Fig 1: Conservation of C8 variants and carrier frequency(A) Sequence chromatograms of C8A and C8B variants from affected (carriers) and healthy individuals. The position of the variant is highlighted by a light blue rectangle and sequence is indicated under each chromatogram.(B) Protein level conservation of residues in C8 subunits. Location of the variants is indicated by a red rectangle.(C) Carrier frequencies of C8 variants in AMD affected individuals from the AREDS 1 & 2 cohorts compared to publicly available carrier frequencies in the general population. P-values are indicated for each variant.
Fig 2: Rare C8 variants segregate in familial AMD casesPedigree structures of four AMD families, with symbols indicating sex and disease phenotype, and genotypes of rare C8A or C8B variants as well as two common large effect AMD risk alleles noted below each symbol (see keys at bottom of the figure). To the right of each pedigree, fundoscopy images of select individuals with advanced AMD are shown. aAMD - advanced age-related macular degeneration; GA - geographic atrophy; nAMD-neovascular age-related macular degeneration.
Supplier Page from Abcam for Anti-Complement C8 antibody [EPR23646-22]