Polymorphisms of Complement Factor Genes and Age-Related Macular Degeneration in a German Population

Background: An association of the Tyr402His variant of the complement factor H (CFH) gene with age-related macular degeneration (AMD) has been shown in several Caucasian populations, while studies for an association with other single nucleotide polymorphisms (SNP) of complement system genes have produced inconsistent results. We examined the distribution of several SNPs of complement system genes (CFH, C2, C3, factor B) in patients with exsudative AMD and healthy controls. Patients/Materials and Methods: 226 patients with exsudative AMD and 179 controls without AMD were included. Genomic DNA was extracted from saliva samples. Results: A significant association with exsudative AMD was found only for SNP rs1061170 (Y402H) in the CFH gene. For rs1047286 (P292L) and rs2230199 (R102G) in the C3 gene, rs547154 (1VS10) and rs9332739 (E318D) in the C2 gene and rs4151667 (L9H) in CFB gene, no associations with exsudative AMD were found. Conclusions: We have replicated an association of the Y402H variant with exsudative AMD in our population. Although variants R 102G, IVS10, E318D and L9H have been shown to be associated with AMD in earlier studies, we could not confirm these findings. The results show that AMD has variable association patterns with rare variants in different populations.