Association of CFH Y402H and LOC387715 A69S With Progression of Age-Related Macular Degeneration

Abstract

Age-related macular degeneration (AMD) is associated with CFH gene polymorphisms, including Y402H on chromosome 1, and the LOC387715 variant A69S on chromosome 10.^1-9 Both forms of advanced AMD, geographic atrophy and neovascular disease, are related to these polymorphisms.^7,8 Several previous studies have found and confirmed cross-sectional associations between AMD and the CFH and LOC genes. However, to our knowledge, no study has examined the prospective relationships between these common polymorphisms and progression from early or intermediate stages of maculopathy to advanced forms of AMD associated with visual loss. Factors associated with prevalence may differ from those associated with progression or incidence of disease. We evaluated these associations among 1466 individuals in a large, national multicenter study of age-related eye disease, of whom 281 progressed to late stages of AMD, which are associated with visual impairment and legal blindness.