Seminal publications on the association between commonly tested thrombophilias and arterial thrombotic events
| Disorder . | Reference . | Outcome . | Age or other characteristic . | Genotype or diagnostic category . | Result (95% CI) . |
|---|---|---|---|---|---|
| FVL | Kim et al58 | MI, stroke, PVD | All ages | Heterozygous* | OR 1.21 (0.99-1.49) |
| <55 y | OR 1.37 (0.96-1.97) | ||||
| Ye et al59 | MI, CAD | NS | Per-allele RR 1.17 (1.08-1.28) | ||
| Mannucci et al60 | MI | <45 y | OR 1.66 (1.15-2.38) | ||
| Chiasakul et al63 | Stroke | All ages | OR 1.23 (1.05-1.45) | ||
| Homozygous | OR 2.24 (1.26-4.71) | ||||
| PT20210 | Kim et al58 | MI, stroke | All ages | Heterozygous* | OR 1.32 (1.03-1.69) |
| <55 y | OR 1.66 (1.13-2.46) | ||||
| Ye et al59 | MI, CAD | NS | Per-allele RR 1.31 (1.12-1.52) | ||
| Mannucci et al60 | MI | <45 y | OR 1.28 (0.91-1.79) | ||
| Vazquez et al61 | PVD | NS | OR 1.68 (0.8-3.2) | ||
| CLI | OR 3.2 (1.6-6.1) | ||||
| Chiasakul et al63 | Stroke | All ages | OR 1.41 (1.13-1.76) | ||
| Homozygous | OR 7.19 (2.47-20.94) | ||||
| PC | Mahmoodi et al64 | MI, stroke, TIA, PVD | >15 y | NS | OR 6.9 (2.1-22.2) |
| Chiasakul et al63 | Stroke | All ages | OR 2.13 (1.16-3.90) | ||
| PS | Mahmoodi et al64 | MI, stroke, TIA, PVD | >15 y | NS | OR 4.6 (1.1-18.3) |
| Chiasakul et al63 | Stroke | All ages | OR 2.26 (1.34-3.80) | ||
| AT | Mahmoodi et al64 | MI, stroke, TIA, PVD | >15 y | NS | OR 1.1 (0.1-10.9) |
| Chiasakul et al63 | Stroke | All ages | 1.25 (0.58-2.67) | ||
| APS | Neville et al68 | MI, angina,stroke, TIA, other | >18y | Number ab present (per 1-ab difference) | OR 1.46 (0.93-2.27) |
| aCL + LAC + aß2GPI | OR 3.20 (0.60-17.18) | ||||
| FVIII | Zakai et al73 | Stroke | ≥45 y | Per SD increase | HR 1.26 (1.08-1.46) |
| CAD | Per SD increase | HR 1.52 (1.29-1.79) | |||
| Folsom et al74 | CAD | 45-84 y | Highest quartile elevation | HR 1.13 (0.80-1.75) | |
| Homocysteine | Homocysteine Studies Collab76 | CAD | NS | Highest quintile elevation | OR 1.16 (1.02-1.32) |
| MTHFR | Kim et al58 | MI, stroke | All ages | Homozygous C677T | OR 1.20 (1.02-1.41) |
| <55 y | OR 1.41 (1.13-1.76) | ||||
| Klerk et al80 | CAD | European | OR 1.14 (1.01-1.28) | ||
| North American | OR 0.87 (0.73-1.05) |
| Disorder . | Reference . | Outcome . | Age or other characteristic . | Genotype or diagnostic category . | Result (95% CI) . |
|---|---|---|---|---|---|
| FVL | Kim et al58 | MI, stroke, PVD | All ages | Heterozygous* | OR 1.21 (0.99-1.49) |
| <55 y | OR 1.37 (0.96-1.97) | ||||
| Ye et al59 | MI, CAD | NS | Per-allele RR 1.17 (1.08-1.28) | ||
| Mannucci et al60 | MI | <45 y | OR 1.66 (1.15-2.38) | ||
| Chiasakul et al63 | Stroke | All ages | OR 1.23 (1.05-1.45) | ||
| Homozygous | OR 2.24 (1.26-4.71) | ||||
| PT20210 | Kim et al58 | MI, stroke | All ages | Heterozygous* | OR 1.32 (1.03-1.69) |
| <55 y | OR 1.66 (1.13-2.46) | ||||
| Ye et al59 | MI, CAD | NS | Per-allele RR 1.31 (1.12-1.52) | ||
| Mannucci et al60 | MI | <45 y | OR 1.28 (0.91-1.79) | ||
| Vazquez et al61 | PVD | NS | OR 1.68 (0.8-3.2) | ||
| CLI | OR 3.2 (1.6-6.1) | ||||
| Chiasakul et al63 | Stroke | All ages | OR 1.41 (1.13-1.76) | ||
| Homozygous | OR 7.19 (2.47-20.94) | ||||
| PC | Mahmoodi et al64 | MI, stroke, TIA, PVD | >15 y | NS | OR 6.9 (2.1-22.2) |
| Chiasakul et al63 | Stroke | All ages | OR 2.13 (1.16-3.90) | ||
| PS | Mahmoodi et al64 | MI, stroke, TIA, PVD | >15 y | NS | OR 4.6 (1.1-18.3) |
| Chiasakul et al63 | Stroke | All ages | OR 2.26 (1.34-3.80) | ||
| AT | Mahmoodi et al64 | MI, stroke, TIA, PVD | >15 y | NS | OR 1.1 (0.1-10.9) |
| Chiasakul et al63 | Stroke | All ages | 1.25 (0.58-2.67) | ||
| APS | Neville et al68 | MI, angina,stroke, TIA, other | >18y | Number ab present (per 1-ab difference) | OR 1.46 (0.93-2.27) |
| aCL + LAC + aß2GPI | OR 3.20 (0.60-17.18) | ||||
| FVIII | Zakai et al73 | Stroke | ≥45 y | Per SD increase | HR 1.26 (1.08-1.46) |
| CAD | Per SD increase | HR 1.52 (1.29-1.79) | |||
| Folsom et al74 | CAD | 45-84 y | Highest quartile elevation | HR 1.13 (0.80-1.75) | |
| Homocysteine | Homocysteine Studies Collab76 | CAD | NS | Highest quintile elevation | OR 1.16 (1.02-1.32) |
| MTHFR | Kim et al58 | MI, stroke | All ages | Homozygous C677T | OR 1.20 (1.02-1.41) |
| <55 y | OR 1.41 (1.13-1.76) | ||||
| Klerk et al80 | CAD | European | OR 1.14 (1.01-1.28) | ||
| North American | OR 0.87 (0.73-1.05) |
Note: Studies devoted to pediatric populations (<18 y) not included.
ab, antibody; CAD, coronary artery disease; CLI, critical limb ischemia; LA, lupus anticoagulant; MI, myocardial infarction; NS, not specified; PVD, peripheral vascular disease; SD, standard deviation; TIA, transient ischemic attack.
Most cases are heterozygous but presumably there are a few homozygous included, with exact numbers not reported.