Polymorphisms in Complement Factor H and Hemicentin-1 genes in a Japanese population with dry-type age-related macular degeneration

Am J Ophthalmol. 2006 Dec;142(6):1074-6. doi: 10.1016/j.ajo.2006.07.030. Epub 2006 Aug 31.


Purpose: To determine whether polymorphisms in the Complement Factor H (CFH) gene and the Hemicentin-1 gene at the ARMD1 locus are associated with dry age-related macular degeneration (AMD) in Japanese patients.

Design: Clinically relevant laboratory investigation.

Methods: Eighty unrelated Japanese patients with dry AMD and 196 Japanese control patients were studied. Two exons of the CFH gene and four exons of the Hemicentin-1 gene were amplified by polymerase chain reaction and sequenced directly.

Results: For the CFH gene, the frequency of the previously reported Tyr402His variant was not significantly higher in the AMD group than in the control group (P = .31). In the Hemicentin-1 gene, three sequence alterations (Asp5088Val, IVS99-13C/T, and His5245Gln) were detected, and the originally reported Gln5346Arg was not detected.

Conclusion: The CFH gene and Hemicentin-1 genes do not appear to be involved in a statistically significant fraction of dry AMD cases in the Japanese population.

MeSH terms

  • Aged
  • Asian People / genetics
  • Complement Factor H / genetics
  • Exons / genetics
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Humans
  • Immunoglobulins
  • Japan / epidemiology
  • Macular Degeneration / genetics*
  • Male
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*


  • CFH protein, human
  • Extracellular Matrix Proteins
  • HMCN1 protein, human
  • Immunoglobulins
  • Complement Factor H