The Ninth Pediatrics, Hunan Provincial People's Hospital(The first-affiliated hospital of Hunan normal university), Changsha, Hunan410016, China.
Cell Mol Biol (Noisy-le-grand). 2020 Oct 31;66(7):72-75.
Nephrotic syndrome, also known as nephrosis, is a collection of symptoms in medicine and urology caused by damage to the basement membrane of the kidney glomeruli and the kidneys excrete a large amount of protein. This experiment was carried out to investigate the association of three single nucleotide polymorphisms (SNPs) of T-cell immunoglobulin and mucin-domain-containing-3 (Tim-3) with childhood primary nephrotic syndrome (PNS) steroid response in Han Chinese. For this purpose, a total of 218 children with steroid-resistant PNS and 189 children with steroid-responsive PNS were enrolled in this case-control study. Three single nucleotide polymorphisms (SNPs) of the TIM-3 gene promoter region (rs4704853, rs1051746, and rs10053538) were analyzed by polymerase chain reaction (PCR) and restriction enzyme digestion. Results showed that there were 124 males and 94 females in the steroid-resistant PNS group and 114 males and 75 females in the steroid-responsive PNS group. The mean ages of the two groups were 7.9 years and 7.7 years, respectively. The distribution of alleles of Rs1051746 and Rs10053538 were significantly different between the steroid-resistant PNS group and the steroid-responsive PNS group (P-value = 0.047 and 0.012, respectively). The distribution of their genotypes was also significantly different between the steroid-resistant PNS group and the steroid-responsive PNS group (P-value = 0.044 and 0.010, respectively). Haplotype G-C-G was less frequent among steroid-resistant PNS children than the steroid-responsive PNS children (P = 0.015). There was no significant difference between the three SNPs of TIM-3 and the clinical features of these PNS children (P>0.05). It concluded that this study provided evidence showing that the polymorphisms of Rs1051746 and Rs10053538 at the TIM-3 gene were related to childhood PNS steroid response. This result provided fundamental support for future studies on the role of TIM-3 in pathogenesis and therapy of childhood PNS.
肾病综合征，又称肾病，是医学和泌尿科的一组症状，由肾脏肾小球基底膜损伤和肾脏大量排泄蛋白质引起。本实验旨在探讨 T 细胞免疫球蛋白和粘蛋白结构域 3（Tim-3）的三个单核苷酸多态性（SNP）与汉族儿童原发性肾病综合征（PNS）激素反应的关系。为此，共纳入 218 例激素耐药性 PNS 患儿和 189 例激素反应性 PNS 患儿进行病例对照研究。采用聚合酶链反应（PCR）和限制性内切酶消化法分析 TIM-3 基因启动子区（rs4704853、rs1051746 和 rs10053538）的三个单核苷酸多态性（SNP）。结果显示，激素耐药性 PNS 组中男 124 例，女 94 例，激素反应性 PNS 组中男 114 例，女 75 例。两组平均年龄分别为 7.9 岁和 7.7 岁。Rs1051746 和 Rs10053538 的等位基因分布在激素耐药性 PNS 组和激素反应性 PNS 组之间差异有统计学意义（P 值分别为 0.047 和 0.012）。其基因型分布在激素耐药性 PNS 组和激素反应性 PNS 组之间差异也有统计学意义（P 值分别为 0.044 和 0.010）。激素耐药性 PNS 患儿的 G-C-G 单倍型较激素反应性 PNS 患儿少见（P = 0.015）。3 个 TIM-3 单核苷酸多态性与这些 PNS 患儿的临床特征无显著差异（P>0.05）。该研究结果表明，TIM-3 基因的 Rs1051746 和 Rs10053538 多态性与儿童 PNS 激素反应有关。这一结果为 TIM-3 在儿童 PNS 发病机制和治疗中的作用的进一步研究提供了基础支持。
