Pathogenic variants and risk haplotypes in aHUS pedigrees with a single pathogenic variant (n = 80)
| . | Index cases (n = 80) . | Non-carrier relatives (n = 152) . | Carrier relatives (n = 134) . | Total affected carriers (%) (n = 90) . | P . | OR (95%CI) . | ||
|---|---|---|---|---|---|---|---|---|
| Affected (n = 0) . | Non-affected (%) (n = 142) . | Affected (%) (n = 10) . | Non-affected (%) (n = 116) . | |||||
| CFH-H3 allele frequency | 76/160 (47.50) | 0 | 80/284 (28.17) | 6/20 (30) | 63/232 (27.16) | 82/180 (45.56) | .00011 | 2.24 (1.48-3.39) |
| MCPggaac allele frequency | 70/160 (44.38) | 0 | 93/284 (32.75) | 11/20 (55) | 76/232 (32.76) | 82/180 (45.56) | .010 | 1.71 (1.14-2.57) |
| CFH-H3 only | 22/80 (27.50) | 0 | 30/142 (21.13) | 0 | 19/116 (16.38) | 22/90 (24.72) | .162 | 0 |
| MCPggaac only | 13/80 (16.25) | 0 | 47/142 (33.10) | 4/10 (40) | 28/116 (24.14) | 17/90 (17.97) | .399 | 0 |
| CFH-H3 + MCPggaac | 37/80 (46.25) | 0 | 36/142 (25.35) | 6/10 (60) | 33/116 (28.45) | 43/90 (48.31) | .0056 | 2.3 (1.29-4.10) |
| None | 8/80 (10) | 0 | 29/142 (20.42) | 0 | 36/116 (31.03) | 8/90 (8.98) | .00012 | 0.21 (0.1-0.50) |
| . | Index cases (n = 80) . | Non-carrier relatives (n = 152) . | Carrier relatives (n = 134) . | Total affected carriers (%) (n = 90) . | P . | OR (95%CI) . | ||
|---|---|---|---|---|---|---|---|---|
| Affected (n = 0) . | Non-affected (%) (n = 142) . | Affected (%) (n = 10) . | Non-affected (%) (n = 116) . | |||||
| CFH-H3 allele frequency | 76/160 (47.50) | 0 | 80/284 (28.17) | 6/20 (30) | 63/232 (27.16) | 82/180 (45.56) | .00011 | 2.24 (1.48-3.39) |
| MCPggaac allele frequency | 70/160 (44.38) | 0 | 93/284 (32.75) | 11/20 (55) | 76/232 (32.76) | 82/180 (45.56) | .010 | 1.71 (1.14-2.57) |
| CFH-H3 only | 22/80 (27.50) | 0 | 30/142 (21.13) | 0 | 19/116 (16.38) | 22/90 (24.72) | .162 | 0 |
| MCPggaac only | 13/80 (16.25) | 0 | 47/142 (33.10) | 4/10 (40) | 28/116 (24.14) | 17/90 (17.97) | .399 | 0 |
| CFH-H3 + MCPggaac | 37/80 (46.25) | 0 | 36/142 (25.35) | 6/10 (60) | 33/116 (28.45) | 43/90 (48.31) | .0056 | 2.3 (1.29-4.10) |
| None | 8/80 (10) | 0 | 29/142 (20.42) | 0 | 36/116 (31.03) | 8/90 (8.98) | .00012 | 0.21 (0.1-0.50) |
CI, confidence interval; OR, odds ratio.