Endocrinology Department, University Children's Hospital, Belgrade, Serbia.
Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
PLoS One. 2024 Oct 24;19(10):e0312489. doi: 10.1371/journal.pone.0312489. eCollection 2024.
Genetic studies may provide valuable information about patients who are at high risk of developing diabetes nephropathy. Before the appearance of albuminuria, there are genetic mutations that can predispose the development of kidney disease.
The study included 130 adolescents with type 1 diabetes. Patients were divided into two groups according to the presence of microalbuminuria. This study was performed to examine clinical and laboratory differences between adolescents with type 1 diabetes with and without microalbuminuria and the distribution of the ACE, AGTR1, and MTHFR gene polymorphisms.
The mean microalbuminuria in the first group 6.41±7.35 significantly differs from the second group 0.82±0.48 (p<0.001). HbA1c, 24-hour proteinuria, and day-time systolic blood pressure were significantly higher in the MA group (p<0.05). Smaller systolic blood pressure percentage nocturnal decline was observed in the microalbuminuric group (p 0.030). The frequencies of the ACE DD, ID, and II genotypes were 12.5%, 50.0%, and 37.5%, respectively, among T1D patients with MA, and 19.3%, 56.1%, 24.6%, in the control group without MA (P = .510). The frequencies of the AGTR1 AA, AC, and CC genotypes were 62.5%, 25.0%, and 12.5% among TID patients with MA, and 49.1%, 43.9%, 8.0%, in the group without MA (p 0.326). The frequencies of the MTHFR CC, CT and TT genotypes were 37.5%, 50.0%, 12.5% among TID patients with MA, and 37.7%, 45.6%, 16.7% in the group without MA (p 0.901).
Our data suggest that common variants in the AGTR1, ACE, and MTHFR genes are not strongly associated with diabetic nephropathy in our patients with type 1 diabetes.
遗传研究可能为那些有发生糖尿病肾病风险的患者提供有价值的信息。在白蛋白尿出现之前,就存在使肾脏疾病发展的遗传突变。
这项研究纳入了 130 名 1 型糖尿病青少年患者。根据是否存在微量白蛋白尿,患者被分为两组。本研究旨在检查 1 型糖尿病伴和不伴微量白蛋白尿的青少年之间的临床和实验室差异,以及 ACE、AGTR1 和 MTHFR 基因多态性的分布。
第一组的平均微量白蛋白尿为 6.41±7.35,显著高于第二组的 0.82±0.48(p<0.001)。MA 组的 HbA1c、24 小时蛋白尿和白天收缩压显著更高(p<0.05)。微量白蛋白尿组夜间收缩压下降百分比较小(p 0.030)。在有 MA 的 T1D 患者中,ACE DD、ID 和 II 基因型的频率分别为 12.5%、50.0%和 37.5%,而在无 MA 的对照组中,其频率分别为 19.3%、56.1%和 24.6%(P =.510)。在有 MA 的 TID 患者中,AGTR1 AA、AC 和 CC 基因型的频率分别为 62.5%、25.0%和 12.5%,而在无 MA 的组中,其频率分别为 49.1%、43.9%和 8.0%(p 0.326)。在有 MA 的 TID 患者中,MTHFR CC、CT 和 TT 基因型的频率分别为 37.5%、50.0%和 12.5%,而在无 MA 的组中,其频率分别为 37.7%、45.6%和 16.7%(p 0.901)。
我们的数据表明,AGTR1、ACE 和 MTHFR 基因的常见变异与我们的 1 型糖尿病患者的糖尿病肾病没有很强的关联。