Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration
Johanna M. Seddon,
Dikha De,
William Casazza
et al.
Abstract:Introduction: Age-related macular degeneration (AMD) is the leading cause of central vision loss in the elderly. One-third of the genetic contribution to this disease remains unexplained.Methods: We analyzed targeted sequencing data from two independent cohorts (4,245 cases, 1,668 controls) which included genomic regions of known AMD loci in 49 genes.Results: At a false discovery rate of <0.01, we identified 11 low-frequency AMD variants (minor allele frequency <0.05). Two of those variants were … Show more
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