Table 2.
Additional loci showing genome-wide significant association with CAD
| Stage 1 (18,014 cases and 40,925 controls)a |
Stage 2 (40,365 cases and 63,714 controls) |
Combined (stages 1 and 2) |
Stage 3 (5,055 cases and 5,617 controls) |
Combined (stages 1–3) |
||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SNP | Chr. | Nearest gene(s) | Effect/non- effect allele (frequency) |
OR | P | OR | P | P | OR | P | P | Biological relevanceb |
| New | ||||||||||||
| rs4845625 | 1 | IL6R | T/C (0.47) | 1.06 | 4.84 × 10−5 | 1.04 | 3.46 × 10−5 | 3.55 × 10−8 | 1.09 | 1.58 × 10−3 | 3.64 × 10−10 | 2 |
| rs515135 | 2 | APOB | G/A (0.83) | 1.07 | 8.63 × 10−4 | 1.08 | 2.17 × 10−8 | 4.80 × 10−10 | 1.03 | 4.02 × 10−1 | 2.56 × 10−10 | 1 |
| rs2252641 | 2 | ZEB2-AC074093.1 | G/A (0.46) | 1.06 | 1.37 × 10−5 | 1.04 | 1.27 × 10−4 | 3.66 × 10−8 | 1.00 | 9.54 × 10−1 | 5.30 × 10−8 | |
| rs1561198 | 2 | VAMP5-VAMP8-GGCX | A/G (0.45) | 1.06 | 7.47 × 10−5 | 1.05 | 2.57 × 10−6 | 4.48 × 10−9 | 1.07 | 1.75 × 10−2 | 1.22 × 10−10 | A,1 |
| rs7692387 | 4 | GUCY1A3 | G/A (0.81) | 1.08 | 1.04 × 10−5 | 1.06 | 1.89 × 10−5 | 4.57 × 10−9 | 1.13 | 5.47 × 10−4 | 2.65 × 10−11 | 1 |
| rs273909 | 5 | SLC22A4-SLC22A5 | C/T (0.14) | 1.07 | 3.24 × 10−3 | 1.09 | 2.00 × 10−7 | 1.43 × 10−8 | 1.11 | 2.43 × 10−2 | 9.62 × 10−10 | A,1 |
| rs10947789 | 6 | KCNK5 | T/C (0.76) | 1.07 | 6.07 × 10−5 | 1.06 | 1.22 × 10−5 | 1.63 × 10−8 | 1.01 | 7.03 × 10−1 | 9.81 × 10−9 | 3 |
| rs4252120 | 6 | PLG | T/C (0.73) | 1.07 | 1.18 × 10−5 | 1.06 | 1.82 × 10−5 | 5.00 × 10−9 | 1.07 | 9.58 × 10−2 | 4.88 × 10−10 | 1 |
| rs264 | 8 | LPL | G/A (0.86) | 1.11 | 2.99 × 10−7 | 1.05 | 7.30 × 10−4 | 5.06 × 10−9 | 1.06 | 1.60 × 10−1 | 2.88 × 10−9 | 1 |
| rs9319428 | 13 | FLT1 | A/G (0.32) | 1.06 | 7.88 × 10−5 | 1.05 | 5.70 × 10−6 | 1.01 × 10−8 | 1.10 | 1.37 × 10−3 | 7.32 × 10−11 | 1 |
| rs17514846 | 15 | FURIN-FES | A/C (0.44) | 1.07 | 2.37 × 10−5 | 1.05 | 7.35 × 10−7 | 4.49 × 10−10 | 1.04 | 3.02 × 10−1 | 9.33 × 10−11 | A,1 |
| Previouslv reported at array-wide level of significance (P < 3 × 10−6) | ||||||||||||
| Rs2954029 | 8 | TRIB1 | A/T (0.55) | 1.06 | 2.79 × 10−5 | 1.04 | 7.75 × 10−5 | 4.53 × 10−8 | 1.05 | 8.56 × 10−2 | 4.75 × 10−9 | 4 |
| Rs6544713 | 2 | ABCG5-ABCG8 | T/C (0.30) | 1.06 | 2.22 × 10−4 | 1.06 | 1.57 × 10−7 | 8.72 × 10−10 | 0.96 | 3.56 × 10−1 | 2.12 × 10−9 | 1 |
| New (stage 3 replication) | ||||||||||||
| Rs1878406 | 4 | EDNRA | T/C (0.15) | 1.10 | 2.37 × 10−6 | 1.06 | 3.54 × 10−3 | 1.65 × 10−7 | 1.09 | 2.01 × 10−2 | 2.54 × 10−8 | 1 |
| Rs2023938 | 7 | HDAC9 | G/A (0.10) | 1.08 | 6.81 × 10−4 | 1.07 | 5.25 × 10−5 | 6.49 × 10−7 | 1.13 | 4.09 × 10−2 | 4.94 × 10−8 | 1 |
a
Total sample sizes do not include the CHARGE sample sizes.
b
A, cis eQTL in LCLs; 1, mouse model available with cardiovascular phenotype; 2, mouse model has homeostatic and immune phenotypes; 3, mouse model has respiratory, nervous system, mortality, aging, growth and renal phenotypes; 4, mouse model has growth and immune phenotypes.