Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration.

ABSTRACT:

Purpose

Age-related macular degeneration (AMD) has a substantial genetic risk component, as evidenced by the risk from common genetic variants uncovered in the first genome-wide association studies. More recently, it has become apparent that rare genetic variants also play an independent role in AMD risk. We sought to determine if rare variants in complement factor H (CFH) played a role in AMD risk.

Methods

We had previously collected DNA from a large population of patients with advanced age-related macular degeneration (A-AMD) and controls for targeted deep sequencing of candidate AMD risk genes. In this analysis, we tested for an increased burden of rare variants in CFH in 1665 cases and 752 controls from this cohort.

Results

We identified 65 missense, nonsense, or

SUBMITTER: Triebwasser MP 

PROVIDER: S-EPMC4627248 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature