Key result
The homozygous 677 C to T MTHFR mutation did not increase venous thrombosis risk in factor V Leiden patients, with similar prevalence in cases (12%) and controls (13%).
Why the study?
Does the homozygous 677 C to T mutation in the MTHFR gene increase the risk of venous thrombosis in patients with factor V Leiden?
Population
81 unrelated patients with a history of venous thrombosis and a heterozygous factor V Leiden mutation, 111…
Comparison
Homozygous 677 C to T mutation in the… vs Absence of the homozygous MTHFR mutation
Design
Case-control
Authors
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MTHFR 677TT does not support added VTE risk assessment in factor V Leiden carriers; leaves open prospective validation of thrombophilia interactions.
Case-Control (n=269)
Does the homozygous 677 C to T mutation in the MTHFR gene increase the risk of venous thrombosis in patients with factor V Leiden?
Absolute Event Rate: 12% vs 13%
The 677 C to T mutation in the MTHFR gene does not represent a significant additional risk factor for venous thrombosis in patients with the factor V Leiden mutation.
Rintelen et al. (1999) conducted a case-control in Venous thrombosis and factor V Leiden mutation (n=269). Homozygous 677 C to T mutation in the MTHFR gene vs. Healthy subjects without factor V Leiden or other known thrombotic risk factors was evaluated on Prevalence of the homozygous MTHFR mutation. The homozygous 677 C to T MTHFR mutation did not increase venous thrombosis risk in factor V Leiden patients, with similar prevalence in cases (12%) and controls (13%).
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