Fig. 5: CFHR5fs is linked to increased activation capacities of the classical and alternative complement pathways.
From: Loss of CFHR5 function reduces the risk for age-related macular degeneration
a High-level sketch of the terminal pathway of the complement system on which the classical pathway (CP), MBL-lectin pathway (LP) and alternative pathway (AP) converge. b, c Functional analysis of CP, AP, and LP activation capacities in serum samples from 84 recall study participants (see Supplementary Data 18). b x axis reflects carrier status for CFHR5 frameshift variant p.Glu163insAA. C/C, non-carriers (n = 51); C/CAA, heterozygotes (n = 21); CAA/CAA, homozygotes (n = 12). c (x axis) reflects CFH haplotype status for recall study participants. Individuals with an AMD protective haplotype (2-2-0-0; n = 8) were compared to individuals who also carried one (2-2-0-1; n = 7) or two (2-2-0-2; n = 12) copies of CFHR5fs on this haplotype. Statistical analyses were performed with a two-sided Mann–Whitney U test. The Kruskal–Wallis test was applied for comparisons across all three groups. Each dot represents one individual. For each group, the center line represents the median, and the whiskers represent the standard deviation. arb. arbitrary units, Ns not significant. For details, see Supplementary Data 18.
