Introduction: Membranoproliferative glomerulonephritis type II or dense deposit disease (MPGN II/DDD) causes chronic renal dysfunction that progresses to end stage renal disease in about half of patients within 10 years of diagnosis. Deficiency of and mutations in the complement factor H (CFH) gene are associated with the development of MPGN II/DDD, suggesting that dysregulation of the alternative pathway of the complement cascade is important in disease pathophysiology.
Subjects: Patients with MPGN II/DDD were studied to determine whether specific allele variants of CFH and CFHR5 segregate preferentially with the MPGN II/DDD disease phenotype. The control group was compromised of 131 people in whom age related macular degeneration had been excluded.
Results: Allele frequencies of four single nucleotide polymorphisms in CFH and three in CFHR5 were significantly different between MPGN II/DDD patients and controls.
Conclusion: 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.
- AMD, age related macular degeneration
- C3NeF, C3 nephritic factor
- C4BP, C4 binding protein
- CFH, complement factor H
- CFHL1, complement factor H-like protein 1
- CFI, complement factor I
- CR1, complement receptor 1
- DAF, decay accelerating factor
- DDD, dense deposit disease
- DHPLC, denaturing high performance liquid chromatography
- ESRD, end stage renal disease
- GBM, glomerular basement membrane
- LD, linkage disequilibrium
- MCP, membrane co-factor protein
- MPGN I/II/III, membranoproliferative glomerulonephritis types I/II/III
- SNP, single nucleotide polymorphism
- membranoproliferative glomerulonephritis type II
- dense deposit disease
- complement factor H
- complement factor H-related 5
- end-stage renal failure
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