Genetic Status of 332 Individuals From 53 APC-Resistant Families in Relationship to the Presence or Absence of Thrombosis
| . | Symptoms of Thrombosis . | Crude Odds Ratio (95% CI) . | |
|---|---|---|---|
| Present . | Absent . | ||
| None | 14 (9%) | 139 (91%) | — |
| FII:A20210 | 1 (11%) | 8 (89%)-150 | 1.2 (0.14-10.7) |
| FV:R506Q | 40 (28%) | 102 (72%) | 3.9 (2.0-7.5) |
| FV:R506Q + FII:A20210 | 4 (50%) | 4 (50%) | 9.9 (2.2-44.1) |
| FV:R506Q + FV:R506Q | 8 (40%) | 12 (60%) | 6.6 (2.3-18.9) |
| The same analysis after exclusion of 20 protein S-deficient family members. | |||
| None | 11 (8%) | 130 (92%) | — |
| FII:A20210 | 1 (14%) | 6 (86%) | 2.0 (0.22-17.9) |
| FV:R506Q | 37 (27%) | 100 (73%) | 4.4 (2.1-9.0) |
| FV:R506Q + FII:A20210 | 4 (50%) | 4 (50%) | 11.8 (2.6-53.8) |
| FV:R506Q + FV:R506Q | 7 (37%) | 12 (63%) | 6.9 (2.3-21.1) |
| . | Symptoms of Thrombosis . | Crude Odds Ratio (95% CI) . | |
|---|---|---|---|
| Present . | Absent . | ||
| None | 14 (9%) | 139 (91%) | — |
| FII:A20210 | 1 (11%) | 8 (89%)-150 | 1.2 (0.14-10.7) |
| FV:R506Q | 40 (28%) | 102 (72%) | 3.9 (2.0-7.5) |
| FV:R506Q + FII:A20210 | 4 (50%) | 4 (50%) | 9.9 (2.2-44.1) |
| FV:R506Q + FV:R506Q | 8 (40%) | 12 (60%) | 6.6 (2.3-18.9) |
| The same analysis after exclusion of 20 protein S-deficient family members. | |||
| None | 11 (8%) | 130 (92%) | — |
| FII:A20210 | 1 (14%) | 6 (86%) | 2.0 (0.22-17.9) |
| FV:R506Q | 37 (27%) | 100 (73%) | 4.4 (2.1-9.0) |
| FV:R506Q + FII:A20210 | 4 (50%) | 4 (50%) | 11.8 (2.6-53.8) |
| FV:R506Q + FV:R506Q | 7 (37%) | 12 (63%) | 6.9 (2.3-21.1) |
FII:A20210 is the allele of the prothrombin gene; FV:R506Q is the factor V Arg 506 to Gln mutation.
It is notable that two women, 34 and 32 years of age, respectively, with combined A20210 allele and protein S deficiency were asymptomatic, although both had delivered two children.