Molecular genetics of AMD and current animal models
- 13 March 2007
- journal article
- Published by Springer Nature in Angiogenesis
- Vol. 10 (2) , 119-132
- https://doi.org/10.1007/s10456-007-9064-2
Abstract
During the past few years systematic investigation into the epidemiology, genetics, and pathophysiology of age-related macular degeneration (AMD) has provided important new insight into this leading cause of vision loss in older persons. These studies provide a view of AMD as a complex trait influenced by well-established genetic and environmental risks that leads to the deposition of inflammatory deposits in the outer retina. This maculopathy leads to visual dysfunction through a variety of mechanisms and complications that can be observed in both humans and animal models. In this review, the risks associated with AMD in humans and the animal models used to study AMD and its complications will be summarized. No effort has been made to perform a comprehensive citation of all areas of AMD genetics and animal models, but rather a selection of observations and supporting references illustrative of the current state of the field is presented.Keywords
This publication has 102 references indexed in Scilit:
- Individuals homozygous for the age-related macular degeneration risk-conferring variant of complement factor H have elevated levels of CRP in the choroidProceedings of the National Academy of Sciences, 2006
- Complement activation by photooxidation products of A2E, a lipofuscin constituent of the retinal pigment epitheliumProceedings of the National Academy of Sciences, 2006
- CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degenerationNature Genetics, 2006
- Drusen, choroidal neovascularization, and retinal pigment epithelium dysfunction in SOD1-deficient mice: A model of age-related macular degenerationProceedings of the National Academy of Sciences, 2006
- Synergic effect of polymorphisms inERCC65′ flanking region andcomplement factor Hon age-related macular degeneration predispositionProceedings of the National Academy of Sciences, 2006
- A Prospective Assessment of the Y402H Variant in Complement Factor H, Genetic Variants in C-Reactive Protein, and Risk of Age-Related Macular DegenerationInvestigative Opthalmology & Visual Science, 2006
- Cigarette Smoking Strongly Modifies the Association of LOC387715 and Age-Related Macular DegenerationAmerican Journal of Human Genetics, 2006
- Genome-Wide Analyses Demonstrate Novel Loci That Predispose to Drusen FormationInvestigative Opthalmology & Visual Science, 2005
- Complement Factor H Polymorphism in Age-Related Macular DegenerationScience, 2005
- An animal model of age-related macular degeneration in senescent Ccl-2- or Ccr-2-deficient miceNature Medicine, 2003