Purpose: The purpose of this study was to analyze the association between the Y402H polymorphism in the complement factor H and soft drusen of the macula as part of age-related maculopathy in the Chinese population.
Methods: In the population-based Beijing Eye Study, the participants underwent a detailed ophthalmic examination including fundus photography. All fundus photographs were graded using the Wisconsin Grading System. Of 515 subjects with soft drusen in the macula, 208 (40.4%) subjects had blood samples taken and were thus eligible for the present study. These subjects were compared with 140 randomly selected control subjects from the Beijing Eye Study matched for age, sex, and rural versus urban area with the study group. The analysis of the genotype was performed by allele-specific digestion of polymerase chain reaction products.
Results: Dividing the study group into subjects with bilateral soft drusen and unilateral soft drusen showed a significant association between the Y402H polymorphism in the complement factor H gene and the study group with bilateral soft drusen with an odds ratio of 2.29 (95% confidence interval, 1.06-4.95).
Conclusion: Also in the Chinese population, soft drusen as part of age-related maculopathy are associated with the Y402H polymorphism in the complement factor H gene despite a markedly lower frequency of C allele in the Chinese population than in white populations.