Panduru N M, Moţa E, Moţa Maria, Cimponeriu D, Serafinceanu C, Cheţa D M
"N.C. Paulescu" National Institute for Diabetes, Nutrition and Metabolic Diseases, Bucharest, Romania.
Rom J Intern Med. 2010;48(1):81-8.
Hyperglycaemia leads to ROS (Reactive oxygen species) generation, affecting the cells that cannot decrease glucose uptake such as: glomerular epithelial cells, mesangial cells and proximal tubule cells. ROS excess seems to activate important pathogenic pathways of development of diabetic nephropathy. The decrease of CAT activity, one of the most important antioxidant enzymes, following to some genetic defects, may be a risk factor for diabetic nephropathy. The purpose of this study is to investigate the association of 21A/T (rs7943316) polymorphism of CAT gene with advanced diabetic nephropathy in patients with type 1 diabetes in Romania. There have been studied 238 patients with T1D (type 1 diabetes), divided into the group with diabetic nephropathy (DN) (106 patients) and the group without renal affectation (132 patients). The genotyping has been made by using PCR-RFLP technique. The analysis of association has been made by using DeFinetti programme. The value considered significant has been p < 0.05. There has been a deviation from Hardy-Weinberg equilibrium in the group with diabetic nephropathy (p = 0.019), the equilibrium being preserved by the control group (p = 0.771). T allele does not confer a risk for advanced diabetic nephropathy (ORT = 0.757, 95% C.I. = 0.405-1.414; P = 0.381), the result being statistically insignificant even taking into consideration the risk allele A (ORA = 0.793, 95% C.I. = 0.465-1.350; P = 0.392). The results remain concordant too after applying the Cochran -Armitage test. Our data do not suggest an effect of 21A/T (rs7943316) polymorphism in the susceptibility for diabetic nephropathy in Romanian patients with type 1 diabetes. Further studies are necessary in order to demonstrate or exclude the role of CAT gene in diabetic nephropathy in patients with type 1 diabetes.
高血糖会导致活性氧（ROS）生成，影响那些无法降低葡萄糖摄取的细胞，如：肾小球上皮细胞、系膜细胞和近端小管细胞。ROS过量似乎会激活糖尿病肾病发展的重要致病途径。由于某些基因缺陷导致的最重要的抗氧化酶之一——CAT活性降低，可能是糖尿病肾病的一个危险因素。本研究的目的是调查罗马尼亚1型糖尿病患者中CAT基因21A/T（rs7943316）多态性与晚期糖尿病肾病的关联。研究了238例1型糖尿病（T1D）患者，分为糖尿病肾病（DN）组（106例患者）和无肾脏病变组（132例患者）。采用PCR-RFLP技术进行基因分型。使用DeFinetti程序进行关联分析。具有统计学意义的值为p < 0.05。糖尿病肾病组存在偏离哈迪-温伯格平衡的情况（p = 0.019），而对照组维持平衡（p = 0.771）。T等位基因不会增加晚期糖尿病肾病的风险（优势比（ORT）= 0.757，95%置信区间（C.I.）= 0.405 - 1.414；P = 0.381），即使考虑风险等位基因A，结果在统计学上也无显著意义（优势比（ORA）= 0.793，95%置信区间（C.I.）= 0.465 - 1.350；P = 0.392）。应用 Cochr an - Armitage检验后结果也保持一致。我们的数据并不表明21A/T（rs7943316）多态性对罗马尼亚1型糖尿病患者患糖尿病肾病的易感性有影响。为了证明或排除CAT基因在1型糖尿病患者糖尿病肾病中的作用，还需要进一步研究。
