Thrombophilia genotypes
| . | PVI . | NAIS . | APPIS . | Arterial . | Population . |
|---|---|---|---|---|---|
| FVL | |||||
| Heterozygous | 5 | 3 | 3 | 6 | |
| Homozygous | 1 | 0 | 0 | 0 | |
| Wild type | 49 | 43 | 32 | 75 | |
| Mutation, % | 10.7 | 6.3 | 8.1 | 7.2 | 6 |
| 95% CI | 1.5-16.7 | −0.7-17.9 | −0.7-17.8 | 1.70-13.1 | |
| Prothrombin 20210A | |||||
| Heterozygous | 3 | 1 | 1 | 2 | |
| Wild type | 52 | 45 | 34 | 79 | |
| Mutation, % | 5.4 | 2.2 | 2.9 | 2.4 | 3.8 |
| 95% CI | −0.55-11.5 | −2.0-6.4 | −2.6-8.4 | −0.91-5.85 | |
| MTHFR | |||||
| Homozygous TT | 6 | 4 | 3 | 7 | |
| Mutation, % | 11.7 | 9.3 | 9.1 | 9.2* | 15 |
| 95% CI | 2.92-20.6 | 0.62-18.0 | −0.7-18.9 | 2.7-15.7 | |
| Heterozygous CT | 21 | 16 | 13 | 29 | |
| Mutation, % | 41.1 | 37.2 | 39.3 | 38.1 | 37 |
| 95% CI | 27.6-54.7 | 22.8-51.7 | 22.7-56.1 | 27.2-49.1 | |
| Homozygous CC | 24 | 23 | 17 | 40 | |
| Mutation, % | 47 | 53.4 | 51.5 | 52.6 | 57 |
| 95% CI | 33.4-60.8 | 38.6-68.4 | 34.4-68.6 | 41.4-63.9 |
| . | PVI . | NAIS . | APPIS . | Arterial . | Population . |
|---|---|---|---|---|---|
| FVL | |||||
| Heterozygous | 5 | 3 | 3 | 6 | |
| Homozygous | 1 | 0 | 0 | 0 | |
| Wild type | 49 | 43 | 32 | 75 | |
| Mutation, % | 10.7 | 6.3 | 8.1 | 7.2 | 6 |
| 95% CI | 1.5-16.7 | −0.7-17.9 | −0.7-17.8 | 1.70-13.1 | |
| Prothrombin 20210A | |||||
| Heterozygous | 3 | 1 | 1 | 2 | |
| Wild type | 52 | 45 | 34 | 79 | |
| Mutation, % | 5.4 | 2.2 | 2.9 | 2.4 | 3.8 |
| 95% CI | −0.55-11.5 | −2.0-6.4 | −2.6-8.4 | −0.91-5.85 | |
| MTHFR | |||||
| Homozygous TT | 6 | 4 | 3 | 7 | |
| Mutation, % | 11.7 | 9.3 | 9.1 | 9.2* | 15 |
| 95% CI | 2.92-20.6 | 0.62-18.0 | −0.7-18.9 | 2.7-15.7 | |
| Heterozygous CT | 21 | 16 | 13 | 29 | |
| Mutation, % | 41.1 | 37.2 | 39.3 | 38.1 | 37 |
| 95% CI | 27.6-54.7 | 22.8-51.7 | 22.7-56.1 | 27.2-49.1 | |
| Homozygous CC | 24 | 23 | 17 | 40 | |
| Mutation, % | 47 | 53.4 | 51.5 | 52.6 | 57 |
| 95% CI | 33.4-60.8 | 38.6-68.4 | 34.4-68.6 | 41.4-63.9 |
Proportions of each genotype for FVL, prothrombin gene 20210A, and MTHFR are shown for each perinatal stroke disease. Control prevalence is estimated from the literature. No differences were observed between groups except all arterial had significantly lower occurrence of the TT genotype (P = .04). Ten patients (PVI, 5; NAIS, 3; APPIS, 2) did not have MTHFR results available. Homocysteine levels did not differ by stroke group or genotype.
P = .04, all arterial lower than PVI.