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

Retina. 2006 Nov-Dec;26(9):985-7. doi: 10.1097/01.iae.0000244068.18520.3e.


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.

MeSH terms

  • Aged
  • Alleles
  • Asian People / genetics
  • Complement Factor H / genetics
  • DNA Mutational Analysis
  • Female
  • Genotype
  • Humans
  • Japan / ethnology
  • Macular Degeneration / genetics*
  • Male
  • Polymerase Chain Reaction
  • Polymorphism, Genetic


  • CFH protein, human
  • Complement Factor H