Faculty of Medicine, Department of Pediatric Nephrology, Gaziantep University, Gaziantep, Turkey.
Department of Pediatric Nephrology, Gaziantep University School of Medicine, Sahinbey, 27310, Gaziantep, Turkey.
Pediatr Nephrol. 2018 Feb;33(2):295-303. doi: 10.1007/s00467-017-3800-7. Epub 2017 Sep 30.
Uteroglobin (UG) is a multifunctional protein with anti-inflammatory properties. The aim of this study was to first evaluate the role of UG gene G38A polymorphism in childhood idiopathic nephrotic syndrome (INS), and determine whether this variation may be related to the occurrence of INS or a steroid response.
One hundred and thirty-six children diagnosed with INS in Gaziantep University, Department of Pediatric Nephrology, and 70 healthy volunteers were included. Children with INS were divided into two groups: steroid-sensitive (n = 84), and steroid-resistant (n = 52). Samples were examined using the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) enzyme method.
The distributions of AA, GG, and AG genotypes of UG gene G38A (G/A) were 16.9%, 44.9%, and 38.2% in the all-INS group, whereas they were 14.3%, 48.8%, and 36.9% in the steroid-sensitive INS (SSINS) group compared with 21.1%, 38.5%, and 40.4% in steroid-resistant INS (SRINS), and 5.7%, 41.4%, and 52.9% in controls. The risk of INS was increased almost 4-fold in children with the AA genotype (p = 0.016). The risk of having SSINS was increased 3.5-fold (p = 0.042) whereas the risk of SRINS was increased 4.8-fold in the same genotype (p = 0.014).
The uteroglobin gene may play an important role in the development of INS, and the AA genotype of UG gene G38A polymorphism was found more frequently in those children. Further studies evaluating all polymorphisms in larger patient groups are needed to exactly determine the effect of UG gene on the development of INS and steroid response in children.
尿生殖腺蛋白（UG）是一种具有抗炎特性的多功能蛋白。本研究的目的首先是评估 UG 基因 G38A 多态性在儿童特发性肾病综合征（INS）中的作用，并确定这种变异是否与 INS 的发生或激素反应有关。
本研究纳入了加济安泰普大学儿科肾脏病科诊断为 INS 的 136 名儿童和 70 名健康志愿者。将 INS 患儿分为两组：激素敏感组（n=84）和激素耐药组（n=52）。采用聚合酶链反应限制性片段长度多态性（PCR-RFLP）酶法检测样本。
UG 基因 G38A（G/A）的 AA、GG 和 AG 基因型在所有 INS 组中的分布分别为 16.9%、44.9%和 38.2%，而在激素敏感 INS（SSINS）组中分别为 14.3%、48.8%和 36.9%，在激素耐药 INS（SRINS）组中分别为 21.1%、38.5%和 40.4%，在对照组中分别为 5.7%、41.4%和 52.9%。AA 基因型患儿发生 INS 的风险增加近 4 倍（p=0.016）。具有 SSINS 的风险增加 3.5 倍（p=0.042），而具有相同基因型的 SRINS 风险增加 4.8 倍（p=0.014）。
尿生殖腺蛋白基因可能在 INS 的发生发展中起重要作用，UG 基因 G38A 多态性的 AA 基因型在这些患儿中更为常见。需要进一步评估更大患者群体中所有多态性的研究，以准确确定 UG 基因对儿童 INS 发生和激素反应的影响。
