Figure 4.

Low-frequency and rare variants in CFHR genes and age-related macular degeneration

(A) Schematic representation of FH, FHR-2, and FHR-5, including variants analyzed in the gene-based test with a PHRED-CADD score > 10 (red asterisk), those with an AMD association independent of previously reported GWAS signals (p value < 0.05; blue asterisk), and those with an identified effect on protein concentrations (yellow asterisk). Variants that meet two or more criteria are highlighted in bold.

(B) Distribution of total FHR-2 serum concentrations in individuals carrying low-frequency CFHR2 variants included in the gene-based test

(C) Distribution of FHR-5 serum concentrations in individuals carrying low-frequency CFHR5 variants included in the gene-based test.

Shown p values are unadjusted (see Table 4 for FDR-adjusted p values). The median value is depicted in each group.