Table 3.
SNPs yielding the most significant associations with CeAD and their proxies in GWAS and follow-up studies
| GWAS meta-analysis (n = 1,393/14,416) |
Follow-up meta-analysis (n = 659/2,648) |
Overall meta-analysis (n = 2,052/17,064) |
|||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SNP | Chr. | EA | EAF | Gene | CeAD site | Phet CeAD siteb | OR (95% CI) |
P | OR (95% CI) |
P | OR (95% CI) |
P | Phet |
| rs12402265a | 1 | A | 0.27 | FGGY | All | 0.70 | 1.23 (1.13–1.35) |
6.12 × 10−6 | 1.21 (1.04–1.40) |
0.012 | 1.23 (1.14–1.33) |
2.30 × 10−7 | 0.83 |
| Carotid | 1.23 (1.10–1.38) |
2.95 × 10−4 | 1.40 (1.17–1.68) |
2.52 × 10−4 | 1.28 (1.16–1.41) |
5.46 × 10−7 | 0.24 | ||||||
| Vertebral | 1.27 (1.10–1.47) |
1.36 × 10−3 | 1.05 (0.85–1.31) |
0.64 | 1.20 (1.06–1.35) |
3.47 × 10−3 | 0.16 | ||||||
| rs6741522 | 2 | A | 0.13 | ZNF804A | All | 0.64 | 1.34 (1.19–1.50) |
5.65 × 10−7 | 1.09 (0.91–1.31) |
0.36 | 1.26 (1.15–1.39) |
2.29 × 10−6 | 0.06 |
| Carotid | 1.37 (1.19–1.57) |
1.17 × 10−5 | 1.05 (0.83–1.32) |
0.68 | 1.27 (1.13–1.44) |
7.33 × 10−5 | 0.06 | ||||||
| Vertebral | 1.32 (1.10–1.60) |
3.53 × 10−3 | 1.24 (0.96–1.61) |
0.10 | 1.29 (1.11–1.51) |
8.92 × 10−4 | 0.69 | ||||||
| rs6820391 | 4 | A | 0.29 | LNX1 | All | 0.038 | 1.23 (1.12–1.35) |
6.35 × 10−6 | 1.28 (1.10–1.47) |
9.28 × 10−4 | 1.24 (1.15–1.34) |
2.36 × 10−8 | 0.68 |
| Carotid | 1.30 (1.16–1.45) |
3.88 × 10−6 | 1.29 (1.08–1.55) |
4.84 × 10−3 | 1.30 (1.18–1.43) |
6.41 × 10−8 | 0.97 | ||||||
| Vertebral | 1.09 (0.94–1.26) |
0.28 | 1.23 (1.00–1.52) |
0.049 | 1.13 (1.00–1.28) |
0.042 | 0.33 | ||||||
| rs9349379 | 6 | G | 0.40 | PHACTR1 | All | 0.52 | 0.75 (0.69–0.82) |
4.46 × 10−10 | 0.81 (0.71–0.94) |
3.91 × 10−3 | 0.77 (0.72–0.83) |
1.00 × 10−11 | 0.36 |
| Carotid | 0.76 (0.68–0.85) |
1.27 × 10−6 | 0.76 (0.64–0.90) |
1.79 × 10−3 | 0.76 (0.69–0.83) |
8.24 × 10−9 | 0.96 | ||||||
| Vertebral | 0.72 (0.62–0.84) |
1.38 × 10−5 | 0.92 (0.75–1.13) |
0.42 | 0.79 (0.70–0.88) |
6.32 × 10−5 | 0.06 | ||||||
| rs11172113 | 12 | C | 0.39 | LRP1 | All | 0.061 | 0.78 (0.71–0.85) |
4.22 × 10−8 | 0.93 (0.81–1.07) |
0.34 | 0.82 (0.76–0.89) |
3.03 × 10−7 | 0.03 |
| Carotid | 0.74 (0.66–0.83) |
1.14 × 10−7 | 0.88 (0.75–1.05) |
0.16 | 0.78 (0.71–0.86) |
1.90 × 10−7 | 0.08 | ||||||
| Vertebral | 0.89 (0.77–1.03) |
0.11 | 0.99 (0.81–1.21) |
0.93 | 0.92 (0.82–1.04) |
0.17 | 0.39 | ||||||
| rs1466535a | 12 | A | 0.32 | LRP1 | All | 6.49 × 10−3 | 0.80 (0.73–0.88) |
2.07 × 10−6 | 0.92 (0.80–1.07) |
0.30 | 0.83 (0.77–0.90) |
4.94 × 10−6 | 0.10 |
| Carotid | 0.73 (0.65–0.82) |
2.50 × 10−7 | 0.85 (0.71–1.01) |
0.07 | 0.76 (0.69–0.84) |
1.17 × 10−7 | 0.18 | ||||||
| Vertebral | 0.97 (0.84–1.12) |
0.68 | 0.99 (0.80–1.22) |
0.92 | 0.98 (0.87–1.10) |
0.69 | 0.87 | ||||||
Chr., chromosome; EA, effect allele (minor allele); EAF, effect allele frequency (in controls from the GWAS); OR, odds ratio; CI, confidence interval; Phet, P value for heterogeneity between the discovery GWAS and the follow-up sample.
a
These SNPs were imputed (HapMap 2) in the Maryland follow-up sample with R2 = 0.93 (rs1466535) and 1 (rs12402265).
b
The P value of association with the dissection site in a case-only analysis.