[Y402H polymorphism in complement factor H and age-related macula degeneration (AMD)]

Ophthalmologe. 2005 Nov;102(11):1029-35. doi: 10.1007/s00347-005-1270-y.
[Article in German]

Abstract

Age-related macular degeneration is a complex genetic disorder. Recent data suggest that the additive genetic risk for late-stage disease is more than two-thirds. Comprehensive genetic studies (candidate gene approaches, linkage and association studies) have been performed in recent years to identity the genetic risk factors at the molecular lavel. Very recently, a significant risk allele, Y402H, has been discovered in the complement factor H (CFH) gene. The relative risk of developing AMD has been estimated between 2.4-4.6 for heterozygotes and 3.3-7.4 for homozygotes. This polymorphism accounts for approximately 20-50% of the overall risk of developing AMD. In this review the results from molecular genetic studies in AMD are summarized, with a special emphasis on the recent data obtained for the CFH gene.

Publication types

  • Review

MeSH terms

  • Aryl Hydrocarbon Hydroxylases / genetics*
  • Complement Factor H / genetics
  • DNA Mutational Analysis / methods
  • France / epidemiology
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Testing / methods
  • Humans
  • Incidence
  • Macular Degeneration / blood*
  • Macular Degeneration / epidemiology*
  • Macular Degeneration / genetics
  • Polymorphism, Genetic
  • Risk Assessment / methods*
  • Risk Factors

Substances

  • CFH protein, human
  • Complement Factor H
  • Aryl Hydrocarbon Hydroxylases
  • CYP2A13 protein, human