期刊
BMC MEDICAL GENOMICS
卷 14, 期 1, 页码 -出版社
BMC
DOI: 10.1186/s12920-021-00969-0
关键词
Primary membranous nephropathy (PMN); M-type phospholipase A2 receptor (PLA2R); Human leukocyte antigen complex class II HLA-DQα -chain 1 (HLA-DQA1); Genotype; Renal outcome
资金
- University of Electronic Science and Technology of China Central University Research Fund [ZYGX2019J104]
- Science and Technology Project of Sichuan Province [2020YJ0447]
- National Natural Science Foundation of China [81970641]
- Renal Department and Institute of Nephrology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China
- Sichuan Clinical Research Center for Kidney Diseases
- National Heart Foundation
This study evaluated the association between SNPs in PLA2R and HLA-DQA1 genes and clinical manifestations and renal outcomes of PMN patients in a western Chinese cohort. Results suggest that one SNP may influence hypertension and renal outcome in PMN patients.
Background Both Genome-wide associations and our previous study have shown that single nucleotide polymorphisms (SNPs) of M-type phospholipase A2 receptor (PLA2R) and human leukocyte antigen complex class II HLA-DQ alpha-chain 1 (HLA-DQA1) gene were identified to be associated with primary membranous nephropathy (PMN). However, whether these SNPs affect clinical manifestation and renal outcome for PMN patients is poorly defined. Here, we evaluated whether there is an association between these SNPs and clinical manifestations and renal outcomes of PMN in a western Chinese cohort. Methods Seven SNPs within PLA2R and one SNP in HLA-DQA1 were selected in our study. Clinical data from 314 patients with PMN were collected and the relationship between the genotype and phenotype was evaluated. A total of 186 patients had follow-up data. We assessed the treatment responses and renal outcomes between patients with these gene polymorphisms after a median follow-up of 18.6 months. Results Eight SNPs were not associated with clinical manifestations of PMN patients (Pc < 0.05). rs3828323 T allele was marginally significantly associated with hypertension (P = 0.008, Pc = 0.064, OR = 1.821). After treatment for PMN, the SR group (including CR and PR) had lower serum creatinine level (68.4 +/- 18.8 mu mol/L vs. 122.8 +/- 126.6 mu mol/L, P < 0.001), urea (5.5 +/- 1.9 mmol/L vs. 8.0 +/- 4.0 mmol/L, P < 0.001), uric acid (358.5 +/- 95.1 mu mol/L vs. 392.8 +/- 118.1 mu mol/L, P = 0.037) and urinary protein (0.23 (0.76,1.05) g/d vs. 3.01 (2.06,7.95) g/d, P < 0.001), higher eGFR (100.0 +/- 20.1 ml/min/1.73m(2) vs. 77.1 +/- 35.3 ml/min/1.73m(2), P < 0.001) and albumin (41.1 +/- 5.1 g/L vs.30.4 +/- 8.2 g/L, P < 0.001). We also identified that PMN patients with CT/TT genotype for rs3828323 achieved higher cumulative survival rate than patients with CC genotype. Conclusions Rs3828323 may influence hypertension and renal outcome in patients with PMN. Further research is needed to explore the mechanism for this genotype-disease phenotype association.
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