Skip to main content

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

From: Genetics University of Toronto Thrombophilia Study in Women (GUTTSI): genetic and other risk factors for venous thromboembolism in women

    

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)

  1. *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.