Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (<i>CFHR5</i>) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease)

Abstract

We have identified specific allele variants of CFH and CFHR5 associated with the MPGN II/DDD disease phenotype. While our data can be interpreted to further implicate complement in the pathogenesis of MPGN II/DDD, these associations could also be unrelated to disease pathophysiology. Functional studies are required to resolve this question.