Haplotypes in the Complement Factor H (CFH) Gene: Associations with Drusen and Advanced Age-Related Macular Degeneration

• DOI: 10.1371/journal.pone.0001197
• Publication Date: 2007-11-27T17:36:22Z
• Authors: Peter J. Francis; Dennis W. Schultz; Sara Hamon; Jurg Ott; Richard G. Weleber; Michael L. Klein
• Keywords: Drusen; SNP

Age-related macular degeneration (AMD), the leading cause of blindness in Western world, is a complex disease that affects people over 50 years old. The complement factor H (CFH) gene has been repeatedly shown to be major determining susceptibility advanced form condition. We aimed better understand functional role this AMD process and assess whether it associated with earlier forms disease.WE genotyped SNPS at cfh locus three independent populations AMD: (a) extended families where least 3 family members had AMD; (b) sporadic cases (c) from Age-Related Eye Disease Study (AREDS). investigated polymorphisms haplotypes around CFH their AMD. early/intermediate both familial cases. In our populations, SNP, rs2274700, most strongly when incorporated into haplotype Y402H SNP rs1061147, strongest association observed (p<10(-9)).Our results, reproduced represent spectrum cases, provide evidence drusen as well also identified novel protective populations.