Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration.

ABSTRACT:

Background

Age-related macular degeneration (AMD), the leading cause of blindness in the 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 a major factor in determining susceptibility to the advanced form of the condition. We aimed to better understand the functional role of this gene in the AMD disease process and assess whether it is associated with earlier forms of the disease.

Methodology/principal findings

WE genotyped SNPS at the cfh gene locus in three independent populations with AMD: (a) extended families where at least 3 family members had AMD; (b) sporadic cases of advanced AMD and (c) cases from the Age-Related Eye Disease Study (AREDS). We investigated polymorphisms and h

SUBMITTER: Francis PJ 

PROVIDER: S-EPMC2077927 | biostudies-literature | 2007 Nov

REPOSITORIES: biostudies-literature