Variations in TIMP3 are associated with age-related macular degeneration.


Extracellular matrix (ECM) remodeling and degradation have been associated with atrophic changes in the retinal pigment epithelium (RPE) and Bruch’s membrane, leading to macular dystrophy. In the paper based on a genome-wide association study (GWAS), Chen et al. (1) discovered a single-nucleotide polymorphism (SNP) located ≈100 kb upstream of TIMP3 that… (More)
DOI: 10.1073/pnas.1007476107

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