantly higher in the study group compared to the controls. The logistic regression analysis showed that the carriers of the CC genotype in the recessive genetic models of this polymorphism have a 1.531-fold increase (95% CI 1.083-2.161) in the risk of developing DR. Patients with the C allele of rs2048327 compared to the homozygotes for the wild type T allele exhibited a higher density of SLC22A3 (OCT3)-positive cells (10.5 ± 4.5/mm2 vs. 6.1 ± 2.7/mm2, respectively; p < 0.001). We showed the association of the rs2048327 SLC22A3 gene polymorphism with DR in a Slovenian cohort with type 2 diabetes mellitus, indicating its possible role as a genetic risk factor for the development of this diabetic complication. SLC22A3 diabetic retinopathy immunohistochemistry rs2048327 diabetična retinopatija imunohistokemija true false true Angleški jezik Slovenski jezik Članek v reviji 2026-08-07 07:58:41 2026-08-07 12:59:07 2026-08-08 04:08:07 0000-00-00 00:00:00 2023 0 0 10 iss. 8, art. 2303 Vol. 11 2023 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 611 2227-9059 10.3390/biomedicines11082303 162362371 RAZ_Grbic_Emin_2023.pdf RAZ_Grbic_Emin_2023.pdf 1 77066B2C6180B54C9AAA37D061720D2B 045de236db6cc3770e753ed7139da48ed36010ecdf5b56ca19f980adaebe9283 94f8b790-924e-11f1-9b0d-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=244147 https://www.mdpi.com/2227-9059/11/8/2303 1 b6143bf8-9224-11f1-9b0d-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=244065 Medicinska fakulteta 0 0 0