The Pleiotropy of Complement Factor H

In 2005, complement factor H (CFH) emerged as a critical player in age-related macular degeneration (AMD) in one of the earliest genome-wide association studies (GWAS). Discovery in complex trait genetics has skyrocketed in the last 18 years since then, but this CFH discovery continues to stand out as one of the most important complex trait associations. Though the exact mechanism through which genetic variants in the region of CFH exert their effect is not fully understood, it likely involves dysregulation of the complement system leading to a state of chronic inflammation and maladaptive healing, slowly driving select tissues toward atrophy and disease. Interestingly, several of the same variants within CFH are significantly associated with and decrease risk of central serous chorioretinopathy (CSR), and associations have also been shown between genotypes at variants in this region and choroidal thickness in healthy individuals.
Source: JAMA Ophthalmology - Category: Opthalmology Source Type: research