Table 2.
Previously Unreported Top-Ranking SNPs of INT QTc Interval in the Phase 1 and 2 Studies and the Combined Results
| Genea | SNP ID | Type | Chr | Minor Allele | MAF |
Phase 1 (n = 6,805) |
Phase 2 |
Combined |
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
Japanese (n = 2,687) |
Korean (n = 4,686) |
||||||||||||||||
| β | SEM | p | β | SEM | p | β | SEM | p | Combined p | Q | I2 | ||||||
| KCNS3 | rs6748095 | downstream | 2 | G | 0.31 | 0.072 | 0.017 | 1.80 × 10−5 | −0.038 | 0.026 | 1.53 × 10−1 | 0.017 | 0.020 | 3.86 × 10−1 | 4.47 × 10−3 | 0.003 | 82.79 |
| NCOA2 | rs11993276 | intron | 8 | A | 0.48 | 0.075 | 0.016 | 3.50 × 10−6 | −0.024 | 0.024 | 3.27 × 10−1 | 0.038 | 0.019 | 5.33 × 10−2 | 5.52 × 10−5 | 0.0027 | 83.14 |
| DAB1 | rs1213770 | intron | 1 | A | 0.39 | 0.062 | 0.016 | 9.80 × 10−5 | −0.037 | 0.025 | 1.30 × 10−1 | −0.004 | 0.019 | 8.53 × 10−1 | 5.13 × 10−2 | 0.0011 | 85.38 |
| AJAP1 | rs2071995 | intron | 1 | A | 0.35 | 0.067 | 0.017 | 9.90 × 10−5 | 0.042 | 0.026 | 1.04 × 10−1 | 0.001 | 0.020 | 9.69 × 10−1 | 4.88 × 10−4 | 0.3887 | 0 |
| TMEM20 | rs10882364 | downstream | 10 | T | 0.45 | −0.095 | 0.024 | 1.10 × 10−4 | −0.017 | 0.037 | 6.55 × 10−1 | 0.031 | 0.029 | 2.71 × 10−1 | 1.97 × 10−2 | 0.0422 | 68.41 |
| KCNS3 | rs4832537 | downstream | 2 | A | 0.46 | −0.058 | 0.016 | 3.10 × 10−4 | 0.015 | 0.024 | 5.34 × 10−1 | 0.003 | 0.020 | 8.85 × 10−1 | 3.07 × 10−2 | 0.0112 | 77.72 |
| CORIN | rs6447580 | intron | 4 | C | 0.26 | 0.055 | 0.016 | 6.50 × 10−4 | 0.012 | 0.024 | 6.15 × 10−1 | 0.009 | 0.019 | 6.36 × 10−1 | 3.73 × 10−3 | 0.0119 | 77.45 |
| SLC8A1 | rs13017846 | upstream | 2 | G | 0.42 | −0.069 | 0.016 | 1.70 × 10−5 | −0.087 | 0.026 | 8.83 × 10−4 | −0.104 | 0.020 | 1.36 × 10−7 | 8.00 × 10−14 | 0.0904 | 58.4 |
| SLC6A5 | rs4922798 | intron | 11 | G | 0.41 | −0.066 | 0.018 | 2.90 × 10−4 | −0.010 | 0.028 | 7.14 × 10−1 | 0.016 | 0.022 | 4.71 × 10−1 | 2.34 × 10−2 | 0.1214 | 52.58 |
| MAPRE1 | rs6119294 | downstream | 20 | A | 0.34 | −0.053 | 0.017 | 1.50 × 10−3 | −0.003 | 0.025 | 9.09 × 10−1 | −0.002 | 0.020 | 9.29 × 10−1 | 2.06 × 10−2 | 0.0013 | 85.01 |
| SLC9A9 | rs986376 | intron | 3 | G | 0.39 | −0.064 | 0.017 | 1.30 × 10−4 | 0.053 | 0.025 | 3.50 × 10−2 | 0.002 | 0.020 | 9.13 × 10−1 | 8.24 × 10−2 | 0.0003 | 87.79 |
The effect size of β is on a standard-deviation scale of the inverse normal transformed (INT) QTc (Bazett) interval. Minor alleles for which the effect is estimated refer to the positive strand and are based on NCBI Build 36. The following abbreviations are used: Chr, chromosome; MAF, minor allele frequency; and SEM, standard error of the mean.
a
Nearby genes are defined as the closest genes to the SNP within the signal boundary or a 200 kb window.