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Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with

M A Abrera-Abeleda1, C Nishimura, J L H Smith

  • 1Department of Otolaryngology, Division of Nephrology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.

Journal of Medical Genetics
|November 22, 2005
PubMed

Insights

Genetic variations in complement factor H (CFH) and CFHR5 are linked to membranoproliferative glomerulonephritis type II (MPGN II/DDD). Further studies are needed to confirm if these CFH and CFHR5 allele variants directly cause MPGN II/DDD.

Area of Science:

  • Nephrology
  • Genetics
  • Immunology

Background:

  • Membranoproliferative glomerulonephritis type II (MPGN II/DDD) leads to chronic kidney disease and end-stage renal disease.
  • Deficiencies and mutations in the complement factor H (CFH) gene are linked to MPGN II/DDD, suggesting complement dysregulation in its development.

Purpose of the Study:

  • To investigate if specific allele variants of CFH and CFHR5 are preferentially associated with the MPGN II/DDD disease phenotype.
  • To explore the role of complement system dysregulation in MPGN II/DDD pathogenesis.

Main Methods:

  • Genotyping of CFH and CFHR5 single nucleotide polymorphisms (SNPs) in MPGN II/DDD patients.
  • Comparison of allele frequencies between 131 MPGN II/DDD patients and a control group without age-related macular degeneration.

Main Results:

  • Significant differences in allele frequencies were observed for four SNPs in CFH and three SNPs in CFHR5 between MPGN II/DDD patients and controls.
  • Specific allele variants of CFH and CFHR5 were identified as potentially associated with the MPGN II/DDD phenotype.

Conclusions:

  • The study identified specific allele variants of CFH and CFHR5 associated with MPGN II/DDD.
  • While these findings suggest a role for complement in MPGN II/DDD pathogenesis, functional studies are necessary to confirm the causal relationship.
  • The identified associations may or may not be directly related to the disease's pathophysiology.
Abstract

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