The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease

P. M. Mannucci, R. Asselta, S. Duga, I. Guella, M. Spreafico, L. Lotta, P. A. Merlini, F. Peyvandi, S. Kathiresan, D. Ardissino

Research output: Contribution to journalArticle

Abstract

Aims: Gain-of-function variants of genes encoding coagulation factor V (F5 G1691A) and prothrombin (F2 G20210A) cause hypercoagulability and are established risk factors for venous thrombosis. A meta-analysis of 66 155 cases and 91 307 controls found that either polymorphism is associated with a moderately increased risk of coronary artery disease (CAD). Because genetic factors play a particularly important role when acute myocardial infarction (AMI) occurs in the young, we chose to replicate these results by investigating, in the frame of a case-control study, a large cohort of Italian patients who had AMI before the age of 45 years. Methods and Results: In 1880 patients with AMI (1680 men and 210 women) and an equal number of controls, the minor A allele of F5 G1691A (2.6% frequency in cases and 1.7% in controls) was associated with an increased risk of AMI, the association remaining significant after adjustment for traditional risk factors (OR, 1.66; 95% CI, 1.15-2.38; P = 0.006). The positive association with AMI for the minor A allele of F2 G20210A (2.5% frequency in cases and 1.9% in controls) did not reach statistical significance (OR, 1.32; 95% CI, 0.96-1.80; P = 0.159). Conclusions: In a large cohort of young AMI patients the gain-of-function variant F5 G1691A was associated with an increased risk of AMI. The findings on the variant F2 G20210A confirmed the previously reported results, but the association was statistically not significant. These data suggest that a number of young patients with AMI carry gene variants associated with a procoagulant phenotype.

Original languageEnglish
Pages (from-to)2116-2121
Number of pages6
JournalJournal of Thrombosis and Haemostasis
Volume8
Issue number10
DOIs
Publication statusPublished - Oct 2010

Fingerprint

Myocardial Infarction
Alleles
Thrombophilia
Factor V
factor V Leiden
Prothrombin
Venous Thrombosis
Genes
Meta-Analysis
Case-Control Studies
Coronary Artery Disease
Phenotype

Keywords

  • Acute myocardial infarction
  • Association study
  • Factor V Leiden
  • Plasminogen activator inhibitor (PAI-1)
  • Prothrombin

ASJC Scopus subject areas

  • Hematology

Cite this

The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease. / Mannucci, P. M.; Asselta, R.; Duga, S.; Guella, I.; Spreafico, M.; Lotta, L.; Merlini, P. A.; Peyvandi, F.; Kathiresan, S.; Ardissino, D.

In: Journal of Thrombosis and Haemostasis, Vol. 8, No. 10, 10.2010, p. 2116-2121.

Research output: Contribution to journalArticle

Mannucci, P. M. ; Asselta, R. ; Duga, S. ; Guella, I. ; Spreafico, M. ; Lotta, L. ; Merlini, P. A. ; Peyvandi, F. ; Kathiresan, S. ; Ardissino, D. / The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease. In: Journal of Thrombosis and Haemostasis. 2010 ; Vol. 8, No. 10. pp. 2116-2121.
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title = "The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease",
abstract = "Aims: Gain-of-function variants of genes encoding coagulation factor V (F5 G1691A) and prothrombin (F2 G20210A) cause hypercoagulability and are established risk factors for venous thrombosis. A meta-analysis of 66 155 cases and 91 307 controls found that either polymorphism is associated with a moderately increased risk of coronary artery disease (CAD). Because genetic factors play a particularly important role when acute myocardial infarction (AMI) occurs in the young, we chose to replicate these results by investigating, in the frame of a case-control study, a large cohort of Italian patients who had AMI before the age of 45 years. Methods and Results: In 1880 patients with AMI (1680 men and 210 women) and an equal number of controls, the minor A allele of F5 G1691A (2.6{\%} frequency in cases and 1.7{\%} in controls) was associated with an increased risk of AMI, the association remaining significant after adjustment for traditional risk factors (OR, 1.66; 95{\%} CI, 1.15-2.38; P = 0.006). The positive association with AMI for the minor A allele of F2 G20210A (2.5{\%} frequency in cases and 1.9{\%} in controls) did not reach statistical significance (OR, 1.32; 95{\%} CI, 0.96-1.80; P = 0.159). Conclusions: In a large cohort of young AMI patients the gain-of-function variant F5 G1691A was associated with an increased risk of AMI. The findings on the variant F2 G20210A confirmed the previously reported results, but the association was statistically not significant. These data suggest that a number of young patients with AMI carry gene variants associated with a procoagulant phenotype.",
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T1 - The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease

