Table 3.
Coronary artery disease variants and aortic root size variants that associate with aortic valve stenosis
| Primary association | Locus | Chr. | Coding effect | Rs name | EA/other allele | OR (95% CI) | P value | P het | I 2 |
|---|---|---|---|---|---|---|---|---|---|
| CAD | CELSR2/PSRC1 | 1 | Downstream gene | Rs646776 | T/C | 1.11 (1.05–1.18) | 3.4 × 10−4 | 0.82 | 0 |
| CAD | LPA | 6 | Missense (p.Ile1891Met) | Rs3798220 | C/T | 1.55 (1.33–1.81) | 2.1 × 10−8 | 0.4 | 0 |
| CAD | SH2B3 | 12 | Missense (p.Trp60Arg) | Rs3184504 | C/T | 0.91 (0.87–0.96) | 1.6 × 10−4 | 0.94 | 0 |
| Aortic root size | CFDP1 a | 16 | Intronic | Rs17696696 | G/T | 1.07 (1.03–1.11) | 1.3 × 10−4 | 0.055 | 60.5 |
| CAD | ANGPTL4 b | 19 | Missense (p.Glu40Lys) | Rs116843064 | A/G | 0.77 (0.68–0.88) | 9.5 × 10−5 | 0.36 | 8.6 |
Shown are CAD variants and aortic root size variants that associate with AS. A total of 71 CAD and 11 aortic root size variants from genome-wide association studies were tested (primary association). The CELSR2/PSRC1, LPA, and SH2B3 variants were tested in 4,301 AS cases and 756,156 controls from Iceland and the UK Biobank. Results from the different study groups were combined using a Mantel–Haenszel model
P values for the combined analyses are provided
CAD coronary artery disease, AS aortic valve stenosis, Chr.: chromosome, EA effect allele, OR odds ratio, Phet: P value for heterogeneity between study groups, I2: heterogeneity I2 statistics for the combined analysis
a The CFDP1 variant was tested in 6,416 cases and 784,277 controls (additional samples from Sweden-Stockholm, Norway-HUNT, and the USA, Michigan)
b The ANGPTL4 variant was tested in 6,886 cases and 799,439 controls (same samples as for CFDP1 plus samples from Sweden-MDCS)