Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking.

ABSTRACT:

Background

Age-related macular degeneration (AMD) is the major cause of blindness in the elderly. Those with the neovascular end-stage of disease have irreversible loss of central vision. AMD is a complex disorder in which genetic and environmental factors play a role. Polymorphisms in the complement factor H (CFH) gene, LOC387715, and the HTRA1 promoter are strongly associated with AMD. Smoking also contributes to the etiology. We aimed to provide a model of disease risk based on these factors.

Methods and findings

We genotyped polymorphisms in CFH and LOC387715/HTRA1 in a case-control study of 401 patients with neovascular AMD and 266 controls without signs of disease, and used the data to produce genetic risk scores for the European-descent population based on haplotypes

SUBMITTER: Hughes AE 

PROVIDER: S-EPMC2222948 | biostudies-literature | 2007 Dec

REPOSITORIES: biostudies-literature