NR3C1 gene polymorphisms are associated with steroid resistance in patients with primary nephrotic syndrome.

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.