Shahrokhzadeh Sima, Soleimani Azam, Kordi-Tamandani Dor-Mohammad, Sangtarash Mohammad Hossein, Nejati Omid, Taheri Mohsen
Department of Biology, University of Sistan and Baluchestan, Zahedan, Iran.
Legal Medicine Research Center, Legal Medicine Organization, Tehran, Iran.
Iran J Public Health. 2020 Jul;49(7):1364-1371. doi: 10.18502/ijph.v49i7.3591.
Vesicoureteral reflux (VUR) disease is the most common type of urinary tract anomalies in children. Genetic risk factors may be associated with the etiology of VUR. The role of the Glutathione S-transferases () as multifunctional enzymes is cellular oxidative stress handling. This is the first study aimed at evaluating the relative risk of and polymorphisms in VUR susceptibility in children and provides new important insights into the genetics of affected children.
The study was done in 2013 in Sistan and Baluchestan University, eastern Iran. Genotyping of three and genes were determined using the multiplex polymerase chain reaction assay in 216 reactions for 72 VUR children and 312 reactions for 104 healthy controls.
The presence of deletion was associated with high risk of VUR in children, whereas and genotypes did not show the same effect. Furthermore, the combination of and genotypes showed a significant influence on lower risk of VUR in children.
Deletion of functional gene is a genetic risk factor causing VUR in children. Interestingly, the combination of and null genotypes with has shown a protective role against risk of deletion.
膀胱输尿管反流(VUR)病是儿童最常见的泌尿系统异常类型。遗传风险因素可能与VUR的病因有关。谷胱甘肽S-转移酶()作为多功能酶,其作用是处理细胞氧化应激。这是第一项旨在评估儿童VUR易感性中 和 基因多态性相对风险的研究,并为受影响儿童的遗传学提供了新的重要见解。
该研究于2013年在伊朗东部的锡斯坦和俾路支斯坦大学进行。使用多重聚合酶链反应分析法对72名VUR儿童进行216次反应,对104名健康对照进行312次反应,确定三个 和 基因的基因分型。
缺失的存在与儿童VUR的高风险相关,而 和 基因型未显示相同的作用。此外, 和 基因型的组合对儿童VUR的较低风险有显著影响。
功能基因的缺失是导致儿童VUR的遗传风险因素。有趣的是, 和 无效基因型与 的组合对 缺失风险具有保护作用。