Shi Jianrong, Li Wei, Tao Ran, Zhou Dongming, Guo Yajun, Fu Haidong, Sun Anna, Zhang Junfeng, Mao Jianhua
Department of Clinical Laboratory, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center For Child Health, Hangzhou, China.
Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center For Child Health, Hangzhou, China.
Lab Med. 2023 Jan 5;54(1):35-40. doi: 10.1093/labmed/lmac062.
Our aim was to investigate the association between gene polymorphisms in catalase (CAT), a well-known oxidative stress regulator, and susceptibility to idiopathic nephrotic syndrome (INS) or responses to steroid therapy in a Chinese pediatric population.
We analyzed 3 CAT single-nucleotide polymorphisms (SNVs; rs7943316, rs769217, and rs12270780) using multi-polymerase chain reaction combined with next-generation sequencing in 183 INS patients and 100 healthy controls.
For the allele and genotype frequencies of the CAT SNVs, no significant differences were observed between INS patients and controls. Patients with C allele of CAT rs769217 had a higher risk of developing steroid-dependent nephrotic syndrome than the steroid-sensitive nephrotic syndrome patients (P = 0.018; odds ratio = 1.76).
Our data suggests that genetic variations in CAT were unlikely to confer susceptibility to INS in Chinese children, whereas the C allele of the CAT rs769217 polymorphism showed a strong association with steroid-dependent responses in Chinese INS children.
我们的目的是研究著名的氧化应激调节因子过氧化氢酶（CAT）基因多态性与中国儿童特发性肾病综合征（INS）易感性或对类固醇治疗反应之间的关联。
我们采用多重聚合酶链反应结合下一代测序技术，对183例INS患者和100例健康对照者的3个CAT单核苷酸变异（SNV；rs7943316、rs769217和rs12270780）进行了分析。
对于CAT SNV的等位基因和基因型频率，INS患者与对照组之间未观察到显著差异。携带CAT rs769217 C等位基因的患者发生类固醇依赖型肾病综合征的风险高于类固醇敏感型肾病综合征患者（P = 0.018；比值比 = 1.76）。
我们的数据表明，CAT基因变异不太可能使中国儿童易患INS，而CAT rs769217多态性的C等位基因与中国INS儿童的类固醇依赖反应密切相关。
