Moguib Omneya, Raslan Hala M, Abdel Rasheed Inas, Effat Laila, Mohamed Nadia, El Serougy Safaa, Hussein Ghada, Tawfeek Salwa, AbdelRahman Amany H, Omar Khalda
Internal Medicine Department, National Research Center, Egypt.
Clinical and Chemical Pathology Department, National Research Center, Egypt.
J Genet Eng Biotechnol. 2017 Dec;15(2):431-436. doi: 10.1016/j.jgeb.2017.05.001. Epub 2017 Jun 1.
Genetic factors play important role in the development of type 2 diabetes and diabetic nephropathy. Endothelial nitric oxide synthase (eNOS) gene is responsible for the bioavailability of nitric oxide and endothelial function.
To assess the association of the endothelial nitric oxide synthase (eNOS) (T786C and G894T) single nucleotide polymorphisms with Egyptian type 2 diabetes mellitus and diabetic nephropathy.
A total of 200 type 2 diabetic patients and 100 apparently healthy volunteers as controls were included in the study. They were subjected to clinical examination and laboratory tests: fasting blood glucose, HBA1C, lipid profile, serum creatinine, blood urea and albumin creatinine ratio (ACR). Assessment of the T786C and G894T polymorphisms in the eNOS gene was done using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
There was no significant difference in distribution of eNOS T-786C polymorphism between patients and controls; TT genotype of eNOS G894T was more frequent in diabetic patients with and without albuminuria compared to controls. Patients were divided into 3 groups according to ACR. Normoalbuminuria: 37 patients with ACR ≤ 30 mg/g, microalbuminuria: 96 patients with ACR > 30 mg/g and ≤ 300 mg/g, and macroalbuminuria: 67 patients with ACR > 300 mg/g. There was no significant difference in genotype distribution of eNOS T-786C between the 3 groups of diabetic patients. The prevalence of TT genotype of eNOS G894T was higher in microalbuminuria patients compared to other groups.
eNOS G894T variant may increase risk of type 2 diabetes with lack of association between eNOS T786C, eNOS G894T and DN in Egyptians.
遗传因素在2型糖尿病和糖尿病肾病的发生发展中起重要作用。内皮型一氧化氮合酶（eNOS）基因负责一氧化氮的生物利用度和内皮功能。
评估内皮型一氧化氮合酶（eNOS）（T786C和G894T）单核苷酸多态性与埃及2型糖尿病及糖尿病肾病的相关性。
本研究共纳入200例2型糖尿病患者和100例明显健康的志愿者作为对照。对他们进行临床检查和实验室检测：空腹血糖、糖化血红蛋白（HBA1C）、血脂谱、血清肌酐、血尿素和白蛋白肌酐比值（ACR）。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术对eNOS基因的T786C和G894T多态性进行评估。
患者与对照之间eNOS T-786C多态性的分布无显著差异；与对照相比，有和无蛋白尿的糖尿病患者中eNOS G894T的TT基因型更为常见。根据ACR将患者分为3组。正常白蛋白尿组：37例ACR≤30mg/g的患者，微量白蛋白尿组：96例ACR>30mg/g且≤300mg/g的患者，大量白蛋白尿组：67例ACR>300mg/g的患者。3组糖尿病患者之间eNOS T-786C的基因型分布无显著差异。与其他组相比，微量白蛋白尿患者中eNOS G894T的TT基因型患病率更高。
eNOS G894T变异可能增加2型糖尿病风险，而在埃及人中eNOS T786C、eNOS G894T与糖尿病肾病之间缺乏相关性。
