Y402H-Polymorphismus im Komplementfaktor H und altersabhängige Makuladegeneration (AMD)

Translated title of the contribution: Y402H polymorphism in complement factor H and age-related macula degeneration (AMD)

H. P.N. Scholl, B. H.F. Weber, M. M. Nöthen, T. Wienker, F. G. Holz

Research output: Contribution to journalArticle


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.

Original languageGerman
Pages (from-to)1029-1035
Number of pages7
Issue number11
StatePublished - Nov 1 2005



  • Age-related macular degeneration
  • Association studies
  • Complement factor H
  • Sequence variation

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Scholl, H. P. N., Weber, B. H. F., Nöthen, M. M., Wienker, T., & Holz, F. G. (2005). Y402H-Polymorphismus im Komplementfaktor H und altersabhängige Makuladegeneration (AMD). Ophthalmologe, 102(11), 1029-1035. https://doi.org/10.1007/s00347-005-1270-y