The G1691→A mutation of factor V, but not the G20210→A mutation of factor II or the C677→T mutation of methylenetetrahydrofolate reductase genes, is associated with venous thrombosis in patients with lupus anticoagulants

Monica Galli, Guido Finazzi, Francesca Duca, Francesca Norbis, Marco Moia

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Abstract

Arterial and venous thrombosis are the most common manifestations of antiphospholipid syndrome. To investigate whether genetic determinants contribute to their thrombotic risk, we studied the prevalence of the G1691→A mutation in the gene coding for factor V, the G20210→A mutation in the prothrombin gene and the C677→T mutation in the methylenetetrahydrofolate reductase gene in 152 patients with lupus anticoagulants. One hundred and twenty-eight cases (84%) also had increased titres of anticardiolipin antibodies. History of thrombosis was present in 96 patients (63%); 67 suffered from venous thrombosis only, 23 cases had arterial thrombosis only, six patients had both venous and arterial thrombosis. Five patients were heterozygous for the G1691→A mutation in the factor V gene (3%). All of them (100%) suffered from venous thrombosis compared with 68 out of the 147 cases without the mutation (46%) (P = 0.0474). The prevalence of the G20210→A mutation in the prothrombin gene was evaluated in 145 patients; eight of these patients were heterozygous (5%). Four of these patients (50%) experienced venous thrombosis compared with 65 out of the 137 patients without the mutation (47%) (P = ns). Neither mutation was associated with arterial thrombotic events. No patient carried both mutations. The C677→T mutation in the methylenetetrahydrofolate reductase gene was assessed in 83 patients; 15 of them (18%) were homozygous and 37 (44%) were heterozygous. There was no significant association between the status of the mutation and history of venous and arterial thrombosis. No significant correlation was found among the three groups. In conclusion, only the G1691→A mutation in the factor V gene was associated with the thrombotic risk of patients with lupus anti- coagulants.

Original languageEnglish
Pages (from-to)865-870
Number of pages6
JournalBritish Journal of Haematology
Volume108
Issue number4
Publication statusPublished - 2000

Fingerprint

Methylenetetrahydrofolate Reductase (NADPH2)
Lupus Coagulation Inhibitor
Prothrombin
Venous Thrombosis
Mutation
Genes
Factor V
factor V Leiden
Thrombosis
Anticardiolipin Antibodies
Coagulants
Antiphospholipid Syndrome

Keywords

  • C677→T mutation
  • G1691→A mutation
  • G20210→A
  • Lupus anticoagulants
  • Venous thrombosis

ASJC Scopus subject areas

  • Hematology

Cite this

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title = "The G1691→A mutation of factor V, but not the G20210→A mutation of factor II or the C677→T mutation of methylenetetrahydrofolate reductase genes, is associated with venous thrombosis in patients with lupus anticoagulants",
abstract = "Arterial and venous thrombosis are the most common manifestations of antiphospholipid syndrome. To investigate whether genetic determinants contribute to their thrombotic risk, we studied the prevalence of the G1691→A mutation in the gene coding for factor V, the G20210→A mutation in the prothrombin gene and the C677→T mutation in the methylenetetrahydrofolate reductase gene in 152 patients with lupus anticoagulants. One hundred and twenty-eight cases (84{\%}) also had increased titres of anticardiolipin antibodies. History of thrombosis was present in 96 patients (63{\%}); 67 suffered from venous thrombosis only, 23 cases had arterial thrombosis only, six patients had both venous and arterial thrombosis. Five patients were heterozygous for the G1691→A mutation in the factor V gene (3{\%}). All of them (100{\%}) suffered from venous thrombosis compared with 68 out of the 147 cases without the mutation (46{\%}) (P = 0.0474). The prevalence of the G20210→A mutation in the prothrombin gene was evaluated in 145 patients; eight of these patients were heterozygous (5{\%}). Four of these patients (50{\%}) experienced venous thrombosis compared with 65 out of the 137 patients without the mutation (47{\%}) (P = ns). Neither mutation was associated with arterial thrombotic events. No patient carried both mutations. The C677→T mutation in the methylenetetrahydrofolate reductase gene was assessed in 83 patients; 15 of them (18{\%}) were homozygous and 37 (44{\%}) were heterozygous. There was no significant association between the status of the mutation and history of venous and arterial thrombosis. No significant correlation was found among the three groups. In conclusion, only the G1691→A mutation in the factor V gene was associated with the thrombotic risk of patients with lupus anti- coagulants.",
keywords = "C677→T mutation, G1691→A mutation, G20210→A, Lupus anticoagulants, Venous thrombosis",
author = "Monica Galli and Guido Finazzi and Francesca Duca and Francesca Norbis and Marco Moia",
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volume = "108",
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T1 - The G1691→A mutation of factor V, but not the G20210→A mutation of factor II or the C677→T mutation of methylenetetrahydrofolate reductase genes, is associated with venous thrombosis in patients with lupus anticoagulants

