Table 4.
Published case-control studies of the risk for VTE in the presence of polymorphisms of the prothrombin, factor V and MTHFR C677T genes, as well as fasting hyperhomocysteinaemia
| Prevalence of | ||||||
| thrombophilia defect (%) | ||||||
| Thrombophilia defect | Reference | Population | VTE type | Cases | Controls | Risk estimate (95% CI) |
| Prothrombin gene (+/+ or +/-) | [41] | Men and women | Any VTE | 4.6 | 1.0 | ORc 4.8 (1.5-19.8) |
| [42] | Men and women | Any VTE | 14.2 | 4.6 | ORc 3.4 (2.2-5.5) | |
| [43] | Men and women | Any VTE | 10.2 | 2.8 | ORa 4.0 (1.9-8.5) | |
| [44] | Men and women | Any VTE | 18.5 | 5.4* | ORa 3.6 (1.8-7.3) | |
| [45] | Men and women | Any DVT | 7.1 | 1.8 | ORa 3.8 (1.1-13.2) | |
| [20] | Men and women | First DVT | 6.2 | 2.3 | ORc 2.8 (1.4-5.6) | |
| [46] | Men and women | First DVT | 15.9 | 2.3 | ORa 8.7 (3.8-21.4) | |
| [10] | Pregnant women | Any VTE | 16.9 | 1.3 | RRa 15.2 (4.2-52.6) | |
| [47] | Pregnant women | Any VTE | 31.0 | 4.2 | ORa 10.2 (4.0-25.9) | |
| Present study | Women | Any VTE | 9.3 | 2.3 | ORa 4.3 (1.1-17.4) | |
| Factor V gene (+/+ or +/-) | [41] | Men and women | Any VTE | 12.5 | 1.4 | ORc 2.7 (1.5-4.9) |
| [42] | Men and women | Any VTE | 18.2 | 5.1 | ORc 4.2 (2.7-6.4) | |
| [48] | Men and women | Any VTE | 53.0 | 3.3 | ORc 17.4 (11.4-93.0) | |
| [49] | Men and women | Any VTE | 26.0 | 7.6 | ORc 4.3 (2.3-8.1) | |
| [43] | Men and women | Any VTE | 19.5 | 3.5 | ORa 6.5 (3.5-12.5) | |
| [44] | Men and women | Any VTE | 40.1 | 3.9† | ORa 16.3 (8.5-31.3) | |
| [50] | Men and women | DVT and PE | 14.8 | 5.3 | ORc 4.2 (1.5-10.3) | |
| [51] | Men and women | Any DVT | 19.5 | 2.9 | ORc 8.0 (4.5-14.2) | |
| [52] | Men and women | Any DVT | 28.0 | 11.0 | ORa 3.1 (1.7-5.5) | |
| [53] | Men and women | Any DVT | 23.5 | 6.1 | ORc 4.7 (1.5-15.0) | |
| [46] | Men and women | First DVT | 21.1 | 3.2 | ORa 7.8 (3.9-17.1) | |
| [10] | Pregnant women | Any VTE | 43.7 | 7.7 | RRa 9.3 (5.1-16.9) | |
| [47] | Pregnant women | Any VTE | 23.8 | 1.9 | ORc 16.3 (4.8-54.9) | |
| Present study | Women | Any VTE | 16.3 | 3.9 | ORa 3.9 (1.4-10.8) | |
| MTHFR gene (+/+) | [54] | Men and women | Any VTE | 10.0 | 13.0 | ORc 0.7 (0.5-1.0) |
| [55] | Men and women | Any VTE | 28.2 | 17.7 | ORc 1.8 (1.2-2.9) | |
| [49] | Men and women | Any VTE | 11.5 | 15.0 | ORc 0.7 (0.4-1.3) | |
| [43] | Men and women | Any VTE | 12.7 | 12.3 | ORa 1.0 (0.6-1.7) | |
| [44] | Men and women | Any VTE | 22.8 | 14.3 | ORa 2.1 (1.2-3.7) | |
| [56] | Men and women | Any VTE | 12.3‡ | 13.0 | ORc 0.9 (0.4-2.4) | |
| [57] | Men and women | Any VTE | 8.0 | 6.4 | ORc 1.4 (0.5-4.0) | |
| [58] | Men and women | Any VTE | 12.3 | 13.1 | ORc 0.9 (0.4-2.3) | |
| [53] | Men and women | Any DVT | 7.4 | 10.6 | ORc 0.7 (0.2-2.2) | |
| [59] | Men and women | Any DVT | 25.6 | 18.1 | ORc 1.7 (1.1-2.5) | |
| [60] | Men and women | Any DVT | 10.0 | 9.9 | ORc 1.0 (0.7-1.5) | |
| [46] | Men and women | First DVT | 20.5 | 21.0 | ORa 1.0 (0.7-1.2) | |
| [47] | Pregnant women | Any VTE | 28.6 | 16.0 | ORc 2.1 (1.0-4.5) | |
| Present study | Women | Any VTE | 14.7 | 10.1 | ORa 1.4 (0.6-3.1) | |
| Fasting hyperhomocysteinaemia | [24] | Men and women | Any VTE | 12.5 | 4.7 | ORp 3.0 (2.1-4.2)$ |
| [55] | Men and women | Any VTE | 16.0 | 5.0 | ORc 3.6 (1.8-7.3) | |
| Present study | Women | Any VTE | 35.6 | 4.0 | ORa 17.8 (4.2-74.9) | |
*Describes the +/- genotype. †Describes the +/+ genotype. ‡Describes the prevalence of the MTHFR C677T +/+ state among individuals with factor V. $Comprises pooled data from nine observational studies. DVT, deep vein thrombosis; +/+, homozygous; +/-, heterozygous; ORa, adjusted OR; ORc, crude OR; ORp, pooled OR; RRa, adjusted relative risk.