Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.

ABSTRACT: Age-related macular degeneration (AMD) is a major cause of vision loss among the elderly in the Western world. Genetic variants in the complement factor H (CFH) gene are associated with AMD, but the functional consequences of many of these variants are currently unknown. In this study, we aimed to determine the effect of 64 rare and low-frequency variants in the CFH gene on systemic levels of factor H (FH) and complement activation marker C3bBbP using plasma samples of 252 carriers and 159 non-carriers. Individuals carrying a heterozygous nonsense, frameshift or missense variant in CFH presented with significantly decreased FH levels and significantly increased C3bBbP levels in plasma compared to non-carrier controls. FH and C3bBbP plasma levels were relatively stable over time in samples

SUBMITTER: de Jong S 

PROVIDER: S-EPMC8825240 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature