Allelic frequency of ΔCFHR1-CFHR3 in patients and controls
| . | n . | ΔCFHR1-CFHR3 . | OR (95% CI) . | Homozygotes ΔCFHR1-CFHR3 observed vs expected . | Hardly-Weinberg equilibrium . |
|---|---|---|---|---|---|
| Controls | |||||
| Aged 0-30 y | 135 | 24.1 | NS | 7 vs 8 | NS |
| Aged 30-60 y | 43 | 25.58 | NS | 2 vs 3 | NS |
| Aged older than 60 y | 92 | 24.72 | NS | 6 vs 6 | NS |
| Totals | 269 | 24.53 | NS | 15 vs 16 | NS |
| AMD patients | 141 | 9,6 | 0.29 (0.181-0.475)* | 2 vs 1 | NS |
| aHUS patients | 137 | 21.12† | NS | 14 vs 6‡ | 0.00015 |
| MPGN2 patients | 11 | 18 | NS | 0 vs 0 | NS |
| . | n . | ΔCFHR1-CFHR3 . | OR (95% CI) . | Homozygotes ΔCFHR1-CFHR3 observed vs expected . | Hardly-Weinberg equilibrium . |
|---|---|---|---|---|---|
| Controls | |||||
| Aged 0-30 y | 135 | 24.1 | NS | 7 vs 8 | NS |
| Aged 30-60 y | 43 | 25.58 | NS | 2 vs 3 | NS |
| Aged older than 60 y | 92 | 24.72 | NS | 6 vs 6 | NS |
| Totals | 269 | 24.53 | NS | 15 vs 16 | NS |
| AMD patients | 141 | 9,6 | 0.29 (0.181-0.475)* | 2 vs 1 | NS |
| aHUS patients | 137 | 21.12† | NS | 14 vs 6‡ | 0.00015 |
| MPGN2 patients | 11 | 18 | NS | 0 vs 0 | NS |
NS indicates not significant.
P < .001.
The ΔCFHR1-CFHR3 allele frequency is not increased in aHUS compared with controls (21.12 vs 24.53).
The frequency of ΔCFHR1-CFHR3 homozygotes in aHUS is significantly higher than that expected from the ΔCFHR1-CFHR3 allele frequency. There is also an increase in the frequency of ΔCFHR1-CFHR3 homozygotes in aHUS compared with controls (14 of 137 compared with 15 of 269), which does not reach statistical significance probably because of the size of our cohorts.