The Presence of Risk and Protective HLA-DQ Haplotype Combinations and PLA2R1 Risk SNP in Hungarian Patients with Membranous Nephropathy
With primary membranous nephropathy (pMN), the genetic background is not precisely known. Certain HLA-DQ serotypes however like HLA-DQ 2.5, and single-nucleotide polymorphisms (SNPs) in the phospholipase A2 receptor 1 (PLA2R1) gene pose a risk for the development of pMN. As antigen presentation is l...
Elmentve itt :
| Szerzők: | |
|---|---|
| Dokumentumtípus: | Cikk |
| Megjelent: |
2025
|
| Sorozat: | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
26 No. 17 |
| Tárgyszavak: | |
| doi: | 10.3390/ijms26178621 |
| mtmt: | 36333420 |
| Online Access: | http://publicatio.bibl.u-szeged.hu/37757 |
| Tartalmi kivonat: | With primary membranous nephropathy (pMN), the genetic background is not precisely known. Certain HLA-DQ serotypes however like HLA-DQ 2.5, and single-nucleotide polymorphisms (SNPs) in the phospholipase A2 receptor 1 (PLA2R1) gene pose a risk for the development of pMN. As antigen presentation is linked to a 3-dimensional conformation of the HLA-DQA/DQB dimer, we thought that the specific HLA-DQ haplotype combinations might also be risk factors in the evolution of MN. The HLA-DQ haplotype combinations and the PLA2R1 gene risk variant (rs4664308) genotypes were examined in 67 patients with MN (52 primary, 15 secondary [sMN]) and 77 controls. Based on the presence or absence of PLA2R1 risk alleles, we used a scoring system to assess the risk and to identify protective HLA-DQ haplotype combinations. The HLA-DQ 2.5 serotype was significantly enriched in both pMN and sMN patients compared to the controls. The pMN group had a significantly higher frequency of the PLA2R1 risk allele compared to the sMN group and the controls. HLA-DQ 2.5 appeared to carry the highest risk for the development of pMN, while HLA-DQ 7.5 and 6.2 seemed to be protective. Our results indicate that the HLA-DQ 2.5 probably carries the highest risk in both pMN and sMN, suggesting that this serotype has less specificity for antigens, and it induces an autoimmune response. Here, PLA2R1 played a role in the development of pMN but not in sMN. |
|---|---|
| Terjedelem/Fizikai jellemzők: | 12 |
| ISSN: | 1661-6596 |