Abstract: To investigate the association between Y402H, in the complement factor H gene (CFH) and neovascular agerelated macular degeneration (AMD). Methods100 patients with neovascular AMD and 100 age-matched healthy controls in the clinic of Qilu Hospital were enrolled in this study. Genomic DNA from whole blood was extracted. The Y402H polymorphism in CFH was determined by polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP). The Y402H polymorphism in CFH showed a substitution of T to C at nucleotide position 1277 in exon 9. The association between genetic polymorphism and disease was examined by χ² test and logistic regression. ResultsThe frequency of the risk allele 1277C was 14.0% in AMD patients compared with 5.0% in the controls (χ²=9.42，P<0.05)， mutational homozygote 1277CC in AMD cases was higher than that in the controls（χ²=9.08，P＜0.05）, and the difference between the two groups was statistically significant. ConclusionThe Y402H polymorphism in CFH is significantly associated with neovascular AMD and has an ethnic variation.

Key words: Complement factor H, Polymorphism(Genetics), Agerelated macular degeneration