Levels of complement factor H-related 4 protein do not influence susceptibility to age-related macular degeneration or its course of progression.

ABSTRACT: Dysregulation of the alternative pathway (AP) of the complement system is a significant contributor to age-related macular degeneration (AMD), a primary cause of irreversible vision loss worldwide. Here, we assess the contribution of the liver-produced complement factor H-related 4 protein (FHR-4) to AMD initiation and course of progression. We show that FHR-4 variation in plasma and at the primary location of AMD-associated pathology, the retinal pigment epithelium/Bruch's membrane/choroid interface, is entirely explained by three independent quantitative trait loci (QTL). Using two distinct cohorts composed of a combined 14,965 controls and 20,741 cases, we ascertain that independent QTLs for FHR-4 are distinct from variants causally associated with AMD, and that FHR-4 variation is not i

SUBMITTER: Zouache MA 

PROVIDER: S-EPMC10781981 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature