Thromb Haemost 1998; 79(05): 907-911
DOI: 10.1055/s-0037-1615091
Review Article
Schattauer GmbH

The Methylenetetrahydrofolate Reductase TT677 Genotype Is Associated with Venous Thrombosis Independently of the Coexistence of the FV Leiden and the Prothrombin

A20210 Mutation
Maurizio Margaglione
1   From Unità di Aterosclerosi e Trombosi, I.R.C.C.S. “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo, Divisione di Ematologia, Unità di Coagulazione, Ospedale “A. Cardarelli”, Napoli, and Istituto di Medicina Interna e Geriatria, Università di Palermo, Italy
,
Giovanna D’Andrea
1   From Unità di Aterosclerosi e Trombosi, I.R.C.C.S. “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo, Divisione di Ematologia, Unità di Coagulazione, Ospedale “A. Cardarelli”, Napoli, and Istituto di Medicina Interna e Geriatria, Università di Palermo, Italy
,
Marina d’Addedda
1   From Unità di Aterosclerosi e Trombosi, I.R.C.C.S. “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo, Divisione di Ematologia, Unità di Coagulazione, Ospedale “A. Cardarelli”, Napoli, and Istituto di Medicina Interna e Geriatria, Università di Palermo, Italy
,
Nicola Giuliani
1   From Unità di Aterosclerosi e Trombosi, I.R.C.C.S. “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo, Divisione di Ematologia, Unità di Coagulazione, Ospedale “A. Cardarelli”, Napoli, and Istituto di Medicina Interna e Geriatria, Università di Palermo, Italy
,
Giuseppe Cappucci
1   From Unità di Aterosclerosi e Trombosi, I.R.C.C.S. “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo, Divisione di Ematologia, Unità di Coagulazione, Ospedale “A. Cardarelli”, Napoli, and Istituto di Medicina Interna e Geriatria, Università di Palermo, Italy
,
Luigi Iannaccone
1   From Unità di Aterosclerosi e Trombosi, I.R.C.C.S. “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo, Divisione di Ematologia, Unità di Coagulazione, Ospedale “A. Cardarelli”, Napoli, and Istituto di Medicina Interna e Geriatria, Università di Palermo, Italy
,
Gennaro Vecchione
1   From Unità di Aterosclerosi e Trombosi, I.R.C.C.S. “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo, Divisione di Ematologia, Unità di Coagulazione, Ospedale “A. Cardarelli”, Napoli, and Istituto di Medicina Interna e Geriatria, Università di Palermo, Italy
,
Elvira Grandone
1   From Unità di Aterosclerosi e Trombosi, I.R.C.C.S. “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo, Divisione di Ematologia, Unità di Coagulazione, Ospedale “A. Cardarelli”, Napoli, and Istituto di Medicina Interna e Geriatria, Università di Palermo, Italy
,
Vincenzo Brancaccio
1   From Unità di Aterosclerosi e Trombosi, I.R.C.C.S. “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo, Divisione di Ematologia, Unità di Coagulazione, Ospedale “A. Cardarelli”, Napoli, and Istituto di Medicina Interna e Geriatria, Università di Palermo, Italy
,
Giovanni Di Minno
1   From Unità di Aterosclerosi e Trombosi, I.R.C.C.S. “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo, Divisione di Ematologia, Unità di Coagulazione, Ospedale “A. Cardarelli”, Napoli, and Istituto di Medicina Interna e Geriatria, Università di Palermo, Italy
› Author Affiliations
Further Information

Publication History

Received 23 September 1997

Accepted after resubmission 05 January 1998

Publication Date:
07 December 2017 (online)

Summary

A polymorphism, C→T677, in the methylenetetrahydrofolate reductase (MTHFR) gene has been identified as a cause of mild hyperhomocysteinemia, a risk factor for venous thrombosis. We have investigated the frequency of the TT genotype in 277 consecutive patients with confirmed deep venous thrombosis and 431 healthy subjects. The TT MTHFR genotype was more frequent in patients than in controls (25.6% vs. 18.1%; p = 0.016). The risk of thrombosis among carriers of this genotype was significantly increased [odds ratio: 1.6 (95% CI: 1.1-2.3)]. The estimated risk associated with the TT genotype was 2.0 (95% CI: 1.3-3.1) in subjects with (n = 122), and 1.3 (95% CI: 0.8-2.0) in those without (n = 155) predisposing (hereditary, acquired or circumstantial) risk factors for venous thrombosis. Factor V Leiden and prothrombin G→A20210 are known risk factors for venous thrombosis. After stratification for FV Leiden and prothrombin A20210 mutations, a significant association was also observed. After adjustment for sex, FV Leiden and prothrombin A20210 mutation, the estimated risk of venous thrombosis among carriers of the TT MTHFR genotype was 1.7 (95% CI: 1.2-2.6). The TT MTHFR genotype is independently associated with venous thrombosis, mainly among individuals with a high risk profile.

 
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