A rare variant in CFH directly links age-related macular degeneration with rare glomerular nephropathies |
| |
| Authors: | Wright Alan F |
| |
| Institution: | Medical Research Council Human Genetics Unit at the Institute of Genetics and Molecular Medicine, Edinburgh, UK. alan.wright@hgu.mrc.ac.uk |
| |
| 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. |
| |
| Keywords: | |
| 本文献已被 PubMed 等数据库收录！ |
|
