C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes.

ABSTRACT:

Background

Age-related maculopathy (ARM) is a common cause of visual impairment in the elderly populations of industrialized countries and significantly affects the quality of life of those suffering from the disease. Variants within two genes, the complement factor H (CFH) and the poorly characterized LOC387715 (ARMS2), are widely recognized as ARM risk factors. CFH is important in regulation of the alternative complement pathway suggesting this pathway is involved in ARM pathogenesis. Two other complement pathway genes, the closely linked complement component receptor (C2) and complement factor B (CFB), were recently shown to harbor variants associated with ARM.

Methods/principal findings

We investigated two SNPs in C2 and two in CFB in independent case-control and family

SUBMITTER: Jakobsdottir J 

PROVIDER: S-EPMC2374901 | biostudies-literature | 2008 May

REPOSITORIES: biostudies-literature