Buraczyńska Monika, Ksiazek Piotr, Łopatyński Jerzy, Spasiewicz Danuta, Nowicka Teresa, Ksiazek Andrzej
Katedra i Klinika Nefrologii AM w Lublinie.
Pol Arch Med Wewn. 2002 Aug;108(2):725-30.
Diabetic nephropathy is the most frequent cause of end-stage renal failure. One of the crucial factors in a development of renal and cardiovascular complications of diabetes is genetic predisposition. The genes of the renin-angiotensin system are important group of candidate genes involved in pathogenesis of chronic renal diseases. The purpose of our study was the evaluation of a possible role of genetic polymorphisms of some of the RAS system genes in the nephropathy in type 2 diabetes. The study was performed in 117 patients with diabetic nephropathy, compared with 200 healthy subjects as a control group. The following polymorphisms: insertion/deletion (I/D) of the angiotensin-converting enzyme gene (ACE), M235T of the angiotensinogen gene (AGT) and A1166C of the angiotensin II type 1 receptor gene (AT1R) were evaluated by polymerase chain reaction (PCR). No statistically significant differences between groups were found in the allele frequency and genotype distribution for ACE and AGT polymorphisms. The results for the AT1R gene polymorphism revealed significant differences in allele and genotype frequencies. The homozygous CC genotype was more frequent in patients with diabetic nephropathy than in control group. Both genotypes with the C allele (AC + CC) were found in 56% of patients compared to 38% in control group. These results suggest increased susceptibility to diabetic nephropathy in individuals carrying the CC genotype. Therefore, the A1166C polymorphism of the AT1R gene could be a potential genetic marker for increased susceptibility to renal complications in type 2 diabetes.
糖尿病肾病是终末期肾衰竭最常见的病因。糖尿病肾脏和心血管并发症发生发展的关键因素之一是遗传易感性。肾素-血管紧张素系统基因是参与慢性肾脏疾病发病机制的重要候选基因群体。我们研究的目的是评估肾素-血管紧张素系统(RAS)某些基因的基因多态性在2型糖尿病肾病中可能发挥的作用。该研究纳入了117例糖尿病肾病患者,并与200名健康受试者作为对照组进行比较。通过聚合酶链反应(PCR)评估了以下多态性:血管紧张素转换酶基因(ACE)的插入/缺失(I/D)、血管紧张素原基因(AGT)的M235T以及血管紧张素II 1型受体基因(AT1R)的A1166C。在ACE和AGT多态性的等位基因频率和基因型分布方面,两组之间未发现统计学上的显著差异。AT1R基因多态性的结果显示等位基因和基因型频率存在显著差异。糖尿病肾病患者中纯合CC基因型比对照组更常见。携带C等位基因的两种基因型(AC + CC)在56%的患者中出现,而对照组为38%。这些结果表明,携带CC基因型的个体患糖尿病肾病的易感性增加。因此,AT1R基因的A1166C多态性可能是2型糖尿病肾脏并发症易感性增加的潜在遗传标志物。