Figure 3.

VUS/likely pathogenic/pathogenic variants distributed unevenly across genes and gene groups in TMA and C3G patients. (A) Variant load in CFH, CFI, and C3 was high for both patients with TMA and C3G. (B) Variants accumulated in C3 convertase genes (C3 and CFB) in patients with C3G and in AP regulator genes (CFH, CFI, CD46, and CFHR5) in patients with TMA. (C) Patients with C3G and TMA were more likely to carry single rare/novel variants than control samples retrieved from 1000 Genomes Project (1000Gs). (D) More patients with C3G and TMA carried VUS/likely pathogenic/pathogenic variants than did patients with untargeted diseases (see Table 2). (Fisher’s exact test was used to compare intergroup differences).