Clinical, genetic and molecular aspects of membranous nephropathy

摘要: Membranous Nephropathy (MN) is one of the leading causes end-stage renal disease (ESRD). MN an autoimmune disease in which autoantibodies target antigens at level glomerular basement membrane. The nature these antibodies and reason why they develop are not fully understood. One strategies towards a better understanding disorder genetic analysis, two approaches have been attempted: linkage mapping, based on family suggestive for X-linked transmission trait; whole genome association based on three case-control cohorts. first cohort (335 cases ethnically matched controls from UK) was genotyped using SNP markers analysed exploratory study led to the identification highly significant loci association. Two cohorts (146 biopsy proven Dutch research group Nijmegen 75 biopsy matched controls French research Paris) were used successfully replicate results. The we identified independently confirmed located on chromosome 2 chromosome 6. The locus includes PLA2R gene, confirming hypothesis of Beck et al. as key antigen idiopathic by using an immunological approach [1]. The 6 lies within extended Human Leukocyte Antigene (HLA) system locus, with highest significance reached by alleles HLA-DQA1. Our results suggest that susceptibility membranous nephropathy is associated genetic variants both PLA2R1 HLA loci. The causative could be some polymorphisms captured the genotyping array or, more likely (single nucleotide or copy number variant type) situated nearby (and therefore linkage disequilibrium).