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June 2013

Coding Variants in ARMS2 and the Risk of Age-Related Macular Degeneration

Author Affiliations

Author Affiliations: John P. Hussman Institute for Human Genomics, Department of Human Genetics, Dr John T. Macdonald Foundation, University of Miami Miller School of Medicine, Miami, Florida.

JAMA Ophthalmol. 2013;131(6):804-805. doi:10.1001/jamaophthalmol.2013.589

Genetic variation at the chromosome 10q26 locus is strongly associated with the risk of age-related macular degeneration (AMD). Recently, the common coding variant rs2736911 (R38X) in the age-related maculopathy susceptibility 2 gene (ARMS2; GenBank NG_011725) was inversely associated with AMD.1 The R38X variant introduces a premature stop codon that likely leads to a truncated ARMS2 protein at a lower expression level due to nonsense-mediated decay.2 It remains unclear how the missense change A69S increases the risk of AMD, while the truncated R38X is protective. To understand the association of R38X with AMD, we examined 3 ARMS2 common coding variants, R38X, A69S, and rs10490923 (R3H), as well as the HTRA1 promoter variant rs11200638 in a large case-control data set.