Table 2.
Gene-based association results of rare variants.
| Region | Variants group | No. of variants | Cases (n = 1,917) | Controls (n = 1,652) | Value of p |
|---|---|---|---|---|---|
| NOTCH3 | All | 207 | 300 (15.7%) | 292 (17.7%) | 0.804 |
| Synonymous | 83 | 122 (6.4%) | 112 (6.8%) | 0.813 | |
| Missense | 122 | 177 (9.2%) | 179 (10.8%) | 0.599 | |
| LoF | 2 | 1 (0.1%) | 1 (0.1%) | 0.632 | |
| Dmis | 40 | 65 (3.4%) | 72 (4.4%) | 0.716 | |
| LoF + Dmis | 42 | 66 (3.4%) | 73 (4.4%) | 0.731 | |
| Previously reporteda | 4 | 11 (0.6%) | 8 (0.5%) | 0.669 | |
| EGFr | All | 102 | 139 (7.3%) | 131 (7.9%) | 1 |
| Synonymous | 33 | 24 (1.3%) | 31 (1.9%) | 0.831 | |
| Missense | 69 | 115 (6.0%) | 100 (6.0%) | 1 | |
| Dmis | 24 | 43 (2.2%) | 38 (2.3%) | 1 |
LoF, loss-of-function; Dmis, damaging missense (ReVe > 0.7).
a
Variants previously reported to be associated with CADASIL.