Association of complement factor H Y402H gene polymorphism with different subtypes of exudative age-related macular degeneration.

Objective Exudative age-related macular degeneration (AMD) is a common cause for a severe central visual loss. The complement system has been implicated in the pathogenesis of drusen. Recently, a complement factor H (CFH) polymorphism, which is characterized by a tyrosine (Y)-to-histidine (H) exchange at position 402 of the CFH gene, has been suggested as a major risk factor for AMD in a North American population. The aim of the present study was to investigate a hypothesized association between the CFH Y402H polymorphism and the presence of exudative AMD in a Central European population of Caucasoid descent as well as to determine the genotype distribution among different types of exudative AMD. Design Retrospective case–control study. Participants The study cohort consisted of 179 patients with exudative AMD and 163 controls. Methods Determination of genotypes was carried out by allele-specific digestion of polymerase chain reaction products. Main Outcome Measures Genotypes of CFH Y402H polymorphism. Results The prevalence of the CFH 402HH genotype was significantly higher in patients with exudative AMD than among controls (35.2% vs. 8.6%; P Conclusion Our data suggest that the CFH Y402H polymorphism is a major risk factor for exudative AMD in a Central European population.