Table 2.
Lead single variant signals at distinct locus (MMP9) and signals distinct from prior GWAS identified variants at known loci
| Trait | Locus Name | rsID | CHR | POS (hg38) | Effect | Other | Unconditional | Conditional | EAF | Distal/ Local | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| p-value | Beta | SE | p-value | Beta | SE | |||||||||
| E-selectin | ABO | rs8176719 | 9 | 133257521 | TC | T | 4.3E-141 | −0.24 | 0.01 | 7.7E-12 | −0.07 | 0.01 | 33.9% | Distal |
| ABO | rs374594061 | 9 | 132553865 | A | G | 2.6E-06 | 0.71 | 0.15 | 1.8E-07 | 0.71 | 0.14 | 0.1% | Distal | |
| Intercellular Adhesion Molecule 1 (ICAM-1) | ICAM1 | rs11575071 | 19 | 10272168 | G | C | 2.3E-45 | −0.49 | 0.04 | 3.4E-52 | −0.54 | 0.04 | 0.3% | Local |
| ICAM1 | rs5491 | 19 | 10274864 | T | A | 2.5E-36 | −0.14 | 0.01 | 1.7E-17 | −0.10 | 0.01 | 4.5% | Local | |
| ICAM1 | rs139053442 | 19 | 10283720 | C | G | 9.1E-17 | −0.54 | 0.07 | 1.9E-17 | −0.53 | 0.06 | 0.1% | Local | |
| ICAM1 | rs28382777 | 19 | 10400963 | G | T | 6.6E-04 | −0.08 | 0.02 | 1.4E-09 | −0.13 | 0.02 | 0.6% | Local | |
| ICAM1 | rs5030400 | 19 | 10285120 | T | C | 4.7E-07 | 0.15 | 0.03 | 2.0E-07 | 0.14 | 0.03 | 0.4% | Local | |
| Interleukin-6 (IL-6) | IL6R | rs568587329 | 1 | 154730517 | T | C | 5.4E-06 | −0.93 | 0.20 | 1.2E-06 | −0.99 | 0.20 | 0.0% | Distal |
| Lipoprotein-associated phospholipase A2 (Lp-PLA2) Activity | PLA2G7 | rs144007943 | 6 | 46662909 | G | T | 8.0E-34 | −0.46 | 0.04 | 5.8E-36 | −0.48 | 0.04 | 0.2% | Local |
| PLA2G7 | rs74479543 | 6 | 46784401 | A | G | 2.3E-22 | −0.13 | 0.01 | 1.8E-24 | −0.13 | 0.01 | 2.4% | Local | |
| PLA2G7 | rs144067869 | 6 | 46709433 | G | A | 1.7E-10 | −0.35 | 0.06 | 8.7E-11 | −0.36 | 0.06 | 0.1% | Local | |
| PLA2G7 | rs150641786 | 6 | 46774942 | A | C | 3.6E-03 | 0.05 | 0.02 | 1.1E-06 | 0.07 | 0.02 | 1.4% | Local | |
| APOE | rs429358 | 19 | 44908684 | C | T | 4.2E-37 | 0.06 | 0.01 | 1.0E-13 | 0.06 | 0.01 | 13.7% | Distal | |
| APOE | rs8106813 | 19 | 44928401 | G | A | 1.2E-02 | 0.01 | 0.00 | 1.2E-07 | 0.02 | 0.00 | 54.6% | Distal | |
| Lipoprotein-associated phospholipase A2 (Lp-PLA2) Mass | PLA2G7 | rs144007943 | 6 | 46662909 | G | T | 9.0E-25 | −0.39 | 0.04 | 5.1E-25 | −0.39 | 0.04 | 0.2% | Local |
| PLA2G7 | rs74479543 | 6 | 46784401 | A | G | 2.6E-10 | −0.08 | 0.01 | 9.0E-13 | −0.09 | 0.01 | 2.4% | Local | |
| PLA2G7 | rs144067869 | 6 | 46709433 | G | A | 5.3E-11 | −0.39 | 0.06 | 2.5E-10 | −0.37 | 0.06 | 0.1% | Local | |
| PLA2G7 | rs73471140 | 6 | 46641939 | C | T | 3.1E-07 | −0.17 | 0.03 | 8.2E-09 | −0.19 | 0.03 | 0.3% | Local | |
| P-selectin | SELP | rs6128 | 1 | 169593666 | T | C | 2.3E-10 | −0.05 | 0.01 | 5.8E-17 | −0.07 | 0.01 | 28.9% | Local |
| SELP | rs3917825 | 1 | 169595320 | G | A | 3.9E-07 | −0.19 | 0.04 | 2.9E-10 | −0.23 | 0.04 | 0.9% | Local | |
| SELP | rs3917677 | 1 | 169622970 | C | A | 4.7E-09 | −0.31 | 0.05 | 5.1E-08 | −0.28 | 0.05 | 0.4% | Local | |
| ABO | rs635634 | 9 | 133279427 | C | T | 1.0E-55 | 0.16 | 0.01 | 2.0E-15 | 0.19 | 0.02 | 84.7% | Distal | |
| Matrix metalloproteinase-9 (MMP-9) | MMP9 | rs3918249 | 20 | 46009497 | C | T | 1.6E-11 | 0.07 | 0.01 | 35.5% | Local | |||
Trait: trait name
Locus Name: significant loci identified by single variant analysis rsID: rsID of lead signal
Unconditional: summary statistics of marginal analysis including p-value, beta coefficient, and standard error (SE)
Conditional: summary statistics of conditional analysis including p-value, beta coefficient, and standard error (SE). Variants conditioned on are listed in Table S6.
EAF: Effect Allele Frequency (TOPMed), frequency of effect allele of the lead signal within TOPMed
Distal/Local: Distal means that the lead signal is more than 1Mb from the locus while local is in the 1Mb region on either side of the center of the locus