Życzkowski Marcin, Żywiec Joanna, Nowakowski Krzysztof, Paradysz Andrzej, Grzeszczak Władyslaw, Gumprecht Janusz
Department of Urology, School of Medicine with Division of Dentistry in Zabrze, Medical University of Silesia, Katowice, Poland.
Department of Internal Medicine, Diabetology and Nephrology, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice, Poland.
Int Urol Nephrol. 2017 Mar;49(3):387-397. doi: 10.1007/s11255-016-1483-9. Epub 2016 Dec 17.
Etiopathogenesis of VUR is composite and not fully understood. Many data indicate the importance of genetic predisposition. The aim of this study was to establish the relationship of selected polymorphisms: 14094 polymorphism of the ACE, polymorphism rs1800469 of TGFβ-1, rs5443 gene polymorphism of the GNB3 and receptor gene polymorphism rs5186 type 1 AGTR1 with the occurrence of the primary vesicoureteral reflux.
The study included 190 children: 90 with the primary VUR confirmed with the voiding cystourethrogram and excluded secondary VUR and a control group of 100 children without a history of the diseases of the genitourinary tract.
The study was planned in the scheme: "tested case versus control." Genomic DNA was isolated from the leukocytes of peripheral blood samples. The results were statistically analyzed in the Statistica 10 using χ test and analysis of the variance Anova.
Any of the four studied polymorphisms showed no difference in the distribution of genotypes between patients with primary vesicoureteral reflux and the control group. In patients with VUR and TT genotype polymorphism rs5443 GNB3 gene, the glomerular filtration rate was significantly higher than in patients with genotype CC or CT.
(1) No relationship was found between the studied polymorphisms (14094 ACE gene, rs1800469 gene TGFβ1, GNB3 gene rs5443, rs5186 AGTR1 gene) and the occurrence of primary vesicoureteral reflux. (2) TT genotype polymorphism rs5443 GNB3 gene may be a protective factor for the improved renal function in patients with primary vesicoureteral reflux in patients with genotype CC or CT.
膀胱输尿管反流的病因是多因素的，尚未完全明确。许多数据表明遗传易感性的重要性。本研究的目的是确定所选多态性之间的关系：ACE的14094多态性、TGFβ-1的rs1800469多态性、GNB3的rs5443基因多态性以及1型AGTR1受体基因多态性rs5186与原发性膀胱输尿管反流发生的关系。
本研究纳入190名儿童：90名经排尿膀胱尿道造影证实为原发性膀胱输尿管反流且排除继发性膀胱输尿管反流的儿童，以及100名无泌尿生殖道疾病史的儿童作为对照组。
本研究采用“病例对照”方案设计。从外周血样本的白细胞中分离基因组DNA。使用χ检验和方差分析（Anova）在Statistica 10软件中对结果进行统计学分析。
在原发性膀胱输尿管反流患者和对照组之间，所研究的四种多态性中的任何一种在基因型分布上均无差异。在膀胱输尿管反流患者中，GNB3基因rs5443多态性的TT基因型患者的肾小球滤过率显著高于CC或CT基因型患者。
（1）未发现所研究的多态性（ACE基因14094、TGFβ1基因rs1800469、GNB3基因rs5443、AGTR1基因rs5186）与原发性膀胱输尿管反流的发生之间存在关联。（2）GNB3基因rs5443多态性的TT基因型可能是原发性膀胱输尿管反流患者中CC或CT基因型患者肾功能改善的保护因素。
