Numbers and frequency of nonsynonymous polymorphisms in the coding areas of 12 complement and coagulation related genes
| HGNC symbol . | Variant effects . | No. of nonsynonymous polymorphisms . | Patients, % (n) . |
|---|---|---|---|
| Complement-dependent genes | |||
| C3 | Gain of complement activation | 7 | 15 (6) |
| C3AR1 | Gain of complement activation? | 3 | 7.5 (3) |
| C5 | Loss of complement activation with a propensity for severe recurrent infection; also linked to a susceptibility to liver fibrosis and to rheumatoid arthritis | 14 | 87.5 (35) |
| CFHR5 | Loss of complement regulation | 9 | 27.5 (11) |
| CFH | Loss of complement regulation | 13 | 97.5 (39) |
| CFI | Loss of complement regulation | 5 | 100 (40) |
| MCP | Loss of complement regulation | 2 | 2.5 (1) |
| Complement-independent genes | |||
| ADAMTS13 | Deficiency associated with TTP | 15 | 80 (32) |
| PLG | Reduced fibrinolytic activity | 9 | 57.5 (23) |
| INF2 | Unknown; associated with FSGS and nephrotic syndrome | 5 | 17.5 (7) |
| THBD | Possibly loss of complement regulation (reduced cofactor activity) and procoagulant state (diminished activation of TFPI) | 2 | 22.5 (9) |
| DGKE | Upregulation of prothrombotic factors and downregulation of VEGFR2 signaling | 2 | 7.5 (3) |
| HGNC symbol . | Variant effects . | No. of nonsynonymous polymorphisms . | Patients, % (n) . |
|---|---|---|---|
| Complement-dependent genes | |||
| C3 | Gain of complement activation | 7 | 15 (6) |
| C3AR1 | Gain of complement activation? | 3 | 7.5 (3) |
| C5 | Loss of complement activation with a propensity for severe recurrent infection; also linked to a susceptibility to liver fibrosis and to rheumatoid arthritis | 14 | 87.5 (35) |
| CFHR5 | Loss of complement regulation | 9 | 27.5 (11) |
| CFH | Loss of complement regulation | 13 | 97.5 (39) |
| CFI | Loss of complement regulation | 5 | 100 (40) |
| MCP | Loss of complement regulation | 2 | 2.5 (1) |
| Complement-independent genes | |||
| ADAMTS13 | Deficiency associated with TTP | 15 | 80 (32) |
| PLG | Reduced fibrinolytic activity | 9 | 57.5 (23) |
| INF2 | Unknown; associated with FSGS and nephrotic syndrome | 5 | 17.5 (7) |
| THBD | Possibly loss of complement regulation (reduced cofactor activity) and procoagulant state (diminished activation of TFPI) | 2 | 22.5 (9) |
| DGKE | Upregulation of prothrombotic factors and downregulation of VEGFR2 signaling | 2 | 7.5 (3) |
FSGS, focal segmental glomerulosclerosis; TFPI, tissue factor pathway inhibitor; VEGFR2, vascular endothelial growth factor receptor 2.