Population-based study of early age-related macular degeneration - Role of the complement factor HY402H polymorphism in bilateral but not unilateral disease

Objective: Recently, a strong association has been observed for the complement factor H (CFH) Tyr402His polymorphism with early and advanced age-related macular degeneration (AMD) in independent non-Hispanic White, clinic-based, case-control studies. These studies suggest the CFH His402 allele is a major risk allele in early and advanced AMD, explaining 43% to 70% of all AMD in older adults. We utilized a population-based study design of early AMD among Latinos/Hispanics to evaluate the CFH Tyr402His polymorphism for an association with early AMD phenotypes. Design: Retrospective population-based case-control study. Participants: This study cohort consists of 285 early AMD cases and 570 controls matched on age, birthplace, and smoking status. Methods: Genotype determination was performed by allele-specific digestion of polymerase chain reaction products. Main Outcome Measures: Complement factor H Tyr402His polymorphism. Results: We observed no overall statistically significant association with early AMD among Latinos. However, a subset of early AMD cases that have bilateral, not unilateral, intermediate-to-large soft macular drusen were 1.7 times more likely to carry either the homozygous or heterozygous His402 genotype. Conclusions: Our data suggest that the CFH Tyr402His is not a major risk factor for overall early AMD in this Latino population, but may play a role in susceptibility to phenotypes of early AMD likely to progress to late AMD.