No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population

Purpose: The aim of this study was to determine whether genetic polymorphism of complement factor H (CFH) is associated with age-related macular degeneration (AMD) in the Japanese population. Methods: Genomic DNA was examined in a cohort of 67 Japanese patients with AMD and 107 controls. TT/TC/CC genotypes on exon 9 were screened for sequence alternation by polymerase chain reaction analysis and through sequencing. Results: The mean ages +/- SD of AMD patients and control subjects were 73 +/- 8.5 years and 72 +/- 8.7 years, respectively. There was no significant difference between CFH genotypes in the AMD group (TT, 76%; TC, 19%; CC, 5%) and the control group (TT, 80%; TC, 17%; CC, 3%). The frequencies of T and C alleles were 86% and 14%, respectively, in the AMD group and 89% and 11 %, respectively, in the control group. Conclusion: CFH gene polymorphism is not associated with AMD in the Japanese population. Moreover, the frequency of the C allele is low among the Japanese population.