Correlation between Polymorphisms of the Superoxide Dismutase Gene and Idiopathic Nephrotic Syndrome in Chinese Children.

BACKGROUND: Genetic mutations are closely linked to childhood idiopathic nephrotic syndrome (INS). This study aimed to explore the associations between superoxide dismutase (SOD) gene polymorphisms and susceptibility to INS, as well as response to steroid therapy, in Chinese children. METHODS: Five single nucleotide polymorphisms (SNPs; rs4816407, rs1041740, rs4880, rs2758346, and rs3798215) in the SOD1 and SOD2 genes were genotyped using multiplex PCR combined with next-generation sequencing in 183 pediatric patients with INS and 100 healthy controls. RESULTS: The genotypic distributions of the tested SOD SNPs did not differ significantly between the INS group and healthy controls. Patients carrying the CC genotype of SOD1 rs1041740 exhibited a significantly higher risk of steroid-dependent (SD) nephrotic syndrome than those with steroid-sensitive (SS) nephrotic syndrome (p = 0.002, OR = 2.247, 95% CI = [1.191 - 4.239]). However, no significant differences in these five SNPs were observed between the SS and steroid-resistant (SR) subgroups (all p > 0.05). CONCLUSIONS: Our findings indicate that SOD gene polymorphisms are not associated with susceptibility to INS in Chinese children. Notably, SOD1 rs1041740 variants may increase the risk of steroid dependence in this pediatric population.