AU - Mannucci, P. M.

AU - Asselta, R.

AU - Duga, S.

AU - Guella, I.

AU - Spreafico, M.

AU - Lotta, L.

AU - Merlini, P. A.

AU - Peyvandi, F.

AU - Kathiresan, S.

AU - Ardissino, D.

PY - 2010/10

Y1 - 2010/10

N2 - Aims: Gain-of-function variants of genes encoding coagulation factor V (F5 G1691A) and prothrombin (F2 G20210A) cause hypercoagulability and are established risk factors for venous thrombosis. A meta-analysis of 66 155 cases and 91 307 controls found that either polymorphism is associated with a moderately increased risk of coronary artery disease (CAD). Because genetic factors play a particularly important role when acute myocardial infarction (AMI) occurs in the young, we chose to replicate these results by investigating, in the frame of a case-control study, a large cohort of Italian patients who had AMI before the age of 45 years. Methods and Results: In 1880 patients with AMI (1680 men and 210 women) and an equal number of controls, the minor A allele of F5 G1691A (2.6% frequency in cases and 1.7% in controls) was associated with an increased risk of AMI, the association remaining significant after adjustment for traditional risk factors (OR, 1.66; 95% CI, 1.15-2.38; P = 0.006). The positive association with AMI for the minor A allele of F2 G20210A (2.5% frequency in cases and 1.9% in controls) did not reach statistical significance (OR, 1.32; 95% CI, 0.96-1.80; P = 0.159). Conclusions: In a large cohort of young AMI patients the gain-of-function variant F5 G1691A was associated with an increased risk of AMI. The findings on the variant F2 G20210A confirmed the previously reported results, but the association was statistically not significant. These data suggest that a number of young patients with AMI carry gene variants associated with a procoagulant phenotype.

AB - Aims: Gain-of-function variants of genes encoding coagulation factor V (F5 G1691A) and prothrombin (F2 G20210A) cause hypercoagulability and are established risk factors for venous thrombosis. A meta-analysis of 66 155 cases and 91 307 controls found that either polymorphism is associated with a moderately increased risk of coronary artery disease (CAD). Because genetic factors play a particularly important role when acute myocardial infarction (AMI) occurs in the young, we chose to replicate these results by investigating, in the frame of a case-control study, a large cohort of Italian patients who had AMI before the age of 45 years. Methods and Results: In 1880 patients with AMI (1680 men and 210 women) and an equal number of controls, the minor A allele of F5 G1691A (2.6% frequency in cases and 1.7% in controls) was associated with an increased risk of AMI, the association remaining significant after adjustment for traditional risk factors (OR, 1.66; 95% CI, 1.15-2.38; P = 0.006). The positive association with AMI for the minor A allele of F2 G20210A (2.5% frequency in cases and 1.9% in controls) did not reach statistical significance (OR, 1.32; 95% CI, 0.96-1.80; P = 0.159). Conclusions: In a large cohort of young AMI patients the gain-of-function variant F5 G1691A was associated with an increased risk of AMI. The findings on the variant F2 G20210A confirmed the previously reported results, but the association was statistically not significant. These data suggest that a number of young patients with AMI carry gene variants associated with a procoagulant phenotype.

KW - Acute myocardial infarction

KW - Association study

KW - Factor V Leiden

KW - Plasminogen activator inhibitor (PAI-1)

KW - Prothrombin

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