Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.

ABSTRACT: Age-related macular degeneration (AMD) is the principal cause of blindness in the elderly population. A strong effect on AMD risk has been reported for genetic variants at the CFH locus, encompassing complement factor H (CFH) and the complement-factor-H-related (CFHR) genes, but the underlying mechanisms are not fully understood. We aimed to dissect the role of factor H (FH) and FH-related (FHR) proteins in AMD in a cohort of 202 controls and 216 individuals with AMD. We detected elevated systemic levels of FHR-1 (p = 1.84 × 10^-6), FHR-2 (p = 1.47 × 10^-4), FHR-3 (p = 1.05 × 10^-5) and FHR-4A (p = 1.22 × 10^-2) in AMD, whereas FH concentrations remained unchanged. Common AMD genetic variants and haplotypes at the CFH locus strongly associated with F

SUBMITTER: Lores-Motta L 

PROVIDER: S-EPMC8387287 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature