title: A rare variant in CFH directly links age-related macular degeneration with rare glomerular nephropathies.
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.
authors: Medical Research Council Human Genetics Unit at the Institute of Genetics and Molecular Medicine, Edinburgh, UK. alan.wright@hgu.mrc.ac.uk
authors: Alan F
authors: AF
authors: Wright
mesh_terms: D017242:Complement Factor H / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D019683:Penetrance
chemical_list: C493495:CFH protein, human; D017242:Complement Factor H