Venous Thromboembolic Disease and the Prothrombin, Methylene Tetrahydrofolate Reductase and Factor V Genes

Journal: Thrombosis and Haemostasis
ISSN: 0340-6245
Issue: 1999: 81/4 (Apr) pp.479-667
Pages: 506-510
Ahead of Print: ###MANUSCRIPT_aheadofprint###

Venous Thromboembolic Disease and the Prothrombin, Methylene Tetrahydrofolate Reductase and Factor V Genes

Martine Alhenc-Gelas, Emmanuel Arnaud, Viviane Nicaud, Marie-Laurence Aubry, Jean-Noël Fiessinger, Martine Aiach, Joseph Emmerich
From Unité INSERM 428, Unité INSERM 258, and Centre Claude Bernard de Recherche sur les Maladies Vasculaires, Hôpital Broussais – AP-HP, Paris, France


The prevalence of the A20210 allele of the prothrombin (PT) gene and the T677 allele of the methylene tetrahydrofolate reductase (MTHFR) gene was determined in 205 patients with venous thromboembolism (VTE) and in 398 healthy subjects of similar age and sex distribution. We also determined the frequency of these two candidate risk alleles in subjects carrying the factor V (FV) Q506 allele, to identify a possible interaction. Forty patients (19.5%) and 14 control subjects (3.5%) were heterozygous for the FV R506Q mutation. Twenty-one patients (10.2%) and 11 controls (2.8%) were heterozygous for the PT A20210 allele (odds ratio (OR) 4.02, 95% confidence interval (CI): 1.90-8.50, p < 0.001). This confirmed that the PT A20210 allele was a risk factor for VTE in our population. Among the FV Q506 allele carriers, 9 patients (22.5%) and no control also had the PT gene G20210A mutation. The absence of the combined abnormality in the control group made it impossible to calculate the relevant ORs but the lower bound of the 95% CI was 3.94, suggesting that individuals bearing the two mutations have a higher risk than those with a single mutation. Twenty-six patients (12.7%) and 49 controls (12.3%) were homozygous for the MTHFR T677 allele (OR 1.04, 95% CI: 0.62-1.72, not significant). Four patients and 1 control were also heterozygous for the FV R506Q mutation (OR 9.33, 95% CI: 1.03-84.23). However, the ORs for carriers of the FV R506Q mutation were not significantly influenced by MTHFR gene C677T homozygosity.

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