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Abstract: PO1594

NR3C1 Polymorphisms in Membranous and IgA Nephropathies

Session Information

Category: Glomerular Diseases

  • 1203 Glomerular Diseases: Clinical, Outcomes, and Trials

Authors

  • Pac, Micha?, Department of Immunology, Transplantology and Internal Diseases, Medical University of Warsaw, Warsaw, Poland
  • Krata, Natalia, Department of Immunology, Transplantology and Internal Diseases, Medical University of Warsaw, Warsaw, Poland
  • Kaleta, Beata, Department of Clinical Immunology, Medical University of Warsaw, Warsaw, Poland
  • Moszczuk, Barbara, Department of Immunology, Transplantology and Internal Diseases, Medical University of Warsaw, Warsaw, Poland
  • Wyczalkowska-Tomasik, Aleksandra, Department of Immunology, Transplantology and Internal Diseases, Medical University of Warsaw, Warsaw, Poland
  • Prystupa, Julia, Department of Immunology, Transplantology and Internal Diseases, Medical University of Warsaw, Warsaw, Poland
  • Kiryluk, Krzysztof, Department of Medicine, Columbia University, College of Physicians and Surgeons, New York, New York, United States
  • Mucha, Krzysztof, Department of Immunology, Transplantology and Internal Diseases, Medical University of Warsaw, Warsaw, Poland
Background

In other diseases (ex. asthma and pemphigus vulgaris) NR3C1 single nucleotide polymorphisms (SNPs) were associated with glucocorticoid (GC) treatment outcomes. The aim of the study was evaluation of the frequency of NR3C1 (SNPs) in adult membranous (MN) and IgA (IgAN) nephropathies biopsy proven patients.

Methods

We analyzed NR3C1 SNPs: rs6198, rs41423247 and rs17209237 in 39 MN patients (mean age 42,9±14,22 y.; 14 ♀), 39 sex- and age-matched and 35-unmatched IgAN patients (mean age 33,5±12,3 y.; 34 ♀) and 39 sex- and age-matched and 136-unmatched healthy controls (mean age 48,7±17,9 years; 89 ♀) using RT-PCR and GWAS methods. The results were tested for Hardy-Weinberg equilibrium (control group; p>0,05) and compared between MN, IgAN and controls and within MN and IgAN between GC-resistant and -sensitive and GC-dependent and -independent groups using the χ2 with Yate’s correction test.

Results

The frequency of the minor C allele of rs6198 SNP was significantly increased in MN (p<0,05) and IgAN (p<0,05) compared to controls; and in GC-resistant MN (p<0,05), GC-resistant (p<0,05) and GC-dependent (p<0,05) IgAN. The rs6198 SNP genotypes were unequally distributed among GC-resistant MN (p<0,05), GC-resistant (p<0,05) and GC-dependent (p<0,05) IgAN. The frequency of the major A allele of rs17209237 was significantly increased in GC-sensitive (p<0,05) and -independent (p<0,05) IgAN. There was a disequilibrium in rs17209237 SNP distribution among GC-sensitive IgAN (p<0,05). The minor C allele was significantly more frequent among MN (p<0,05) and IgAN (p<0,05) relapse patients and there was rs6198 genotypes distribution inequality for these both groups (p<0,05; p<0,05).

Conclusion

Rs6198 and rs17209237 alleles and genotypes have different distribution between MN and IgAN and controls; and between patients differently responding to the GC treatment. Results indicate that they predict GC treatment outcomes and therefore should be further investigated for their potential prognostic value.