Advanced age-related macular degeneration (AMD) is the leading cause of late onset
blindness. We present results of a genome-wide association study of 979 advanced AMD
cases and 1,709 controls using the Affymetrix 6.0 platform with replication in seven
additional cohorts (totaling 5,789 unrelated cases and 4,234 unrelated controls). We also
present a comprehensive analysis of copy-number variations and polymorphisms for AMD.
Our discovery data implicated the association between AMD and a variant in the hepatic …

Age-related macular degeneration (AMD) is a leading cause of visual loss in Western
populations. Susceptibility is influenced by age, environmental and genetic factors. Known
genetic risk loci do not account for all the heritability. We therefore carried out a genome-
wide association study of AMD in the UK population with 893 cases of advanced AMD and
2199 controls. This showed an association with the well-established AMD risk loci ARMS2
(age-related maculopathy susceptibility 2)–HTRA1 (HtrA serine peptidase 1)(P= 2.7× 10 …