Melake Addisu, Alamnie Getachew, Mekonnen Melaku
Department of Biomedical Science, College of Health Science, Debre Tabor University, Debre Tabor, Ethiopia.
Department of Biology, College of Natural and Computational Science, Mekdela Amba University, Tulu Awulia, Ethiopia.
Int J Immunogenet. 2025 Aug;52(4):195-202. doi: 10.1111/iji.12719. Epub 2025 Jun 3.
Several studies suggest that a deficiency in vitamin D might be a potential risk factor for developing diabetic retinopathy. Research has extensively studied vitamin D receptor genes, such as the FokI gene polymorphisms, and found links between these genetic variations and susceptibility to diabetic retinopathy across different populations. This study aimed to investigate how vitamin D deficiency and vitamin D receptor FokI gene polymorphisms influence the risk of diabetic retinopathy complications in individuals with Type 2 diabetes mellitus. This was a hospital-based case-control research with 153 diabetic retinopathy patients, 153 Type 2 diabetes mellitus patients, and 153 age- and sex-matched healthy controls. Through the collection and analysis of clinical and demographic data, the study assessed the diabetic retinopathy risk factors. The FokI genotypes were determined by analysing DNA isolated from blood samples using polymerase chain reaction and agarose gel electrophoresis. Diabetic retinopathy patients had a much higher prevalence of VDD (OR = 6.24, 95% CI = 3.14-12.39; p < 0.001) than Type 2 diabetes patients and healthy controls. Furthermore, diabetic retinopathy patients had significantly higher frequencies of the FokI ff genotype (OR = 2.04; 95% CI = 1.24-3.75; p = 0.005) and the f allele (OR = 1.56; 95% CI = 1.18-2.06; p = 0.001) than Type 2 diabetes patients and healthy controls. These results indicate that vitamin D deficiency and vitamin D receptor FokI gene polymorphisms are risk factors for the onset and progression of diabetic retinopathy. There is a significant correlation between vitamin D deficiency and the development of diabetic retinopathy. Moreover, the FokI gene of the ff genotype and the f allele have been linked to an increased risk of developing diabetic retinopathy complications in patients with a history of Type 2 diabetes mellitus in the Ethiopian population under study.
多项研究表明，维生素D缺乏可能是发生糖尿病视网膜病变的一个潜在风险因素。研究已广泛研究了维生素D受体基因，如FokI基因多态性，并发现这些基因变异与不同人群患糖尿病视网膜病变的易感性之间存在联系。本研究旨在调查维生素D缺乏和维生素D受体FokI基因多态性如何影响2型糖尿病患者发生糖尿病视网膜病变并发症的风险。这是一项基于医院的病例对照研究，研究对象包括153例糖尿病视网膜病变患者、153例2型糖尿病患者以及153例年龄和性别匹配的健康对照者。通过收集和分析临床及人口统计学数据，该研究评估了糖尿病视网膜病变的风险因素。采用聚合酶链反应和琼脂糖凝胶电泳分析从血样中分离的DNA来确定FokI基因型。糖尿病视网膜病变患者的维生素D缺乏患病率（比值比=6.24，95%置信区间=3.14-12.39；p<0.001）远高于2型糖尿病患者和健康对照者。此外，糖尿病视网膜病变患者的FokI ff基因型频率（比值比=2.04；95%置信区间=1.24-3.75；p=0.005）和f等位基因频率（比值比=1.56；95%置信区间=1.18-2.06；p=0.001）显著高于2型糖尿病患者和健康对照者。这些结果表明，维生素D缺乏和维生素D受体FokI基因多态性是糖尿病视网膜病变发生和进展的风险因素。维生素D缺乏与糖尿病视网膜病变的发生之间存在显著相关性。此外，在本研究的埃塞俄比亚人群中，ff基因型的FokI基因和f等位基因与有2型糖尿病病史的患者发生糖尿病视网膜病变并发症的风险增加有关。