AU - Galli, Monica

AU - Finazzi, Guido

AU - Duca, Francesca

AU - Norbis, Francesca

AU - Moia, Marco

PY - 2000

Y1 - 2000

N2 - Arterial and venous thrombosis are the most common manifestations of antiphospholipid syndrome. To investigate whether genetic determinants contribute to their thrombotic risk, we studied the prevalence of the G1691→A mutation in the gene coding for factor V, the G20210→A mutation in the prothrombin gene and the C677→T mutation in the methylenetetrahydrofolate reductase gene in 152 patients with lupus anticoagulants. One hundred and twenty-eight cases (84%) also had increased titres of anticardiolipin antibodies. History of thrombosis was present in 96 patients (63%); 67 suffered from venous thrombosis only, 23 cases had arterial thrombosis only, six patients had both venous and arterial thrombosis. Five patients were heterozygous for the G1691→A mutation in the factor V gene (3%). All of them (100%) suffered from venous thrombosis compared with 68 out of the 147 cases without the mutation (46%) (P = 0.0474). The prevalence of the G20210→A mutation in the prothrombin gene was evaluated in 145 patients; eight of these patients were heterozygous (5%). Four of these patients (50%) experienced venous thrombosis compared with 65 out of the 137 patients without the mutation (47%) (P = ns). Neither mutation was associated with arterial thrombotic events. No patient carried both mutations. The C677→T mutation in the methylenetetrahydrofolate reductase gene was assessed in 83 patients; 15 of them (18%) were homozygous and 37 (44%) were heterozygous. There was no significant association between the status of the mutation and history of venous and arterial thrombosis. No significant correlation was found among the three groups. In conclusion, only the G1691→A mutation in the factor V gene was associated with the thrombotic risk of patients with lupus anti- coagulants.

AB - Arterial and venous thrombosis are the most common manifestations of antiphospholipid syndrome. To investigate whether genetic determinants contribute to their thrombotic risk, we studied the prevalence of the G1691→A mutation in the gene coding for factor V, the G20210→A mutation in the prothrombin gene and the C677→T mutation in the methylenetetrahydrofolate reductase gene in 152 patients with lupus anticoagulants. One hundred and twenty-eight cases (84%) also had increased titres of anticardiolipin antibodies. History of thrombosis was present in 96 patients (63%); 67 suffered from venous thrombosis only, 23 cases had arterial thrombosis only, six patients had both venous and arterial thrombosis. Five patients were heterozygous for the G1691→A mutation in the factor V gene (3%). All of them (100%) suffered from venous thrombosis compared with 68 out of the 147 cases without the mutation (46%) (P = 0.0474). The prevalence of the G20210→A mutation in the prothrombin gene was evaluated in 145 patients; eight of these patients were heterozygous (5%). Four of these patients (50%) experienced venous thrombosis compared with 65 out of the 137 patients without the mutation (47%) (P = ns). Neither mutation was associated with arterial thrombotic events. No patient carried both mutations. The C677→T mutation in the methylenetetrahydrofolate reductase gene was assessed in 83 patients; 15 of them (18%) were homozygous and 37 (44%) were heterozygous. There was no significant association between the status of the mutation and history of venous and arterial thrombosis. No significant correlation was found among the three groups. In conclusion, only the G1691→A mutation in the factor V gene was associated with the thrombotic risk of patients with lupus anti- coagulants.

KW - C677→T mutation

KW - G1691→A mutation

KW - G20210→A

KW - Lupus anticoagulants

KW - Venous thrombosis

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M3 - Article

VL - 108

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EP - 870

JO - British Journal of Haematology

JF - British Journal of Haematology

SN - 0007-1048

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