NR3C1基因多态性与原发性肾病综合征患者的类固醇抵抗相关。
NR3C1 gene polymorphisms are associated with steroid resistance in patients with primary nephrotic syndrome.
作者信息
Liu Jie, Wan Zan, Song Qianqian, Li Zhi, He Yijing, Tang Yongjun, Xie Wanying, Xie Yanyun, Zhang Jun
机构信息
Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, P. R. China.
Institute of Clinical Pharmacology, Central South University; Hunan Key Laboratory of Pharmacogenetics, Changsha 410078, Hunan, P. R. China.
出版信息
Pharmacogenomics. 2018 Jan;19(1):45-60. doi: 10.2217/pgs-2017-0084. Epub 2017 Dec 6.
AIM
The aim of this study was to investigate the role of SNPs of genes involved in the glucocorticoid pathway in the development of steroid resistance in patients with primary nephrotic syndrome.
METHODS
Sequenom MassARRAY method was used to sequence 25 SNP genotypes in 154 patients. The frequency distribution of the genotypes was compared between patients with steroid-sensitive nephrotic syndrome and those with steroid-resistant nephrotic syndrome.
RESULTS
NR3C1 rs6196 G allele carriers had a decreased risk of steroid resistance compared with that of the A allele carriers. The presence of rs10052957 and rs258751 A alleles could reduce the incidence of steroid resistance compared with that with G allele. Haplotype analysis showed AAG and GGA haplotypes that contain NR3C1 rs10052957, rs258751 and rs6196 were associated with steroid resistance.
CONCLUSION
NR3C1 gene polymorphisms are significantly associated with the response to glucocorticoids in patients with primary nephrotic syndrome.
目的
本研究旨在探讨糖皮质激素途径相关基因单核苷酸多态性（SNPs）在原发性肾病综合征患者激素抵抗发生中的作用。
方法
采用Sequenom MassARRAY方法对154例患者的25个SNP基因型进行测序。比较激素敏感型肾病综合征患者和激素抵抗型肾病综合征患者基因型的频率分布。
结果
与NR3C1 rs6196 A等位基因携带者相比，G等位基因携带者激素抵抗风险降低。与G等位基因相比，rs10052957和rs258751 A等位基因的存在可降低激素抵抗的发生率。单倍型分析显示，包含NR3C1 rs10052957、rs258751和rs6196的AAG和GGA单倍型与激素抵抗相关。
结论
NR3C1基因多态性与原发性肾病综合征患者对糖皮质激素的反应显著相关。
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