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. 2021 Sep 11;31(3):455–470. doi: 10.1093/hmg/ddab256

Figure 2.

Figure 2

FH and C3bBbP plasma levels in CFH rare and low-frequency variant carriers. (A, C) FH and (B, D) ln(C3bBbP) plasma levels are shown in non-carrier controls, non-carrier AMD cases and CFH low-frequency variant carriers. Dotted lines indicate the mean ± 2 SD, in (A, C) 363.7 μg/ml ± 2*68.5 μg/ml FH and in (B, D) 2.47 ln(CAU/ml) ± 0.30 ln(CAU/ml) C3bBbP. Mean and SD are shown by error bars. (A, B) Missense variants are sorted based on CADD score with CADD = 20 as cut-off. Variant groups were compared with non-carrier controls using ordinary one-way ANOVA and Dunnett’s multiple comparison test, and significant P-values are indicated with *<0.05, **<0.01, ***<0.001 and ****<0.0001. Variants leading to significantly increased ln(C3bBbP) levels are indicated in orange in (A) and variants leading to significantly decreased FH levels are indicated in orange in (B). (C) FH and (D) C3bBbP plasma levels are shown for all individuals grouped based on presence of missense variants with a CADD score <20, missense variants with a CADD score ≥20, nonsense/frameshift variants or presence of multiple low-frequency variants and compared to non-carrier cases and non-carrier controls using ordinary one-way ANOVA with Sidak’s multiple comparison test, significant P-values are indicated with *<0.05, **<0.01, ***<0.001 and ****<0.0001.