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Combined effect of factor V Leiden and prothrombin 20210A on the risk of venous thromboembolism : Pooled analysis of 8 case-control studies including 2310 cases and 3204 controls

Emmerich, J. ; Rosendaal, F. R. ; Cattaneo, M. ; Margaglione, M. ; De Stefano, V. ; Cumming, T. ; Arruda, V. ; Hillarp, A. LU and Reny, J. L. (2001) In Thrombosis and Haemostasis 86(3). p.809-816
Abstract

Factor V Leiden and factor II G20210A mutations are two frequent genetic risk factors involved in venous thromboembolism (VTE). The goal of this pooled analysis of 8 case-control studies, comprising a total of 2310 cases and 3204 controls, was to precisely estimate the risk of VTE in patients bearing both mutations (double heterozygotes). Odds ratios for VTE were 4.9 (95% CI; 4.1-5.9) for the factor V Leiden and 3.8 (3.0-4.9) for the factor II G20210A mutation. Fifty-one cases (2.2%) and none of the controls were double heterozygotes. The odds ratio for venous thrombosis in double heterozygotes was 20.0 (11.1-36.1). Twelve percent of patients heterozygous for factor V Leiden were also heterozygous for factor II G20210A and conversely... (More)

Factor V Leiden and factor II G20210A mutations are two frequent genetic risk factors involved in venous thromboembolism (VTE). The goal of this pooled analysis of 8 case-control studies, comprising a total of 2310 cases and 3204 controls, was to precisely estimate the risk of VTE in patients bearing both mutations (double heterozygotes). Odds ratios for VTE were 4.9 (95% CI; 4.1-5.9) for the factor V Leiden and 3.8 (3.0-4.9) for the factor II G20210A mutation. Fifty-one cases (2.2%) and none of the controls were double heterozygotes. The odds ratio for venous thrombosis in double heterozygotes was 20.0 (11.1-36.1). Twelve percent of patients heterozygous for factor V Leiden were also heterozygous for factor II G20210A and conversely 23% of patients heterozygous for factor II G20210A were also heterozygous for factor V Leiden. Furthermore, in this large population we analyzed the effect of oral contraceptive (OC) in women carrying one of these mutations. Odds ratio for VTE associated with OC was 2.29 (1.72-3.04). In factor V Leiden carriers using OC, the odds ratio for VTE was 10.25 (5.69-18.45). The odds ratio of the association of factor II mutation and OC use was 7.14 (3.39-15.04). Finally, we also confirmed that the frequency of factor V Leiden was lower in patients with pulmonary embolism than in patients with deep vein thrombosis without PE (odds ratio 0.69). Conversely, factor II G20210A mutation was equally balanced in both patient groups.

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author
; ; ; ; ; ; ; and
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Deep vein thrombosis, Factor II G20210A, Factor V Leiden, Oral contraceptive
in
Thrombosis and Haemostasis
volume
86
issue
3
pages
809 - 816
publisher
Schattauer GmbH
external identifiers
  • pmid:11583312
  • scopus:0034840147
ISSN
0340-6245
DOI
10.1055/s-0037-1616136
language
English
LU publication?
no
id
87cb559e-d120-4606-9c5c-cddcf2c49025
date added to LUP
2022-08-29 14:04:27
date last changed
2024-04-04 11:09:00
@article{87cb559e-d120-4606-9c5c-cddcf2c49025,
  abstract     = {{<p>Factor V Leiden and factor II G20210A mutations are two frequent genetic risk factors involved in venous thromboembolism (VTE). The goal of this pooled analysis of 8 case-control studies, comprising a total of 2310 cases and 3204 controls, was to precisely estimate the risk of VTE in patients bearing both mutations (double heterozygotes). Odds ratios for VTE were 4.9 (95% CI; 4.1-5.9) for the factor V Leiden and 3.8 (3.0-4.9) for the factor II G20210A mutation. Fifty-one cases (2.2%) and none of the controls were double heterozygotes. The odds ratio for venous thrombosis in double heterozygotes was 20.0 (11.1-36.1). Twelve percent of patients heterozygous for factor V Leiden were also heterozygous for factor II G20210A and conversely 23% of patients heterozygous for factor II G20210A were also heterozygous for factor V Leiden. Furthermore, in this large population we analyzed the effect of oral contraceptive (OC) in women carrying one of these mutations. Odds ratio for VTE associated with OC was 2.29 (1.72-3.04). In factor V Leiden carriers using OC, the odds ratio for VTE was 10.25 (5.69-18.45). The odds ratio of the association of factor II mutation and OC use was 7.14 (3.39-15.04). Finally, we also confirmed that the frequency of factor V Leiden was lower in patients with pulmonary embolism than in patients with deep vein thrombosis without PE (odds ratio 0.69). Conversely, factor II G20210A mutation was equally balanced in both patient groups.</p>}},
  author       = {{Emmerich, J. and Rosendaal, F. R. and Cattaneo, M. and Margaglione, M. and De Stefano, V. and Cumming, T. and Arruda, V. and Hillarp, A. and Reny, J. L.}},
  issn         = {{0340-6245}},
  keywords     = {{Deep vein thrombosis; Factor II G20210A; Factor V Leiden; Oral contraceptive}},
  language     = {{eng}},
  number       = {{3}},
  pages        = {{809--816}},
  publisher    = {{Schattauer GmbH}},
  series       = {{Thrombosis and Haemostasis}},
  title        = {{Combined effect of factor V Leiden and prothrombin 20210A on the risk of venous thromboembolism : Pooled analysis of 8 case-control studies including 2310 cases and 3204 controls}},
  url          = {{http://dx.doi.org/10.1055/s-0037-1616136}},
  doi          = {{10.1055/s-0037-1616136}},
  volume       = {{86}},
  year         = {{2001}},
}