Table 3. Risk predictions of the four SCN5A variants for Brugada syndrome.
| Healthy Controls | NHLBI ESP Allele Freq | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Locus | No. of Patient | Het | Homo | WT | Het | Homo | MAF | EPV (95%CI) | Odds Ratioa | p-valueb | EuA | AfA |
| 1651G>A (A551T) | 1 | 0 | 1 | 551 | 0 | 0 | 0 | 100 (64.28–100) | 59.59 | 1.41E-04 | NA | NA |
| 1776C>G (N592K) | 1 | 0 | 1 | 550 | 1 | 0 | 0.001 | 97.46 (61.84–99.83) | 23.93 | 4.33E-04 | NA | NA |
| 3269C>T (P1090L) | 6 | 6 | 0 | 529 | 22 | 0 | 0.020 | 90.68 (80.55–95.54) | 3.35 | 3.08E-08 | 0 | 0.00025 |
| 3578G>A (R1193Q) | 2 | 0 | 2 | 485 | 63 | 3 | 0.063 | 16.15 (0–77.19) | 0.66 | 8.09E-01 | 0.0013 | 0 |
Het: Heterozygote; Homo: Homozygote; MAF: Minor Allele Frequency; WT: Wild type; EPV: Estimated Prediction Value; NHLBI ESP: National Heart, Lung, and Blood Institute Exome Sequencing Project; EuA: European American; AfA: African American; NA: Not available;
aAllelic odds ratio was calculated.
bCochran-Armitage trend test was used.