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Diagn Mol Pathol. 2001 Jun;10(2):111-5.

Coexistence of the methylenetetrahydrofolate reductase single-nucleotide polymorphism (C677T) in patients with the factor V Leiden or prothrombin G20210A polymorphisms.

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Department of Pathology and Laboratory Medicine, Hartford Hospital, Hartford, CT 06102, USA.


Venous thromboembolism is a complex disease resulting from the interaction of a multitude of both genetic and environmental factors that can affect the cascade of biochemical reactions involved. Single-nucleotide polymorphisms in the genes that code for coagulation factors V (factor V Leiden) and II (prothrombin G20210A), as well as the methylenetetrahydrofolate reductase (MTHFR C677T) gene, have been implicated in the majority of cases of hereditary thrombophilia. In this study the authors evaluated the coexistence of the MTHFR polymorphism in 96 patients with a clinical suspicion for thrombosis who also have either the factor V Leiden polymorphism or the prothrombin G20210A polymorphism. Results indicate that the frequency of the MTHFR polymorphism was similar between the study and control groups with respect to heterozygosity (36.5% vs. 55.3%) and homozygosity (20.8% vs. 14.9%). These data suggest that the MTHFR polymorphism is not associated preferentially with patients who have had or who are at risk of developing a thrombotic event. In this study, patients with the factor V Leiden polymorphism or the prothrombin G20210A polymorphism were considered to be at risk.

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