COMPLEMENT GENE VARIANTS DETERMINE THE RISK OF IMMUNOGLOBULIN-ASSOCIATED MPGN AND C3 GLOMERULOPATHY AND PREDICT LONG-TERM RENAL OUTCOME
Membranoproliferative glomerulonephritis (MPGN) is an uncommon cause of chronic nephropathy recently reclassified into immunoglobulin-associated MPGN (Ig-MPGN) and C3 glomerulopathy (C3G). In this study we aimed: 1. to evaluate the complement genetic and biochemical profile in patients with Ig-MPGN/C3G; 2. to investigate whether genetic variants and different patterns of complement activation (i.e. fluid versus solid phase) correlate with disease manifestations and outcomes.
We combined the presence of mutations with the homozygous or heterozygous CD46 c.-366A allele for Ig-MPGN and with the homozygous CFH V62 and THBD A473 (susceptibility variants) for C3G (Fig.2).
For Ig-MPGN presence of mutations combined with the CD46 c.-366A allele significantly increased disease risk (OR=19.2, 95%CI 4.6-80.8).
For C3G disease risk was highest in subjects carrying mutations and 2 susceptibility variants (OR=23.9, 95%CI 4.0-143.2 ) and intermediate (OR=8.2, 95%CI 1.9-35.4) for subjects with mutations and 1 susceptibility variant.
The presence of mutations in the absence of risk SNP alleles did not affect risk of C3G or Ig-MPGN.
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