Rare coding variants in complement factor 8 in families with age-related macular degeneration

Genome-wide association studies have uncovered 52 variants at 34 genetic loci influencing susceptibility to age related macular degeneration (AMD), and with a major contribution from complement genes. Here, we report the identification of rare variants in complement factors 8A and 8B by whole exome sequencing of a cohort of AMD families, suggesting a key role of terminal complement membrane attack complex in AMD pathogenesis.