Prasun P, Prasad N, Tripathi G, Jafar T, Sharda S, Gulati S, Agrawal S
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Indian J Nephrol. 2011 Jan;21(1):26-9. doi: 10.4103/0971-4065.75215.
The aim of the study was to study the distribution of angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism, and its association with steroid responsiveness in children with idiopathic nephrotic syndrome (INS). One hundred twenty-five children with INS were classified into two groups: steroid-sensitive nephrotic syndrome (SSNS: n = 90) and steroid-resistant nephrotic syndrome (SRNS: n=35). The control group consisted of 150 unrelated healthy children. Genomic DNA was extracted from peripheral leucocytes by the standard salting-out method. ACE genotyping was performed and ACE genotypes DD, ID, and II were compared between different groups. The frequency distribution of the DD genotype was significantly increased in children with INS compared to control subjects (P = 0.0012) while the difference was not significant (P = 0.071) between SSNS and control subjects. The frequency distribution of the DD genotype was significantly high in the SRNS group compared to control subjects (P < 0.0001). The distribution of the DD genotype was high in SRNS compared to SSNS group patients (P = 0.016). In conclusion, the presence of the DD genotype may predict risk for steroid resistance in childhood INS.
本研究旨在探讨血管紧张素转换酶（ACE）基因插入/缺失（I/D）多态性的分布及其与特发性肾病综合征（INS）患儿类固醇反应性的关系。125例INS患儿被分为两组：类固醇敏感型肾病综合征（SSNS：n = 90）和类固醇抵抗型肾病综合征（SRNS：n = 35）。对照组由150名无亲缘关系的健康儿童组成。采用标准盐析法从外周血白细胞中提取基因组DNA。进行ACE基因分型，并比较不同组之间的ACE基因型DD、ID和II。与对照组相比，INS患儿中DD基因型的频率分布显著增加（P = 0.0012），而SSNS与对照组之间的差异不显著（P = 0.071）。与对照组相比，SRNS组中DD基因型的频率分布显著较高（P < 0.0001）。与SSNS组患者相比，SRNS组中DD基因型的分布较高（P = 0.016）。总之，DD基因型的存在可能预示儿童INS中类固醇抵抗的风险。
