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基因多态性(rs1800625)与1型糖尿病:早期诊断和风险预测的潜在新模型

gene polymorphism (rs1800625) and type 1 diabetes mellitus: A potential new model for early diagnosis and risk prediction.

作者信息

Mohamed Amal A, Al-Obeidat Feras, Abdallah Gamil M, Ibrahim Ibrahim T, Ali Nada S, Hussein Mona A, Hafez Wael, Girgiss Mina W, Shalby Hassan, El-Bohy Doaa, Elgamal Rasha, Farghly Maysa I, Shaheen Mahmoud M, Elmahdy Reem, Nagaty Raghda A, Hassan Noheir Aif, Hamdi Amel, Mahmoud Mohamed O

机构信息

Department of Biochemistry and Molecular Biology, National Hepatology and Tropical Medicine Research Institute, General Organization of Teaching Hospitals and Institutions, Cairo, Egypt.

College of Technological Innovation, Zayed University, Abu Dhabi, United Arab Emirates.

出版信息

Narra J. 2025 Apr;5(1):e1603. doi: 10.52225/narra.v5i1.1603. Epub 2025 Jan 30.

Abstract

Studies have associated advanced glycation end-products (AGEs) and the polymorphism of the AGEs receptor () gene with clinical disorders, such as diabetes, in certain ethnic groups. However, its association with type 1 diabetes mellitus (T1DM) in Egyptians has not yet been explored. The aim of this study was to investigate the association between the gene polymorphism rs1800625 and T1DM susceptibility in Egyptians. A case- control study was conducted with 177 T1DM patients and 177 age- and sex-matched healthy controls. Variables included glycemic markers (fasting blood glucose (FBG), postprandial blood glucose (PBG), hemoglobin A1c (HbA1c)), anthropometric measurements (waist circumference, body mass index (BMI)), lipid profile (total cholesterol, triglycerides, high-density lipoprotein (HDL), low-density lipoprotein (LDL)), renal function (albumin-to-creatinine ratio (A/C ratio), serum creatinine), and history of hypertension and smoking. Genotype distribution and allele frequency of the rs1800625 polymorphism (TT, TC, CC genotypes; T and C alleles) were assessed. This study identified the rs1800625 polymorphism as a significant genetic factor associated with T1DM susceptibility. The CC genotype was significantly more prevalent in patients compared to controls (29.9% vs 11.9%; OR: 3.62; 95%CI: 1.87-6.97;  < 0.001). Similarly, the C allele was more common in patients (54.5% vs 41.0%, OR: 1.73; 95%CI: 1.28-2.33;  < 0.001). Multivariate analysis revealed that HbA1c (adjusted OR (aOR):  12.97; 95%CI: 4.00-42.05;  < 0.001), FBG (aOR: 8.96; 95%CI: 1.59-50.47;  = 0.010), and the rs1800625 polymorphism (aOR: 1.82; 95%CI: 1.146-2.876;  = 0.010) were significant predictors of T1DM. In conclusion, a genetic association was found between the gene polymorphism rs1800625 and T1DM susceptibility, with the CC genotype and C allele being more common in T1DM patients. FBG, HbA1c, and rs1800625 were identified as key predictors for T1DM, with HbA1c being the strongest. These findings highlight the importance of integrating genetic and metabolic factors in managing T1DM.

摘要

研究表明,晚期糖基化终产物(AGEs)及AGEs受体()基因的多态性与某些种族的临床疾病(如糖尿病)有关。然而,其与埃及人1型糖尿病(T1DM)的关联尚未得到研究。本研究旨在探讨基因多态性rs1800625与埃及人T1DM易感性之间的关联。进行了一项病例对照研究,纳入177例T1DM患者和177例年龄及性别匹配的健康对照。变量包括血糖指标(空腹血糖(FBG)、餐后血糖(PBG)、糖化血红蛋白(HbA1c))、人体测量指标(腰围、体重指数(BMI))、血脂谱(总胆固醇、甘油三酯、高密度脂蛋白(HDL)、低密度脂蛋白(LDL))、肾功能(白蛋白与肌酐比值(A/C比值)、血清肌酐)以及高血压和吸烟史。评估了rs1800625多态性的基因型分布和等位基因频率(TT、TC、CC基因型;T和C等位基因)。本研究确定rs1800625多态性是与T1DM易感性相关的一个重要遗传因素。与对照组相比,CC基因型在患者中显著更常见(29.9%对11.9%;OR:3.62;95%CI:1.87 - 6.97;<0.001)。同样,C等位基因在患者中更常见(54.5%对41.0%,OR:1.73;95%CI:1.28 - 2.33;<0.001)。多变量分析显示,HbA1c(校正OR(aOR):12.97;95%CI:4.00 - 42.05;<0.001)、FBG(aOR:8.96;95%CI:1.59 - 50.47;=0.010)和rs1800625多态性(aOR:1.82;95%CI:1.146 - 2.876;=0.010)是T1DM的显著预测因素。总之,发现基因多态性rs1800625与T1DM易感性之间存在遗传关联,CC基因型和C等位基因在T1DM患者中更常见。FBG、HbA1c和rs1800625被确定为T1DM的关键预测因素,其中HbA1c最强。这些发现凸显了在管理T1DM中整合遗传和代谢因素的重要性。

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