A rare variant in CFH directly links age-related macular degeneration with rare glomerular nephropathies

Nat Genet. 2011 Nov 28;43(12):1176-7. doi: 10.1038/ng.1012.

Abstract

A careful analysis of risk haplotypes in relation to age-related macular degeneration (AMD) susceptibility has led to the identification of a rare, high-penetrance variant in the complement factor H (CFH) gene that is also causally associated with atypical hemolytic uremic syndrome (aHUS) and related glomerulopathies. This finding provides a convincing causal mechanism linking the two diseases and develops a paradigm for the genetic architecture of a common and complex disease.

Publication types

  • Comment

MeSH terms

  • Complement Factor H / genetics
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Macular Degeneration / genetics*
  • Male
  • Penetrance*

Substances

  • CFH protein, human
  • Complement Factor H