Pathogenic variants and risk haplotypes in aHUS pedigrees with 2 pathogenic variants (n = 23)
| . | Index cases (%) (n = 23) . | Non-carrier relatives (n = 23) . | Carrier relatives with 1 mutation (n = 46) . | Carrier relatives with 2 mutations (n = 17) . | Total affected carriers (%) (n = 28) . | P . | OR (95%CI) . | |||
|---|---|---|---|---|---|---|---|---|---|---|
| Affected (n = 0) . | Non-affected (%) (n = 23) . | Affected (n = 0) . | Non-affected (%) (n = 46) . | Affected (%) (n = 5) . | Non-affected (%) (n = 12) . | |||||
| CFH-H3 allele frequency | 13/46 (28.26) | 0 | 9/46 (19.57) | 0 | 20/92 (21.74) | 5/10 (50) | 8/24 (33.33) | 18/56 (32.14) | 1 | — |
| MCPggaac allele frequency | 24/46 (52.17) | 0 | 6/46 (13.04) | 0 | 35/92 (38.04) | 6/10 (60) | 4/24 (16.67) | 30/56 (53.57) | .0028 | 5.76 (1.74-19) |
| CFH-H3 only | 3/23 (13.04) | 0 | 5/23 (21,74) | 0 | 8/46 (17.39) | 0 | 5/12 (41.67) | 3/28 (10.71) | .038 | 0.16 (0.03-0.9) |
| MCPggaac only | 7/23 (30.43) | 0 | 1/23 (4.35) | 0 | 15/46 (32.61) | 0 | 3/12 (25) | 7/28 (25) | 1 | — |
| CFH-H3 + MCPggaac | 9/23 (39.13) | 0 | 3/23 (13.04) | 0 | 11/46 (23.91) | 5/5 (100) | 1/12 (8.33) | 14/28 (50) | .029 | 11 (1.24-97) |
| None | 4/23 (17,39) | 0 | 14/23 (60,87) | 0 | 12/46 (26.09) | 0 | 3/12 (25) | 4/28 (14.29) | .65 | — |
| . | Index cases (%) (n = 23) . | Non-carrier relatives (n = 23) . | Carrier relatives with 1 mutation (n = 46) . | Carrier relatives with 2 mutations (n = 17) . | Total affected carriers (%) (n = 28) . | P . | OR (95%CI) . | |||
|---|---|---|---|---|---|---|---|---|---|---|
| Affected (n = 0) . | Non-affected (%) (n = 23) . | Affected (n = 0) . | Non-affected (%) (n = 46) . | Affected (%) (n = 5) . | Non-affected (%) (n = 12) . | |||||
| CFH-H3 allele frequency | 13/46 (28.26) | 0 | 9/46 (19.57) | 0 | 20/92 (21.74) | 5/10 (50) | 8/24 (33.33) | 18/56 (32.14) | 1 | — |
| MCPggaac allele frequency | 24/46 (52.17) | 0 | 6/46 (13.04) | 0 | 35/92 (38.04) | 6/10 (60) | 4/24 (16.67) | 30/56 (53.57) | .0028 | 5.76 (1.74-19) |
| CFH-H3 only | 3/23 (13.04) | 0 | 5/23 (21,74) | 0 | 8/46 (17.39) | 0 | 5/12 (41.67) | 3/28 (10.71) | .038 | 0.16 (0.03-0.9) |
| MCPggaac only | 7/23 (30.43) | 0 | 1/23 (4.35) | 0 | 15/46 (32.61) | 0 | 3/12 (25) | 7/28 (25) | 1 | — |
| CFH-H3 + MCPggaac | 9/23 (39.13) | 0 | 3/23 (13.04) | 0 | 11/46 (23.91) | 5/5 (100) | 1/12 (8.33) | 14/28 (50) | .029 | 11 (1.24-97) |
| None | 4/23 (17,39) | 0 | 14/23 (60,87) | 0 | 12/46 (26.09) | 0 | 3/12 (25) | 4/28 (14.29) | .65 | — |