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

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.

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Figure 1: Schematic showing the modular structure of the CFH protein containing 20 CCP domains with diverse but sometimes overlapping functions.


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Correspondence to Alan F. Wright.

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Wright, A. A rare variant in CFH directly links age-related macular degeneration with rare glomerular nephropathies. Nat Genet 43, 1176–1177 (2011).

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