Hammad A, Yahia S, Laimon W, Hamed S M, Shouma A, Shalaby N M, Abdel-Hady D, Ghanem R, El-Farahaty R M, El-Bassiony S R, Hammad E M
1 Pediatric Nephrology Unit, Department of Pediatrics, Faculty of Medicine, Mansoura University, Egypt.
2 Pediatric Genetics Unit, Department of Pediatrics, Faculty of Medicine, Mansoura University, Egypt.
Lupus. 2017 Jun;26(7):762-767. doi: 10.1177/0961203316682096. Epub 2016 Dec 12.
Introduction Angiotensin-converting enzyme (ACE) is crucial in the pathogenesis of systemic lupus erythematosus through angiotensin II which regulates vascular tone and endothelial functions. Objectives To study the frequency of ACE insertion/deletion (I/D) gene polymorphism in Egyptian children with systemic lupus erythematosus and its possible relation to the renal pathology in cases with lupus nephritis. Subjects and methods The frequency of ACE gene insertion/deletion polymorphism genotypes was determined in 78 Egyptian children with systemic lupus erythematosus and compared to a matched group of 140 healthy controls using polymerase chain reaction. Results The DD genotype of the ACE gene was higher in systemic lupus erythematosus patients when compared to controls ( P<0.0001; odds ratio (OR) 2.4; 95% confidence interval (CI) 1.7-3.3) and the D allele was more frequent than the I allele in systemic lupus erythematosus patients in comparison to controls ( P < 0.0001; OR = 2.2; 95% CI = (1.6-3.1). In the lupus nephritis group, the DD genotype was significantly higher in those with proliferative lupus nephritis when compared to those with non-proliferative lupus nephritis ( P = 0.02; OR = 1.45; 95% CI = 1.4-1.6). Also, patients with proliferative lupus nephritis showed a higher frequency of the D allele ( P < 0.001; OR = 1.98; 95% CI = 1.3-2.9). Conclusion The D allele and DD genotype of the ACE gene appear to be a risk factor for the susceptibility of systemic lupus erythematosus and occurrence of proliferative nephritis in Egyptian children.
引言 血管紧张素转换酶（ACE）通过调节血管张力和内皮功能的血管紧张素II在系统性红斑狼疮的发病机制中起关键作用。目的 研究埃及系统性红斑狼疮患儿血管紧张素转换酶插入/缺失（I/D）基因多态性的频率及其与狼疮性肾炎病例肾脏病理的可能关系。对象与方法 采用聚合酶链反应测定78例埃及系统性红斑狼疮患儿血管紧张素转换酶基因插入/缺失多态性基因型，并与140名匹配的健康对照进行比较。结果 与对照组相比，系统性红斑狼疮患者血管紧张素转换酶基因的DD基因型更高（P<0.0001；优势比（OR）2.4；95%置信区间（CI）1.7 - 3.3），与对照组相比，系统性红斑狼疮患者中D等位基因比I等位基因更常见（P < 0.0001；OR = 2.2；95% CI =（1.6 - 3.1）。在狼疮性肾炎组中，与非增殖性狼疮性肾炎患者相比，增殖性狼疮性肾炎患者的DD基因型显著更高（P = 0.02；OR = 1.45；95% CI = 1.4 - 1.6）。此外，增殖性狼疮性肾炎患者的D等位基因频率更高（P < 0.001；OR = 1.98；95% CI = 1.3 - 2.9）。结论 血管紧张素转换酶基因的D等位基因和DD基因型似乎是埃及儿童系统性红斑狼疮易感性和增殖性肾炎发生的危险因素。
