Key result
Prothrombin G20210A mutation linked to a possible marginal increase in VTE risk for young patients.
Why the study?
The role of the prothrombin G20210A allele as a causative risk factor for venous thromboembolism in the general young population was unclear.
Does the prothrombin G20210A mutation increase the risk of venous thromboembolism in young people?
Case-Control (n=140)
Does the prothrombin G20210A mutation increase the risk of venous thromboembolism in young people?
The prothrombin G20210A mutation shows a trend toward an increased risk of venous thromboembolism in young people, though the association was not statistically significant in this small cohort.
Answers are grounded in this paper and cite their sources.
Does not support routine prothrombin testing in young VTE; leaves open its role in risk stratification.
Recently a new identified genetic variant in the 3′-untranslated region of the prothrombin gene (G20210A allele) associated with increased plasma prothrombin levels has been linked to an increased risk of venous thromboembolism (VTE). To determine the importance of this G20210A allele as a causative risk factor for VTE in the general population, we analysed the data of an epidemiologic investigation on thrombophilia in young people, the Oporto Thrombophilia Study (PORtromb). Forty cases (mean age: 27 yr old) with a first episode of VTE under 40 yr old, and 100 healthy subjects, were evaluated. Heterozygosity for the G20210A allele was present in 12.5% of VTE cases and in 5% of controls, indicating a possible marginal increase of VTE risk in carriers of the allele (odds ratio: 2.71: 95% Cl 0.74–9.95).
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Mansilha et al. (2002) conducted a case-control in Venous thromboembolism (n=140). Prothrombin G20210A mutation vs. Non-carriers (healthy subjects) was evaluated on Venous thromboembolism (VTE) (OR 2.71, 95% CI 0.74-9.95). The prothrombin G20210A mutation was present in 12.5% of young VTE cases and 5% of controls, indicating a possible marginal increase in VTE risk.
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