Genetics of age-related macular degeneration

Age related macular degeneration (AMD) is the main cause of blindness after age 55 in western countries. These last past years, several lines of evidence such as familial aggregation or twin studies suggested a genetic component in AMD. However, the late onset of the disease and the fact that AMD is a polygenic and multifactorial disease are the main limiting factors for linkage studies. Gene candidate strategy allowed the exclusion of several genes (VMD2, RDS, TIMP3) and lead to the implication of two genetic factors: the apoE (involved in the transport of lipids) gene and the ABCA4 gene (involved in Stargardt macular dystrophy). Sib pair analysis allowed identification of several loci. Subsequently, SNPs analysis leaded to a positive association between the Tyr402His polymorphism of the CFH gene, the Ala69Ser polymorphism of the LOC387715 locus and AMD.