Table 3.
Association between the Presence of Inactivating Mutations in NPC1L1 and the Risk of Coronary Heart Disease (CHD).
| Inactivating Mutation | Mutation Carriers | Total Participants | Carrier Frequency | |||
|---|---|---|---|---|---|---|
| With CHD |
Without CHD |
With CHD |
Without CHD |
Participants with CHD |
Participants without CHD |
|
| number | percent | |||||
| All mutations* | 11 | 71 | 29,954 | 83,140 | 0.04 | 0.09 |
| p.L71RfsX50 | 0 | 2 | 709 | 4,378 | 0 | 0.05 |
| p.Q167X | 0 | 1 | 966 | 987 | 0 | 0.10 |
| p.A296VfsX57 | 0 | 3 | 1,794 | 1,745 | 0 | 0.17 |
| p.R406X | 6 | 49 | 26,507 | 75,654 | 0.02 | 0.06 |
| p.Y483X | 0 | 1 | 844 | 1,107 | 0 | 0.09 |
| c.1681+1G→A† | 0 | 3 | 709 | 4,378 | 0 | 0.07 |
| p.W592X | 1 | 0 | 1,157 | 4,561 | 0.09 | 0 |
| p.R601X | 1 | 0 | 474 | 2,362 | 0.21 | 0 |
| p.Q604X | 0 | 3 | 652 | 2,639 | 0 | 0.11 |
| p.R738X | 0 | 2 | 382 | 401 | 0 | 0.50 |
| p.E803X | 1 | 0 | 1,157 | 4,561 | 0.09 | 0 |
| c.2637+2T→G† | 1 | 1 | 1,525 | 4,897 | 0.07 | 0.02 |
| p.C967X | 0 | 1 | 474 | 2,362 | 0 | 0.04 |
| p.A1201V† | 0 | 2 | 235 | 2,016 | 0 | 0.10 |
| p.R1325X | 1 | 3 | 1,866 | 8,939 | 0.05 | 0.03 |
*
The overall odds ratio for coronary heart disease in mutation carriers, as compared with noncarriers, was 0.47 (95% confidence interval, 0.25 to 0.87; P = 0.008) on the basis of a meta-analysis of independent samples.
†
This mutation was predicted to disrupt messenger RNA splicing.