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

Nature Genetics volume 43, pages 1176–1177 (2011)Cite this article

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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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  1. Alan F. Wright is at the Medical Research Council Human Genetics Unit at the Institute of Genetics and Molecular Medicine, Edinburgh, UK.,

    Alan F. Wright

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  1. Alan F. Wright
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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). https://doi.org/10.1038/ng.1012

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