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

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

Alan F Wright  1
Affiliations
Comment

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

Alan F Wright. Nat Genet. .

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.

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References

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