Department of Pharmacology, School of Medicine, Gaziantep University, Gaziantep, Turkey.
Ren Fail. 2012;34(1):19-23. doi: 10.3109/0886022X.2011.623493. Epub 2011 Oct 21.
It has been shown that angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism affects the circulating and cellular levels of ACE and may be a risk factor in several renal diseases. We analyzed the association of ACE gene I/D polymorphism with the clinical presentation of minimal change nephrotic syndrome (MCNS) in a Turkish child population. This study consisted of 97 children with MCNS and 144 healthy controls. Genotyping of ACE gene was performed using polymerase chain reaction (PCR). The distributions of ACE genotypes were II in 13%, ID in 49%, and DD in 38% in patient group, and 9%, 49%, and 42% in control group, respectively. The frequency of the D allele was 63% and that of the I allele was 37% in patients. There were no relevant differences in the allele frequencies and genotypes of ACE I/D polymorphism between patients and controls. However, DD genotype was higher in boys in children with MCNS (78.4%. vs. 50.0%, p = 0.004). The frequencies of DD genotype and D allele in boys were 7.25 and 2.56 times higher than II genotype and I allele in the patient group, respectively. We suggest that DD genotype in boys may be one of the risk factors for MCNS.
已经表明血管紧张素转换酶（ACE）基因插入/缺失（I/D）多态性影响 ACE 的循环和细胞水平，并且可能是几种肾脏疾病的危险因素。我们分析了 ACE 基因 I/D 多态性与土耳其儿童人群中微小病变肾病综合征（MCNS）临床表现的相关性。本研究包括 97 例 MCNS 患儿和 144 例健康对照者。采用聚合酶链反应（PCR）对 ACE 基因进行基因分型。患者组中 ACE 基因型的分布为 II 型占 13%，ID 型占 49%，DD 型占 38%，对照组中分别为 9%、49%和 42%。D 等位基因的频率为 63%，I 等位基因的频率为 37%。患者和对照组之间 ACE I/D 多态性的等位基因频率和基因型无显著差异。然而，在 MCNS 患儿中，DD 基因型在男孩中更为常见（78.4%比 50.0%，p = 0.004）。在患者组中，DD 基因型和 D 等位基因的频率分别比 II 基因型和 I 等位基因高 7.25 倍和 2.56 倍。我们认为，DD 基因型在男孩中可能是 MCNS 的一个危险因素。
