Department of Immunology, Transplantology and Internal Diseases, Medical University of Warsaw, 02-006 Warsaw, Poland.
ProMix Center (ProteogenOmix in Medicine) at the Department of Immunology, Transplantology and Internal Diseases, Medical University of Warsaw, 02-006 Warsaw, Poland.
Cells. 2021 Nov 16;10(11):3186. doi: 10.3390/cells10113186.
Glomerular diseases (GNs) are responsible for approximately 20% of chronic kidney diseases. Glucocorticoid receptor gene () single nucleotide polymorphisms (SNPs) are implicated in differences in predisposition to autoimmunity and steroid sensitivity. The aim of this study was to evaluate the frequency of the SNPs-rs6198, rs41423247 and rs17209237-in 72 IgA nephropathy (IgAN) and 38 membranous nephropathy (MN) patients compared to 175 healthy controls and to correlate the effectiveness of treatment in IgAN and MN groups defined as a reduction of proteinuria <1 g/24 h after 12 months of treatment. Real-time polymerase chain reactions and SNP array-based typing were used. We found significant rs41423247 association with MN ( = 0.026); a significant association of rs17209237 with eGFR reduction after follow-up period in all patients with GNs ( = 0.021) and with the degree of proteinuria after 1 year of therapy in all patients with a glomerulopathy ( = 0.013) and IgAN ( = 0.021); and in the same groups treated with steroids ( = 0.021; = 0.012). We also observed the association between rs41423247 and IgAN histopathologic findings ( = 0.012). In conclusion, our results indicate that polymorphisms may influence treatment susceptibility and clinical outcome in IgAN and MN.
肾小球疾病（GNs）约占慢性肾脏病的 20%。糖皮质激素受体基因（）单核苷酸多态性（SNPs）与自身免疫易感性和类固醇敏感性的差异有关。本研究旨在评估 72 例 IgA 肾病（IgAN）和 38 例膜性肾病（MN）患者中 rs6198、rs41423247 和 rs17209237 等 SNPs 的频率与 175 名健康对照者相比，并对 IgAN 和 MN 组的治疗效果进行相关性分析，定义为治疗 12 个月后蛋白尿减少<1g/24h。采用实时聚合酶链反应和 SNP 芯片分型技术。我们发现 rs41423247 与 MN 显著相关（=0.026）；rs17209237 与所有 GN 患者随访期间 eGFR 下降（=0.021）、所有肾小球疾病患者 1 年后蛋白尿下降（=0.013）和 IgAN 患者（=0.021）显著相关；在接受类固醇治疗的相同组中，与 eGFR 下降（=0.021；=0.012）和蛋白尿下降（=0.012）也显著相关。我们还观察到 rs41423247 与 IgAN 组织病理学发现之间的关联（=0.012）。总之，我们的结果表明，多态性可能影响 IgAN 和 MN 的治疗敏感性和临床结局。
