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Published on: August 23, 2024
Genetic susceptibility to idiopathic membranous nephropathy in high-prevalence Area, Taiwan
Shih-Yin Chen1, Cheng-Hsu Chen2, Yu-Chuen Huang3
1Genetics Center, Department of Medical Research, China Medical University Hospital, Taichung, Taiwan ; Graduate Institute of Chinese Medical Science, China Medical University, Taichung, Taiwan ; Department of Biotechnology and Bioinformatics, Asia University, Taichung, Taiwan.
Abstract:
Idiopathic membranous nephropathy (MN) is one common cause of idiopathic nephrotic syndrome in adults; 25% of MN patients proceed to end-stage renal disease. In adults, membranous nephropathy is a lead cause of nephrotic syndrome, with about 75% of the cases idiopathic. Secondary causes include autoimmune disease, infection, drugs and malignancy. Three hypotheses about pathogenesis have surfaced: preformed immune complex, in situ immune complex formation, and auto-antibody against podocyte membrane antigen. Pathogenesis does involve immune complex formation with later deposition in sub-epithelial sites, but definite mechanism is still unknown. Several genes were recently proven associated with primary membranous nephropathy in Taiwan: IL-6, NPHS1, TLR-4, TLR-9, STAT4, and MYH9 . These may provide a useful tool for diagnosis and prognosis. This article reviews epidemiology and lends new information on KIRREL2 (rs443186 and rs447707) polymorphisms as underlying causes of MN; polymorphisms revealed by this study warrant further investigation.
Insights
Idiopathic membranous nephropathy (MN) is a kidney disease causing nephrotic syndrome. New research identifies KIRREL2 gene variations as potential causes, aiding diagnosis and prognosis.
Area of Science:
- Nephrology
- Genetics
- Immunology
Background:
- Idiopathic membranous nephropathy (MN) is a primary cause of nephrotic syndrome in adults.
- Approximately 75% of adult MN cases are idiopathic, with 25% progressing to end-stage renal disease.
- Pathogenesis involves immune complex deposition, but the exact mechanisms remain unclear.
Purpose of the Study:
- To review the epidemiology of idiopathic membranous nephropathy.
- To investigate the association of KIRREL2 gene polymorphisms (rs443186 and rs447707) with MN.
- To explore potential genetic factors for MN diagnosis and prognosis.
Main Methods:
- Literature review on MN epidemiology.
- Genetic analysis of KIRREL2 polymorphisms (rs443186 and rs447707) in MN patients.
- Comparison of findings with previously identified associated genes (IL-6, NPHS1, TLR-4, TLR-9, STAT4, MYH9).
Main Results:
- Identified KIRREL2 (rs443186 and rs447707) polymorphisms as potential underlying causes of MN.
- Highlighted the role of genetic factors in MN pathogenesis.
- Reinforced the association of other genes (IL-6, NPHS1, TLR-4, TLR-9, STAT4, MYH9) with primary MN.
Conclusions:
- KIRREL2 gene variations warrant further investigation as potential causes of idiopathic membranous nephropathy.
- Genetic polymorphisms may offer valuable tools for MN diagnosis and prognosis.
- Continued research into genetic associations is crucial for understanding MN.
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